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Tytuł:
The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants.
Autorzy:
Materna M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris-Cité, Paris, France.
Delmonte OM; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Bosticardo M; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Momenilandi M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris-Cité, Paris, France.
Conrey PE; Division of Allergy Immunology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Charmeteau-De Muylder B; University of Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France.
Bravetti C; Department of Biological Hematology, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris (AP-HP) and Sorbonne Université, Paris, France.; Sorbonne University, Paris Cancer Institute CURAMUS, INSERM U1138, Paris, France.
Bellworthy R; Deptartment of Human Genetics, Dahdaleh Institute of Genomic Medicine, McGill University, Montreal, QC, Canada.
Cederholm A; Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.
Staels F; Allergy and Clinical Immunology Research Group, Department of Microbiology, Immunology and Transplantation, KU Leuven, Leuven, Belgium.
Ganoza CA; Centogene GmbH, Rostock, Germany.
Darko S; Human Immunology Section, Vaccine Research Center, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Sayed S; Division of Allergy Immunology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Le Floc'h C; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris-Cité, Paris, France.
Ogishi M; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Rinchai D; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Guenoun A; Department of Human Immunology, Sidra Medicine, Doha, Qatar.
Bolze A; Helix, San Mateo, CA, USA.
Khan T; Department of Human Immunology, Sidra Medicine, Doha, Qatar.; The Jackson Laboratory, Farmington, CT, USA.
Gervais A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris-Cité, Paris, France.
Krüger R; Department of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany.
Völler M; Department of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany.
Palterer B; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Sadeghi-Shabestari M; Immunology Research Center, TB and Lung Disease Research Center, Mardaniazar Children Hospital, Tabriz University of Medical Science, Tabriz, Iran.
Langlois de Septenville A; Department of Biological Hematology, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris (AP-HP) and Sorbonne Université, Paris, France.
Schramm CA; Human Immunology Section, Vaccine Research Center, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Shah S; Human Immunology Section, Vaccine Research Center, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Tello-Cajiao JJ; Division of Allergy Immunology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pathology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Pala F; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Amini K; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Campos JS; Division of Allergy Immunology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Lima NS; Human Immunology Section, Vaccine Research Center, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Eriksson D; Department of Immunology, Genetics and Pathology, Uppsala University and University Hospital, Section of Clinical Genetics, Uppsala, Sweden.
Lévy R; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris-Cité, Paris, France.; Pediatric Immunology, Hematology and Rheumatology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France.
Seeleuthner Y; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris-Cité, Paris, France.
Jyonouchi S; Division of Allergy Immunology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Ata M; Department of Human Immunology, Sidra Medicine, Doha, Qatar.
Al Ali F; Department of Human Immunology, Sidra Medicine, Doha, Qatar.
Stittrich A; Labor Berlin Charité-Vivantes GmbH, Department of Human Genetics, Berlin, Germany.
Deswarte C; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris-Cité, Paris, France.
Pereira A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris-Cité, Paris, France.
Mégret J; Cytometry Core Facility, SFR Necker, INSERM US24-CNRS UAR3633, Paris, France.
Le Voyer T; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris-Cité, Paris, France.
Bastard P; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris-Cité, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Pediatric Immunology, Hematology and Rheumatology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France.
Berteloot L; Department of Pediatric Radiology, University Hospital Necker-Enfants Malades, AP-HP, Paris, France.
Dussiot M; Imagine Institute, University of Paris-Cité, Paris, France.; Laboratory of Molecular Mechanisms of Hematological Disorders and Therapeutic Implications, INSERM UMR 1163, Paris, France.
Vladikine N; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris-Cité, Paris, France.
Cardenas PP; Department of Immunology, Ophthalmology and ENT, Complutense University School of Medicine and 12 de Octubre Health Research Institute (imas12), Madrid, Spain.
Jouanguy E; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris-Cité, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Alqahtani M; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Hasan A; Department of Translational Research, Research Division, Dasman Diabetes Institute, Dasman, Kuwait City, Kuwait.
Thanaraj TA; Department of Genetics and Bioinformatics, Research Division, Dasman Diabetes Institute, Dasman, Kuwait City, Kuwait.
Rosain J; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris-Cité, Paris, France.
Al Qureshah F; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Sabato V; Department of Immunology, Allergology and Rheumatology, University of Antwerp, Antwerp University Hospital, Antwerp, Belgium.
Alyanakian MA; Immunology Laboratory, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
Leruez-Ville M; Necker Hospital for Sick Children, AP-HP, Paris, France.
Rozenberg F; University of Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France.; Virology, Cochin Hospital, AP-HP, APHP-CUP, Paris, France.
Haddad E; Department of Pediatrics, Department of Microbiology, Immunology and Infectious Diseases, University of Montreal, CHU Sainte-Justine, Montreal, QC, Canada.
Regueiro JR; Department of Immunology, Ophthalmology and ENT, Complutense University School of Medicine and 12 de Octubre Health Research Institute (imas12), Madrid, Spain.
Toribio ML; Immune System Development and Function Unit, Centro de Biología Molecular Severo Ochoa, Consejo Superior de Investigaciones Científicas (CSIC), Universidad Autónoma de Madrid (UAM), Madrid, Spain.
Kelsen JR; Division of Gastroenterology, Hepatology and Nutrition, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Salehi M; Cellular, Molecular and Genetics Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.; Department of Genetics and Molecular Biology, Medical School, Isfahan University of Medical Sciences, Isfahan, Iran.
Nasiri S; Department of Pediatric Neurology, Children's Medical Center of Abuzar, Jundishapur University of Medical Sciences, Ahvaz, Iran.
Torabizadeh M; Golestan Hospital Clinical Research Development Unit, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
Rokni-Zadeh H; Department of Medical Biotechnology, School of Medicine, Zanjan University of Medical Sciences (ZUMS), Zanjan, Iran.
Changi-Ashtiani M; School of Mathematics, Institute for Research in Fundamental Sciences (IPM), Tehran, Iran.
Vatandoost N; Department of Genetics and Molecular Biology, Medical School, Isfahan University of Medical Sciences, Isfahan, Iran.; Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Non-Communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran.
Moravej H; Neonatal Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
Akrami SM; Medical Genetics Poursina St., Genetic Department, Medical Faculty, Tehran University of Medical Sciences, Tehran, Iran.; Dr. Shahrooei Laboratory, Tehran, Iran.
Mazloomrezaei M; Dr. Shahrooei Laboratory, Tehran, Iran.
Cobat A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris-Cité, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Meyts I; Laboratory for Inborn Errors of Immunity, Department of Microbiology, Immunology and Transplantation, Department of Pediatrics, University Hospitals Leuven, KU Leuven, Leuven, Belgium.; Department of Pediatrics, University Hospitals Leuven, KU Leuven, Leuven, Belgium.
Toyofuku E; Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan.
Nishimura M; Department of Pediatrics, NHO Kumamoto Medical Center, Kumamoto, Japan.
Moriya K; Department of Pediatrics, National Defense Medical College, Saitama, Japan.
Mizukami T; Department of Pediatrics, NHO Kumamoto Medical Center, Kumamoto, Japan.
Imai K; Department of Pediatrics, National Defense Medical College, Saitama, Japan.
Abel L; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris-Cité, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Malissen B; Immunology Center of Marseille-Luminy, Aix Marseille University, Inserm, CNRS, Marseille, France.; Immunophenomics Center (CIPHE), Aix Marseille Université, Inserm, CNRS, Marseille, France.
Al-Mulla F; Department of Genetics and Bioinformatics, Research Division, Dasman Diabetes Institute, Dasman, Kuwait City, Kuwait.
Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
Parvaneh N; Division of Allergy and Clinical Immunology, Department of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran.
von Bernuth H; Department of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.; Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité - Universitätsmedizin Berlin, Berlin, Germany.; Labor Berlin GmbH, Department of Immunology, Berlin, Germany.
Beetz C; Centogene GmbH, Rostock, Germany.
Davi F; Department of Biological Hematology, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris (AP-HP) and Sorbonne Université, Paris, France.; Sorbonne University, Paris Cancer Institute CURAMUS, INSERM U1138, Paris, France.
Douek DC; Human Immunology Section, Vaccine Research Center, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Cheynier R; University of Paris, Institut Cochin, INSERM U1016, CNRS UMR8104, Paris, France.
Langlais D; Deptartment of Human Genetics, Dahdaleh Institute of Genomic Medicine, McGill University, Montreal, QC, Canada.
Landegren N; Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.; Center for Molecular Medicine, Department of Medicine (Solna), Karolinska Institute, Stockholm, Sweden.
Marr N; Department of Human Immunology, Sidra Medicine, Doha, Qatar.; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.
Morio T; Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan.
Shahrooei M; Dr. Shahrooei Laboratory, Tehran, Iran.; Clinical and Diagnostic Immunology, Department of Microbiology, Immunology, and Transplantation, KU Leuven, Leuven, Belgium.
Schrijvers R; Allergy and Clinical Immunology Research Group, Department of Microbiology, Immunology and Transplantation, KU Leuven, Leuven, Belgium.
Henrickson SE; Division of Allergy Immunology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Institute for Immunology and Immune Health, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Department of Microbiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Luche H; Immunophenomics Center (CIPHE), Aix Marseille Université, Inserm, CNRS, Marseille, France.
Notarangelo LD; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Casanova JL; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris-Cité, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Department of Pediatrics, Necker Hospital for Sick Children, AP-HP, Paris, France.; Howard Hughes Medical Institute, The Rockefeller University, New York, NY, USA.
Béziat V; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris-Cité, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
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Źródło:
Science (New York, N.Y.) [Science] 2024 Mar; Vol. 383 (6686), pp. eadh4059. Date of Electronic Publication: 2024 Mar 01.
Typ publikacji:
Journal Article
MeSH Terms:
Autoimmunity*/genetics
Intraepithelial Lymphocytes*/immunology
Receptors, Antigen, T-Cell, alpha-beta*/genetics
Membrane Glycoproteins*/genetics
Humans ; Cell Differentiation ; Homozygote ; Loss of Function Mutation ; Lymphocyte Count ; Alleles ; Infections/immunology ; Lymphoproliferative Disorders/immunology ; Pedigree ; Male ; Female ; Middle Aged ; Aged ; Aged, 80 and over
Czasopismo naukowe
Tytuł:
Loss of LKB1-NUAK1 signalling enhances NF-κB activity in a spheroid model of high-grade serous ovarian cancer.
Autorzy:
Buensuceso A; The Mary & John Knight Translational Ovarian Cancer Research Unit, London Regional Cancer Program, 790 Commissioners Road East, Room A4-836, London, ON, N6A 4L6, Canada.; Department of Anatomy and Cell Biology, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada.
Fritz JL; The Mary & John Knight Translational Ovarian Cancer Research Unit, London Regional Cancer Program, 790 Commissioners Road East, Room A4-836, London, ON, N6A 4L6, Canada.; Department of Anatomy and Cell Biology, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada.
Collins O; The Mary & John Knight Translational Ovarian Cancer Research Unit, London Regional Cancer Program, 790 Commissioners Road East, Room A4-836, London, ON, N6A 4L6, Canada.
Valdés YR; The Mary & John Knight Translational Ovarian Cancer Research Unit, London Regional Cancer Program, 790 Commissioners Road East, Room A4-836, London, ON, N6A 4L6, Canada.
Borrelli MJ; The Mary & John Knight Translational Ovarian Cancer Research Unit, London Regional Cancer Program, 790 Commissioners Road East, Room A4-836, London, ON, N6A 4L6, Canada.; Department of Anatomy and Cell Biology, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada.
DiMattia GE; The Mary & John Knight Translational Ovarian Cancer Research Unit, London Regional Cancer Program, 790 Commissioners Road East, Room A4-836, London, ON, N6A 4L6, Canada.; Department of Biochemistry, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada.; Department of Oncology, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada.
Shepherd TG; The Mary & John Knight Translational Ovarian Cancer Research Unit, London Regional Cancer Program, 790 Commissioners Road East, Room A4-836, London, ON, N6A 4L6, Canada. .; Department of Anatomy and Cell Biology, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada. .; Department of Oncology, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada. .; Department of Obstetrics and Gynaecology, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada. .
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Źródło:
Scientific reports [Sci Rep] 2022 Feb 22; Vol. 12 (1), pp. 3011. Date of Electronic Publication: 2022 Feb 22.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Loss of Function Mutation*
Spheroids, Cellular*/metabolism
Spheroids, Cellular*/physiology
AMP-Activated Protein Kinase Kinases/*genetics
AMP-Activated Protein Kinase Kinases/*physiology
NF-kappa B/*metabolism
Ovarian Neoplasms/*genetics
Ovarian Neoplasms/*metabolism
Protein Kinases/*genetics
Protein Kinases/*physiology
Repressor Proteins/*genetics
Repressor Proteins/*physiology
Signal Transduction/*genetics
Signal Transduction/*physiology
Animals ; Cell Survival ; Disease Models, Animal ; Female ; Gene Expression Profiling ; Humans ; Mice ; Molecular Targeted Therapy ; Neoplasm Transplantation ; Ovarian Neoplasms/pathology ; Ovarian Neoplasms/therapy ; Reactive Oxygen Species/metabolism ; Transcriptome/genetics ; Tumor Cells, Cultured
Czasopismo naukowe
Tytuł:
FOXO1 forkhead domain mutants in B-cell lymphoma lack transcriptional activity.
Autorzy:
Sablon A; Experimental Medicine Unit, De Duve Institute, Université Catholique de Louvain, Avenue Hippocrate 75, B1.74.05, 1200, Brussels, Belgium.
Bollaert E; Experimental Medicine Unit, De Duve Institute, Université Catholique de Louvain, Avenue Hippocrate 75, B1.74.05, 1200, Brussels, Belgium.
Pirson C; Experimental Medicine Unit, De Duve Institute, Université Catholique de Louvain, Avenue Hippocrate 75, B1.74.05, 1200, Brussels, Belgium.
Velghe AI; Experimental Medicine Unit, De Duve Institute, Université Catholique de Louvain, Avenue Hippocrate 75, B1.74.05, 1200, Brussels, Belgium.
Demoulin JB; Experimental Medicine Unit, De Duve Institute, Université Catholique de Louvain, Avenue Hippocrate 75, B1.74.05, 1200, Brussels, Belgium. .
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Źródło:
Scientific reports [Sci Rep] 2022 Jan 25; Vol. 12 (1), pp. 1309. Date of Electronic Publication: 2022 Jan 25.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Loss of Function Mutation*
Transcriptional Activation*
Forkhead Box Protein O1/*genetics
Forkhead Box Protein O1/*metabolism
Lymphoma, B-Cell/*genetics
Lymphoma, B-Cell/*metabolism
Protein Domains/*genetics
Signal Transduction/*genetics
Amino Acids/metabolism ; DNA/metabolism ; Forkhead Box Protein O1/chemistry ; HEK293 Cells ; Humans ; Phosphorylation/genetics ; Point Mutation ; Protein Binding ; Protein Conformation, alpha-Helical ; Protein Interaction Maps/genetics ; Proto-Oncogene Proteins c-akt/metabolism ; Transfection
Czasopismo naukowe
Tytuł:
Human Genetic Diseases Linked to the Absence of NEMO: An Obligatory Somatic Mosaic Disorder in Male.
Autorzy:
Pescatore A; Institute of Genetics and Biophysics 'Adriano Buzzati-Traverso', IGB-CNR, Via P. Castellino, 111, 80131 Naples, Italy.
Spinosa E; Institute of Genetics and Biophysics 'Adriano Buzzati-Traverso', IGB-CNR, Via P. Castellino, 111, 80131 Naples, Italy.
Casale C; Institute of Genetics and Biophysics 'Adriano Buzzati-Traverso', IGB-CNR, Via P. Castellino, 111, 80131 Naples, Italy.
Lioi MB; Department of Science, University of Basilicata, Viale dell'Ateneo Lucano, 85100 Potenza, Italy.
Ursini MV; Institute of Genetics and Biophysics 'Adriano Buzzati-Traverso', IGB-CNR, Via P. Castellino, 111, 80131 Naples, Italy.
Fusco F; Institute of Genetics and Biophysics 'Adriano Buzzati-Traverso', IGB-CNR, Via P. Castellino, 111, 80131 Naples, Italy.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2022 Jan 21; Vol. 23 (3). Date of Electronic Publication: 2022 Jan 21.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Loss of Function Mutation*
Mosaicism*
I-kappa B Kinase/*deficiency
I-kappa B Kinase/*genetics
Incontinentia Pigmenti/*pathology
Humans ; Incontinentia Pigmenti/etiology ; Incontinentia Pigmenti/metabolism ; Male
Czasopismo naukowe
Tytuł:
Impaired Retromer Function in Niemann-Pick Type C Disease Is Dependent on Intracellular Cholesterol Accumulation.
Autorzy:
Dominko K; Laboratory for Neurodegenerative Disease Research, Division of Molecular Medicine, Ruder Boskovic Institute, 10000 Zagreb, Croatia.
Rastija A; Laboratory for Neurodegenerative Disease Research, Division of Molecular Medicine, Ruder Boskovic Institute, 10000 Zagreb, Croatia.
Sobocanec S; Laboratory for Mitochondrial Bioenergetics and Diabetes, Division of Molecular Medicine, Ruder Boskovic Institute, 10000 Zagreb, Croatia.
Vidatic L; Laboratory for Neurodegenerative Disease Research, Division of Molecular Medicine, Ruder Boskovic Institute, 10000 Zagreb, Croatia.
Meglaj S; Division of Biology, Faculty of Science, University of Zagreb, 10000 Zagreb, Croatia.
Lovincic Babic A; Division of Biology, Faculty of Science, University of Zagreb, 10000 Zagreb, Croatia.
Hutter-Paier B; QPS Austria GmbH, 8074 Grambach, Austria.
Colombo AV; German Center for Neurodegenerative Diseases (DZNE), 81377 Munich, Germany.
Lichtenthaler SF; German Center for Neurodegenerative Diseases (DZNE), 81377 Munich, Germany.; Neuroproteomics, School of Medicine, Klinikum Rechts der Isar, Technical University of Munich, 81675 Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), 81377 Munich, Germany.
Tahirovic S; German Center for Neurodegenerative Diseases (DZNE), 81377 Munich, Germany.
Hecimovic S; Laboratory for Neurodegenerative Disease Research, Division of Molecular Medicine, Ruder Boskovic Institute, 10000 Zagreb, Croatia.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2021 Dec 09; Vol. 22 (24). Date of Electronic Publication: 2021 Dec 09.
Typ publikacji:
Journal Article
MeSH Terms:
Loss of Function Mutation*
Cholesterol/*metabolism
Neurons/*metabolism
Niemann-Pick C1 Protein/*genetics
Niemann-Pick Disease, Type C/*genetics
Animals ; CHO Cells ; Cells, Cultured ; Cricetulus ; Disease Models, Animal ; Female ; Humans ; Male ; Membrane Transport Proteins/metabolism ; Mice ; Neurons/cytology ; Niemann-Pick Disease, Type C/metabolism ; Primary Cell Culture ; Receptors, LDL/metabolism ; Vesicular Transport Proteins/metabolism
Czasopismo naukowe
Tytuł:
Depletion of Lipocalin 2 (LCN2) in Mice Leads to Dysbiosis and Persistent Colonization with Segmented Filamentous Bacteria.
Autorzy:
Klüber P; German Centre for Infection Research, Institute of Medical Microbiology, Justus-Liebig-University, D-35392 Giessen, Germany.
Meurer SK; Institute of Molecular Pathobiochemistry, Experimental Gene Therapy and Clinical Chemistry (IFMPEGKC), RWTH Aachen University Hospital, D-52074 Aachen, Germany.
Lambertz J; Institute of Molecular Pathobiochemistry, Experimental Gene Therapy and Clinical Chemistry (IFMPEGKC), RWTH Aachen University Hospital, D-52074 Aachen, Germany.
Schwarz R; Labor Mönchengladbach, Medical Care Centre, D-41169 Mönchengladbach, Germany.
Zechel-Gran S; German Centre for Infection Research, Institute of Medical Microbiology, Justus-Liebig-University, D-35392 Giessen, Germany.
Braunschweig T; Institute of Pathology, RWTH Aachen University Hospital, D-52074 Aachen, Germany.
Hurka S; Institute for Insect Biotechnology, Justus-Liebig-University, D-35392 Giessen, Germany.
Domann E; German Centre for Infection Research, Institute of Hygiene and Environmental Medicine, Justus-Liebig-University, D-35392 Giessen, Germany.
Weiskirchen R; Institute of Molecular Pathobiochemistry, Experimental Gene Therapy and Clinical Chemistry (IFMPEGKC), RWTH Aachen University Hospital, D-52074 Aachen, Germany.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2021 Dec 05; Vol. 22 (23). Date of Electronic Publication: 2021 Dec 05.
Typ publikacji:
Journal Article
MeSH Terms:
Loss of Function Mutation*
Bacteria/*classification
Dysbiosis/*microbiology
Lipocalin-2/*genetics
Sequence Analysis, DNA/*methods
Animals ; Bacteria/genetics ; Bacteria/isolation & purification ; DNA, Bacterial/genetics ; DNA, Ribosomal/genetics ; Disease Models, Animal ; Dysbiosis/genetics ; Dysbiosis/immunology ; Feces/microbiology ; Female ; High-Throughput Nucleotide Sequencing ; Male ; Mice ; Mice, Knockout ; Phylogeny ; RNA, Ribosomal, 16S/genetics ; Sex Factors
Czasopismo naukowe
Tytuł:
Proteomic Analysis of Marinesco-Sjogren Syndrome Fibroblasts Indicates Pro-Survival Metabolic Adaptation to SIL1 Loss.
Autorzy:
Potenza F; Department of Innovative Technologies in Medicine and Dentistry, 'G. d'Annunzio' University of Chieti-Pescara, 66100 Chieti, Italy.; Center for Advanced Studies and Technology (CAST), 'G. d'Annunzio' University of Chieti-Pescara, 66100 Chieti, Italy.
Cufaro MC; Center for Advanced Studies and Technology (CAST), 'G. d'Annunzio' University of Chieti-Pescara, 66100 Chieti, Italy.; Department of Pharmacy, 'G. d'Annunzio' University of Chieti-Pescara, 66100 Chieti, Italy.
Di Biase L; Department of Innovative Technologies in Medicine and Dentistry, 'G. d'Annunzio' University of Chieti-Pescara, 66100 Chieti, Italy.; Center for Advanced Studies and Technology (CAST), 'G. d'Annunzio' University of Chieti-Pescara, 66100 Chieti, Italy.
Panella V; Department of Life, Health and Environmental Sciences, University of L'Aquila, 67100 L'Aquila, Italy.
Di Campli A; Center for Advanced Studies and Technology (CAST), 'G. d'Annunzio' University of Chieti-Pescara, 66100 Chieti, Italy.; Institute of Protein Biochemistry (IBP), Italian National Research Council (CNR), 80131 Napoli, Italy.
Ruggieri AG; Department of Innovative Technologies in Medicine and Dentistry, 'G. d'Annunzio' University of Chieti-Pescara, 66100 Chieti, Italy.; Center for Advanced Studies and Technology (CAST), 'G. d'Annunzio' University of Chieti-Pescara, 66100 Chieti, Italy.
Dufrusine B; Department of Innovative Technologies in Medicine and Dentistry, 'G. d'Annunzio' University of Chieti-Pescara, 66100 Chieti, Italy.; Center for Advanced Studies and Technology (CAST), 'G. d'Annunzio' University of Chieti-Pescara, 66100 Chieti, Italy.
Restelli E; Department of Neuroscience, Istituto di Ricerche Farmacologiche Mario Negri IRCCS, 20156 Milano, Italy.
Pietrangelo L; Center for Advanced Studies and Technology (CAST), 'G. d'Annunzio' University of Chieti-Pescara, 66100 Chieti, Italy.; Department of Medicine and Aging Sciences, 'G. d'Annunzio' University of Chieti-Pescara, 66100 Chieti, Italy.
Protasi F; Center for Advanced Studies and Technology (CAST), 'G. d'Annunzio' University of Chieti-Pescara, 66100 Chieti, Italy.; Department of Medicine and Aging Sciences, 'G. d'Annunzio' University of Chieti-Pescara, 66100 Chieti, Italy.
Pieragostino D; Department of Innovative Technologies in Medicine and Dentistry, 'G. d'Annunzio' University of Chieti-Pescara, 66100 Chieti, Italy.; Center for Advanced Studies and Technology (CAST), 'G. d'Annunzio' University of Chieti-Pescara, 66100 Chieti, Italy.
De Laurenzi V; Department of Innovative Technologies in Medicine and Dentistry, 'G. d'Annunzio' University of Chieti-Pescara, 66100 Chieti, Italy.; Center for Advanced Studies and Technology (CAST), 'G. d'Annunzio' University of Chieti-Pescara, 66100 Chieti, Italy.
Federici L; Department of Innovative Technologies in Medicine and Dentistry, 'G. d'Annunzio' University of Chieti-Pescara, 66100 Chieti, Italy.; Center for Advanced Studies and Technology (CAST), 'G. d'Annunzio' University of Chieti-Pescara, 66100 Chieti, Italy.
Chiesa R; Department of Neuroscience, Istituto di Ricerche Farmacologiche Mario Negri IRCCS, 20156 Milano, Italy.
Sallese M; Department of Innovative Technologies in Medicine and Dentistry, 'G. d'Annunzio' University of Chieti-Pescara, 66100 Chieti, Italy.; Center for Advanced Studies and Technology (CAST), 'G. d'Annunzio' University of Chieti-Pescara, 66100 Chieti, Italy.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2021 Nov 18; Vol. 22 (22). Date of Electronic Publication: 2021 Nov 18.
Typ publikacji:
Journal Article
MeSH Terms:
Loss of Function Mutation*
RNA Splicing*
Unfolded Protein Response*
Fibroblasts/*metabolism
Guanine Nucleotide Exchange Factors/*genetics
Spinocerebellar Degenerations/*genetics
Activating Transcription Factor 4/genetics ; Activating Transcription Factor 4/metabolism ; Amino Acids/metabolism ; Child ; Citric Acid Cycle/genetics ; Endoplasmic Reticulum/genetics ; Endoplasmic Reticulum/metabolism ; Eukaryotic Initiation Factor-2/genetics ; Eukaryotic Initiation Factor-2/metabolism ; Fibroblasts/pathology ; Gene Expression ; Gene Expression Profiling ; Gene Ontology ; Gene Regulatory Networks ; Guanine Nucleotide Exchange Factors/deficiency ; Humans ; Lipid Metabolism/genetics ; Molecular Sequence Annotation ; Primary Cell Culture ; Proteolysis ; Spinocerebellar Degenerations/metabolism ; Spinocerebellar Degenerations/pathology ; X-Box Binding Protein 1/genetics ; X-Box Binding Protein 1/metabolism
Czasopismo naukowe
Tytuł:
CDKN2A loss-of-function predicts immunotherapy resistance in non-small cell lung cancer.
Autorzy:
Gutiontov SI; Department of Radiation and Cellular Oncology, The University of Chicago, 5758 S Maryland Ave, MC 9006, Chicago, IL, 60637, USA.
Turchan WT; Department of Radiation and Cellular Oncology, The University of Chicago, 5758 S Maryland Ave, MC 9006, Chicago, IL, 60637, USA.
Spurr LF; Pritzker School of Medicine, The University of Chicago, Chicago, IL, USA.
Rouhani SJ; Section of Hematology/Oncology, Department of Medicine, The University of Chicago, Chicago, IL, USA.
Chervin CS; Section of Hematology/Oncology, Department of Medicine, The University of Chicago, Chicago, IL, USA.
Steinhardt G; Department of Pathology, The University of Chicago, Chicago, IL, USA.
Lager AM; Section of Hematology/Oncology, Department of Medicine, The University of Chicago, Chicago, IL, USA.
Wanjari P; Department of Pathology, The University of Chicago, Chicago, IL, USA.
Malik R; Department of Radiation and Cellular Oncology, The University of Chicago, 5758 S Maryland Ave, MC 9006, Chicago, IL, 60637, USA.
Connell PP; Department of Radiation and Cellular Oncology, The University of Chicago, 5758 S Maryland Ave, MC 9006, Chicago, IL, 60637, USA.
Chmura SJ; Department of Radiation and Cellular Oncology, The University of Chicago, 5758 S Maryland Ave, MC 9006, Chicago, IL, 60637, USA.
Juloori A; Department of Radiation and Cellular Oncology, The University of Chicago, 5758 S Maryland Ave, MC 9006, Chicago, IL, 60637, USA.
Hoffman PC; Section of Hematology/Oncology, Department of Medicine, The University of Chicago, Chicago, IL, USA.
Ferguson MK; Section of Thoracic Surgery, Department of Surgery, The University of Chicago, Chicago, IL, USA.
Donington JS; Section of Thoracic Surgery, Department of Surgery, The University of Chicago, Chicago, IL, USA.
Patel JD; Section of Hematology/Oncology, Department of Medicine, Northwestern University, Evanston, IL, USA.
Vokes EE; Section of Hematology/Oncology, Department of Medicine, The University of Chicago, Chicago, IL, USA.
Weichselbaum RR; Department of Radiation and Cellular Oncology, The University of Chicago, 5758 S Maryland Ave, MC 9006, Chicago, IL, 60637, USA.; Ludwig Center for Metastasis Research, The University of Chicago, Chicago, IL, USA.
Bestvina CM; Section of Hematology/Oncology, Department of Medicine, The University of Chicago, Chicago, IL, USA.
Segal JP; Department of Pathology, The University of Chicago, Chicago, IL, USA.
Pitroda SP; Department of Radiation and Cellular Oncology, The University of Chicago, 5758 S Maryland Ave, MC 9006, Chicago, IL, 60637, USA. .; Ludwig Center for Metastasis Research, The University of Chicago, Chicago, IL, USA. .
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Źródło:
Scientific reports [Sci Rep] 2021 Oct 08; Vol. 11 (1), pp. 20059. Date of Electronic Publication: 2021 Oct 08.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Loss of Function Mutation*
Biomarkers, Tumor/*genetics
Carcinoma, Non-Small-Cell Lung/*pathology
Cyclin-Dependent Kinase Inhibitor p16/*genetics
Drug Resistance, Neoplasm/*genetics
Immunotherapy/*methods
Lung Neoplasms/*pathology
Adult ; Aged ; Aged, 80 and over ; Carcinoma, Non-Small-Cell Lung/drug therapy ; Carcinoma, Non-Small-Cell Lung/genetics ; Female ; Follow-Up Studies ; Humans ; Lung Neoplasms/drug therapy ; Lung Neoplasms/genetics ; Male ; Middle Aged ; Prognosis ; Retrospective Studies ; Survival Rate
Czasopismo naukowe
Tytuł:
Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush.
Autorzy:
Fakin A; Eye Hospital, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.
Bonnet C; Institut de l'audition, Institut Pasteur, Université de Paris, INSERM, 75012 Paris, France.
Kurtenbach A; Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, 72076 Tuebingen, Germany.
Mohand-Said S; Institut de la Vision, Sorbonne Université, INSERM, CNRS, 75012 Paris, France.; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Reference Center for Rare Disease REFERET, 75571 Paris, France.
Zobor D; Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, 72076 Tuebingen, Germany.
Stingl K; Center for Ophthalmology, University Eye Hospital, University of Tuebingen, 72076 Tuebingen, Germany.; Center for Rare Eye Diseases, University of Tuebingen, 72076 Tuebingen, Germany.
Testa F; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi Vanvitelli, 80138 Naples, Italy.
Simonelli F; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi Vanvitelli, 80138 Naples, Italy.
Sahel JA; Institut de la Vision, Sorbonne Université, INSERM, CNRS, 75012 Paris, France.; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Reference Center for Rare Disease REFERET, 75571 Paris, France.; Department of Ophthalmology, Fondation Ophtalmologique Adolphe De Rothschild, 75019 Paris, France.; Department of Ophthalmology, The University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA.
Audo I; Institut de la Vision, Sorbonne Université, INSERM, CNRS, 75012 Paris, France.; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Reference Center for Rare Disease REFERET, 75571 Paris, France.
Zrenner E; Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, 72076 Tuebingen, Germany.
Hawlina M; Eye Hospital, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.
Petit C; Institut de l'audition, Institut Pasteur, Université de Paris, INSERM, 75012 Paris, France.; Collège de France, 75231 Paris, France.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2021 Sep 26; Vol. 22 (19). Date of Electronic Publication: 2021 Sep 26.
Typ publikacji:
Comparative Study; Journal Article
MeSH Terms:
Loss of Function Mutation*
Extracellular Matrix Proteins/*genetics
Receptors, G-Protein-Coupled/*genetics
Retinitis Pigmentosa/*genetics
Usher Syndromes/*genetics
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Middle Aged ; Retinitis Pigmentosa/diagnostic imaging ; Retinitis Pigmentosa/epidemiology ; Tomography, Optical Coherence ; Usher Syndromes/diagnostic imaging ; Usher Syndromes/epidemiology
Czasopismo naukowe
Tytuł:
Saturation Mutagenesis of the Transmembrane Region of HokC in Escherichia coli Reveals Its High Tolerance to Mutations.
Autorzy:
Lara Ortiz MT; Department of Biochemistry and Structural Biology, Institute of Cellular Physiology at UNAM, Mexico City 04510, Mexico.
Martinell García V; Department of Biochemistry and Structural Biology, Institute of Cellular Physiology at UNAM, Mexico City 04510, Mexico.
Del Rio G; Department of Biochemistry and Structural Biology, Institute of Cellular Physiology at UNAM, Mexico City 04510, Mexico.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2021 Sep 26; Vol. 22 (19). Date of Electronic Publication: 2021 Sep 26.
Typ publikacji:
Journal Article
MeSH Terms:
Loss of Function Mutation*
Point Mutation*
Bacterial Toxins/*genetics
Escherichia coli/*genetics
Escherichia coli Proteins/*genetics
Membrane Proteins/*genetics
Protein Domains
Czasopismo naukowe
Tytuł:
Age-dependent transition from islet insulin hypersecretion to hyposecretion in mice with the long QT-syndrome loss-of-function mutation Kcnq1-A340V.
Autorzy:
Lubberding AF; Department of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Blegdamsvej 3B, 2200, Copenhagen, Denmark.
Zhang J; Department of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Blegdamsvej 3B, 2200, Copenhagen, Denmark.; Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Lundh M; Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Nielsen TS; Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Søndergaard MS; Department of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Blegdamsvej 3B, 2200, Copenhagen, Denmark.
Villadsen M; Department of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Blegdamsvej 3B, 2200, Copenhagen, Denmark.
Skovhøj EZ; Department of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Blegdamsvej 3B, 2200, Copenhagen, Denmark.
Boer GA; Department of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Blegdamsvej 3B, 2200, Copenhagen, Denmark.; Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Hansen JB; Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Thomsen MB; Department of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Blegdamsvej 3B, 2200, Copenhagen, Denmark.
Treebak JT; Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Holst JJ; Department of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Blegdamsvej 3B, 2200, Copenhagen, Denmark.; Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Kanters JK; Department of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Blegdamsvej 3B, 2200, Copenhagen, Denmark.
Mandrup-Poulsen T; Department of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Blegdamsvej 3B, 2200, Copenhagen, Denmark.
Jespersen T; Department of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Blegdamsvej 3B, 2200, Copenhagen, Denmark.
Emanuelli B; Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Torekov SS; Department of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Blegdamsvej 3B, 2200, Copenhagen, Denmark. .; Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark. .
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Źródło:
Scientific reports [Sci Rep] 2021 Jun 10; Vol. 11 (1), pp. 12253. Date of Electronic Publication: 2021 Jun 10.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Insulin Secretion*
Loss of Function Mutation*
Insulin/*biosynthesis
Islets of Langerhans/*metabolism
KCNQ1 Potassium Channel/*genetics
Long QT Syndrome/*metabolism
Long QT Syndrome/*physiopathology
Alleles ; Amino Acid Substitution ; Animals ; Disease Models, Animal ; Disease Susceptibility ; Glucose/metabolism ; Long QT Syndrome/etiology ; Mice
Czasopismo naukowe
Tytuł:
Dystonin loss-of-function leads to impaired autophagosome-endolysosome pathway dynamics.
Autorzy:
Lynch-Godrei A; Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, ON K1H 8L6, Canada.; Department of Cellular and Molecular Medicine, Faculty of Medicine, University of Ottawa, Ottawa, ON K1H 8M5, Canada.
Repentigny Y; Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, ON K1H 8L6, Canada.
Ferrier A; Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, ON K1H 8L6, Canada.; Department of Cellular and Molecular Medicine, Faculty of Medicine, University of Ottawa, Ottawa, ON K1H 8M5, Canada.
Gagnon S; Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, ON K1H 8L6, Canada.
Kothary R; Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, ON K1H 8L6, Canada.; Department of Cellular and Molecular Medicine, Faculty of Medicine, University of Ottawa, Ottawa, ON K1H 8M5, Canada.; Department of Biochemistry, Microbiology, and Immunology, Faculty of Medicine, University of Ottawa, Ottawa, ON K1H 8M5, Canada.; Department of Medicine, University of Ottawa, Ottawa, ON K1H 8M5, Canada.; Centre for Neuromuscular Disease, University of Ottawa, ON K1H 8M5, Canada.
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Źródło:
Biochemistry and cell biology = Biochimie et biologie cellulaire [Biochem Cell Biol] 2021 Jun; Vol. 99 (3), pp. 364-373. Date of Electronic Publication: 2020 Dec 21.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Autophagy*
Loss of Function Mutation*
Autophagosomes/*pathology
Dystonin/*physiology
Endosomes/*pathology
Lysosomes/*pathology
Neurons/*pathology
Animals ; Autophagosomes/metabolism ; Endosomes/metabolism ; Ganglia, Spinal/metabolism ; Ganglia, Spinal/pathology ; Lysosomes/metabolism ; Mice ; Mice, Inbred C57BL ; Mice, Knockout ; Neurons/metabolism
Czasopismo naukowe
Tytuł:
Hemi- and Homozygous Loss-of-Function Mutations in DSG2 (Desmoglein-2) Cause Recessive Arrhythmogenic Cardiomyopathy with an Early Onset.
Autorzy:
Brodehl A; Erich and Hanna Klessmann Institute, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany.
Meshkov A; National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia.
Myasnikov R; National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia.
Kiseleva A; National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia.
Kulikova O; National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia.
Klauke B; Erich and Hanna Klessmann Institute, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany.
Sotnikova E; National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia.
Stanasiuk C; Erich and Hanna Klessmann Institute, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany.
Divashuk M; National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia.
Pohl GM; Erich and Hanna Klessmann Institute, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany.
Kudryavtseva M; National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia.
Klingel K; Cardiopathology, Institute for Pathology and Neuropathology, University Hospital Tuebingen, Liebemeister-strasse 8, 72076 Tuebingen, Germany.
Gerull B; Comprehensive Heart Failure Center (CHFC) and Department of Internal Medicine I, University Hospital Würzburg, 97080 Würzburg, Germany.
Zharikova A; National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia.
Gummert J; Erich and Hanna Klessmann Institute, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany.; Clinic for Thoracic and Cardiovascular Surgery, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany.
Koretskiy S; National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia.
Schubert S; Center for Congenital Heart Defects, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany.
Mershina E; Medical Research and Educational Center, Lomonosov Moscow State University, Lomonosovsky Prospect 27, Building 10, 119991 Moscow, Russia.
Gärtner A; Erich and Hanna Klessmann Institute, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany.
Pilus P; Medical Research and Educational Center, Lomonosov Moscow State University, Lomonosovsky Prospect 27, Building 10, 119991 Moscow, Russia.
Laser KT; Center for Congenital Heart Defects, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany.
Sinitsyn V; Medical Research and Educational Center, Lomonosov Moscow State University, Lomonosovsky Prospect 27, Building 10, 119991 Moscow, Russia.
Boytsov S; National Medical Research Center for Cardiology, 3-ya Cherepkovskaya Street 15A, 121552 Moscow, Russia.
Drapkina O; National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia.
Milting H; Erich and Hanna Klessmann Institute, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2021 Apr 06; Vol. 22 (7). Date of Electronic Publication: 2021 Apr 06.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Hemizygote*
Homozygote*
Loss of Function Mutation*
Polymorphism, Single Nucleotide*
Arrhythmogenic Right Ventricular Dysplasia/*genetics
Desmoglein 2/*genetics
Arrhythmogenic Right Ventricular Dysplasia/diagnostic imaging ; Female ; Humans ; Male
Czasopismo naukowe
Tytuł:
Clinical manifestation and phenotypic analysis of novel gene mutation in 28 Chinese children with hereditary spherocytosis.
Autorzy:
Xie F; Department of Pediatrics, Changhai Hospital, Naval Military Medical University, Shanghai, China.
Lei L; Department of Pediatrics, Changhai Hospital, Naval Military Medical University, Shanghai, China.
Cai B; Department of Pediatrics, Changhai Hospital, Naval Military Medical University, Shanghai, China.
Gan L; Department of Pediatrics, Changhai Hospital, Naval Military Medical University, Shanghai, China.
Gao Y; Department of Pediatrics, Changhai Hospital, Naval Military Medical University, Shanghai, China.
Liu X; Department of Pediatrics, Changhai Hospital, Naval Military Medical University, Shanghai, China.
Zhou L; Department of Pediatrics, Changhai Hospital, Naval Military Medical University, Shanghai, China.
Jiang J; Department of Pediatrics, Changhai Hospital, Naval Military Medical University, Shanghai, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 Apr; Vol. 9 (4), pp. e1577. Date of Electronic Publication: 2021 Feb 23.
Typ publikacji:
Journal Article
MeSH Terms:
Loss of Function Mutation*
Phenotype*
Spherocytosis, Hereditary/*genetics
Anion Exchange Protein 1, Erythrocyte/genetics ; Ankyrins/genetics ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Spectrin/genetics ; Spherocytosis, Hereditary/pathology
Czasopismo naukowe
Tytuł:
A loss-of-function mutation in RORB disrupts saltatorial locomotion in rabbits.
Autorzy:
Carneiro M; CIBIO/InBIO, Centro de Investigação em Biodiversidade e Recursos Genéticos, Universidade do Porto, Vairão, Portugal.; Departamento de Biologia, Faculdade de Ciências, Universidade do Porto, Porto, Portugal.
Vieillard J; Department of Neuroscience, Uppsala University, Uppsala, Sweden.
Andrade P; CIBIO/InBIO, Centro de Investigação em Biodiversidade e Recursos Genéticos, Universidade do Porto, Vairão, Portugal.
Boucher S; Labovet Conseil (Réseau Cristal), Les Herbiers Cedex, France.
Afonso S; CIBIO/InBIO, Centro de Investigação em Biodiversidade e Recursos Genéticos, Universidade do Porto, Vairão, Portugal.
Blanco-Aguiar JA; CIBIO/InBIO, Centro de Investigação em Biodiversidade e Recursos Genéticos, Universidade do Porto, Vairão, Portugal.
Santos N; CIBIO/InBIO, Centro de Investigação em Biodiversidade e Recursos Genéticos, Universidade do Porto, Vairão, Portugal.
Branco J; Departamento de Biologia, Faculdade de Ciências, Universidade do Porto, Porto, Portugal.
Esteves PJ; CIBIO/InBIO, Centro de Investigação em Biodiversidade e Recursos Genéticos, Universidade do Porto, Vairão, Portugal.; Departamento de Biologia, Faculdade de Ciências, Universidade do Porto, Porto, Portugal.
Ferrand N; CIBIO/InBIO, Centro de Investigação em Biodiversidade e Recursos Genéticos, Universidade do Porto, Vairão, Portugal.; Departamento de Biologia, Faculdade de Ciências, Universidade do Porto, Porto, Portugal.; Department of Zoology, Faculty of Sciences, University of Johannesburg, Auckland, South Africa.
Kullander K; Department of Neuroscience, Uppsala University, Uppsala, Sweden.
Andersson L; Science for Life Laboratory Uppsala, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.; Department of Veterinary Integrative Biosciences, College of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, Texas, United States of America.; Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, Uppsala, Sweden.
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Źródło:
PLoS genetics [PLoS Genet] 2021 Mar 25; Vol. 17 (3), pp. e1009429. Date of Electronic Publication: 2021 Mar 25 (Print Publication: 2021).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Loss of Function Mutation*
Gait/*genetics
Locomotion/*genetics
Nuclear Receptor Subfamily 1, Group F, Member 2/*genetics
Animals ; Base Sequence ; Chromosome Mapping ; Genetic Association Studies ; Genome ; Genomics/methods ; Interneurons/metabolism ; Phenotype ; RNA Splice Sites ; Rabbits ; Spinal Cord/metabolism
Czasopismo naukowe
Tytuł:
Molecular characterisation of rare loss-of-function NPAS3 and NPAS4 variants identified in individuals with neurodevelopmental disorders.
Autorzy:
Rossi JJ; Department of Molecular and Biomedical Science, University of Adelaide, Adelaide, 5005, Australia.
Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Clinical Genomics, Baylor Genetics Laboratory, Houston, TX, 77030, USA.
Chan KM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
Streff H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
Nankivell V; Department of Molecular and Biomedical Science, University of Adelaide, Adelaide, 5005, Australia.
Peet DJ; Department of Molecular and Biomedical Science, University of Adelaide, Adelaide, 5005, Australia.
Whitelaw ML; Department of Molecular and Biomedical Science, University of Adelaide, Adelaide, 5005, Australia.
Bersten DC; Department of Molecular and Biomedical Science, University of Adelaide, Adelaide, 5005, Australia. .
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Źródło:
Scientific reports [Sci Rep] 2021 Mar 23; Vol. 11 (1), pp. 6602. Date of Electronic Publication: 2021 Mar 23.
Typ publikacji:
Journal Article
MeSH Terms:
Loss of Function Mutation*
Basic Helix-Loop-Helix Transcription Factors/*genetics
Developmental Disabilities/*genetics
Aryl Hydrocarbon Receptor Nuclear Translocator/metabolism ; Basic Helix-Loop-Helix Transcription Factors/metabolism ; HEK293 Cells ; Humans ; Protein Binding
Czasopismo naukowe
Tytuł:
Novel CARMIL2 loss-of-function variants are associated with pediatric inflammatory bowel disease.
Autorzy:
Bosa L; Department of Woman's and Child's Health, University of Padova, 35128, Padua, Italy.
Batura V; SickKids Inflammatory Bowel Disease Centre, The Hospital for Sick Children, 555 University Ave, Toronto, ON, M5G 1X8, Canada.
Colavito D; Research & Innovation (R&I Genetics) Srl, C.so Stati Uniti 4, 35127, Padua, Italy.
Fiedler K; SickKids Inflammatory Bowel Disease Centre, The Hospital for Sick Children, 555 University Ave, Toronto, ON, M5G 1X8, Canada.
Gaio P; Department of Woman's and Child's Health, University of Padova, 35128, Padua, Italy.
Guo C; SickKids Inflammatory Bowel Disease Centre, The Hospital for Sick Children, 555 University Ave, Toronto, ON, M5G 1X8, Canada.
Li Q; SickKids Inflammatory Bowel Disease Centre, The Hospital for Sick Children, 555 University Ave, Toronto, ON, M5G 1X8, Canada.
Marzollo A; Pediatric Hematology, Oncology and Stem Cell Transplant Division, Padova University Hospital, 35128, Padua, Italy.; Fondazione Città della Speranza, Istituto di Ricerca Pediatrica, 35127, Padua, Italy.
Mescoli C; Department of Medicine, Padova University Hospital, 35128, Padua, Italy.
Nambu R; SickKids Inflammatory Bowel Disease Centre, The Hospital for Sick Children, 555 University Ave, Toronto, ON, M5G 1X8, Canada.; Division of Gastroenterology and Hepatology, Saitama Children's Medical Center, 1-2 Shintoshin, Chuo-ku, Saitama, Saitama, 330-8777, Japan.
Pan J; SickKids Inflammatory Bowel Disease Centre, The Hospital for Sick Children, 555 University Ave, Toronto, ON, M5G 1X8, Canada.
Perilongo G; Department of Woman's and Child's Health, University of Padova, 35128, Padua, Italy.
Warner N; SickKids Inflammatory Bowel Disease Centre, The Hospital for Sick Children, 555 University Ave, Toronto, ON, M5G 1X8, Canada.
Zhang S; SickKids Inflammatory Bowel Disease Centre, The Hospital for Sick Children, 555 University Ave, Toronto, ON, M5G 1X8, Canada.
Kotlarz D; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, Munich, Germany.
Klein C; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, Munich, Germany.
Snapper SB; Division of Gastroenterology, Hepatology and Nutrition, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Division of Gastroenterology, Brigham and Women's Hospital, Boston, MA, USA.
Walters TD; SickKids Inflammatory Bowel Disease Centre, The Hospital for Sick Children, 555 University Ave, Toronto, ON, M5G 1X8, Canada.; Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, ON, M5G1X8, Canada.
Leon A; Research & Innovation (R&I Genetics) Srl, C.so Stati Uniti 4, 35127, Padua, Italy.
Griffiths AM; SickKids Inflammatory Bowel Disease Centre, The Hospital for Sick Children, 555 University Ave, Toronto, ON, M5G 1X8, Canada.; Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, ON, M5G1X8, Canada.
Cananzi M; Department of Woman's and Child's Health, University of Padova, 35128, Padua, Italy.
Muise AM; SickKids Inflammatory Bowel Disease Centre, The Hospital for Sick Children, 555 University Ave, Toronto, ON, M5G 1X8, Canada. .; Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, ON, M5G1X8, Canada. .; Cell Biology Program, Research Institute, The Hospital for Sick Children, Toronto, ON, M5G0A4, Canada. .
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Źródło:
Scientific reports [Sci Rep] 2021 Mar 15; Vol. 11 (1), pp. 5945. Date of Electronic Publication: 2021 Mar 15.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Genetic Predisposition to Disease*
Loss of Function Mutation*
Inflammatory Bowel Diseases/*etiology
Microfilament Proteins/*genetics
Age Factors ; Alleles ; Child ; Child, Preschool ; Colonoscopy ; Consanguinity ; DNA Mutational Analysis ; Female ; Genetic Association Studies ; Genotype ; Humans ; Immunohistochemistry ; Inflammatory Bowel Diseases/diagnostic imaging ; Inflammatory Bowel Diseases/metabolism ; Inflammatory Bowel Diseases/pathology ; Male ; Pedigree
Czasopismo naukowe
Tytuł:
Disruption of pathways regulated by Integrator complex in Galloway-Mowat syndrome due to WDR73 mutations.
Autorzy:
Tilley FC; Laboratory of Hereditary Kidney Diseases, Imagine Institute, INSERM UMR 1163, Université de Paris, 75015, Paris, France.
Arrondel C; Laboratory of Hereditary Kidney Diseases, Imagine Institute, INSERM UMR 1163, Université de Paris, 75015, Paris, France.
Chhuon C; Proteomics Platform 3P5-Necker, Structure Fédérative de Recherche Necker, INSERM US24/CNRS UMS 3633, Université de Paris, 75015, Paris, France.
Boisson M; Laboratory of Hereditary Kidney Diseases, Imagine Institute, INSERM UMR 1163, Université de Paris, 75015, Paris, France.
Cagnard N; Bioinformatic Core Facility, Structure Fédérative de Recherche Necker, INSERM US24/CNRS UMS 3633, Imagine Institute, Université de Paris, 75015, Paris, France.
Parisot M; Genomics Core Facility, Imagine Institute, Structure Fédérative de Recherche Necker, INSERM U1163 and INSERM US24/CNRS UMS3633, Université de Paris, 75015, Paris, France.
Menara G; Laboratory of Hereditary Kidney Diseases, Imagine Institute, INSERM UMR 1163, Université de Paris, 75015, Paris, France.
Lefort N; iPSC Core Facility, Imagine Institute, INSERM UMR 1163, Université de Paris, 75015, Paris, France.
Guerrera IC; Proteomics Platform 3P5-Necker, Structure Fédérative de Recherche Necker, INSERM US24/CNRS UMS 3633, Université de Paris, 75015, Paris, France.
Bole-Feysot C; Genomics Core Facility, Imagine Institute, Structure Fédérative de Recherche Necker, INSERM U1163 and INSERM US24/CNRS UMS3633, Université de Paris, 75015, Paris, France.
Benmerah A; Laboratory of Hereditary Kidney Diseases, Imagine Institute, INSERM UMR 1163, Université de Paris, 75015, Paris, France.
Antignac C; Laboratory of Hereditary Kidney Diseases, Imagine Institute, INSERM UMR 1163, Université de Paris, 75015, Paris, France.; Département de Génétique, AP-HP, Hôpital Necker-Enfants Malades, 75015, Paris, France.
Mollet G; Laboratory of Hereditary Kidney Diseases, Imagine Institute, INSERM UMR 1163, Université de Paris, 75015, Paris, France. .
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Źródło:
Scientific reports [Sci Rep] 2021 Mar 08; Vol. 11 (1), pp. 5388. Date of Electronic Publication: 2021 Mar 08.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Loss of Function Mutation*
Hernia, Hiatal/*metabolism
Microcephaly/*metabolism
Nephrosis/*metabolism
Proteins/*metabolism
Endoribonucleases/genetics ; Endoribonucleases/metabolism ; HEK293 Cells ; Hernia, Hiatal/genetics ; Humans ; Microcephaly/genetics ; Nephrosis/genetics ; Proteins/genetics ; Signal Transduction
SCR Disease Name:
Galloway Mowat syndrome
Czasopismo naukowe
Tytuł:
Cecr2 mutant mice as a model for human cat eye syndrome.
Autorzy:
Dicipulo R; Department of Biological Sciences, University of Alberta, CW 405 Biological Sciences Building, 11455 Saskatchewan Drive, Edmonton, AB, T6G 2E9, Canada.
Norton KA; Department of Biological Sciences, University of Alberta, CW 405 Biological Sciences Building, 11455 Saskatchewan Drive, Edmonton, AB, T6G 2E9, Canada.
Fairbridge NA; Department of Biological Sciences, University of Alberta, CW 405 Biological Sciences Building, 11455 Saskatchewan Drive, Edmonton, AB, T6G 2E9, Canada.; Office of Professional and Educational Development, Room 2973 Health Sciences Centre, Memorial University, St. John's, NL, A1B 3V6, Canada.
Kibalnyk Y; Department of Biological Sciences, University of Alberta, CW 405 Biological Sciences Building, 11455 Saskatchewan Drive, Edmonton, AB, T6G 2E9, Canada.
Fox SC; Department of Biological Sciences, University of Alberta, CW 405 Biological Sciences Building, 11455 Saskatchewan Drive, Edmonton, AB, T6G 2E9, Canada.
Hornberger LK; Division of Cardiology, Department of Pediatrics and Department of Obstetrics and Gynecology, Women's and Children's Health Research Institute, University of Alberta, Edmonton, Canada.
McDermid HE; Department of Biological Sciences, University of Alberta, CW 405 Biological Sciences Building, 11455 Saskatchewan Drive, Edmonton, AB, T6G 2E9, Canada. .
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Źródło:
Scientific reports [Sci Rep] 2021 Feb 04; Vol. 11 (1), pp. 3111. Date of Electronic Publication: 2021 Feb 04.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Disease Models, Animal*
Loss of Function Mutation*
Chromosome Disorders/*genetics
Coloboma/*genetics
Eye Abnormalities/*genetics
Heart Diseases/*genetics
Transcription Factors/*genetics
Aneuploidy ; Animals ; Bone and Bones/metabolism ; Bone and Bones/pathology ; Chromosome Disorders/metabolism ; Chromosome Disorders/pathology ; Chromosome Duplication ; Chromosomes, Human, Pair 22/chemistry ; Chromosomes, Human, Pair 22/genetics ; Chromosomes, Human, Pair 22/metabolism ; Coloboma/metabolism ; Coloboma/pathology ; Embryo, Mammalian ; Eye Abnormalities/metabolism ; Eye Abnormalities/pathology ; Female ; Gene Expression ; Heart Diseases/metabolism ; Heart Diseases/pathology ; Humans ; Kidney/metabolism ; Kidney/pathology ; Male ; Mice ; Mice, Inbred BALB C ; Mice, Inbred C57BL ; Mice, Knockout ; Penetrance ; Species Specificity ; Transcription Factors/deficiency
SCR Disease Name:
Schmid-Fraccaro syndrome
Czasopismo naukowe
Tytuł:
Loss-of-function or gain-of-function variations in VINCULIN (VCL) are risk factors of human neural tube defects.
Autorzy:
Wang Y; Obstetrics & Gynecology Hospital, Institute of Reproduction & Development, Fudan University, Shanghai, China.
Qin Y; State Key Laboratory of Genetic, Engineering at School of Life Sciences, Fudan University, Shanghai, China.
Peng R; Obstetrics & Gynecology Hospital, Institute of Reproduction & Development, Fudan University, Shanghai, China.
Wang H; Obstetrics & Gynecology Hospital, Institute of Reproduction & Development, Fudan University, Shanghai, China.; State Key Laboratory of Genetic, Engineering at School of Life Sciences, Fudan University, Shanghai, China.; Key Laboratory of Reproduction Regulation of NPFPC, Collaborative Innovation Center of Genetics and Development, Fudan University, Shanghai, China.; Collaborative Innovation Center for Genetics and Development, School of Life Sciences, Fudan University, Shanghai, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 Feb; Vol. 9 (2), pp. e1563. Date of Electronic Publication: 2021 Jan 24.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Gain of Function Mutation*
Loss of Function Mutation*
Neural Tube Defects/*genetics
Vinculin/*genetics
Aborted Fetus/abnormalities ; Aborted Fetus/metabolism ; Adolescent ; Female ; Genetic Predisposition to Disease ; HEK293 Cells ; Humans ; Infant ; Male ; Neural Tube Defects/metabolism ; Neural Tube Defects/pathology ; Phenotype
Czasopismo naukowe

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