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Wyszukujesz frazę ""Human molecular genetics [Hum Mol Genet] NLMUID: 9208958"" wg kryterium: JN


Tytuł :
MSH2 knock-down shows CTG repeat stability and concomitant upstream demethylation at the DMPK locus in myotonic dystrophy type 1 human embryonic stem cells.
Autorzy :
Franck S; Department Reproduction and Genetics, Vrije Universiteit Brussel, Brussels, 1090, Belgium.
Barbé L; Center for systems and Therapeutics, Gladstone Institutes, San Francisco, California, United States.
Ardui S; Center of Human Genetics, University Hospital Leuven, KU Leuven, Leuven, 3000, Belgium.
De Vlaeminck Y; Laboratory for Molecular and Cellular Therapy, Vrije Universiteit Brussel, Brussels, 1090, Belgium.
Allemeersch J; Genomics Core, UZ Leuven, Leuven, 3000, Belgium.
Dziedzicka D; Department Reproduction and Genetics, Vrije Universiteit Brussel, Brussels, 1090, Belgium.
Spits C; Department Reproduction and Genetics, Vrije Universiteit Brussel, Brussels, 1090, Belgium.
Vanroye F; Laboratory HIV/STD, Institute of Tropical Medicine Antwerp, Antwerp, 2000, Belgium.
Hilven P; Department Reproduction and Genetics, Vrije Universiteit Brussel, Brussels, 1090, Belgium.
Duqué G; Department Reproduction and Genetics, Vrije Universiteit Brussel, Brussels, 1090, Belgium.
Vermeesch JR; Center of Human Genetics, University Hospital Leuven, KU Leuven, Leuven, 3000, Belgium.
Gheldof A; Department Reproduction and Genetics, Vrije Universiteit Brussel, Brussels, 1090, Belgium.; Center of Medical Genetics, UZ Brussel, Brussels, 1090, Belgium.
Sermon K; Department Reproduction and Genetics, Vrije Universiteit Brussel, Brussels, 1090, Belgium.
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Źródło :
Human molecular genetics [Hum Mol Genet] 2020 Nov 26. Date of Electronic Publication: 2020 Nov 26.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Coenzyme Q10 modulates sulfide metabolism and links the mitochondrial respiratory chain to pathways associated to one carbon metabolism.
Autorzy :
González-García P; Instituto de Biotecnología, Centro de Investigación Biomédica, Universidad de Granada, Granada 18016, Spain.; Departamento de Fisiología, Facultad de Medicina, Universidad de Granada, Granada 18016, Spain.
Hidalgo-Gutiérrez A; Instituto de Biotecnología, Centro de Investigación Biomédica, Universidad de Granada, Granada 18016, Spain.; Departamento de Fisiología, Facultad de Medicina, Universidad de Granada, Granada 18016, Spain.
Mascaraque C; Departamento de Fisiología, Facultad de Medicina, Universidad de Granada, Granada 18016, Spain.
Barriocanal-Casado E; Instituto de Biotecnología, Centro de Investigación Biomédica, Universidad de Granada, Granada 18016, Spain.; Departamento de Fisiología, Facultad de Medicina, Universidad de Granada, Granada 18016, Spain.
Bakkali M; Departamento de Genética, Facultad de Ciencias, Universidad de Granada, Granada 18071, Spain.
Ziosi M; Department of Neurology, Columbia University Medical Center, New York 10032, NY, USA.
Abdihankyzy UB; Department of Biophysics and Biomedicine, Al-Farabi Kazakh National University, Almaty 050040, Kazakhstan.
Sánchez-Hernández S; Genomic Medicine Department, Centre for Genomics and Oncological Research, Granada 18007, Spain.
Escames G; Instituto de Biotecnología, Centro de Investigación Biomédica, Universidad de Granada, Granada 18016, Spain.; Departamento de Fisiología, Facultad de Medicina, Universidad de Granada, Granada 18016, Spain.
Prokisch H; Institute of Human Genetics, Technische Universität München, München 81675, Germany.
Martín F; Genomic Medicine Department, Centre for Genomics and Oncological Research, Granada 18007, Spain.
Quinzii CM; Department of Neurology, Columbia University Medical Center, New York 10032, NY, USA.
López LC; Instituto de Biotecnología, Centro de Investigación Biomédica, Universidad de Granada, Granada 18016, Spain.; Departamento de Fisiología, Facultad de Medicina, Universidad de Granada, Granada 18016, Spain.
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Źródło :
Human molecular genetics [Hum Mol Genet] 2020 Nov 25; Vol. 29 (19), pp. 3296-3311.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
A novel mouse model for pyridoxine-dependent epilepsy due to antiquitin deficiency.
Autorzy :
Al-Shekaili HH; British Columbia Children's Hospital Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
Petkau TL; Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
Pena I; Whitehead Institute for Biomedical Research, Cambridge, MA 02142, USA.
Lengyell TC; Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
Verhoeven-Duif NM; Department of Genetics, University Medical Center, Utrecht, The Netherlands.
Ciapaite J; Department of Genetics, University Medical Center, Utrecht, The Netherlands.
Bosma M; Department of Genetics, University Medical Center, Utrecht, The Netherlands.
van Faassen M; Department of Laboratory Medicine, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Kema IP; Department of Laboratory Medicine, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Horvath G; Division of Biochemical Diseases, Department of Pediatrics, University of British Columbia and BC Children's Hospital, Vancouver, BC, Canada.
Ross C; Faculty of Pharmaceutical Sciences, University of British Columbia, Vancouver, BC, Canada.
Simpson EM; British Columbia Children's Hospital Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
Friedman JM; British Columbia Children's Hospital Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
van Karnebeek C; Department of Pediatrics, Centre for Molecular Medicine and Therapeutics, BC Children's Research Institute, University of British Columbia, Vancouver, BC, Canada.; Department of Pediatrics, Emma Children's Hospital, Amsterdam University Medical Centres, Amsterdam, The Netherlands.; Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Centre, Nijmegen, The Netherlands.
Leavitt BR; Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
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Źródło :
Human molecular genetics [Hum Mol Genet] 2020 Nov 25; Vol. 29 (19), pp. 3266-3284.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Genetic determinants of increased body mass index mediate the effect of smoking on increased risk for type 2 diabetes but not coronary artery disease.
Autorzy :
Thom CS; Division of Neonatology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Systems Pharmacology and Translational Therapeutics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Institute of Translational Medicine and Therapeutics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Ding Z; Department of Systems Pharmacology and Translational Therapeutics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Institute of Translational Medicine and Therapeutics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Biostatistics, Epidemiology and Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Levin MG; Corporal Michael J. Crescenz VA Medical Center, Philadelphia, PA 19104, USA.; Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Division of Cardiovascular Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Damrauer SM; Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Division of Cardiovascular Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Lee KM; VA Informatics and Computing Infrastructure, VA Salt Lake City Health Care System, Salt Lake City, UT 84148, USA.
Lynch J; VA Informatics and Computing Infrastructure, VA Salt Lake City Health Care System, Salt Lake City, UT 84148, USA.; University of Massachusetts College of Nursing & Health Sciences, Boston, MA 02125, USA.
Chang KM; Corporal Michael J. Crescenz VA Medical Center, Philadelphia, PA 19104, USA.; Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Tsao PS; VA Palo Alto Health Care System, Palo Alto, CA 94304, USA.; Department of Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA.
Cho K; VA Boston Healthcare System, Boston, MA 02130, USA.; Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA.
Wilson PWF; Atlanta VA Health Care System, Decatur, GA 30033, USA.; Division of Cardiology, Emory University School of Medicine, Atlanta, GA 30322, USA.
Assimes TL; VA Palo Alto Health Care System, Palo Alto, CA 94304, USA.; Department of Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA.
Sun YV; Atlanta VA Health Care System, Decatur, GA 30033, USA.; Department of Epidemiology, Emory University Rollins School of Public Health, Atlanta, GA 30322, USA.
O'Donnell CJ; VA Boston Healthcare System, Boston, MA 02130, USA.; Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA.; Department of Medicine, Harvard Medical School, Boston, MA 02115, USA.
Vujkovic M; Corporal Michael J. Crescenz VA Medical Center, Philadelphia, PA 19104, USA.; Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Voight BF; Department of Systems Pharmacology and Translational Therapeutics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Institute of Translational Medicine and Therapeutics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Corporal Michael J. Crescenz VA Medical Center, Philadelphia, PA 19104, USA.
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Corporate Authors :
VA Million Veteran Program
Źródło :
Human molecular genetics [Hum Mol Genet] 2020 Nov 25; Vol. 29 (19), pp. 3327-3337.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Brain ventricular enlargement in human and murine acute intermittent porphyria.
Autorzy :
Jericó D; Hepatology Program, Centre for Applied Medical Research (CIMA), University of Navarra, 31008 Pamplona, Spain.
Luis EO; Instituto de Investigación Sanitaria de Navarra (IdiSNA), 31008 Pamplona, Spain.; Neuroimaging Laboratory, CIMA, University of Navarra, 31008 Pamplona, Spain.; Theory and Methods Department Faculty of Education and Psychology, University of Navarra, 31008 Pamplona, Spain.
Cussó L; Instituto de Investigación Sanitaria Gregorio Marañón, 28007 Madrid, Spain.; Centro de Investigación Biomédica en Red de Salud Mental (CIBERSAM), 28029 Madrid, Spain.; Departamento de Bioingeniería e Ingeniería Aeroespacial, Universidad Carlos III de Madrid, 28911 Leganes, Spain.; Radiology, Centro Nacional de Investigaciones Cardiovasculares (CNIC), 28029 Madrid, Spain.
Fernández-Seara MA; Instituto de Investigación Sanitaria de Navarra (IdiSNA), 31008 Pamplona, Spain.; Radiology, Clínica Universidad de Navarra School of Medicine Hospital, 31008 Pamplona, Spain.
Morales X; Instituto de Investigación Sanitaria de Navarra (IdiSNA), 31008 Pamplona, Spain.; Imaging Platform, CIMA, University of Navarra, 31008 Pamplona, Spain.
Córdoba KM; Hepatology Program, Centre for Applied Medical Research (CIMA), University of Navarra, 31008 Pamplona, Spain.
Benito M; Instituto de Investigación Sanitaria Gregorio Marañón, 28007 Madrid, Spain.
Sampedro A; Hepatology Program, Centre for Applied Medical Research (CIMA), University of Navarra, 31008 Pamplona, Spain.
Larriva M; Department of Pharmacology and Toxicology, University of Navarra, 31008 Pamplona, Spain.
Ramírez MJ; Instituto de Investigación Sanitaria de Navarra (IdiSNA), 31008 Pamplona, Spain.; Department of Pharmacology and Toxicology, University of Navarra, 31008 Pamplona, Spain.
de Salamanca RE; Research Center, Hospital Universitario 12 de Octubre, Universidad Complutense, 28041 Madrid, Spain.
Ortiz-de-Solorzano C; Instituto de Investigación Sanitaria de Navarra (IdiSNA), 31008 Pamplona, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), 28029 Madrid, Spain.; Solid Tumors and Biomarkers Program, CIMA, University of Navarra, 31008 Pamplona, Spain.
Alegre M; Neurophysiology Laboratory, Neuroscience Area, CIMA and Clínica Universidad de Navarra School of Medicine Hospital, University of Navarra, 31008 Pamplona, Spain.
Prieto J; Hepatology Program, Centre for Applied Medical Research (CIMA), University of Navarra, 31008 Pamplona, Spain.; Instituto de Investigación Sanitaria de Navarra (IdiSNA), 31008 Pamplona, Spain.
Lanciego JL; Instituto de Investigación Sanitaria de Navarra (IdiSNA), 31008 Pamplona, Spain.; Neurosciences Department, CIMA, University of Navarra, 31008 Pamplona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNed), Instituto de Salud Carlos III, 28029 Madrid, Spain.
D'Avola D; Instituto de Investigación Sanitaria de Navarra (IdiSNA), 31008 Pamplona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREhd), Spain. Instituto de Salud Carlos III, 28029 Madrid, Spain.; Liver Unit, Clínica Universidad de Navarra, 31008 Pamplona, Spain.
González-Aseguinolaza G; Instituto de Investigación Sanitaria de Navarra (IdiSNA), 31008 Pamplona, Spain.; Gene Therapy and regulation of Gene Expression program, CIMA, University of Navarra, 31008 Pamplona, Spain.
Pastor MA; Instituto de Investigación Sanitaria de Navarra (IdiSNA), 31008 Pamplona, Spain.; Neuroimaging Laboratory, CIMA, University of Navarra, 31008 Pamplona, Spain.
Desco M; Instituto de Investigación Sanitaria Gregorio Marañón, 28007 Madrid, Spain.; Centro de Investigación Biomédica en Red de Salud Mental (CIBERSAM), 28029 Madrid, Spain.
Fontanellas A; Hepatology Program, Centre for Applied Medical Research (CIMA), University of Navarra, 31008 Pamplona, Spain.; Instituto de Investigación Sanitaria de Navarra (IdiSNA), 31008 Pamplona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBEREhd), Spain. Instituto de Salud Carlos III, 28029 Madrid, Spain.
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Źródło :
Human molecular genetics [Hum Mol Genet] 2020 Nov 25; Vol. 29 (19), pp. 3211-3223.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Dystroglycan regulates proper expression, submembranous localization and subsequent phosphorylation of Dp71 through physical interaction.
Autorzy :
Fujimoto T; Department of Pathology and Applied Neurobiology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto 602-8566, Japan.
Yaoi T; Department of Pathology and Applied Neurobiology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto 602-8566, Japan.
Tanaka H; Department of Biomedical Sciences, College of Life Sciences, Ritsumeikan University, Kusatsu, Shiga 525-8577, Japan.
Itoh K; Department of Pathology and Applied Neurobiology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto 602-8566, Japan.
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Źródło :
Human molecular genetics [Hum Mol Genet] 2020 Nov 25; Vol. 29 (19), pp. 3312-3326.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Specific ZNF274 binding interference at SNORD116 activates the maternal transcripts in Prader-Willi syndrome neurons.
Autorzy :
Langouët M; Department of Genetics and Genome Sciences, University of Connecticut School of Medicine, Farmington, CT 06030, USA.
Gorka D; Department of Genetics and Genome Sciences, University of Connecticut School of Medicine, Farmington, CT 06030, USA.
Orniacki C; Department of Genetics and Genome Sciences, University of Connecticut School of Medicine, Farmington, CT 06030, USA.
Dupont-Thibert CM; Department of Genetics and Genome Sciences, University of Connecticut School of Medicine, Farmington, CT 06030, USA.
Chung MS; Department of Genetics and Genome Sciences, University of Connecticut School of Medicine, Farmington, CT 06030, USA.
Glatt-Deeley HR; Department of Genetics and Genome Sciences, University of Connecticut School of Medicine, Farmington, CT 06030, USA.
Germain N; Department of Genetics and Genome Sciences, University of Connecticut School of Medicine, Farmington, CT 06030, USA.
Crandall LJ; Department of Genetics and Genome Sciences, University of Connecticut School of Medicine, Farmington, CT 06030, USA.
Cotney JL; Department of Genetics and Genome Sciences, University of Connecticut School of Medicine, Farmington, CT 06030, USA.; Institute for Systems Genomics, University of Connecticut, Farmington, CT 06030, USA.
Stoddard CE; Department of Genetics and Genome Sciences, University of Connecticut School of Medicine, Farmington, CT 06030, USA.
Lalande M; Department of Genetics and Genome Sciences, University of Connecticut School of Medicine, Farmington, CT 06030, USA.; Institute for Systems Genomics, University of Connecticut, Farmington, CT 06030, USA.
Chamberlain SJ; Department of Genetics and Genome Sciences, University of Connecticut School of Medicine, Farmington, CT 06030, USA.; Institute for Systems Genomics, University of Connecticut, Farmington, CT 06030, USA.
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Źródło :
Human molecular genetics [Hum Mol Genet] 2020 Nov 25; Vol. 29 (19), pp. 3285-3295.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Corrigendum to: The co-chaperone and reductase ERdj5 facilitates rod opsin biogenesis and quality control.
Autorzy :
Athanasiou D; UCL Institute of Ophthalmology, London EC1V 9EL, UK.
Bevilacqua D; UCL Institute of Ophthalmology, London EC1V 9EL, UK.
Aguila M; UCL Institute of Ophthalmology, London EC1V 9EL, UK.
McCulley C; UCL Institute of Ophthalmology, London EC1V 9EL, UK.
Kanuga N; UCL Institute of Ophthalmology, London EC1V 9EL, UK.
Iwawaki T; Advanced Scientific Research Leaders Development Unit, Gunma University, Maebashi, Gunma 371-8511, Japan.
Chapple JP; Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London EC1M6BQ, UK.
Cheetham ME; UCL Institute of Ophthalmology, London EC1V 9EL, UK.
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Źródło :
Human molecular genetics [Hum Mol Genet] 2020 Nov 25; Vol. 29 (19), pp. 3338-3339.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Trem2 promotes anti-inflammatory responses in microglia and is suppressed under pro-inflammatory conditions.
Autorzy :
Liu W; Department of Neuroscience, Physiology and Pharmacology, UCL, London WC1E 6BT, UK.
Taso O; UK Dementia Research Institute at UCL, London WC1E 6BT, UK.
Wang R; Department of Neuroscience, Physiology and Pharmacology, UCL, London WC1E 6BT, UK.
Bayram S; Hitachi Rail Europe Ltd, London EC1N 2PB, UK.
Graham AC; UK Dementia Research Institute at UCL, London WC1E 6BT, UK.
Garcia-Reitboeck P; Department of Neuroinflammation, Institute of Neurology, UCL, London WC1N 1PJ, UK.
Mallach A; Department of Neuroinflammation, Institute of Neurology, UCL, London WC1N 1PJ, UK.
Andrews WD; Department of Cell and Developmental Biology, UCL, London WC1E 6BT, UK.
Piers TM; Department of Neuroinflammation, Institute of Neurology, UCL, London WC1N 1PJ, UK.
Botia JA; Department of Information and Communications Engineering, Universidad de Murcia, Murcia E-30100, Spain.; Department of Neurodegenerative Diseases, Institute of Neurology, UCL, London WC1N 1PJ, UK.
Pocock JM; Department of Neuroinflammation, Institute of Neurology, UCL, London WC1N 1PJ, UK.
Cummings DM; Department of Neuroscience, Physiology and Pharmacology, UCL, London WC1E 6BT, UK.
Hardy J; UK Dementia Research Institute at UCL, London WC1E 6BT, UK.; Department of Neurodegenerative Diseases, Institute of Neurology, UCL, London WC1N 1PJ, UK.
Edwards FA; Department of Neuroscience, Physiology and Pharmacology, UCL, London WC1E 6BT, UK.
Salih DA; Department of Neuroscience, Physiology and Pharmacology, UCL, London WC1E 6BT, UK.; UK Dementia Research Institute at UCL, London WC1E 6BT, UK.
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Źródło :
Human molecular genetics [Hum Mol Genet] 2020 Nov 25; Vol. 29 (19), pp. 3224-3248.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Assembly of the [4Fe-4S] cluster of NFU1 requires the coordinated donation of two [2Fe-2S] clusters from the scaffold proteins, ISCU2 and ISCA1.
Autorzy :
Jain A; Molecular Medicine Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.
Singh A; Molecular Medicine Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.
Maio N; Molecular Medicine Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.
Rouault TA; Molecular Medicine Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.
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Źródło :
Human molecular genetics [Hum Mol Genet] 2020 Nov 25; Vol. 29 (19), pp. 3165-3182.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
LRP2 controls sonic hedgehog-dependent differentiation of cardiac progenitor cells during outflow tract formation.
Autorzy :
Christ A; Max-Delbrueck-Center for Molecular Medicine, 13125 Berlin, Germany.
Marczenke M; Max-Delbrueck-Center for Molecular Medicine, 13125 Berlin, Germany.
Willnow TE; Max-Delbrueck-Center for Molecular Medicine, 13125 Berlin, Germany.
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Źródło :
Human molecular genetics [Hum Mol Genet] 2020 Nov 25; Vol. 29 (19), pp. 3183-3196.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Regulation of telomeric function by DNA methylation differs between humans and mice.
Autorzy :
Toubiana S; Department of Genetics, Rappaport Faculty of Medicine and Research Institute, Technion, Haifa 31096, Israel.
Larom G; Department of Genetics, Rappaport Faculty of Medicine and Research Institute, Technion, Haifa 31096, Israel.
Smoom R; Department of Genetics, The Silberman Institute of Life Sciences, Hebrew University of Jerusalem, Jerusalem 91904, Israel.
Duszynski RJ; Department of Medicine, Section of Hematology Oncology, The University of Chicago, Chicago 60637, USA.
Godley LA; Department of Medicine, Section of Hematology Oncology, The University of Chicago, Chicago 60637, USA.
Francastel C; Université de Paris, Epigénétique et Destin Cellulaire, CNRS, Paris 75013, France.
Velasco G; Université de Paris, Epigénétique et Destin Cellulaire, CNRS, Paris 75013, France.
Selig S; Department of Genetics, Rappaport Faculty of Medicine and Research Institute, Technion, Haifa 31096, Israel.; Laboratory of Molecular Medicine, Rambam Health Care Campus, Haifa 31096, Israel.
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Źródło :
Human molecular genetics [Hum Mol Genet] 2020 Nov 25; Vol. 29 (19), pp. 3197-3210.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Altered Capicua expression drives regional Purkinje neuron vulnerability through ion channel gene dysregulation in spinocerebellar ataxia type 1.
Autorzy :
Chopra R; Medical Scientist Training Program, University of Michigan Medical School, Ann Arbor, MI 48109, USA.; Department of Neurology, University of Michigan Medical School, Ann Arbor, MI 48109, USA.; Department of Neurology, Washington University in St. Louis, Saint Louis, MO 63110, USA.
Bushart DD; Department of Neurology, University of Michigan Medical School, Ann Arbor, MI 48109, USA.; Department of Molecular and Integrative Physiology, University of Michigan, Ann Arbor, MI 48109, USA.; Ohio State University College of Medicine, Columbus, OH 43210, USA.
Cooper JP; Department of Neurology, University of Michigan Medical School, Ann Arbor, MI 48109, USA.; Department of Molecular Biosciences and Institute for Cellular and Molecular Biology, University of Texas at Austin, Austin, TX 78712, USA.
Yellajoshyula D; Department of Neurology, University of Michigan Medical School, Ann Arbor, MI 48109, USA.
Morrison LM; Department of Neurology, University of Michigan Medical School, Ann Arbor, MI 48109, USA.
Huang H; Department of Neurology, University of Michigan Medical School, Ann Arbor, MI 48109, USA.
Handler HP; Department of Laboratory Medicine and Pathology, Institute for Translational Neuroscience, University of Minnesota, Minneapolis, MN 55455, USA.
Man LJ; Department of Neurology, University of Michigan Medical School, Ann Arbor, MI 48109, USA.
Dansithong W; Department of Neurology, University of Utah, Salt Lake City, UT 84132, USA.
Scoles DR; Department of Neurology, University of Utah, Salt Lake City, UT 84132, USA.
Pulst SM; Department of Neurology, University of Utah, Salt Lake City, UT 84132, USA.
Orr HT; Department of Laboratory Medicine and Pathology, Institute for Translational Neuroscience, University of Minnesota, Minneapolis, MN 55455, USA.
Shakkottai VG; Department of Neurology, University of Michigan Medical School, Ann Arbor, MI 48109, USA.; Department of Molecular and Integrative Physiology, University of Michigan, Ann Arbor, MI 48109, USA.
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Źródło :
Human molecular genetics [Hum Mol Genet] 2020 Nov 25; Vol. 29 (19), pp. 3249-3265.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Drug repositioning as a therapeutic strategy for neurodegenerations associated with OPA1 mutations.
Autorzy :
Aleo SJ; Department of Pharmacy and Biotechnology (FABIT), University of Bologna, 40126 Bologna, Italy.
Del Dotto V; Unit of Neurology, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, 40139 Bologna, Italy.
Fogazza M; Department of Pharmacy and Biotechnology (FABIT), University of Bologna, 40126 Bologna, Italy.
Maresca A; IRCCS Istituto delle Scienze Neurologiche di Bologna, 40139 Bologna, Italy.
Lodi T; Department of Chemistry, Life Science and Environmental Sustainability, University of Parma, 43124 Parma, Italy.
Goffrini P; Department of Chemistry, Life Science and Environmental Sustainability, University of Parma, 43124 Parma, Italy.
Ghelli A; Department of Pharmacy and Biotechnology (FABIT), University of Bologna, 40126 Bologna, Italy.
Rugolo M; Department of Pharmacy and Biotechnology (FABIT), University of Bologna, 40126 Bologna, Italy.
Carelli V; Unit of Neurology, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, 40139 Bologna, Italy.; IRCCS Istituto delle Scienze Neurologiche di Bologna, 40139 Bologna, Italy.
Baruffini E; Department of Chemistry, Life Science and Environmental Sustainability, University of Parma, 43124 Parma, Italy.
Zanna C; Department of Pharmacy and Biotechnology (FABIT), University of Bologna, 40126 Bologna, Italy.
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Źródło :
Human molecular genetics [Hum Mol Genet] 2020 Nov 24. Date of Electronic Publication: 2020 Nov 24.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Pulmonary glycogen deficiency as a new potential cause of Respiratory Distress Syndrome.
Autorzy :
Testoni G; Institute for Research in Biomedicine (IRB Barcelona), Barcelona Institute of Science and Technology, Barcelona, Spain.
Olmeda B; Department of Biochemistry, Faculty of Biology, and Research Institute of Hospital 12 de Octubre, Complutense University, Madrid, Spain.
Duran J; Institute for Research in Biomedicine (IRB Barcelona), Barcelona Institute of Science and Technology, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), Madrid, Spain.
López-Rodríguez E; Institute of Functional Anatomy Wilhelm-Waldeyer-Haus, Charité - Universitätsmedizin Berlin, Berlin, Germany.
Aguilera M; Institute for Research in Biomedicine (IRB Barcelona), Barcelona Institute of Science and Technology, Barcelona, Spain.
Hernández-Álvarez MI; Institute for Research in Biomedicine (IRB Barcelona), Barcelona Institute of Science and Technology, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), Madrid, Spain.
Prats N; Institute for Research in Biomedicine (IRB Barcelona), Barcelona Institute of Science and Technology, Barcelona, Spain.
Pérez-Gil J; Department of Biochemistry, Faculty of Biology, and Research Institute of Hospital 12 de Octubre, Complutense University, Madrid, Spain.
Guinovart JJ; Institute for Research in Biomedicine (IRB Barcelona), Barcelona Institute of Science and Technology, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), Madrid, Spain.; Department of Biochemistry and Molecular Biomedicine, University of Barcelona, Barcelona, Spain.
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Źródło :
Human molecular genetics [Hum Mol Genet] 2020 Nov 20. Date of Electronic Publication: 2020 Nov 20.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Decreased turnover of the CNS myelin protein Opalin in a mouse model of hereditary spastic paraplegia 35.
Autorzy :
Hardt R; Institute of Biochemistry and Molecular Biology, Medical Faculty, University of Bonn, Germany.
Jordans S; Institute of Biochemistry and Molecular Biology, Medical Faculty, University of Bonn, Germany.
Winter D; Institute of Biochemistry and Molecular Biology, Medical Faculty, University of Bonn, Germany.
Gieselmann V; Institute of Biochemistry and Molecular Biology, Medical Faculty, University of Bonn, Germany.
Wang-Eckhardt L; Institute of Biochemistry and Molecular Biology, Medical Faculty, University of Bonn, Germany.
Eckhardt M; Institute of Biochemistry and Molecular Biology, Medical Faculty, University of Bonn, Germany.
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Źródło :
Human molecular genetics [Hum Mol Genet] 2020 Nov 20. Date of Electronic Publication: 2020 Nov 20.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Neuroligin dependence of social behaviour in C. elegans provides a model to investigate an autism associated gene.
Autorzy :
Rawsthorne H; School of Biological Sciences, Highfield Campus, University of Southampton, Southampton, SO17 1BJ, UK.
Calahorro F; School of Biological Sciences, Highfield Campus, University of Southampton, Southampton, SO17 1BJ, UK.
Feist E; School of Biological Sciences, Highfield Campus, University of Southampton, Southampton, SO17 1BJ, UK.
Holden-Dye L; School of Biological Sciences, Highfield Campus, University of Southampton, Southampton, SO17 1BJ, UK.
O'Connor V; School of Biological Sciences, Highfield Campus, University of Southampton, Southampton, SO17 1BJ, UK.
Dillon J; School of Biological Sciences, Highfield Campus, University of Southampton, Southampton, SO17 1BJ, UK.
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Źródło :
Human molecular genetics [Hum Mol Genet] 2020 Nov 18. Date of Electronic Publication: 2020 Nov 18.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
TrkA mediates effect of novel KIDINS220 mutation in human brain ventriculomegaly.
Autorzy :
Jacquemin V; IRIBHM, Université Libre de Bruxelles, 1070 Brussels, Belgium.
Antoine M; IRIBHM, Université Libre de Bruxelles, 1070 Brussels, Belgium.
Duerinckx S; IRIBHM, Université Libre de Bruxelles, 1070 Brussels, Belgium.; Neurology Department, Hôpital Erasme, Université Libre de Bruxelles, 1070 Brussels, Belgium.
Massart A; IRIBHM, Université Libre de Bruxelles, 1070 Brussels, Belgium.; Department of Nephrology, Hôpital Universitaire d'Anvers, 2650 Edegem, Belgium.
Desir J; Human Genetics Center, Institute of Pathology and Genetics, 6041 Gosselies, Belgium.
Perazzolo C; IRIBHM, Université Libre de Bruxelles, 1070 Brussels, Belgium.
Cassart M; Department of Gynecology and Obstetrics, Hôpitaux IRIS SUD, 1050 Brussels, Belgium.
Thomas D; Department of Gynecology and Obstetrics, Hôpitaux IRIS SUD, 1050 Brussels, Belgium.
Segers V; Department of Anatomopathology, CHU Brugmann, 1020 Brussels, Belgium.
Lecomte S; Department of Anatomopathology, CHU Brugmann, 1020 Brussels, Belgium.
Abramowicz M; IRIBHM, Université Libre de Bruxelles, 1070 Brussels, Belgium.; Department of Genetic Medicine and Development, Faculty of Medicine, University of Geneva, 1211 Geneva, Switzerland.
Pirson I; IRIBHM, Université Libre de Bruxelles, 1070 Brussels, Belgium.
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Źródło :
Human molecular genetics [Hum Mol Genet] 2020 Nov 18. Date of Electronic Publication: 2020 Nov 18.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Corrigendum to: Pharmacologically-induced mouse model of adult spinal muscular atrophy to evaluate effectiveness of therapeutics after disease onset.
Autorzy :
Feng Z; Section of Neurobiology, Department of Biological Sciences, University of Southern California, Los Angeles, CA 90089-2520, USA.
Ling KKY; Section of Neurobiology, Department of Biological Sciences, University of Southern California, Los Angeles, CA 90089-2520, USA.
Zhao X; PTC Therapeutics, Inc., South Plainfield, NJ 07080, USA.
Zhou C; Section of Neurobiology, Department of Biological Sciences, University of Southern California, Los Angeles, CA 90089-2520, USA.
Karp G; PTC Therapeutics, Inc., South Plainfield, NJ 07080, USA.
Welch EM; PTC Therapeutics, Inc., South Plainfield, NJ 07080, USA.
Naryshkin N; PTC Therapeutics, Inc., South Plainfield, NJ 07080, USA.
Ratni H; F. Hoffmann-La Roche Ltd, Pharmaceutical Research and Early Development, Roche Innovation Center Basel, Grenzacherstrasse 124, 4070 Basel, Switzerland.
Chen KS; SMA Foundation, 888 Seventh Avenue, Suite 400, New York, NY 10019, USA.
Metzger F; F. Hoffmann-La Roche Ltd, Pharmaceutical Research and Early Development, Roche Innovation Center Basel, Grenzacherstrasse 124, 4070 Basel, Switzerland.
Paushkin S; SMA Foundation, 888 Seventh Avenue, Suite 400, New York, NY 10019, USA.
Weetall M; PTC Therapeutics, Inc., South Plainfield, NJ 07080, USA.
Ko CP; Section of Neurobiology, Department of Biological Sciences, University of Southern California, Los Angeles, CA 90089-2520, USA.
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Źródło :
Human molecular genetics [Hum Mol Genet] 2020 Nov 17. Date of Electronic Publication: 2020 Nov 17.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Genomic characterization of the adolescent idiopathic scoliosis associated transcriptome and regulome.
Autorzy :
Makki N; Department of Anatomy and Cell Biology, University of Florida, College of Medicine, Gainesville, Florida, USA.
Zhao J; Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, California, USA.; Institute for Human Genetics, University of California San Francisco, San Francisco, California, USA.
Liu Z; Department of Pediatrics and Nutritional Sciences, Dell Pediatric Research Institute, University of Texas at Austin, Austin, Texas, USA.
Eckalbar WL; Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, California, USA.; Institute for Human Genetics, University of California San Francisco, San Francisco, California, USA.
Ushiki A; Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, California, USA.; Institute for Human Genetics, University of California San Francisco, San Francisco, California, USA.
Khanshour AM; Center for Pediatric Bone Biology and Translational Research, Texas Scottish Rite Hospital for Children, Dallas, Texas, USA.
Wu J; Health Science Center Libraries, University of Florida, Gainesville, Florida, USA.
Rios J; Center for Pediatric Bone Biology and Translational Research, Texas Scottish Rite Hospital for Children, Dallas, Texas, USA.; McDermott Center for Human Growth and Development and Departments of Orthopaedic Surgery and Pediatrics, University of Texas Southwestern Medical Center, Dallas, USA.
Gray RS; Department of Pediatrics and Nutritional Sciences, Dell Pediatric Research Institute, University of Texas at Austin, Austin, Texas, USA.
Wise CA; Center for Pediatric Bone Biology and Translational Research, Texas Scottish Rite Hospital for Children, Dallas, Texas, USA.; McDermott Center for Human Growth and Development and Departments of Orthopaedic Surgery and Pediatrics, University of Texas Southwestern Medical Center, Dallas, USA.
Ahituv N; Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, California, USA.; Institute for Human Genetics, University of California San Francisco, San Francisco, California, USA.
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Źródło :
Human molecular genetics [Hum Mol Genet] 2020 Nov 12. Date of Electronic Publication: 2020 Nov 12.
Typ publikacji :
Journal Article
Czasopismo naukowe

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