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Tytuł :
Maternal background alters the penetrance of growth phenotypes and sex-specific placental adaptation of offspring sired by alcohol-exposed males.
Autorzy :
Thomas KN; Department of Veterinary Physiology & Pharmacology, College of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, Texas, USA.
Zimmel KN; Department of Veterinary Physiology & Pharmacology, College of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, Texas, USA.
Roach AN; Department of Veterinary Physiology & Pharmacology, College of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, Texas, USA.
Basel A; Department of Veterinary Physiology & Pharmacology, College of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, Texas, USA.
Mehta NA; Department of Veterinary Physiology & Pharmacology, College of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, Texas, USA.
Bedi YS; Department of Veterinary Physiology & Pharmacology, College of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, Texas, USA.
Golding MC; Department of Veterinary Physiology & Pharmacology, College of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, Texas, USA.
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Źródło :
FASEB journal : official publication of the Federation of American Societies for Experimental Biology [FASEB J] 2021 Dec; Vol. 35 (12), pp. e22035.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Adaptation, Physiological*
Paternal Inheritance*
Penetrance*
Ethanol/*toxicity
Fetal Alcohol Spectrum Disorders/*pathology
Fetal Growth Retardation/*pathology
Placenta/*physiopathology
Animals ; Epigenesis, Genetic ; Female ; Fetal Alcohol Spectrum Disorders/etiology ; Fetal Growth Retardation/chemically induced ; Male ; Mice ; Mice, Inbred C57BL ; Phenotype ; Pregnancy ; Sex Factors ; Transcriptome
Czasopismo naukowe
Tytuł :
Clinical heterogeneity and reduced penetrance in DICER1 syndrome: a report of three families.
Autorzy :
Azzollini J; Unit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.
Ferrari A; Pediatric Oncology Unit, Department of Medical Oncology and Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.
Stracuzzi A; Pathology Unit, Department of Laboratories, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Chiaravalli S; Pediatric Oncology Unit, Department of Medical Oncology and Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.
Terenziani M; Pediatric Oncology Unit, Department of Medical Oncology and Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.
Spreafico F; Pediatric Oncology Unit, Department of Medical Oncology and Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.
Grasso M; Centre for Inherited Cardiovascular Diseases, IRCCS Fondazione Policlinico San Matteo, Pavia, Italy.
Collini P; Soft Tissue and Bone Pathology, Histopathology and Pediatric Pathology Unit, Diagnostic Pathology and Laboratory Medicine Department, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.
Pensotti V; Cancer Genetics Test Laboratory, Cogentech s.r.l. Società Benefit a Socio Unico, Milan, Italy.
Massimino M; Pediatric Oncology Unit, Department of Medical Oncology and Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.
Arbustini E; Centre for Inherited Cardiovascular Diseases, IRCCS Fondazione Policlinico San Matteo, Pavia, Italy.
Manoukian S; Unit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.
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Źródło :
Tumori [Tumori] 2021 Dec; Vol. 107 (6), pp. NP144-NP148. Date of Electronic Publication: 2021 Nov 11.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Biological Variation, Population*
Genetic Variation*
Penetrance*
DEAD-box RNA Helicases/*genetics
Neoplasms/*diagnosis
Neoplasms/*etiology
Ribonuclease III/*genetics
Adolescent ; Alleles ; Child ; Combined Modality Therapy ; Disease Management ; Family ; Female ; Genetic Association Studies ; Genetic Predisposition to Disease ; Genotype ; Germ-Line Mutation ; Humans ; Male ; Mutation ; Neoplasms/therapy ; Syndrome ; Treatment Outcome ; Young Adult
Czasopismo naukowe
Tytuł :
Penetrance of Severe Pulmonary Arterial Hypertension in Response to Vascular Endothelial Growth Factor Receptor 2 Blockade in a Genetically Prone Rat Model Is Reduced by Female Sex.
Autorzy :
Chaudhary KR; Department of Physiology and Biophysics Faculty of Medicine Dalhousie University Halifax NS Canada.
Deng Y; Sinclair Centre for Regenerative Medicine Ottawa Hospital Research Institute ON Canada.
Yang A; Sinclair Centre for Regenerative Medicine Ottawa Hospital Research Institute ON Canada.
Cober ND; Sinclair Centre for Regenerative Medicine Ottawa Hospital Research Institute ON Canada.; Department of Cellular and Molecular Medicine Faculty of Medicine University of Ottawa ON Canada.
Stewart DJ; Sinclair Centre for Regenerative Medicine Ottawa Hospital Research Institute ON Canada.; Department of Cellular and Molecular Medicine Faculty of Medicine University of Ottawa ON Canada.
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Źródło :
Journal of the American Heart Association [J Am Heart Assoc] 2021 Aug 03; Vol. 10 (15), pp. e019488. Date of Electronic Publication: 2021 Jul 28.
Typ publikacji :
Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Apoptosis*/drug effects
Indoles*
Penetrance*
Pyrroles*
Endothelial Cells/*metabolism
Gonadal Steroid Hormones/*metabolism
Pulmonary Arterial Hypertension/*chemically induced
Vascular Endothelial Growth Factor Receptor-2/*antagonists & inhibitors
Animals ; Disease Models, Animal ; Endothelial Cells/drug effects ; Endothelial Cells/pathology ; Estradiol/pharmacology ; Estrogen Replacement Therapy ; Female ; Genetic Predisposition to Disease ; Male ; Ovariectomy ; Phenotype ; Progesterone/pharmacology ; Pulmonary Arterial Hypertension/genetics ; Pulmonary Arterial Hypertension/metabolism ; Pulmonary Arterial Hypertension/prevention & control ; Rats, Sprague-Dawley ; Severity of Illness Index ; Sex Factors
Czasopismo naukowe
Tytuł :
A novel homoplasmic mt-tRNA m.14701C>T variant presenting with a partially reversible infantile respiratory chain deficiency.
Autorzy :
Lundquist AA; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.
Farholt S; Centre for Rare Diseases, Pediatric and Adolescent Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark; Centre for Rare Diseases, Pediatric and Adolescent Medicine, Aarhus University Hospital, Aarhus, Denmark.
Børresen ML; Centre for Rare Diseases, Pediatric and Adolescent Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.
Dunø M; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.
Wibrand F; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.
Witting N; Copenhagen Neuromuscular Center, Department of Neurology, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.
Østergaard E; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark. Electronic address: .
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Źródło :
European journal of medical genetics [Eur J Med Genet] 2021 Oct; Vol. 64 (10), pp. 104306. Date of Electronic Publication: 2021 Aug 13.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Heteroplasmy*
Penetrance*
Mitochondrial Diseases/*genetics
RNA, Transfer, Glu/*genetics
Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Middle Aged ; Mitochondrial Diseases/pathology ; Mutation ; Pedigree
Czasopismo naukowe
Tytuł :
Gene-teratogen interactions influence the penetrance of birth defects by altering Hedgehog signaling strength.
Autorzy :
Kong JH; Departments of Biochemistry and Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA.
Young CB; Department of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15201, USA.
Pusapati GV; Departments of Biochemistry and Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA.
Espinoza FH; Departments of Biochemistry and Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA.
Patel CB; Departments of Biochemistry and Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA.
Beckert F; Departments of Biochemistry and Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA.
Ho S; Department of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15201, USA.
Patel BB; Departments of Biochemistry and Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA.
Gabriel GC; Department of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15201, USA.
Aravind L; National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD 20894, USA.
Bazan JF; H Bioconsulting, Stillwater, MN 50082, USA.
Gunn TM; McLaughlin Research Institute, Great Falls, MT 59405, USA.
Lo CW; Department of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15201, USA.
Rohatgi R; Departments of Biochemistry and Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA.
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Źródło :
Development (Cambridge, England) [Development] 2021 Oct 01; Vol. 148 (19). Date of Electronic Publication: 2021 Oct 04.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms :
Gene-Environment Interaction*
Penetrance*
Abnormalities, Drug-Induced/*genetics
Hedgehog Proteins/*metabolism
Animals ; Cells, Cultured ; HEK293 Cells ; Humans ; Mice ; Mice, Inbred C57BL ; NIH 3T3 Cells ; Signal Transduction ; Smoothened Receptor/genetics ; Smoothened Receptor/metabolism
Czasopismo naukowe
Tytuł :
Founder mutation in myosin-binding protein C with an early onset and a high penetrance in males.
Autorzy :
Méndez I; Cardiology, Hospital General Universitario Gregorio Marañón, Madrid, Spain .; CIBERCV, Madrid, Spain.; Instituto de Investigación Sanitaria Gregorio Marañón, Madrid, Spain.; Facultad de Medicina, Universidad Complutense, Madrid, Spain.
Fernández AI; CIBERCV, Madrid, Spain.; Instituto de Investigación Sanitaria Gregorio Marañón, Madrid, Spain.; Facultad de Medicina, Universidad Complutense, Madrid, Spain.
Espinosa MÁ; Cardiology, Hospital General Universitario Gregorio Marañón, Madrid, Spain.; CIBERCV, Madrid, Spain.; Instituto de Investigación Sanitaria Gregorio Marañón, Madrid, Spain.; Facultad de Medicina, Universidad Complutense, Madrid, Spain.
Cuenca S; Cardiology, Hospital General Universitario Gregorio Marañón, Madrid, Spain.; CIBERCV, Madrid, Spain.; Instituto de Investigación Sanitaria Gregorio Marañón, Madrid, Spain.; Facultad de Medicina, Universidad Complutense, Madrid, Spain.
Lorca R; Cardiology, Hospital General Universitario Gregorio Marañón, Madrid, Spain.; CIBERCV, Madrid, Spain.; Instituto de Investigación Sanitaria Gregorio Marañón, Madrid, Spain.; Facultad de Medicina, Universidad Complutense, Madrid, Spain.
Rodríguez JF; Cardiology, Hospital General Universitario Gregorio Marañón, Madrid, Spain.; CIBERCV, Madrid, Spain.; Instituto de Investigación Sanitaria Gregorio Marañón, Madrid, Spain.; Facultad de Medicina, Universidad Complutense, Madrid, Spain.
Tamargo M; Cardiology, Hospital General Universitario Gregorio Marañón, Madrid, Spain.; CIBERCV, Madrid, Spain.; Instituto de Investigación Sanitaria Gregorio Marañón, Madrid, Spain.; Facultad de Medicina, Universidad Complutense, Madrid, Spain.
García-Montero M; Cardiology, Hospital General Universitario Gregorio Marañón, Madrid, Spain.; CIBERCV, Madrid, Spain.; Instituto de Investigación Sanitaria Gregorio Marañón, Madrid, Spain.; Facultad de Medicina, Universidad Complutense, Madrid, Spain.
Gómez C; Cardiology, Hospital General Universitario Gregorio Marañón, Madrid, Spain.; CIBERCV, Madrid, Spain.; Instituto de Investigación Sanitaria Gregorio Marañón, Madrid, Spain.; Facultad de Medicina, Universidad Complutense, Madrid, Spain.
Vilches S; Cardiology, Hospital General Universitario Gregorio Marañón, Madrid, Spain.; CIBERCV, Madrid, Spain.; Instituto de Investigación Sanitaria Gregorio Marañón, Madrid, Spain.; Facultad de Medicina, Universidad Complutense, Madrid, Spain.
Vázquez N; Cardiology, Hospital General Universitario Gregorio Marañón, Madrid, Spain.
Álvarez R; Instituto de Investigación Sanitaria Gregorio Marañón, Madrid, Spain.; Facultad de Medicina, Universidad Complutense, Madrid, Spain.; Pediatric Cardiology, Hospital Materno Infantil Gregorio Marañón, Madrid, Spain.
Medrano C; Instituto de Investigación Sanitaria Gregorio Marañón, Madrid, Spain.; Facultad de Medicina, Universidad Complutense, Madrid, Spain.; Pediatric Cardiology, Hospital Materno Infantil Gregorio Marañón, Madrid, Spain.
Yotti R; Instituto de Salud Carlos III, Madrid, Spain.
Fernández-Avilés F; Cardiology, Hospital General Universitario Gregorio Marañón, Madrid, Spain.; CIBERCV, Madrid, Spain.; Instituto de Investigación Sanitaria Gregorio Marañón, Madrid, Spain.; Facultad de Medicina, Universidad Complutense, Madrid, Spain.
Bermejo J; Cardiology, Hospital General Universitario Gregorio Marañón, Madrid, Spain.; CIBERCV, Madrid, Spain.; Instituto de Investigación Sanitaria Gregorio Marañón, Madrid, Spain.; Facultad de Medicina, Universidad Complutense, Madrid, Spain.
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Źródło :
Open heart [Open Heart] 2021 Sep; Vol. 8 (2).
Typ publikacji :
Comparative Study; Journal Article
MeSH Terms :
Mutation*
Penetrance*
Cardiomyopathy, Hypertrophic/*genetics
Carrier Proteins/*genetics
DNA/*genetics
Adult ; Age of Onset ; Cardiomyopathy, Hypertrophic/epidemiology ; Cardiomyopathy, Hypertrophic/metabolism ; Carrier Proteins/metabolism ; DNA Mutational Analysis ; Female ; Genetic Testing ; Humans ; Incidence ; Male ; Middle Aged ; Myosins ; Pedigree ; Retrospective Studies ; Sex Distribution ; Sex Factors ; Spain/epidemiology
Czasopismo naukowe
Tytuł :
A family with partially penetrant multicentric carpotarsal osteolysis due to gonadal mosaicism: First reported case.
Autorzy :
Närhi A; Department of Clinical Genetics, Helsinki University Hospital, Helenski, Finland.
Fernandes A; Department of Endocrinology and Diabetes, Royal Brisbane and Women's Hospital, Herston, Australia.; Faculty of Medicine, University of Queensland, Translational Research Institute, Woolloongabba, Australia.; Faculty of Medicine, Herston, University of Queensland, Herston, Australia.
Toiviainen-Salo S; Department of Radiology, New Children's Hospital, Helsinki University Hospital, Helenski, Finland.
Harris J; University of Queensland Diamantina Institute, University of Queensland, Translational Research Institute, Princess Alexandra Hospital, Woolloongabba, Australia.
McInerney-Leo A; Dermatology Research Centre, University of Queensland Diamantina Institute, University of Queensland, Woolloongabba, Australia.
Lazarus S; Department of Endocrinology and Diabetes, Royal Brisbane and Women's Hospital, Herston, Australia.; Faculty of Medicine, Herston, University of Queensland, Herston, Australia.; Department of Internal Medicine (Endocrinology), The Prince Charles Hospital, Chermside, Australia.
Avela K; Department of Clinical Genetics, Helsinki University Hospital, Helenski, Finland.
Duncan EL; Department of Twin Research and Genetic Epidemiology, School of Life Course Sciences, Faculty of Life Sciences and Medicine, King's College London, London, UK.
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Źródło :
American journal of medical genetics. Part A [Am J Med Genet A] 2021 Aug; Vol. 185 (8), pp. 2477-2481. Date of Electronic Publication: 2021 May 14.
Typ publikacji :
Case Reports; Research Support, Non-U.S. Gov't
MeSH Terms :
Family*
Mosaicism*
Penetrance*
Carpal Bones/*abnormalities
Carpal Bones/*pathology
Hajdu-Cheney Syndrome/*diagnosis
Hajdu-Cheney Syndrome/*genetics
Alleles ; Biomarkers ; DNA Mutational Analysis ; Genetic Association Studies ; Genetic Predisposition to Disease ; Genotype ; Hajdu-Cheney Syndrome/surgery ; Humans ; MafB Transcription Factor/genetics ; Male ; Mutation ; Pedigree ; Phenotype ; Radiography ; Sequence Analysis, DNA ; Young Adult
Raport
Tytuł :
High penetrance of myeloid neoplasia with diverse clinical and cytogenetic features in three siblings with a familial GATA2 deficiency.
Autorzy :
Ellingford JM; Manchester Centre for Genomic Medicine, North West Genomic Laboratory Hub, Manchester NHS Foundation Trust, Manchester, UK; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, UK; Manchester Academic Health Science Centre.
Telford N; Manchester Academic Health Science Centre; Oncology Cytogenetics, The Christie NHS Foundation Trust, Manchester, UK.
Urquhart J; Manchester Centre for Genomic Medicine, North West Genomic Laboratory Hub, Manchester NHS Foundation Trust, Manchester, UK; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, UK; Manchester Academic Health Science Centre.
Will AM; Manchester Academic Health Science Centre; Department of Paediatric Haematology and Oncology, Royal Manchester Children's Hospital, Manchester NHS Foundation Trust Manchester, UK.
Bonney D; Manchester Academic Health Science Centre; Department of Paediatric Haematology and Oncology, Royal Manchester Children's Hospital, Manchester NHS Foundation Trust Manchester, UK.
Adams B; Manchester Centre for Genomic Medicine, North West Genomic Laboratory Hub, Manchester NHS Foundation Trust, Manchester, UK; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, UK; Manchester Academic Health Science Centre.
Dixon R; Manchester Academic Health Science Centre; Department of Paediatric Radiology, Royal Manchester Children's Hospital, Manchester, UK.
Kerr B; Manchester Centre for Genomic Medicine, North West Genomic Laboratory Hub, Manchester NHS Foundation Trust, Manchester, UK; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, UK; Manchester Academic Health Science Centre.
Black GC; Manchester Centre for Genomic Medicine, North West Genomic Laboratory Hub, Manchester NHS Foundation Trust, Manchester, UK; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, UK; Manchester Academic Health Science Centre.
Wynn RF; Manchester Academic Health Science Centre; Department of Paediatric Haematology and Oncology, Royal Manchester Children's Hospital, Manchester NHS Foundation Trust Manchester, UK.
Meyer S; Manchester Academic Health Science Centre; Department of Paediatric Haematology and Oncology, Royal Manchester Children's Hospital, Manchester NHS Foundation Trust Manchester, UK; Stem Cell and Leukaemia Proteomics Laboratory, Faculty of Medical and Human Sciences, Division of Cancer Studies, University of Manchester, UK; Department of Paediatric and Adolescent Oncology, The Christie NHS Foundation Trust, Manchester, UK. Electronic address: .
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Źródło :
Cancer genetics [Cancer Genet] 2021 Aug; Vol. 256-257, pp. 77-80. Date of Electronic Publication: 2021 Apr 23.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Cytogenetic Analysis*
Penetrance*
Siblings*
GATA2 Transcription Factor/*deficiency
GATA2 Transcription Factor/*genetics
Leukemia, Myeloid/*genetics
Adolescent ; Adult ; Base Sequence ; Child ; Fatal Outcome ; Female ; Humans ; Leukemia, Myeloid/diagnostic imaging ; Male ; Pedigree
Czasopismo naukowe
Tytuł :
Linking Penetrance and Transcription in DYT-THAP1: Insights From a Human iPSC-Derived Cortical Model.
Autorzy :
Baumann H; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Ott F; Institute of Experimental Dermatology and Institute of Cardiogenetics, University of Lübeck, Lübeck, Germany.
Weber J; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Trilck-Winkler M; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Münchau A; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.; Institute of Systems Motor Science, University of Lübeck, Lübeck, Germany.
Zittel S; Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Kostić VS; Department of Neurology, University of Belgrade, Belgrade, Serbia.
Kaiser FJ; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.; Institute of Human Genetics, University of Lübeck, Lübeck, Germany.
Klein C; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Busch H; Institute of Experimental Dermatology and Institute of Cardiogenetics, University of Lübeck, Lübeck, Germany.
Seibler P; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Lohmann K; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
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Źródło :
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2021 Jun; Vol. 36 (6), pp. 1381-1391. Date of Electronic Publication: 2021 Feb 06.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Apoptosis Regulatory Proteins*/genetics
DNA-Binding Proteins*/genetics
Induced Pluripotent Stem Cells*
Penetrance*
Humans ; Mutation/genetics
Czasopismo naukowe
Tytuł :
MYH7-related disorders in two Bulgarian families: Novel variants in the same region associated with different clinical manifestation and disease penetrance.
Autorzy :
Atemin S; Department of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia, Bulgaria; Genetic Medico-Diagnostic Laboratory 'Genica', Sofia, Bulgaria. Electronic address: .
Todorov T; Genetic Medico-Diagnostic Laboratory 'Genica', Sofia, Bulgaria.
Maver A; Clinical Institute of Medical Genetics, UMC Ljubljana, Šlajmerjeva 4, SI-1000 Ljubljana, Slovenia.
Chamova T; Department of Neurology, University hospital 'Alexandrovska', Medical University Sofia, Sofia, Bulgaria.
Georgieva B; Department of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia, Bulgaria.
Tincheva S; Genetic Medico-Diagnostic Laboratory 'Genica', Sofia, Bulgaria.
Pacheva I; Department of Pediatrics and Medical Genetics, Medical University - Plovdiv, Bulgaria; Department of Pediatrics, University Hospital 'St. George', Plovdiv, Bulgaria.
Ivanov I; Department of Pediatrics and Medical Genetics, Medical University - Plovdiv, Bulgaria; Department of Pediatrics, University Hospital 'St. George', Plovdiv, Bulgaria.
Taneva A; Department of Neurology, University hospital 'Alexandrovska', Medical University Sofia, Sofia, Bulgaria.
Zlatareva D; Department of Diagnostic Imaging, University Hospital 'Alexandrovska', Medical University, Sofia, Bulgaria.
Tournev I; Department of Neurology, University hospital 'Alexandrovska', Medical University Sofia, Sofia, Bulgaria; Department of Cognitive Science and Psychology, New Bulgarian University, Sofia, Bulgaria.
Guergueltcheva V; Clinic of Neurology, University Hospital Sofiamed, Sofia, Bulgaria.
Gospodinova M; University Hospital 'St. Ivan Rilski', Sofia, Bulgaria.
Chochkova L; Department of Pediatrics and Medical Genetics, Medical University - Plovdiv, Bulgaria; Department of Pediatrics, University Hospital 'St. George', Plovdiv, Bulgaria.
Peterlin B; Clinical Institute of Medical Genetics, UMC Ljubljana, Šlajmerjeva 4, SI-1000 Ljubljana, Slovenia.
Mitev V; Department of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia, Bulgaria.
Todorova A; Department of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia, Bulgaria; Genetic Medico-Diagnostic Laboratory 'Genica', Sofia, Bulgaria.
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Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2021 Jul; Vol. 31 (7), pp. 633-641. Date of Electronic Publication: 2021 Apr 26.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Penetrance*
Cardiac Myosins/*genetics
Distal Myopathies/*genetics
Muscular Dystrophies, Limb-Girdle/*genetics
Myosin Heavy Chains/*genetics
Adult ; Bulgaria ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Middle Aged ; Muscle, Skeletal/pathology ; Muscular Diseases/congenital ; Muscular Diseases/genetics ; Mutation ; Pedigree ; Phenotype
SCR Disease Name :
Myopathy, Myosin Storage
Czasopismo naukowe
Tytuł :
An Mb1-Cre-driven oncogenic Kras mutation results in a mouse model of T-acute lymphoblastic leukemia/lymphoma with short latency and high penetrance.
Autorzy :
Junco JJ; Texas Children's Cancer Center, Department of Pediatrics, Baylor College of Medicine (BCM), Houston, TX, USA. .
Chen T; Department of Pathology & Immunology, BCM, Houston, TX, USA.
Rashid R; Texas Children's Cancer Center, Department of Pediatrics, Baylor College of Medicine (BCM), Houston, TX, USA.
Terrell M; Texas Children's Cancer Center, Department of Pediatrics, Baylor College of Medicine (BCM), Houston, TX, USA.
Gant VU Jr; Texas Children's Cancer Center, Department of Pediatrics, Baylor College of Medicine (BCM), Houston, TX, USA.
Miller M; Texas Children's Cancer Center, Department of Pediatrics, Baylor College of Medicine (BCM), Houston, TX, USA.; Stem Cells and Regenerative Medicine Center, Departments of Pediatrics and of Molecular & Human Genetics, BCM, Houston, TX, USA.
Rau R; Texas Children's Cancer Center, Department of Pediatrics, Baylor College of Medicine (BCM), Houston, TX, USA.; Stem Cells and Regenerative Medicine Center, Departments of Pediatrics and of Molecular & Human Genetics, BCM, Houston, TX, USA.
Lacorazza HD; Department of Pathology & Immunology, BCM, Houston, TX, USA.
Rabin KR; Texas Children's Cancer Center, Department of Pediatrics, Baylor College of Medicine (BCM), Houston, TX, USA.
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Źródło :
Leukemia [Leukemia] 2021 Jun; Vol. 35 (6), pp. 1777-1781. Date of Electronic Publication: 2020 Sep 11.
Typ publikacji :
Letter; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms :
Mutation*
Penetrance*
Integrases/*metabolism
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma/*pathology
Proto-Oncogene Proteins p21(ras)/*genetics
Transcription Factors/*metabolism
Animals ; Female ; Integrases/genetics ; Male ; Mice ; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma/genetics ; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma/metabolism ; Transcription Factors/genetics
Raport
Tytuł :
Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism.
Autorzy :
Laabs BH; Institute of Medical Biometry and Statistics, University of Lübeck, University Hospital Schleswig-Holstein, Lübeck, Germany.
Klein C; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany. .
Pozojevic J; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.; Section for Functional Genetics, Institute for Human Genetics, University of Lübeck, Lübeck, Germany.
Domingo A; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.; The Collaborative Center for X-linked Dystonia Parkinsonism, Department of Neurology, Massachusetts General Hospital, Charlestown, MA, USA.
Brüggemann N; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.; Department of Neurology, University of Lübeck, Lübeck, Germany.
Grütz K; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Rosales RL; Department of Neurology, University of Santo Tomas Hospital, Manila, Philippines.; Department of Psychiatry, University of Santo Tomas Hospital, Manila, Philippines.
Jamora RD; Department of Neurosciences, College of Medicine - Philippine General Hospital, University of the Philippines, Manila, Philippines.
Saranza G; Department of Neurosciences, College of Medicine - Philippine General Hospital, University of the Philippines, Manila, Philippines.
Diesta CCE; Department of Neurosciences, Movement Disorders Clinic, Makati Medical Center, Makati City, Philippines.
Wittig M; Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Kiel, Germany.; University Hospital Schleswig-Holstein (UKSH), Kiel, Germany.
Schaake S; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Dulovic-Mahlow M; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Quismundo J; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Otto P; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Acuna P; The Collaborative Center for X-linked Dystonia Parkinsonism, Department of Neurology, Massachusetts General Hospital, Charlestown, MA, USA.
Go C; Department of Neurology, Jose Reyes Memorial Medical Center, Quezon City, Philippines.
Sharma N; The Collaborative Center for X-linked Dystonia Parkinsonism, Department of Neurology, Massachusetts General Hospital, Charlestown, MA, USA.
Multhaupt-Buell T; The Collaborative Center for X-linked Dystonia Parkinsonism, Department of Neurology, Massachusetts General Hospital, Charlestown, MA, USA.
Müller U; Institut für Humangenetik, Justus-Liebig-Universität, Giessen, Germany.
Hanssen H; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.; Department of Neurology, University of Lübeck, Lübeck, Germany.
Kilpert F; Institute of Human Genetics, University Hospital Essen and University of Duisburg-Essen, Duisburg-Essen, Germany.
Franke A; Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Kiel, Germany.; University Hospital Schleswig-Holstein (UKSH), Kiel, Germany.
Rolfs A; CENTOGENE GmbH, Rostock, Germany.; Medical Faculty, University of Rostock, Rostock, Germany.
Bauer P; CENTOGENE GmbH, Rostock, Germany.
Dobričić V; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.; Lübeck Interdisciplinary Platform for Genome Analytics, University of Lübeck, Lübeck, Germany.
Lohmann K; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Ozelius LJ; The Collaborative Center for X-linked Dystonia Parkinsonism, Department of Neurology, Massachusetts General Hospital, Charlestown, MA, USA.
Kaiser FJ; Section for Functional Genetics, Institute for Human Genetics, University of Lübeck, Lübeck, Germany.; Institute of Human Genetics, University Hospital Essen and University of Duisburg-Essen, Duisburg-Essen, Germany.; EZSE - Essener Zentrum für Seltene Erkrankungen, Universitätstsmedizin Essen, Essen, Germany.
König IR; Institute of Medical Biometry and Statistics, University of Lübeck, University Hospital Schleswig-Holstein, Lübeck, Germany. .
Westenberger A; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany. .
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Źródło :
Nature communications [Nat Commun] 2021 May 28; Vol. 12 (1), pp. 3216. Date of Electronic Publication: 2021 May 28.
Typ publikacji :
Journal Article; Observational Study; Research Support, Non-U.S. Gov't
MeSH Terms :
Genes, Modifier*
Genetic Loci*
Penetrance*
Dystonic Disorders/*genetics
Genetic Diseases, X-Linked/*genetics
Adult ; Age of Onset ; Aged ; Alleles ; Case-Control Studies ; DNA Mismatch Repair ; Genome-Wide Association Study ; Humans ; Male ; Middle Aged ; Polymorphism, Single Nucleotide ; Protective Factors ; Young Adult
SCR Disease Name :
Dystonia 3, Torsion, X-Linked
Czasopismo naukowe
Tytuł :
RET compound inheritance in Chinese patients with Hirschsprung disease: lack of penetrance from insufficient gene dysfunction.
Autorzy :
Jiang Q; Department of Medical Genetics, Beijing Municipal Key Laboratory of Child Development and Nutriomics, Capital Institute of Pediatrics, Beijing, 100020, China.
Wang Y; Department of Pediatric Surgery, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai Key Laboratory of Pediatric Gastroenterology and Nutrition, Shanghai Institute for Pediatric Research, Shanghai, 200092, China.
Gao Y; Key Laboratory of Computational Biology, CAS-MPG Partner Institute for Computational Biology, Shanghai Institute of Nutrition and Health, Shanghai Institutes for Biological Sciences, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai, 200031, China.; School of Life Science and Technology, ShanghaiTech University, Shanghai, 201210, China.
Wang H; Department of Medical Genetics, Beijing Municipal Key Laboratory of Child Development and Nutriomics, Capital Institute of Pediatrics, Beijing, 100020, China.
Zhang Z; Department of General Surgery, Capital Institute of Pediatrics Affiliated Children's Hospital, No. 2 Yabao Rd., Chaoyang District, Beijing, 100020, China.
Li Q; Department of General Surgery, Capital Institute of Pediatrics Affiliated Children's Hospital, No. 2 Yabao Rd., Chaoyang District, Beijing, 100020, China.
Xu S; Key Laboratory of Computational Biology, CAS-MPG Partner Institute for Computational Biology, Shanghai Institute of Nutrition and Health, Shanghai Institutes for Biological Sciences, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai, 200031, China.; Center for Excellence in Animal Evolution and Genetics, Chinese Academy of Sciences, Kunming, 650223, China.; School of Life Science and Technology, ShanghaiTech University, Shanghai, 201210, China.
Cai W; Department of Pediatric Surgery, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai Key Laboratory of Pediatric Gastroenterology and Nutrition, Shanghai Institute for Pediatric Research, Shanghai, 200092, China. .
Li L; Department of General Surgery, Capital Institute of Pediatrics Affiliated Children's Hospital, No. 2 Yabao Rd., Chaoyang District, Beijing, 100020, China. .
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Źródło :
Human genetics [Hum Genet] 2021 May; Vol. 140 (5), pp. 813-825. Date of Electronic Publication: 2021 Jan 12.
Typ publikacji :
Journal Article
MeSH Terms :
Penetrance*
Hirschsprung Disease/*genetics
Intestines/*innervation
Protein Isoforms/*genetics
Proto-Oncogene Proteins c-ret/*genetics
China ; Female ; Genetic Predisposition to Disease/genetics ; Humans ; Infant ; Infant, Newborn ; Linkage Disequilibrium/genetics ; Male ; Polymorphism, Single Nucleotide/genetics ; Sequence Analysis, DNA
Czasopismo naukowe
Tytuł :
The Common Germline TP53-R337H Mutation Is Hypomorphic and Confers Incomplete Penetrance and Late Tumor Onset in a Mouse Model.
Autorzy :
Jeffers JR; Department of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee.
Pinto EM; Department of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee.
Rehg JE; Department of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee.
Clay MR; Department of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee.
Wang J; Department of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee.
Neale G; The Hartwell Center, St. Jude Children's Research Hospital, Memphis, Tennessee.
Heath RJ; Protein Production Center, St. Jude Children's Research Hospital, Memphis, Tennessee.
Lozano G; The University of Texas, MD Anderson Cancer Center, Houston, Texas.
Lalli E; Université Côte d'Azur, Sophia Antipolis, Valbonne, France.; NEOGENEX-CANCER CNRS International Associated Laboratory, Valbonne, France.
Figueiredo BC; NEOGENEX-CANCER CNRS International Associated Laboratory, Valbonne, France.; Instituto de Pesquisa Pelé Pequeno Príncipe and Faculdades Pequeno Príncipe, Curitiba, Brazil.
Pappo AS; Department of Oncology, St. Jude Children's Research Hospital, Memphis, Tennessee.
Rodriguez-Galindo C; Department of Global Pediatric Medicine, St. Jude Children's Research Hospital, Memphis, Tennessee.
Chen W; Center for Applied Bioinformatics, St. Jude Children's Research Hospital, Memphis, Tennessee.
Pounds S; Department of Biostatistics, St. Jude Children's Research Hospital, Memphis, Tennessee.
Ribeiro RC; Department of Oncology, St. Jude Children's Research Hospital, Memphis, Tennessee.
Zambetti GP; Department of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee. .
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Źródło :
Cancer research [Cancer Res] 2021 May 01; Vol. 81 (9), pp. 2442-2456. Date of Electronic Publication: 2021 Feb 26.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Disease Models, Animal*
Germ-Line Mutation*
Mutation, Missense*
Penetrance*
Germ Cells/*metabolism
Li-Fraumeni Syndrome/*genetics
Mice/*genetics
Tumor Suppressor Protein p53/*genetics
Animals ; Brazil/epidemiology ; Cells, Cultured ; Female ; Fibroblasts/metabolism ; Gene Knock-In Techniques ; Genetic Predisposition to Disease ; Li-Fraumeni Syndrome/epidemiology ; Male ; Mice, Inbred C57BL ; Mice, Transgenic
Czasopismo naukowe
Tytuł :
Non-Penetrance for Ocular Phenotype in Two Individuals Carrying Heterozygous Loss-of-Function ZEB1 Alleles.
Autorzy :
Dudakova L; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, 128 08 Prague, Czech Republic.
Stranecky V; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, 128 08 Prague, Czech Republic.
Piherova L; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, 128 08 Prague, Czech Republic.
Palecek T; Second Department of Medicine-Department of Cardiovascular Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, U Nemocnice 2, 128 08 Prague, Czech Republic.
Pontikos N; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK.
Kmoch S; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, 128 08 Prague, Czech Republic.
Skalicka P; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, 128 08 Prague, Czech Republic.; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, U Nemocnice 2, 128 08 Prague, Czech Republic.
Vaneckova M; Department of Radiology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Katerinska 30, 128 08 Prague, Czech Republic.
Davidson AE; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK.
Liskova P; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, 128 08 Prague, Czech Republic.; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK.; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, U Nemocnice 2, 128 08 Prague, Czech Republic.
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Źródło :
Genes [Genes (Basel)] 2021 Apr 30; Vol. 12 (5). Date of Electronic Publication: 2021 Apr 30.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Loss of Function Mutation*
Penetrance*
Corneal Dystrophies, Hereditary/*genetics
Zinc Finger E-box-Binding Homeobox 1/*genetics
Cells, Cultured ; Corneal Dystrophies, Hereditary/pathology ; Haploinsufficiency ; Heterozygote ; Humans ; Male ; Middle Aged ; Pedigree ; Zinc Finger E-box-Binding Homeobox 1/metabolism
Czasopismo naukowe
Tytuł :
NR5A1 c.991-1G > C splice-site variant causes familial 46,XY partial gonadal dysgenesis with incomplete penetrance.
Autorzy :
Laan M; Institute of Biomedicine and Translational Medicine, University of Tartu, Tartu, Estonia.
Kasak L; Institute of Biomedicine and Translational Medicine, University of Tartu, Tartu, Estonia.
Timinskas K; Institute of Biotechnology, Life Sciences Center, Vilnius University, Vilnius, Lithuania.
Grigorova M; Institute of Biomedicine and Translational Medicine, University of Tartu, Tartu, Estonia.
Venclovas Č; Institute of Biotechnology, Life Sciences Center, Vilnius University, Vilnius, Lithuania.
Renaux A; Interuniversity Institute of Bioinformatics in Brussels, Université libre de Bruxelles, Vrije Universiteit Brussel, Brussels, Belgium.; Machine Learning Group, Université libre de Bruxelles, Brussels, Belgium.; Artificial Intelligence lab, Vrije Universiteit Brussel, Brussels, Belgium.
Lenaerts T; Interuniversity Institute of Bioinformatics in Brussels, Université libre de Bruxelles, Vrije Universiteit Brussel, Brussels, Belgium.; Machine Learning Group, Université libre de Bruxelles, Brussels, Belgium.; Artificial Intelligence lab, Vrije Universiteit Brussel, Brussels, Belgium.
Punab M; Andrology Center, Tartu University Hospital, Tartu, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
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Źródło :
Clinical endocrinology [Clin Endocrinol (Oxf)] 2021 Apr; Vol. 94 (4), pp. 656-666. Date of Electronic Publication: 2020 Dec 09.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Gonadal Dysgenesis, 46,XY*/genetics
Penetrance*
Steroidogenic Factor 1*/genetics
Biological Variation, Population ; Humans ; Male ; Mutation ; Testis
Czasopismo naukowe
Tytuł :
An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder.
Autorzy :
Cameli C; Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy.
Viggiano M; Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy.
Rochat MJ; UOSI Disturbi dello Spettro Autistico, Ospedale Bellaria di Bologna, IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, 40139, Italy.
Maresca A; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, Italia.
Caporali L; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, Italia.
Fiorini C; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, Italia.; Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.
Palombo F; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, Italia.
Magini P; Unit of Medical Genetics, Department of Medical and Surgical Sciences, Policlinico St. Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy.
Duardo RC; Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy.
Ceroni F; Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, UK.
Scaduto MC; UOSI Disturbi dello Spettro Autistico, Ospedale Bellaria di Bologna, IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, 40139, Italy.
Posar A; UOSI Disturbi dello Spettro Autistico, Ospedale Bellaria di Bologna, IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, 40139, Italy.; Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.
Seri M; Unit of Medical Genetics, Department of Medical and Surgical Sciences, Policlinico St. Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy.
Carelli V; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, Italia.; Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.
Visconti P; UOSI Disturbi dello Spettro Autistico, Ospedale Bellaria di Bologna, IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, 40139, Italy.
Bacchelli E; Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy.
Maestrini E; Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy.
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Źródło :
Journal of cellular and molecular medicine [J Cell Mol Med] 2021 Mar; Vol. 25 (5), pp. 2459-2470. Date of Electronic Publication: 2021 Jan 21.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Predisposition to Disease*
Heterozygote*
Penetrance*
Sequence Deletion*
Autism Spectrum Disorder/*etiology
Calcium-Binding Proteins/*genetics
Neural Cell Adhesion Molecules/*genetics
Adult ; Autism Spectrum Disorder/diagnosis ; Autism Spectrum Disorder/psychology ; Comparative Genomic Hybridization ; Computational Biology/methods ; DNA Copy Number Variations ; Exons ; Female ; Gene Expression Profiling ; Gene Regulatory Networks ; Genetic Association Studies ; Genetic Variation ; Genome, Mitochondrial ; Genomics/methods ; Humans ; Infant ; Male ; Phenotype ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
Loss-of-Function Variants in the Tumor-Suppressor Gene PTPN14 Confer Increased Cancer Risk.
Autorzy :
Olafsdottir T; deCODE Genetics/Amgen, Reykjavik, Iceland. .
Stacey SN; deCODE Genetics/Amgen, Reykjavik, Iceland.
Sveinbjornsson G; deCODE Genetics/Amgen, Reykjavik, Iceland.
Thorleifsson G; deCODE Genetics/Amgen, Reykjavik, Iceland.
Norland K; deCODE Genetics/Amgen, Reykjavik, Iceland.
Sigurgeirsson B; Landspitali University Hospital, Reykjavik, Iceland.; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland.
Thorisdottir K; Landspitali University Hospital, Reykjavik, Iceland.; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland.
Kristjansson AK; Landspitali University Hospital, Reykjavik, Iceland.; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland.
Tryggvadottir L; The Icelandic Cancer Registry, Reykjavik, Iceland.
Sarin KY; Department of Dermatology, Stanford University School of Medicine, Redwood City, California.
Benediktsson R; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland.; Department of Endocrinology and Metabolic Medicine, Landspitali University Hospital, Reykjavík, Iceland.
Jonasson JG; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland.; Department of Pathology, Landspitali University Hospital, Reykjavik, Iceland.
Sigurdsson A; deCODE Genetics/Amgen, Reykjavik, Iceland.
Jonasdottir A; deCODE Genetics/Amgen, Reykjavik, Iceland.
Kristmundsdottir S; deCODE Genetics/Amgen, Reykjavik, Iceland.
Jonsson H; deCODE Genetics/Amgen, Reykjavik, Iceland.
Gylfason A; deCODE Genetics/Amgen, Reykjavik, Iceland.
Oddsson A; deCODE Genetics/Amgen, Reykjavik, Iceland.
Fridriksdottir R; deCODE Genetics/Amgen, Reykjavik, Iceland.
Gudjonsson SA; deCODE Genetics/Amgen, Reykjavik, Iceland.
Zink F; deCODE Genetics/Amgen, Reykjavik, Iceland.
Lund SH; deCODE Genetics/Amgen, Reykjavik, Iceland.
Rognvaldsson S; deCODE Genetics/Amgen, Reykjavik, Iceland.
Melsted P; deCODE Genetics/Amgen, Reykjavik, Iceland.; School of Engineering and Natural Sciences, University of Iceland, Reykjavik, Iceland.
Steinthorsdottir V; deCODE Genetics/Amgen, Reykjavik, Iceland.
Gudmundsson J; deCODE Genetics/Amgen, Reykjavik, Iceland.
Mikaelsdottir E; deCODE Genetics/Amgen, Reykjavik, Iceland.
Olason PI; deCODE Genetics/Amgen, Reykjavik, Iceland.
Stefansdottir L; deCODE Genetics/Amgen, Reykjavik, Iceland.
Eggertsson HP; deCODE Genetics/Amgen, Reykjavik, Iceland.
Halldorsson BV; deCODE Genetics/Amgen, Reykjavik, Iceland.; School of Science and Engineering, Reykjavik University, Reykjavik, Iceland.
Thorsteinsdottir U; deCODE Genetics/Amgen, Reykjavik, Iceland.; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland.
Agustsson TT; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland.; Department of Endocrinology and Metabolic Medicine, Landspitali University Hospital, Reykjavík, Iceland.; Faculty of Odontology, School of Health Sciences, University of Iceland, Reykjavík, Iceland.
Olafsson K; Department of Obstetrics and Gynecology, Landspitali University Hospital, Reykjavik, Iceland.
Olafsson JH; Landspitali University Hospital, Reykjavik, Iceland.; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland.
Sulem P; deCODE Genetics/Amgen, Reykjavik, Iceland.
Rafnar T; deCODE Genetics/Amgen, Reykjavik, Iceland.
Gudbjartsson DF; deCODE Genetics/Amgen, Reykjavik, Iceland.; School of Engineering and Natural Sciences, University of Iceland, Reykjavik, Iceland.
Stefansson K; deCODE Genetics/Amgen, Reykjavik, Iceland. .; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland.
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Źródło :
Cancer research [Cancer Res] 2021 Apr 15; Vol. 81 (8), pp. 1954-1964. Date of Electronic Publication: 2021 Feb 18.
Typ publikacji :
Journal Article; Meta-Analysis; Research Support, N.I.H., Extramural
MeSH Terms :
Loss of Function Mutation*
Penetrance*
Carcinoma, Basal Cell/*genetics
Protein Tyrosine Phosphatases, Non-Receptor/*genetics
Skin Neoplasms/*genetics
Uterine Cervical Neoplasms/*genetics
Age Factors ; Carcinoma, Basal Cell/epidemiology ; Case-Control Studies ; Female ; Gene Frequency ; Genes, Tumor Suppressor ; Genetic Predisposition to Disease ; Genetic Testing ; Genome-Wide Association Study ; Genotype ; Germ-Line Mutation ; Humans ; Iceland/epidemiology ; Male ; Odds Ratio ; Skin Neoplasms/epidemiology ; Tissue Banks/statistics & numerical data ; United Kingdom/epidemiology ; Uterine Cervical Neoplasms/epidemiology ; Whole Exome Sequencing/statistics & numerical data ; Whole Genome Sequencing/statistics & numerical data
Czasopismo naukowe
Tytuł :
Common and Rare Variant Prediction and Penetrance of IBD in a Large, Multi-ethnic, Health System-based Biobank Cohort.
Autorzy :
Gettler K; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York.
Levantovsky R; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York.
Moscati A; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, New York.
Giri M; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York.
Wu Y; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, New York.
Hsu NY; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York.
Chuang LS; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York.
Sazonovs A; Human Genetics, Wellcome Sanger Institute, Hinxton, Cambridgeshire, United Kingdom.
Venkateswaran S; Division of Pediatric Gastroenterology, Hepatology & Nutrition, Emory University School of Medicine, Atlanta, Georgia.
Korie U; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, New York.
Chasteau C; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, New York.
Duerr RH; Department of Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania.
Silverberg MS; Division of Gastroenterology, Mount Sinai Hospital Inflammatory Bowel Disease Centre, Toronto, Ontario, Canada.
Snapper SB; Division of Gastroenterology, Hepatology & Nutrition, Boston Children's Hospital, Boston, Massachusetts.
Daly MJ; Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts; Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland.
McGovern DP; Medicine and Biomedical Sciences, Cedars-Sinai, Los Angeles, California.
Brant SR; Division of Gastroenterology and Hepatology, Department of Medicine, Rutgers Robert Wood Johnson Medical School, and Department of Genetics and The Human Genetics Institute of New Jersey, Rutgers University, New Brunswick, New Jersey; Harvey M. and Lyn P. Meyerhoff Inflammatory Bowel Disease Center, Division of Gastroenterology, Johns Hopkins University School of Medicine, Baltimore, Maryland.
Rioux JD; Montreal Heart Institute, University of Montreal, Montreal, Canada.
Kugathasan S; Division of Pediatric Gastroenterology, Hepatology & Nutrition, Emory University School of Medicine, Atlanta, Georgia; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia.
Anderson CA; Human Genetics, Wellcome Sanger Institute, Hinxton, Cambridgeshire, United Kingdom.
Itan Y; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, New York.
Cho JH; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, New York; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, New York. Electronic address: .
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Corporate Authors :
UK IBD Genetics Consortium, National Institute of Diabetes, Digestive and Kidney Diseases Inflammatory Bowel Disease Genetics Consortium
Źródło :
Gastroenterology [Gastroenterology] 2021 Apr; Vol. 160 (5), pp. 1546-1557. Date of Electronic Publication: 2020 Dec 24.
Typ publikacji :
Journal Article; Meta-Analysis; Multicenter Study; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Multifactorial Inheritance*
Penetrance*
Polymorphism, Single Nucleotide*
African Americans/*genetics
Colitis, Ulcerative/*genetics
Crohn Disease/*genetics
Hispanic or Latino/*genetics
Jews/*genetics
Whites/*genetics
Age of Onset ; Case-Control Studies ; Colitis, Ulcerative/diagnosis ; Colitis, Ulcerative/ethnology ; Crohn Disease/diagnosis ; Crohn Disease/ethnology ; Europe/epidemiology ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Humans ; Phenotype ; Prevalence ; Race Factors ; Risk Assessment ; Risk Factors ; United States/epidemiology
Czasopismo naukowe
Tytuł :
Repeat length increases disease penetrance and severity in C9orf72 ALS/FTD BAC transgenic mice.
Autorzy :
Pattamatta A; Center for NeuroGenetics, Colllege of Medicine, University of Florida, Gainesville, FL 32610, USA.; Department of Molecular Genetics and Microbiology, Colllege of Medicine, University of Florida, Gainesville, FL 32610, USA.; University of Florida Genetics Institute, University of Florida, Gainesville, FL 32610, USA.
Nguyen L; Center for NeuroGenetics, Colllege of Medicine, University of Florida, Gainesville, FL 32610, USA.; Department of Molecular Genetics and Microbiology, Colllege of Medicine, University of Florida, Gainesville, FL 32610, USA.; University of Florida Genetics Institute, University of Florida, Gainesville, FL 32610, USA.
Olafson HR; Center for NeuroGenetics, Colllege of Medicine, University of Florida, Gainesville, FL 32610, USA.; Department of Molecular Genetics and Microbiology, Colllege of Medicine, University of Florida, Gainesville, FL 32610, USA.; University of Florida Genetics Institute, University of Florida, Gainesville, FL 32610, USA.
Scotti MM; Center for NeuroGenetics, Colllege of Medicine, University of Florida, Gainesville, FL 32610, USA.; Department of Molecular Genetics and Microbiology, Colllege of Medicine, University of Florida, Gainesville, FL 32610, USA.; University of Florida Genetics Institute, University of Florida, Gainesville, FL 32610, USA.
Laboissonniere LA; Center for NeuroGenetics, Colllege of Medicine, University of Florida, Gainesville, FL 32610, USA.; Department of Molecular Genetics and Microbiology, Colllege of Medicine, University of Florida, Gainesville, FL 32610, USA.; University of Florida Genetics Institute, University of Florida, Gainesville, FL 32610, USA.
Richardson J; Center for NeuroGenetics, Colllege of Medicine, University of Florida, Gainesville, FL 32610, USA.; University of Florida Genetics Institute, University of Florida, Gainesville, FL 32610, USA.; McKnight Brain Institute, University of Florida, Gainesville, FL 32610, USA.
Berglund JA; Center for NeuroGenetics, Colllege of Medicine, University of Florida, Gainesville, FL 32610, USA.; Department of Biochemistry and Molecular Biology, Colllege of Medicine, University of Florida, Gainesville, FL 32610, USA.; RNA Institute and Department of Biological Sciences, University at Albany, Albany, NY 12222, USA.
Zu T; Center for NeuroGenetics, Colllege of Medicine, University of Florida, Gainesville, FL 32610, USA.; Department of Molecular Genetics and Microbiology, Colllege of Medicine, University of Florida, Gainesville, FL 32610, USA.; University of Florida Genetics Institute, University of Florida, Gainesville, FL 32610, USA.
Wang ET; Center for NeuroGenetics, Colllege of Medicine, University of Florida, Gainesville, FL 32610, USA.; Department of Molecular Genetics and Microbiology, Colllege of Medicine, University of Florida, Gainesville, FL 32610, USA.; University of Florida Genetics Institute, University of Florida, Gainesville, FL 32610, USA.; McKnight Brain Institute, University of Florida, Gainesville, FL 32610, USA.
Ranum LPW; Center for NeuroGenetics, Colllege of Medicine, University of Florida, Gainesville, FL 32610, USA.; Department of Molecular Genetics and Microbiology, Colllege of Medicine, University of Florida, Gainesville, FL 32610, USA.; University of Florida Genetics Institute, University of Florida, Gainesville, FL 32610, USA.; McKnight Brain Institute, University of Florida, Gainesville, FL 32610, USA.; Fixel Institute, University of Florida, Gainesville, FL 32610, USA.
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Źródło :
Human molecular genetics [Hum Mol Genet] 2021 Feb 25; Vol. 29 (24), pp. 3900-3918.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Alternative Splicing*
DNA Repeat Expansion*
Disease Models, Animal*
Penetrance*
Amyotrophic Lateral Sclerosis/*pathology
C9orf72 Protein/*metabolism
Frontotemporal Dementia/*pathology
Amyotrophic Lateral Sclerosis/etiology ; Amyotrophic Lateral Sclerosis/metabolism ; Animals ; C9orf72 Protein/genetics ; Frontotemporal Dementia/etiology ; Frontotemporal Dementia/metabolism ; Humans ; Mice ; Mice, Transgenic ; Mutation ; Phenotype
Czasopismo naukowe

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