المؤلفون: Gilbert MA; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia and The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Bauer RC; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia and The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Rajagopalan R; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia and The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Grochowski CM; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia and The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Chao G; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia and The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., McEldrew D; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia and The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Nassur JA; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia and The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Rand EB; Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Children's Hospital of Philadelphia and The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Krock BL; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia and The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Kamath BM; Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Hospital for Sick Children and the University of Toronto, Toronto, Canada., Krantz ID; Division of Human Genetics, Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Department of Pediatrics, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania., Piccoli DA; Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Children's Hospital of Philadelphia and The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Loomes KM; Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Children's Hospital of Philadelphia and The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Spinner NB; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia and The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.

المصدر: Human mutation [Hum Mutat] 2019 Dec; Vol. 40 (12), pp. 2197-2220. Date of Electronic Publication: 2019 Aug 26.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

مواضيع طبية MeSH: Loss of Function Mutation* , Mutation, Missense*, Alagille Syndrome/*genetics , Jagged-1 Protein/*genetics , Receptor, Notch2/*genetics, Alagille Syndrome/metabolism ; Female ; Genetic Predisposition to Disease ; Humans ; Jagged-1 Protein/metabolism ; Male ; Mutation Rate ; Pedigree ; Receptor, Notch2/metabolism

المؤلفون: Bauer RC; Department of Pediatrics, The Children's Hospital of Philadelphia, 34th Street and Civic Center Boulevard, Philadelphia, PA 19104, USA., Laney AO, Smith R, Gerfen J, Morrissette JJ, Woyciechowski S, Garbarini J, Loomes KM, Krantz ID, Urban Z, Gelb BD, Goldmuntz E, Spinner NB

المصدر: Human mutation [Hum Mutat] 2010 May; Vol. 31 (5), pp. 594-601.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

مواضيع طبية MeSH: Calcium-Binding Proteins/*genetics , Calcium-Binding Proteins/*metabolism , Intercellular Signaling Peptides and Proteins/*genetics , Intercellular Signaling Peptides and Proteins/*metabolism , Membrane Proteins/*genetics , Membrane Proteins/*metabolism , Pulmonary Valve Stenosis/*genetics , Tetralogy of Fallot/*genetics, Alagille Syndrome/genetics ; Animals ; DNA Mutational Analysis ; Female ; Glycosylation ; Humans ; Jagged-1 Protein ; Male ; Mice ; Mutation ; Mutation, Missense ; NIH 3T3 Cells ; Pedigree ; Protein Processing, Post-Translational ; Serrate-Jagged Proteins ; Signal Transduction/genetics