NOTCH2 mutations in Alagille syndrome. - Wikidata - wikimedia - TriplyDB

NOTCH2 mutations in Alagille syndrome.

NOTCH2 mutations in Alagille syndrome.

http://www.wikidata.org/entity/Q39419524

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Alagille syndrome: clinical perspectives Kick it up a notch: Notch signaling and kidney fibrosis Of mice and men: molecular genetics of congenital heart disease Role of Notch signaling in the mammalian heart Neonatal Cholestasis - Differential Diagnoses, Current Diagnostic Procedures, and Treatment Notch signaling in human development and disease Jagged1 (JAG1): Structure, expression, and disease associations Microarray data reveal relationship between Jag1 and Ddr1 in mouse liver.Turn It Down a Notch Novel Heterozygous Mutations in JAG1 and NOTCH2 Genes in a Neonatal Patient with Alagille Syndrome.Identification of a human splenic marginal zone B cell precursor with NOTCH2-dependent differentiation properties.Embryonic Development of the Bicuspid Aortic Valve.Prioritization of neurodevelopmental disease genes by discovery of new mutations.Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome Pathological fracture of the femur in Alagille syndrome that was treated with low-intensity pulsed ultrasound stimulation and an Ilizarov ring fixator: a case report.Left ventricular hypertrabeculation/noncompaction with epilepsy, other heart defects, minor facial anomalies and new copy number variants Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology.Polymorphism analysis and new JAG1 gene mutations of Alagille syndrome in Mexican population.Notch signaling in skeletal health and disease.JAGGED1 gene variations in Chinese twin sisters with Alagille syndrome.Notch1 and Notch2 in Podocytes Play Differential Roles During Diabetic Nephropathy Development Pancreatic insufficiency is not a prevalent problem in Alagille syndrome Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease Notch Signaling and the Skeleton.Oncogenic role of the Notch pathway in primary liver cancer.The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype.Renal involvement and the role of Notch signalling in Alagille syndrome.Alagille, Notch, and robustness: why duplicating systems does not ensure redundancy.Genetic, environmental, and epigenetic factors involved in CAKUT.The complex role of NOTCH receptors and their ligands in the development of hepatoblastoma, cholangiocarcinoma and hepatocellular carcinoma.Morphogenesis of liver epithelial cells.Mapping Sites of O-Glycosylation and Fringe Elongation on Drosophila Notch.Adult-onset renal failure in a family with Alagille syndrome with proteinuria and a novel JAG1 mutation.The Varied Roles of Notch in Cancer.Clinical utility gene card for: Alagille Syndrome (ALGS)Floating-Harbor syndrome: SRCAP mutations are not restricted to exon 34.Development of a Novel Tool to Assess the Impact of Itching in Pediatric Cholestasis.Alagille syndrome: Genetics and Functional Models.Combined genetic analyses can achieve efficient diagnostic yields for subjects with Alagille syndrome and incomplete Alagille syndrome.An Atypical Presentation of Alagille Syndrome.

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NOTCH2 mutations in Alagille syndrome.

http://www.wikidata.org/entity/Q39419524

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2011 nî lūn-bûn

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2011年の論文

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2011年学术文章

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2011年学术文章

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2011年学术文章

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2011年学术文章

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2011年学术文章

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2011年學術文章

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2011年學術文章

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2011年學術文章

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name

NOTCH2 mutations in Alagille syndrome.

@en

NOTCH2 mutations in Alagille syndrome.

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type

label

NOTCH2 mutations in Alagille syndrome.

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NOTCH2 mutations in Alagille syndrome.

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prefLabel

NOTCH2 mutations in Alagille syndrome.

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NOTCH2 mutations in Alagille syndrome.

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JMEDGENET-2011-100544

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Journal of Medical Genetics

P1476

NOTCH2 mutations in Alagille syndrome.

@en

P2093

Anne Hutchinson

http://www.w3.org/2001/XMLSchema#string

Binita Maya Kamath

http://www.w3.org/2001/XMLSchema#string

David A Piccoli

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Grace Chao

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Ian D Krantz

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Jennifer Gerfen

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Kathleen M Loomes

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Laura Leonard

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Nancy Bettina Spinner

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Pablo Lapunzina

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P2860

Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis

NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

Mutations in NOTCH1 cause aortic valve disease

Mutations in the human Jagged1 gene are responsible for Alagille syndrome

Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1

Truncated mammalian Notch1 activates CBF1/RBPJk-repressed genes by a mechanism resembling that of Epstein-Barr virus EBNA2

Structural and mechanistic insights into cooperative assembly of dimeric Notch transcription complexes

Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome

Mouse jagged1 physically interacts with notch2 and other notch receptors. Assessment by quantitative methods

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138-144

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scholarly article

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10.1136/JMEDGENET-2011-100544

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2

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49

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Gideon M. Hirschfield

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2011-12-29T00:00:00Z

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22209762

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3682659

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