NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway
about
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone lossTruncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosisJagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosisFbxw7 regulates lipid metabolism and cell fate decisions in the mouse liverVACTERL/VATER AssociationAlagille syndrome: pathogenesis, diagnosis and managementThrombospondin 2 potentiates notch3/jagged1 signalingAlagille syndrome: clinical perspectivesImpact of notch signaling on inflammatory responses in cardiovascular disordersGenetics of congenital heart disease: the glass half emptyOf mice and men: molecular genetics of congenital heart diseaseFrom fly wings to targeted cancer therapies: a centennial for notch signalingAtypical causes of cholestasisNotch regulation of bone development and remodeling and related skeletal disordersPhysiological notch signaling maintains bone homeostasis via RBPjk and Hey upstream of NFATc1Neonatal Cholestasis - Differential Diagnoses, Current Diagnostic Procedures, and TreatmentMutations in NOTCH2 in families with Hajdu-Cheney syndromeMutations in NOTCH1 cause Adams-Oliver syndromeHaploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac AnomaliesEndothelial deletion of murine Jag1 leads to valve calcification and congenital heart defects associated with Alagille syndromeJagged1 in the portal vein mesenchyme regulates intrahepatic bile duct development: insights into Alagille syndromeHes1 is expressed in the second heart field and is required for outflow tract developmentThe association of Notch2 and NF-kappaB accelerates RANKL-induced osteoclastogenesisJagged1 (JAG1): Structure, expression, and disease associationsWhole-genome sequencing in an autism multiplex familyGenetics and Genomics of Congenital Heart Disease.Requirement for Jagged1-Notch2 signaling in patterning the bones of the mouse and human middle ear.Microarray data reveal relationship between Jag1 and Ddr1 in mouse liver.Genomewide expression analysis in zebrafish mind bomb alleles with pancreas defects of different severity identifies putative Notch responsive genesNotch signaling regulates bile duct morphogenesis in miceOSM-11 facilitates LIN-12 Notch signaling during Caenorhabditis elegans vulval development.Bile composition in Alagille Syndrome and PFIC patients having Partial External Biliary Diversion.Early life predictive markers of liver disease outcome in an International, Multicentre Cohort of children with Alagille syndromeControlling destiny through chemistry: small-molecule regulators of cell fate.The contribution of Notch1 to nephron segmentation in the developing kidney is revealed in a sensitized Notch2 background and can be augmented by reducing Mint dosage.Notch signaling in glioblastoma: a developmental drug target?RBPjkappa-dependent Notch signaling regulates mesenchymal progenitor cell proliferation and differentiation during skeletal developmentReduced Notch signaling leads to renal cysts and papillary microadenomas.Spectrum of JAG1 gene mutations in Polish patients with Alagille syndromePathologic lower extremity fractures in children with Alagille syndrome.
P2860
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P2860
NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway
description
2006 nî lūn-bûn
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2006 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
NOTCH2 mutations cause Alagill ...... of the notch signaling pathway
@ast
NOTCH2 mutations cause Alagill ...... of the notch signaling pathway
@en
NOTCH2 mutations cause Alagill ...... of the notch signaling pathway
@en-gb
NOTCH2 mutations cause Alagill ...... of the notch signaling pathway
@nl
type
label
NOTCH2 mutations cause Alagill ...... of the notch signaling pathway
@ast
NOTCH2 mutations cause Alagill ...... of the notch signaling pathway
@en
NOTCH2 mutations cause Alagill ...... of the notch signaling pathway
@en-gb
NOTCH2 mutations cause Alagill ...... of the notch signaling pathway
@nl
prefLabel
NOTCH2 mutations cause Alagill ...... of the notch signaling pathway
@ast
NOTCH2 mutations cause Alagill ...... of the notch signaling pathway
@en
NOTCH2 mutations cause Alagill ...... of the notch signaling pathway
@en-gb
NOTCH2 mutations cause Alagill ...... of the notch signaling pathway
@nl
P2093
P2860
P3181
P356
P1476
NOTCH2 mutations cause Alagill ...... of the notch signaling pathway
@en
P2093
Daniel M Warthen
David A Piccoli
Ian D Krantz
Nancy B Spinner
Pedro A Sanchez-Lara
Ryan McDaniell
P2860
P304
P3181
P356
10.1086/505332
P407
P50
P577
2006-05-10T00:00:00Z