Mutations in PTF1A cause pancreatic and cerebellar agenesis
about
Novel GATA6 mutations in patients with pancreatic agenesis and congenital heart malformationsHepatocyte nuclear factor-1 beta mutations cause neonatal diabetes and intrauterine growth retardation: support for a critical role of HNF-1? in human pancreatic developmentPTF1 is an organ-specific and Notch-independent basic helix-loop-helix complex containing the mammalian Suppressor of Hairless (RBP-J) or its paralogue, RBP-L.Congenital hypoplasia of the cerebellum: developmental causes and behavioral consequencesCerebellar development and diseaseExpression of hepatoma-derived growth factor family members in the adult central nervous system.Genome-edited human stem cell-derived beta cells: a powerful tool for drilling down on type 2 diabetes GWAS biologyExpanding the genetic toolkit in Xenopus: Approaches and opportunities for human disease modelingCongenital basis of posterior fossa anomaliesNeonatal diabetes: an expanding list of genes allows for improved diagnosis and treatmentControl of cell identity in pancreas development and regenerationPathogenesis of the metabolic syndrome: insights from monogenic disordersGenetics and pathophysiology of neonatal diabetes mellitus.Translating discovery in zebrafish pancreatic development to human pancreatic cancer: biomarkers, targets, pathogenesis, and therapeuticsPtf1a directly controls expression of immunoglobulin superfamily molecules Nephrin and Neph3 in the developing central nervous systemRNA profiling and chromatin immunoprecipitation-sequencing reveal that PTF1a stabilizes pancreas progenitor identity via the control of MNX1/HLXB9 and a network of other transcription factorsEarly pancreatic development requires the vertebrate Suppressor of Hairless (RBPJ) in the PTF1 bHLH complexComparative analysis of Neph gene expression in mouse and chicken developmentHomozygous mutations in NEUROD1 are responsible for a novel syndrome of permanent neonatal diabetes and neurological abnormalities.Ptf1a is expressed transiently in all types of amacrine cells in the embryonic zebrafish retina.Origin and determination of inhibitory cell lineages in the vertebrate retinaZebrafish reporter lines reveal in vivo signaling pathway activities involved in pancreatic cancer.Update on neuroimaging phenotypes of mid-hindbrain malformations.PINCAGE: probabilistic integration of cancer genomics data for perturbed gene identification and sample classification.The genetics of cerebellar malformationsEctopic expression of Ptf1a induces spinal defects, urogenital defects, and anorectal malformations in Danforth's short tail mice.Ptf1a triggers GABAergic neuronal cell fates in the retina.Novel approaches to studying the genetic basis of cerebellar developmentCombined informatic and expression screen identifies the novel DAF-16 target HLH-13Many faces of monogenic diabetesTransformation of the cerebellum into more ventral brainstem fates causes cerebellar agenesis in the absence of Ptf1a functionPancreas and gallbladder agenesis in a newborn with semilobar holoprosencephaly, a case report.GATA6 haploinsufficiency causes pancreatic agenesis in humans.DNA methylation changes in atypical adenomatous hyperplasia, adenocarcinoma in situ, and lung adenocarcinoma.Replacement of Rbpj with Rbpjl in the PTF1 complex controls the final maturation of pancreatic acinar cells.Neonatal diabetes mellitus: a model for personalized medicineRecessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis.Xenopus pancreas developmentWolcott-Rallison syndromePancreatic stem/progenitor cells for the treatment of diabetes.
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P2860
Mutations in PTF1A cause pancreatic and cerebellar agenesis
description
2004 nî lūn-bûn
@nan
2004 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Mutations in PTF1A cause pancreatic and cerebellar agenesis
@ast
Mutations in PTF1A cause pancreatic and cerebellar agenesis
@en
Mutations in PTF1A cause pancreatic and cerebellar agenesis
@en-gb
Mutations in PTF1A cause pancreatic and cerebellar agenesis
@nl
type
label
Mutations in PTF1A cause pancreatic and cerebellar agenesis
@ast
Mutations in PTF1A cause pancreatic and cerebellar agenesis
@en
Mutations in PTF1A cause pancreatic and cerebellar agenesis
@en-gb
Mutations in PTF1A cause pancreatic and cerebellar agenesis
@nl
prefLabel
Mutations in PTF1A cause pancreatic and cerebellar agenesis
@ast
Mutations in PTF1A cause pancreatic and cerebellar agenesis
@en
Mutations in PTF1A cause pancreatic and cerebellar agenesis
@en-gb
Mutations in PTF1A cause pancreatic and cerebellar agenesis
@nl
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P2860
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Mutations in PTF1A cause pancreatic and cerebellar agenesis
@en
P2093
Christina Fleischmann
Christine Garrett
Emma L Edghill
Gabrielle S Sellick
Graham Goodwin
Irene Stolte-Dijkstra
Karen T Barker
Peter K Wellauer
Richard J Coleman
P2860
P2888
P304
P3181
P356
10.1038/NG1475
P407
P577
2004-12-01T00:00:00Z
P6179
1009621241