Early Developmental Perturbations in a Human Stem Cell Model of MODY5/HNF1B Pancreatic Hypoplasia

scientific article published on 8 February 2016

Early Developmental Perturbations in a Human Stem Cell Model of MODY5/HNF1B Pancreatic Hypoplasia is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1016/J.STEMCR.2016.01.007
P932PMC publication ID4788763
P698PubMed publication ID26876668
P5875ResearchGate publication ID294422153

P50authorAdrian Kee Keong TeoQ42416132
Ercüment DiriceQ58442881
P2093author name stringRohit N Kulkarni
Erling Tjora
Helge Raeder
Hwee Hui Lau
Ivan Achel Valdez
P2860cites workvHNF1 is expressed in epithelial cells of distinct embryonic origin during development and precedes HNF1 expressionQ68331422
Lack of pancreatic body and tail in HNF1B mutation carriersQ81678416
Activin and BMP4 synergistically promote formation of definitive endoderm in human embryonic stem cellsQ84796947
PAX6 mutation as a genetic factor common to aniridia and glucose intoleranceQ24292062
Severe pancreas hypoplasia and multicystic renal dysplasia in two human fetuses carrying novel HNF1beta/MODY5 mutationsQ24294715
Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequenceQ24311830
Mutations in PTF1A cause pancreatic and cerebellar agenesisQ24314872
Pluripotency factors regulate definitive endoderm specification through eomesoderminQ24337560
New opportunities: harnessing induced pluripotency for discovery in diabetes and metabolismQ26995562
HNF-1 alpha and HNF-1 beta (vHNF-1) share dimerization and homeo domains, but not activation domains, and form heterodimers in vitroQ28508478
vHNF1 is a homeoprotein that activates transcription and forms heterodimers with HNF1Q28582326
Selective deletion of the Hnf1beta (MODY5) gene in beta-cells leads to altered gene expression and defective insulin releaseQ28586448
GATA6 haploinsufficiency causes pancreatic agenesis in humansQ33775747
Lack of TCF2/vHNF1 in mice leads to pancreas agenesisQ33817745
The developmental regulator Pax6 is essential for maintenance of islet cell function in the adult mouse pancreasQ34552224
Alpha cell function in health and disease: influence of glucagon-like peptide-1.Q34560507
Distinct roles of HNF1beta, HNF1alpha, and HNF4alpha in regulating pancreas development, beta-cell function and growth.Q34699663
TEAD and YAP regulate the enhancer network of human embryonic pancreatic progenitorsQ35615595
Derivation of human induced pluripotent stem cells from patients with maturity onset diabetes of the youngQ36635948
A distant upstream promoter of the HNF-4alpha gene connects the transcription factors involved in maturity-onset diabetes of the youngQ38296057
PDX1 binds and represses hepatic genes to ensure robust pancreatic commitment in differentiating human embryonic stem cellsQ38890893
Comparable generation of activin-induced definitive endoderm via additive Wnt or BMP signaling in absence of serum.Q38971167
Hepatocyte nuclear factor 4 alpha isoforms originated from the P1 promoter are expressed in human pancreatic beta-cells and exhibit stronger transcriptional potentials than P2 promoter-driven isoforms.Q40655150
A pancreatic beta -cell-specific enhancer in the human PDX-1 gene is regulated by hepatocyte nuclear factor 3beta (HNF-3beta ), HNF-1alpha, and SPs transcription factorsQ40817135
Mutations in hepatocyte nuclear factor-1beta and their related phenotypesQ43167987
Genetic analysis reveals that PAX6 is required for normal transcription of pancreatic hormone genes and islet developmentQ44055107
Conditional inactivation of Pax6 in the pancreas causes early onset of diabetesQ44863940
Pax6 haploinsufficiency causes abnormal metabolic homeostasis by down-regulating glucagon-like peptide 1 in miceQ46179187
Paired box 6 (PAX6) regulates glucose metabolism via proinsulin processing mediated by prohormone convertase 1/3 (PC1/3).Q46228118
Pancreatic beta cell-specific transcription of the pdx-1 gene. The role of conserved upstream control regions and their hepatic nuclear factor 3beta sitesQ47888790
Exocrine pancreatic function in hepatocyte nuclear factor 1β-maturity-onset diabetes of the young (HNF1B-MODY) is only moderately reduced: compensatory hypersecretion from a hypoplastic pancreas.Q51060317
Genetic investigation in an Italian child with an unusual association of atrial septal defect, attributable to a new familial GATA4 gene mutation, and neonatal diabetes due to pancreatic agenesisQ51899509
Characterization of the mouse HNF-4 gene and its expression during mouse embryogenesis.Q52213231
P433issue3
P304page(s)357-367
P577publication date2016-02-08
P1433published inStem Cell ReportsQ27725039
P1476titleEarly Developmental Perturbations in a Human Stem Cell Model of MODY5/HNF1B Pancreatic Hypoplasia
P478volume6