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Pancreas specific transcription factor, 1a

Ptf1a, PTF1-p48
This gene encodes a protein that is a component of the pancreas transcription factor 1 complex (PTF1) and is known to have a role in mammalian pancreatic development. The protein plays a role in determining whether cells allocated to the pancreatic buds continue towards pancreatic organogenesis or revert back to duodenal fates. The protein is thought to be involved in the maintenance of exocrine pancreas-specific gene expression including elastase 1 and amylase. Mutations in this gene cause cerebellar agenesis and loss of expression is seen in ductal type pancreas cancers. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: PDX-1, FATE, CAN, Insulin, p48
Papers on Ptf1a
PINCAGE: Probabilistic integration of cancer genomics data for perturbed gene identification and sample classification.
New
Pedersen et al., Århus, Denmark. In Bioinformatics, Feb 2016
We identify new biomarker candidates of breast cancer development (PTF1A, RABIF, RAG1AP1, TIMM17A, LOC148145) and progression (SERPINE3, ZNF706).
Inactivation of TGF-β receptor II signaling in pancreatic epithelial cells promotes acinar cell proliferation, acinar-to-ductal metaplasia and fibrosis during pancreatitis.
New
Graf et al., Zürich, Switzerland. In J Pathol, Nov 2015
To this aim, we conditionally inactivated TGF-β receptor II (TGF-β RII) using a Cre/loxP system under the control of pancreas transcription factor 1a (PTF1a) promoter specific for the pancreatic epithelium, and evaluated the molecular and cellular changes in a mouse model of cerulein-induced pancreatitis.
Genetic characteristics, clinical spectrum, and incidence of neonatal diabetes in the Emirate of AbuDhabi, United Arab Emirates.
New
Ellard et al., Abu Dhabi, United Arab Emirates. In Am J Med Genet A, Nov 2015
Of the PNDM patients, nine had recessive EIF2AK3 mutations, six had homozygous INS mutations, two with deletion of the PTF1A enhancer, one was heterozygous for KCNJ11 mutation, one harboured a novel ABCC8 variant, and 4/21 without mutations in all known PNDM genes.
Development of the pancreas in medaka, Oryzias latipes, from embryo to adult.
New
Takeda et al., Tokyo, Japan. In Dev Growth Differ, Oct 2015
To address conserved and unique features of fish pancreas development, we performed extensive analyses of pancreatic development in medaka embryos and adults using pdx1- and ptf1a-transgenic medaka, in situ hybridization and immunohistochemistry.
Genome, Exome, and Targeted Next-Generation Sequencing in Neonatal Diabetes.
Review
New
Ellard et al., Exeter, United Kingdom. In Pediatr Clin North Am, Aug 2015
For neonatal diabetes, the use of these technologies has resulted in the identification of 2 novel disease genes (GATA6 and STAT3) and a novel regulatory element of PTF1A, in which mutations cause pancreatic agenesis.
Xenopus as a Model for GI/Pancreas Disease.
New
Horb et al., Madagascar. In Curr Pathobiol Rep, Jul 2015
hhex, ptf1a, ngn3) that underlie normal development as well as disease progression.
Variable Phenotype of Diabetes Mellitus in Siblings with a Homozygous PTF1A Enhancer Mutation.
Kandemir et al., Ankara, Turkey. In Horm Res Paediatr, 2014
Recently, PTF1A enhancer mutations have been shown to cause neonatal diabetes associated with pancreatic agenesis.
Mechanisms regulating GABAergic neuron development.
Review
Partanen et al., Heidelberg, Germany. In Cell Mol Life Sci, 2014
By comparing the molecular regulation of these events across CNS, we broadly identify three regions utilizing distinct molecular toolkits for GABAergic fate determination: telencephalon-anterior diencephalon (DLX2 type), posterior diencephalon-midbrain (GATA2 type) and hindbrain-spinal cord (PTF1A and TAL1 types).
Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis.
Impact
Hattersley et al., Exeter, United Kingdom. In Nat Genet, 2014
This analysis uncovered six different recessive mutations in a previously uncharacterized ~400-bp sequence located 25 kb downstream of PTF1A (encoding pancreas-specific transcription factor 1a) in ten families with pancreatic agenesis.
Rbms3, an RNA-binding protein, mediates the expression of Ptf1a by binding to its 3'UTR during mouse pancreas development.
GeneRIF
Chiang et al., T'ai-chung-shih, Taiwan. In Dna Cell Biol, 2012
binding of Rbms3 to the 3'UTR of Ptf1a regulates the production of the Ptf1a protein
Tlx1/3 and Ptf1a control the expression of distinct sets of transmitter and peptide receptor genes in the developing dorsal spinal cord.
GeneRIF
Cheng et al., Shanghai, China. In J Neurosci, 2012
Tlx1/3 and Ptf1a, the key transcription factors for fate determination of glutamatergic and GABAergic neurons in the dorsal spinal cord
RNA profiling and chromatin immunoprecipitation-sequencing reveal that PTF1a stabilizes pancreas progenitor identity via the control of MNX1/HLXB9 and a network of other transcription factors.
GeneRIF
Grapin-Botton et al., Lausanne, Switzerland. In Mol Cell Biol, 2012
Mnx1, a gene that is absolutely required in pancreas progenitors, is a major direct target of Ptf1a and is regulated by a distant enhancer element.
The role of pancreatic imaging in monogenic diabetes mellitus.
Review
Njølstad et al., Bergen, Norway. In Nat Rev Endocrinol, 2012
In neonatal diabetes mellitus resulting from mutations in EIF2AK3, PTF1A, HNF1B, PDX1 or RFX6, pancreatic aplasia or hypoplasia is typical.
MiR-18a regulates expression of the pancreatic transcription factor Ptf1a in pancreatic progenitor and acinar cells.
GeneRIF
Teng et al., Harbin, China. In Febs Lett, 2012
miR-18a plays a fine-tuning role in regulating pancreatic progenitors and exocrine cells through the repression of Ptf1a expression.
Ptf1a-mediated control of Dll1 reveals an alternative to the lateral inhibition mechanism.
GeneRIF
Serup et al., Denmark. In Development, 2012
Ptf1a-induced Dll1 expression stimulates multipotent pancreatic progenitor cells proliferation and pancreatic growth by maintaining Hes1 expression and Ptf1a protein levels.
GATA6 haploinsufficiency causes pancreatic agenesis in humans.
Impact
Ellard et al., Exeter, United Kingdom. In Nat Genet, 2012
Rare mutations in PDX1 and PTF1A can cause pancreatic agenesis, however, most instances of this disorder are of unknown origin.
Cerebellar development and disease.
Review
Gleeson et al., Chicago, United States. In Curr Opin Neurobiol, 2008
Mouse studies elucidating the role of Ptf1a as a cerebellar ventricular zone GABerigic fate switch were actually preceded by the recognition that PTF1A mutations in humans cause cerebellar agenesis, a birth defect of the human cerebellum.
Characterization of Kras-mediated pancreatic tumorigenesis in zebrafish.
Review
Leach et al., Baltimore, United States. In Methods Enzymol, 2007
In order to examine the earliest in vivo effects of oncogenic Kras expression in the exocrine pancreas, we generated two lines of zebrafish expressing eGFP alone or eGFP fused to human Kras with an activating mutation in codon 12 (Kras G12V) driven by ptf1a regulatory elements using a BAC recombineering strategy (Park et al., 2008).
Mutations in PTF1A cause pancreatic and cerebellar agenesis.
Impact
Houlston et al., United Kingdom. In Nat Genet, 2004
Positional cloning identified the mutations 705insG and C886T in the gene PTF1A, encoding pancreas transcription factor 1alpha, as disease-causing sequence changes.
The role of the transcriptional regulator Ptf1a in converting intestinal to pancreatic progenitors.
Impact
GeneRIF
Wright et al., Nashville, United States. In Nat Genet, 2002
evidence that Ptf1a expression is specifically connected to the acquisition of pancreatic fate by undifferentiated foregut endoderm
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