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Deletion in the POU1F1 gene is associated with Combined pituitary hormone deficiency.
This result strongly suggests the possibility, for the first time, that isolated mutations in the short isoform of POU1F1 could be sufficient for induction of POU1F1-related combined pituitary hormone deficiency.
High expression level of Pit-1 was significantly associated with poor overall survival of the patients (P=0.001) and Cox regression analysis indicated that Pit-1 might be a prognostic factor for breast cancer prognosis (HR=1.955, 95% CI=1.295-3.035, P=0.003).
The present study reports on screening of POU1F1, PROP1, and HESX1 in combined pituitary hormone deficiency patients and the novel variations identified.
Data suggest that the first screening step diagnosis for pituitary adenoma was determined based upon immunohistochemical (IHC) scores for Pit-1, SF-1, and ACTH.
A missense POU1F1 mutation is associated with isolated growth hormone deficiency.
Data identify silent subtype 3 adenomas as aggressive monomorphous plurihormonal adenomas of Pit-1 lineage that may be associated with hyperthyroidism, acromegaly or galactorrhea and amenorrhea.
investigated the specific mutations in PROP1, POU1F1, LHX3, and HESX1 genes in patients with combined pituitary hormone deficiency (CPHD) in Turkey
Pit-1 regulates MMP-1 and MMP-13, and that inhibition of MMP-13 blocked invasiveness to lung in Pit-1-overexpressed breast cancer cells.
These results suggest that the anti-PIT-1 antibody is not a cause but a marker of anti-PIT-1 antibody syndrome, in which cytotoxic T lymphocytes play a pivotal role in the pathogenesis.
New target genes of POU1F1 and downstream networks controlled by this factor.
Expression analysis of HMGA1, HMGA2 and PIT1 in human pituitary adenomas of different histological types revealed a direct correlation between PIT1 and HMGA expression levels.
This is the first report of a mutation at the exon 2 donor splice site of POU1F1, affecting TAD-R2.
HSII confers robust POU1F1-dependent activation of hGH-N in this system.
study, which identifies a novel loss-of-function mutation in POU1F1, describes the phenotype of a rare condition in a patient followed from the first weeks of life to adulthood
Data show no mutations in HESX1, PROP1, and POU1F1 genes, seven different mutations in CTNNB1 in 8/16 patients, and hyperexpression of miR-150.
Pit-1 overexpression or knockdown in human breast cancer cell lines induced profound phenotypic changes in the expression of proteins involved in cell proliferation, apoptosis, and invasion.
These results support the inference that W194XProp1 is unable to increase POU1F1 gene expression by the defect of transactivating domain and that S156insTProp1 is unable to increase due to the loss of DNA-binding activity.
These findings are consistent with a role for Pit-1 as an initiating factor in human growth hormone (hGH) locus activation during somatotrope ontogeny, acting through binding sites at the locus control region.
Novel association of two rare conditions Pit-1 mutation and lipoedema in a family that has not been described before.
The increase uptake of pentavalent arsenic in diabetic mouse tissues may be associated with increased PIT1 and/or PIT2 expression.
Pit1 deletion inhibited USP7/IRS1 dissociation upon insulin stimulation.
may regulate growth hormone expression in somatotropes through the stimulation of POU1F1
We thereby analyzed multiple genomic publications related to POU1F1 and pituitary development in this study to identify genes and agents regulating POU1F1 lineage cell differentiation.
The maintenance conformation at the Pit-1 chromatin locus is dependent on autoregulation by Pit-1 protein.
Mice with hypomorphic expression of the sodium-phosphate cotransporter PiT1/Slc20a1 have an unexpected normal bone mineralization.
EKLF increases PIT1 expression during RBC maturation by binding to its promoter in vivo.
Results suggested that Pit-1 w could be involved in the paracrine/autocrine system in mice and may be necessary for normal testicular function via its possible role in regulating PRL expression in testicular germ cells.
Significant differences in gene expression were noted between each mutant and their normal littermates, as well as between Prop1 and Pit1 mutants.
Data indicate that protective alleles of Mtap1a are not sufficient to rescue DW/J-Pou1f1dw/dw mutant hearing.
Mouse Pit-1 w plays a role in spermatogenesis. This is the first report demonstrating the expression of Pit-1 variants arising from alternative promoters in mammals.
miR-26b regulates Pit-1 expression by inhibiting Lef-1 expression and may promote Pit-1 lineage differentiation during pituitary development.
Data show that the PiT-1 embryos displayed anemia, a defect in yolk sac vasculature, and arrested growth, and indicate that PiT-1 has a necessary, nonredundant role in embryonic development.
Pit1 mutation may result in physiological homeostasis that favors longevity
the Pit1 mutation results in a decreased activity of the insulin/IGF-1 pathway and plays a key role in the longevity of the Snell dwarf mouse
multiple domains of Pit-1 are required for full synergy with GATA-2 and sequences between the two binding sites contribute to co-occupancy with both factors on the proximal TSH beta promoter
specificity protein-1, PPARgamma, and pituitary protein transcription factor-1 have roles in transcriptional regulation of the murine CORS-26 promoter
Down-regulation of protein synthesis may be an important characteristic of the Pit-1 mutation and longevity of the Snell dwarf mouse.
The redistribution of co-repressor complexes by Pit-1 might represent an important mechanism by which transcription factors direct changes in cell-specific gene expression.
The association between a MspI polymorphism in the porcine PIT-1 gene and backfat thickness in Belgian slaughter pigs was confirmed in a number of breeds. In crossbred progeny the MspI D allele could possibly be associated with a higher backfat thickness.
paper demonstrated that the genetic variation in intron 1 of the POU1F1 (Pit1) gene was high and these polymorphisms may provide useful makers for QTL analysis
The polymorphisms in the PIT1 gene of 103 pigs were examined and their frequencies in the maternal and paternal lineages of the Pietrain and Large White breeds, were compared.
The association of IGF1, GH, and PIT1 markers with growth and reproductive traits were assessed.
homozygote genotypes of GH (LL) and beta-LG (AA) were superior compared to heterozygote genotypes, whereas, the heterozygote genotype of Pit-1 gene (AB) was desirable
results showed that GC genotype at 1178 locus of POU1F1 gene was advantageous for milk yield, milk protein yield, and milk fat yield
expression analysis of pathway genes in preimplantation embryos
Study of genetic variation in Yakutian cattle (Bos taurus L.) using the prolactin bPRL, growth hormone bGH, and transcription factor bPit-1 genes
No significant associations of the TaqI polymorphism of the bovine POU1F1 gene with body weight and average daily gain for different growth periods were observed.
The POU1F1 gene is associated with economically important traits in dairy cattle; an SNP in exon 3 of POU1F1 that changes a proline to a histidine was identified.
Results estimate the allele frequencies in polymorphic site of exon six of POU1F1 in three Iranian native and Holstein cattle, and show no significant association between POU1F1 polymorphism and milk production.
The association of the polymorphism of the POU1F1 gene with growth traits among Qinchuan, Limousin x Qinchuan, Angus x Qinchuan and Germany Yellow x Qinchuan crosses was analyzed.
This gene encodes a member of the POU family of transcription factors that regulate mammalian development. The protein regulates expression of several genes involved in pituitary development and hormone expression. Mutations in this genes result in combined pituitary hormone deficiency. Multiple transcript variants encoding different isoforms have been found for this gene.
POU domain, class 1, transcription factor 1
, growth hormone factor 1
, pituitary-specific positive transcription factor 1
, pituitary-specific transcription factor 1
, POU domain, class 1, transcription factor 1 (Pit1, growth hormone factor 1)
, pituitary specific transcription factor 1, related sequence 1
, pituitary-specific positive transcription factor 1 variant w
, Pituary specific transcription factor 1 (growth hormone factor 1)
, homeodomain protein for Growth Hormone (GH)
, pituitary specific transcription factor
, pituitary-specific positive transcription factor 1 variant alpha
, pituitary specific transcription factor 1
, POU-domain transcriptional regulator
, pituitary growth factor
, pit-1/GHF-1 transcription factor
, pituitary-specific transcription factor