Property Summary

NCBI Gene PubMed Count 61
Grant Count 43
R01 Count 22
Funding $3,396,271.65
PubMed Score 142.93
PubTator Score 305.06

Knowledge Summary

Patent

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Gene RIF (45)

PMID Text
26812162 Data show that human paired like homeodomain factor 1 (PROP1) can substitute functionally for mouse Prop1.
26111865 A novel heterozygous mutation in the HESX1 gene and a novel homozygous mutation in the PROP1 gene were detected in 2 pedigrees with combined pituitary hormone deficiency
26059845 the most frequent variants in the PROP1 gene are not a consequence of variant hot spots as previously assumed, but are founder variants.
25581745 The c.301_302delAG homozygous genotype had a high frequency of 38%, reaching 100% in group with familial cases of multiple pituitary hormone deficiency and 16% in group with sporadic forms of MPHD.
25557026 The p.R73C PROP1 mutation was the most frequent mutation in Congenital hypopituitarism in a Moroccan cohort.
25500790 investigated the specific mutations in PROP1, POU1F1, LHX3, and HESX1 genes in patients with combined pituitary hormone deficiency (CPHD) in Turkey
25434367 The various levels of specific miRNAs, particularly miR-593 and miR-511 whose direct target is the PROP1 gene, may serve as a non-invasive diagnostic biomarkers for children with CPHD.
24178788 High prevalence of PROP1 defects in Lithuania is due to 296delGA mutation, suggesting a founder effect.
23732115 AES binds to PROP1 and represses its expression; PROP1 mutation is a likely cause of combined pituitary hormone deficiency.
23692781 mutations in the PROP-1 gene in cases with CPHD were expected to be more prevalent in our population due to consanguinity, but it was found that these mutations were far less than expected and that it was rare in non-familial cases.
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AA Sequence

MEAERRRQAEKPKKGRVGSNLLPERHPATGTPTTTVDSSAPPCRRLPGAGGGRSRFSPQGGQRGRPHSRR      1 - 70
RHRTTFSPVQLEQLESAFGRNQYPDIWARESLARDTGLSEARIQVWFQNRRAKQRKQERSLLQPLAHLSP     71 - 140
AAFSSFLPESTACPYSYAAPPPPVTCFPHPYSHALPSQPSTGGAFALSHQSEDWYPTLHPAPAGHLPCPP    141 - 210
PPPMLPLSLEPSKSWN                                                          211 - 226
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Text Mined References (61)

PMID Year Title
26812162 2016 All Hormone-Producing Cell Types of the Pituitary Intermediate and Anterior Lobes Derive From Prop1-Expressing Progenitors.
26111865 2015 Novel Mutations in HESX1 and PROP1 Genes in Combined Pituitary Hormone Deficiency.
26059845 2016 Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations.
25581745 2015 The c.301_302delAG PROP1 gene mutation in Romanian patients with multiple pituitary hormone deficiency.
25557026 2015 Molecular screening of a large cohort of Moroccan patients with congenital hypopituitarism.
25500790 2015 Molecular analysis of PROP1, POU1F1, LHX3, and HESX1 in Turkish patients with combined pituitary hormone deficiency: a multicenter study.
25434367 2015 Circulating microRNA profiles and the identification of miR-593 and miR-511 which directly target the PROP1 gene in children with combined pituitary hormone deficiency.
24178788 2014 High prevalence of PROP1 defects in Lithuania: phenotypic findings in an ethnically homogenous cohort of patients with multiple pituitary hormone deficiency.
23732115 2013 A PROP1-binding factor, AES cloned by yeast two-hybrid assay represses PROP1-induced Pit-1 gene expression.
23692781 Frequency of mutations in PROP-1 gene in Turkish children with combined pituitary hormone deficiency.
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