|
Panhypopituitarism
|
0.500 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
|
Panhypopituitarism
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|
|
Panhypopituitarism
|
0.500 |
Biomarker
|
disease |
BEFREE |
80 index cases [54 with isolated growth hormone deficiency (IGHD), 26 with combined pituitary hormone deficiency (CPHD)] were screened for molecular defects in GH1 (including LCR-GH1), GHRHR, GHSR, GHRH, PROP1, POU1F1, HESX1, LHX3, LHX4 and SOX3.
|
25557026 |
2015 |
|
Panhypopituitarism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Combined pituitary hormone deficiency caused by a novel mutation of a highly conserved residue (F88S) in the homeodomain of PROP-1.
|
10946881 |
2000 |
|
Panhypopituitarism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Combined pituitary hormone deficiency (CPHD) can be caused by mutation of the pituitary transcription factors POU1F1 or PROP1.
|
12812307 |
2002 |
|
Panhypopituitarism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Combined pituitary hormone deficiency and PROP-1 mutation in two siblings: a distinct MR imaging pattern of pituitary enlargement.
|
17698542 |
2007 |
|
Panhypopituitarism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Combined pituitary hormone deficiency due to gross deletions in the POU1F1 (PIT-1) and PROP1 genes.
|
28356564 |
2017 |
|
Panhypopituitarism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
PROP1 gene mutations appear to be frequently responsible for CPHD, particularly in Middle and Eastern Europe and the Americas, but few cases have been reported in Japan.
|
16759034 |
2006 |
|
Panhypopituitarism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
PROP1 and POU1F: Recessive mutations within the pituitary-specific transcription factor Prophet of Pit1, or PROP1, are associated with CPHD (GH, prolactin [PRL] and TSH deficiency with additional LH and FSH deficiency).
|
18174732 |
2007 |
|
Panhypopituitarism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
PROP-1 gene mutations have been reported as a cause of combined pituitary hormone deficiency.
|
23624138 |
2013 |
|
Panhypopituitarism
|
0.500 |
Biomarker
|
disease |
BEFREE |
PROP1 mutations are a prevalent cause of congenital CPHD with OPP, and therefore, PROP1 sequencing must be the first step of molecular investigation in patients with CPHD and OPP, especially in populations with a high frequency of PROP1 mutations.
|
28734020 |
2017 |
|
Panhypopituitarism
|
0.500 |
Biomarker
|
disease |
BEFREE |
A novel type of pituitary-specific transcription factor, Prophet of Pit-1 (Prop-1) gene (PROP1), expresses in just early embryonic stage in mouse and closely related as a causative gene in combined pituitary hormone deficiency.
|
10404841 |
1999 |
|
Panhypopituitarism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A small previously reported deletion in PROP1 c.301_302delAG was detected in a separate patient with CPHD, in heterozygous state.
|
26111865 |
2015 |
|
Panhypopituitarism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
As the most common gene alterations responsible for CPHD are within either the PROP-1- or the POU1F1- (PIT-1)-gene these two genes were further studied.
|
12932747 |
2003 |
|
Panhypopituitarism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Because both patients have the same PROP-1 mutations and an identical pattern of combined pituitary hormone deficiency, we suggest that early pituitary enlargement may be the typical course in such patients in whom pituitary surgery is not indicated.
|
11549674 |
2001 |
|
Panhypopituitarism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Cellular determination in the anterior pituitary gland: PIT-1 and PROP-1 mutations as causes of human combined pituitary hormone deficiency.
|
12717343 |
2003 |
|
Panhypopituitarism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Central hypocortisolism as part of combined pituitary hormone deficiency due to mutations of PROP-1 gene.
|
11022176 |
2000 |
|
Panhypopituitarism
|
0.500 |
Biomarker
|
disease |
BEFREE |
Clinical follow-up and molecular analysis of PROP1 in two adult brothers with CPHD, born from consanguineous parents, and not treated until late adulthood.
|
17526949 |
2006 |
|
Panhypopituitarism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Complete deletion in PROP1 gene was the most common mutation encountered in patients with CPHD.
|
25500790 |
2015 |
|
Panhypopituitarism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Defects of the PROP1 gene are the most prevalent genetic cause of combined pituitary hormone deficiency.
|
22024773 |
2011 |
|
Panhypopituitarism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Direct DNA sequencing of all coding exons of the pituitary transcription factor 1 (PIT1) and prophet of PIT1 (PROP1) genes failed to detect disease-causing mutations, suggesting that these genes were not involved in the development of CPHD in our patient.
|
18296909 |
2008 |
|
Panhypopituitarism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Early diagnosis of panhypopituitarism due to PROP1 mutation is essential for successful treatment; however, our case report shows that carefully titrated GH treatment and sex hormone substitution, although initiated in adulthood, enable restoration of physiological growth and sexual development in a hormonally infantile adult woman with a PROP1 mutation.
|
29180983 |
2017 |
|
Panhypopituitarism
|
0.500 |
Biomarker
|
disease |
BEFREE |
For this type of pathology we propose the term 'cystic hyperplasia of the intermediate pituitary lobe' and suggest PROP1 gene assessment in patients with CPHD in order to avoid unnecessary neurosurgical interventions.
|
19774847 |
2009 |
|
Panhypopituitarism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations.
|
26059845 |
2016 |
|
Panhypopituitarism
|
0.500 |
Biomarker
|
disease |
BEFREE |
Identification of Novel PROP1 and POU1F1 Mutations in Patients with Combined Pituitary Hormone Deficiency.
|
27756091 |
2016 |