|
Panhypopituitarism
|
0.500 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
|
Panhypopituitarism
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|
|
Panhypopituitarism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
These results demonstrate a novel type of Prop-1 gene mutation as one of the causes of CPHD in Russian patients.
|
11081182 |
1998 |
|
Panhypopituitarism
|
0.500 |
Biomarker
|
disease |
BEFREE |
Our results identify a major cause of CPHD in humans and suggest a direct or indirect role for PROP1 in the ontogenesis of pituitary gonadotropes, as well as somatotropes, lactotropes and caudomedial thyrotropes.
|
9462743 |
1998 |
|
Panhypopituitarism
|
0.500 |
Biomarker
|
disease |
BEFREE |
The prophet of Pit-1 gene (PROP1), a novel pituitary-specific homeodomain factor, has been proved to be one of the causative genes for combined pituitary hormone deficiency (CPHD).
|
10549300 |
1999 |
|
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 |
Biomarker
|
disease |
BEFREE |
These data show that PROP1 mutations can result in panhypopituitarism, the most severe form of AP deficiency, in which the production of all hormones is compromised and support a role for PROP1 in the maintenance and/or differentiation of all five hormone-secreting cell types.
|
11134108 |
2000 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the PIT-1 and PROP-1 transcription factors are responsible for CPHD in some patients with normally positioned posterior pituitaries.
|
10946868 |
2000 |
|
Panhypopituitarism
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Mutations of the pituitary transcription factor Prop-1, which is responsible for the syndrome of Ames dwarfism in mice, are being increasingly recognized as a cause of combined pituitary hormone deficiency in humans, although ACTH deficiency has been described only once.
|
10902805 |
2000 |
|
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 |
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 |
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 |
Prophet of Pit-1 (PROP-1), one of the pituitary specific homeodomain transcription factors, is involved in the differentiation of the anterior pituitary cells (somatotrophs, lactotrophs, thyrotrophs, and gonadotrophs), and PROP-1 gene mutations may interfere with the development of these cells, resulting in CPHD.
|
12519826 |
2003 |
|
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 |
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 |
Biomarker
|
disease |
BEFREE |
This study analyses the POU1F1 and PROP1 genes in a cohort of Australian children with combined pituitary hormone deficiency (CPHD) and correlates results with patient phenotype.
|
12780757 |
2003 |
|
Panhypopituitarism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Pit-1 gene and Prop-1 gene mutations and deletions have been reported being responsible for CPHD.
|
15192287 |
2004 |
|
Panhypopituitarism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We screened a cohort of sporadic (n = 189) and familial (n = 44) patients with hypopituitarism (153 CPHD and 80 isolated hormone deficiencies) for mutations within the coding sequence of PROP1.
|
15963055 |
2005 |
|
Panhypopituitarism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in POUF-1, PROP1 and HESX1 are rare causes of CPHD and SOD, respectively, in children from the West Midlands.
|
15670191 |
2005 |
|
Panhypopituitarism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Waxing and waning of a pituitary mass in a young woman with combined pituitary hormone deficiency (CPHD) due to a PROP-1 mutation.
|
16703408 |
2006 |
|
Panhypopituitarism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This is the first report of a mutation in the initiation codon of the PROP1 gene and this further expands the spectrum of known mutations responsible for CPHD.
|
16984240 |
2006 |
|
Panhypopituitarism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, these two siblings of different sexes with CPHD carrying the 301-302delAG mutation in the Prop1 gene presented a variable phenotype characterized by GH, TSH, LH and FSH deficiency.
|
17162714 |
2006 |
|
Panhypopituitarism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Inactivating PROP1 gene alterations are responsible for over 50% of familial combined pituitary hormone deficiency cases.
|
16794371 |
2006 |
|
Panhypopituitarism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to investigate the PROP1 gene in two siblings with CPHD.
|
16918947 |
2006 |