|
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 |
We report the largest genomic deletion including PROP1 gene associated with CPHD.
|
20395664 |
2010 |
|
Panhypopituitarism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We report a novel mutation in the PROP1 gene in an infant with CPHD and an enlarged pituitary gland.
|
30988269 |
2019 |
|
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 |
Two coexisting heterozygous frameshift mutations in PROP1 are responsible for a different phenotype of combined pituitary hormone deficiency.
|
26608600 |
2016 |
|
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 |
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
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.
|
25434367 |
2015 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to investigate the PROP1 gene in two siblings with CPHD.
|
16918947 |
2006 |
|
Panhypopituitarism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Several mutations are located in a transactivation domain (TAD) of Prop1, and the loss of TAD binding to cofactors is likely the cause of CPHD.
|
23732115 |
2013 |
|
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 |
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 |
Patients with idiopathic CPHD and NPPP, born from consanguineous parents, are the strong candidates for PROP1 mutations.
|
18157385 |
2007 |
|
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
Mutations in the genes encoding pituitary transcription factors (mainly PROP1, POUF1 and HESX1) are responsible for familial combined pituitary hormone deficiency (CPHD) and septo-optic dysplasia (SOD) while only a low percentage of mutations are the cause of sporadic forms.
|
17315526 |
2007 |
|
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 |
Mutations in PROP1 are the most frequent defect detected in patients with combined pituitary hormone deficiency (MIM #262600), characterized by a clinical phenotype of proportionate growth deficit due to impaired production of growth hormone in combination with deficiency of one or more of the additional anterior pituitary hormones.
|
23831233 |
2013 |
|
Panhypopituitarism
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in PROP1 are a frequent cause of familial CPHD.
|
19128366 |
2009 |
|
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 |
In particular, non-random occurrence was revealed for SERPINA1 c.1096G > A (alpha-1 antitrypsin deficiency), C8B c.1282C > T and c.1653G > A (complement component 8B deficiency), ATP7B c.3207C > A (Wilson disease), PROP1 c.301_302delAG (combined pituitary hormone deficiency), CYP21A2 c.844G > T (non-classical form of adrenogenital syndrome), EYS c.1155T > A (retinitis pigmentosa), HADHA c.1528G > C (LCHAD deficiency), SCO2 c.418G > A (cytochrome c oxidase deficiency), OTOA c.2359G > T (sensorineural deafness), C2 c.839_866del (complement component 2 deficiency), ACADVL c.848T > C (VLCAD deficiency), TGM5 c.337G > T (acral peeling skin syndrome) and VWF c.2561 G > A (von Willebrand disease, type 2N).
|
31028847 |
2019 |