|
Pseudopseudohypoparathyroidism
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We evaluated 67 patients with AHO (49 with PHP1A, 18 with PPHP) with documented mutations in GNAS.
|
29059381 |
2018 |
|
Pseudopseudohypoparathyroidism
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
When located on the paternal allele, the same or similar GNAS mutations are the cause of PPHP.
|
27995443 |
2017 |
|
Pseudopseudohypoparathyroidism
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Molecular diagnostic experience of whole-exome sequencing in adult patients.
|
26633545 |
2016 |
|
Pseudopseudohypoparathyroidism
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Similar to effects other imprinted genes have on early development, we recently observed severe intrauterine growth retardation in newborns, later diagnosed with pseudopseudohypoparathyroidism (PPHP) because of paternal GNAS loss-of-function mutations.
|
25603460 |
2015 |
|
Pseudopseudohypoparathyroidism
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Gsα-coding GNAS mutations that lead to diminished Gsα expression and/or function result in Albright's hereditary osteodystrophy (AHO) with or without hormone resistance, i.e., pseudohypoparathyroidism type-Ia/Ic and pseudo-pseudohypoparathyroidism, respectively.
|
25851935 |
2015 |
|
Pseudopseudohypoparathyroidism
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A positive genotype-phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo-pseudohypoparathyroidism and 33 newly identified mutations in the GNAS gene.
|
25802881 |
2015 |
|
Pseudopseudohypoparathyroidism
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Evidence of hormone resistance in a pseudo-pseudohypoparathyroidism patient with a novel paternal mutation in GNAS.
|
25464124 |
2015 |
|
Pseudopseudohypoparathyroidism
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We investigated clinical manifestations and mutations of the GNAS gene in ethnic Chinese patients with PHP1A or PPHP.
|
24651309 |
2014 |
|
Pseudopseudohypoparathyroidism
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We collected birth parameters (ie, gestational age, weight, length, and head circumference) of patients with either PHP-Ia (n = 29) or PPHP/POH (n = 26) with verified GNAS mutations.
|
23884777 |
2013 |
|
Pseudopseudohypoparathyroidism
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
PHP and pseudopseudohypoparathyroidism (PPHP) are rare disorders resulting from genetic and epigenetic aberrations within or upstream of the GNAS locus.
|
24127307 |
2013 |
|
Pseudopseudohypoparathyroidism
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Endocrine profile and phenotype-(epi)genotype correlation in Spanish patients with pseudohypoparathyroidism.
|
23533243 |
2013 |
|
Pseudopseudohypoparathyroidism
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Pseudohypoparathyroidism type Ia and pseudo-pseudohypoparathyroidism: the growing spectrum of GNAS inactivating mutations.
|
23281139 |
2013 |
|
Pseudopseudohypoparathyroidism
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Pseudopseudohypoparathyroidism (PPHP) patients with an AHO phenotype and no hormone resistance and progressive osseous heteroplasia (POH) cases have inactivating paternally inherited GNAS mutations.
|
22679513 |
2012 |
|
Pseudopseudohypoparathyroidism
|
1.000 |
Biomarker
|
disease |
MGD |
When inherited paternally, GNAS mutations cause only AHO but not hormonal resistance, termed pseudopseudohypoparathyroidism (PPHP).
|
21747923 |
2011 |
|
Pseudopseudohypoparathyroidism
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Six PHP-Ia and one PPHP harboured four different heterozygous mutations within the coding region of GNAS, p.Asp189_Tyr190delinsMetfxX14, p.Val117fsX23, p.Tyr190CysfsX19, and a splicing mutation (c.659 + 1G>A), of which the latter two were novel.
|
21521295 |
2011 |
|
Pseudopseudohypoparathyroidism
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Increased prevalence of carpal tunnel syndrome in albright hereditary osteodystrophy.
|
21525160 |
2011 |
|
Pseudopseudohypoparathyroidism
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous GNAS inactivating mutations are known to induce pseudohypoparathyroidism type 1a when maternally inherited and pseudopseudohypoparathyroidism when paternally inherited.
|
20427508 |
2010 |
|
Pseudopseudohypoparathyroidism
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
PHP-Ia and PPHP are caused by heterozygous inactivating mutations in those exons of GNAS encoding the alpha subunit of the stimulatory guanine nucleotide-binding protein (Gsalpha), and the autosomal dominant form of PHP-Ib (AD-PHP-Ib) is caused by heterozygous mutations disrupting a long-range imprinting control element of GNAS.
|
15711092 |
2005 |
|
Pseudopseudohypoparathyroidism
|
1.000 |
Biomarker
|
disease |
BEFREE |
GNAS1 molecular analysis confirmed the diagnosis of PHP-Ia and PPHP in the mutated patients.
|
12621129 |
2003 |
|
Pseudopseudohypoparathyroidism
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Both the PHPIa and PPHP forms of AHO result from heterozygous deactivating mutations in the GNAS1 gene associated with a 50% reduction in bioactivity of the Gsalpha protein that it encodes.
|
12541184 |
2002 |
|
Pseudopseudohypoparathyroidism
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous inactivating mutations in the GNAS1 exons (20q13.3) that encode the alpha-subunit of the stimulatory G protein (Gsalpha) are found in patients with pseudohypoparathyroidism type Ia (PHP-Ia) and in patients with pseudo-pseudohypoparathyroidism (pPHP).
|
11294659 |
2001 |
|
Pseudopseudohypoparathyroidism
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Different inactivating mutations of the gene GNAS1 encoding Gsalpha lead to a reduced Gsalpha protein activity in patients with AHO and pseudohypoparathyroidism type Ia or without resistance to PTH (pseudopseudohypoparathyroidism).
|
11600516 |
2001 |
|
Pseudopseudohypoparathyroidism
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Interestingly, paternal transmission of GNAS1 mutations leads to the AHO phenotype alone (pseudopseudohypoparathyroidism), while maternal transmission leads to AHO plus resistance to several hormones (e.g., PTH, TSH) that activate G(s) in their target tissues (pseudohypoparathyroidism type IA).
|
11588148 |
2001 |
|
Pseudopseudohypoparathyroidism
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Deficiency of the alpha-subunit of the stimulatory G protein and severe extraskeletal ossification.
|
11092390 |
2000 |
|
Pseudopseudohypoparathyroidism
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Affected members of most AHO kindreds (both those with PPHP and those with PHP Ia) have a partial deficiency of Gs alpha, the alpha-subunit of the G protein that couples receptors to adenylyl cyclase stimulation, and in a number of cases heterozygous loss of function mutations within the Gs alpha gene (GNAS1) have been identified.
|
10487696 |
1999 |