Condition: Pseudohypoparathyroidism, Type Ia


rs137854531 in GNAS gene and Pseudohypoparathyroidism, Type Ia PMID 8702665 1996 Pseudohypoparathyroidism, a novel mutation in the betagamma-contact region of Gsalpha impairs receptor stimulation.

PMID 9159128 1997 Conditional activation defect of a human Gsalpha mutant.

PMID 11600516 2001 Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy.

PMID 9727013 1998 A novel mutation in the switch 3 region of Gsalpha in a patient with Albright hereditary osteodystrophy impairs GDP binding and receptor activation.

PMID 12624854 2003 Analysis of GNAS1 and overlapping transcripts identifies the parental origin of mutations in patients with sporadic Albright hereditary osteodystrophy and reveals a model system in which to observe the effects of splicing mutations on translated and untranslated messenger RNA.

PMID 9328353 1997 A novel mutation adjacent to the switch III domain of G(S alpha) in a patient with pseudohypoparathyroidism.

PMID 11450852 2001 Two mutations of the Gsalpha gene in two Japanese patients with sporadic pseudohypoparathyroidism type Ia.

PMID 7523385 1994 A novel Gs alpha mutant in a patient with Albright hereditary osteodystrophy uncouples cell surface receptors from adenylyl cyclase.

PMID 8388883 1993 Heterogeneous mutations in the gene encoding the alpha-subunit of the stimulatory G protein of adenylyl cyclase in Albright hereditary osteodystrophy.

PMID 15817905 2005 Early manifestation of calcinosis cutis in pseudohypoparathyroidism type Ia associated with a novel mutation in the GNAS gene.

PMID 25802881 2015 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.

PMID 21488135 2011 Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-receptor interaction.

PMID 23533243 2013 Endocrine profile and phenotype-(epi)genotype correlation in Spanish patients with pseudohypoparathyroidism.

PMID 11092390 2000 Deficiency of the alpha-subunit of the stimulatory G protein and severe extraskeletal ossification.

PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

PMID 21525160 2011 Increased prevalence of carpal tunnel syndrome in albright hereditary osteodystrophy.