Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Prevalence of three mutations in the Gs alpha gene among 24 families with pseudohypoparathyroidism type Ia.

Biochemical and biophysical research communications - 30 Nov 1992

Lin C K, Hakakha M J, Nakamoto J M, Englund A T, Brickman A S, Scott M L, Van Dop C

Abstract excerpt

Pseudohypoparathyroidism type Ia (PHP-Ia), an inherited multi-hormone resistance syndrome, is associated with deficient cellular activity of the alpha-subunit of the guanine nucleotide-binding protein (Gs alpha) that stimulates adenylyl cyclase. We determined prevalence of three recently described mutations in exons 1 and 10 of the Gs alpha gene among 24 unrelated patients with PHP-Ia. Restriction analysis was...

Topics

Adenylyl Cyclases
Base Sequence
Ethnicity
Exons
GTP-Binding Proteins
Humans
Macromolecular Substances
Molecular Sequence Data
Mutation
Oligodeoxyribonucleotides
Oligonucleotides, Antisense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pseudohypoparathyroidism

Restriction Mapping

Source

Identifiers

PMID: 1449489
DOI: 10.1016/0006-291x(92)91564-7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1449489-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Prevalence of three mutations in the Gs alpha gene among 24 families with pseudohypoparathyroidism type Ia.PMID 1449489Read ↗

Genetics of pseudohypoparathyroidism types Ia and Ic.Semantic proximity Read ↗

Pseudohypoparathyroidism: a multitude of mutations in the stimulatory G protein alpha subunit (Gsalpha).Semantic proximity Read ↗

Two mutations of the Gsalpha gene in two Japanese patients with sporadic pseudohypoparathyroidism type Ia.Semantic proximity Read ↗

Pseudohypoparathyroidism type Ia and pseudo-pseudohypoparathyroidism: the growing spectrum of GNAS inactivating mutations.Semantic proximity Read ↗

Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gs{alpha} coding mutations and GNAS imprinting defects.Semantic proximity Read ↗

A Novel GNAS Mutation in a Patient with Ia Pseudohypoparathyroidism (iPPSD2) Phenotype.Semantic proximity Read ↗

A 4-base pair deletion mutation of Gs alpha gene in a Japanese patient with pseudohypoparathyroidism.Semantic proximity Read ↗

Mutations in the Gs alpha gene causing hormone resistance.Semantic proximity Read ↗

Intragenic GNAS deletion involving exon A/B in pseudohypoparathyroidism type 1A resulting in an apparent loss of exon A/B methylation: potential for misdiagnosis of pseudohypoparathyroidism type 1B.Semantic proximity Read ↗

G protein mutations in endocrine diseases.Semantic proximity Read ↗

Genetic Evidence Linking the Promoter Region and 5'-UTR Deletion of GNAS with Pseudohypoparathyroidism Type 1CSemantic proximity Read ↗

Gs(alpha) mutations and imprinting defects in human disease.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.