Discover Community Create You

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

Genetic basis for resistance to parathyroid hormone.

Hormone research - 1 Jan 2003

Levine Michael A, Germain-Lee Emily, Jan de Beur Suzanne

Abstract excerpt

Pseudohypoparathyroidism (PHP) is associated with biochemical hypoparathyroidism (i.e. hypocalcemia and hyperphosphatemia) due to parathyroid hormone (PTH) resistance rather than to PTH deficiency. Patients with PHP type 1a have a generalized form of hormone resistance plus a constellation of developmental defects termed Albright hereditary osteodystrophy (AHO). Within PHP type 1a families some individuals will...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cyclic AMP
Share to Genomic Imprinting
Share to GTP-Binding Protein alpha Subunits, Gs

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Mutation, Missense

Share to Parathyroid Hormone

Share to Pedigree

Share to Phenotype

Share to Pseudohypoparathyroidism

Source

Identifiers

PMID: 14671404
DOI: 10.1159/000074508

Genes

PTH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic basis for resistance to parathyroid hormone.PMID 14671404Read ↗

Pseudohypoparathyroidism type Ia. Albright hereditary osteodystrophy: a model for research on G protein-coupled receptors and genomic imprinting.Semantic proximity Read ↗

Albright's hereditary osteodystrophy and pseudohypoparathyroidism.Semantic proximity Read ↗

GNAS locus and pseudohypoparathyroidism.Semantic proximity Read ↗

Hormone resistance caused by mutations in G proteins and G protein-coupled receptors.Semantic proximity Read ↗

A novel GNAS mutation inherited from probable maternal mosaicism causes two siblings with pseudohypoparathyroidism type 1A.Semantic proximity Read ↗

Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism.Semantic proximity Read ↗

Evidence of hormone resistance in a pseudo-pseudohypoparathyroidism patient with a novel paternal mutation in GNAS.Semantic proximity Read ↗

Selective resistance to parathyroid hormone caused by a novel uncoupling mutation in the carboxyl terminus of G alpha(s). A cause of pseudohypoparathyroidism type Ib.Semantic proximity Read ↗

Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistance.Semantic proximity Read ↗

Imprinting and skeletal disorders: lessons from pseudohypoparathyroidism and related disorders.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 ↗

GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders.Semantic proximity Read ↗

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