ReviewHuman mutation2015
GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders.
Review in Human mutation, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 65 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
65 citing papers in PubMed, 124 citations in OpenAlex.
- Distinct Clinical and Pathological Features of Melorheostosis Associated With Somatic MAP2K1 Mutations.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2019Trial
- Pattern of height and weight development in a large cohort of underage Chinese pseudohypoparathyroidism patients from a single center.Endocrine connections · 2026Article
- Endocrine Disorders of Calcium Signaling in Children: Neuroendocrine Crosstalk and Clinical Implications.Cells · 2026Review
- Familial investigation of two cases of pseudohypoparathyroidism.Frontiers in endocrinology · 2026Article
- From hypercalcemia to the diagnosis of pseudohypoparathyroidism type 1b: a case report.Frontiers in endocrinology · 2026Article
- Giant ischial osteochondroma causing ischiofemoral impingement and sciatic nerve compression in a pediatric patient with Albright's hereditary osteodystrophy.Radiology case reports · 2025Article
- Dominant Gα mutations in human disease: unifying mechanisms and treatment strategies.EMBO molecular medicine · 2025Review
- The Molecular Biology of Placental Transport of Calcium to the Human Foetus.International journal of molecular sciences · 2025Review
- Article
- The Intricacies of Renal Phosphate Reabsorption-An Overview.International journal of molecular sciences · 2024Review
- Coexistence of meningioma and craniofacial fibrous dysplasia: a case series of clinicopathological study and literature review.Orphanet journal of rare diseases · 2024Review
- Pseudohypoparathyroidism: complex disease variants with unfortunate names.Journal of molecular endocrinology · 2024Review
- Pseudohypoparathyroidism Type IB with Subclinical Hypothyroidism: a Pedigree Investigation and Literature Review.Diabetes, metabolic syndrome and obesity : targets and therapy · 2024Article
- A Case of Pseudohypoparathyroidism Misdiagnosed as Idiopathic Epilepsy for 5 Years: Clinical Analysis and Follow-up Outcomes.The Journal of international medical research · 2023Article
- Rare Case of Pseudohypoparathyroidism With Normocalcemia Because of a Novel GNAS Mutation.JCEM case reports · 2023Article
- Whole-genome sequencing revealed a novel long-range deletion mutation spanning GNAS in familial pseudohypoparathyroidism.Molecular genetics & genomic medicine · 2023Article
- One half-century of advances in the evaluation and management of disorders of bone and mineral metabolism in children and adolescents.Journal of pediatric endocrinology & metabolism : JPEM · 2023Review
- Infant With Pseudohypoparathyroidism Type 1a, Misdiagnosed as Congenital Hypothyroidism.Medical archives (Sarajevo, Bosnia and Herzegovina) · 2023Review
- Article
- Review
5 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
Abstract
Pseudohypoparathyroidism type 1a (PHP1a) is characterized by hypocalcaemia and hyperphosphatemia due to parathyroid hormone resistance, in association with the features of Albright's hereditary osteodystrophy (AHO). PHP1a is caused by maternally inherited inactivating mutations of Gs-alpha, which is encoded by a complex imprinted locus termed GNAS. Paternally inherited mutations can lead either to pseudopseudohypoparathyroidism (PPHP) characterized by AHO alone, or to progressive osseous heteroplasia (POH), characterized by severe heterotopic ossification. The clinical aspects and molecular genetics of PHP1a and its related disorders are reviewed together with the 343 kindreds with Gs-alpha germline mutations reported so far in the literature. These 343 (176 different) mutations are scattered throughout the 13 exons that encode Gs-alpha and consist of 44.9% frameshift, 28.0% missense, 14.0% nonsense, and 9.0% splice-site mutations, 3.2% in-frame deletions or insertions, and 0.9% whole or partial gene deletions. Frameshift and other highly disruptive mutations were more frequent in the reported 37 POH kindreds than in PHP1a/PPHP kindreds (97.3% vs. 68.7%, P < 0.0001). This mutation update and respective genotype-phenotype data may be of use for diagnostic and research purposes and contribute to a better understanding of these complex disorders.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.