ReviewNature reviews. Endocrinology2016
Pseudohypoparathyroidism and Gsα-cAMP-linked disorders: current view and open issues.
Review in Nature reviews. Endocrinology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 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.
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Who cites it
54 citing papers in PubMed, 108 citations in OpenAlex.
- Eiken syndrome presenting as pseudohypoparathyroidism due toJCEM case reports · 2026Article
- The association of GNAS defects with pro-inflammatory adipokine levels in pseudohypoparathyroidism type 1.Journal of endocrinological investigation · 2026Article
- Acrodysostosis type 1: mechanisms explaining PRKAR1A mutation mediated dysregulation of cAMP-PKA signalling.Cell communication and signaling : CCS · 2026Review
- Endocrine Disorders of Calcium Signaling in Children: Neuroendocrine Crosstalk and Clinical Implications.Cells · 2026Review
- Late-onset atypical pseudohypoparathyroidism type 1A with intracranial calcification and epilepsy associated with a novelFrontiers in endocrinology · 2026Article
- High Prevalence of Hypercalcitoninemia in a Large Cohort of Adult and Pediatric Patients With PTH Resistance Syndromes.The Journal of clinical endocrinology and metabolism · 2025Article
- Atypical presentation of pseudohypoparathyroidism with absence of mutations in the GNAS gene: a case report.BMC endocrine disorders · 2025Article
- Genotype-Phenotype Correlation of GNAS Gene: Review and Disease Management of a Hotspot Mutation.International journal of molecular sciences · 2024Review
- Vitamin D-dependent Rickets Type 1A Mimicking Pseudohypoparathyroidism in Presence of Active Tuberculosis.JCEM case reports · 2024Article
- Targeted silencing ofFrontiers in endocrinology · 2024Article
- Pseudohypoparathyroidism Type IB with Subclinical Hypothyroidism: a Pedigree Investigation and Literature Review.Diabetes, metabolic syndrome and obesity : targets and therapy · 2024Article
- A novelClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2024Article
- Recombinant growth hormone improves growth and adult height in patients with maternal inactivating GNAS mutations.European journal of endocrinology · 2023Observational
- Homozygous Ser-1 to Pro-1 mutation in parathyroid hormone identified in hypocalcemic patients results in secretion of a biologically inactive pro-hormone.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.Genetics in medicine : official journal of the American College of Medical Genetics · 2023Article
- Review
- GNAS mutation is an unusual cause of primary adrenal insufficiency: a case report.BMC pediatrics · 2022Article
- Different AHO phenotype in a Chinese family with a novel GNAS missense variant: a case report.Italian journal of pediatrics · 2022Article
- Pseudohypoparathyroidism: a diagnosis to consider once a PTH elevation is detected.Acta bio-medica : Atenei Parmensis · 2022Article
- Novel Pathogenetic Variants in PTHLH and TRPS1 Genes Causing Syndromic Brachydactyly.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2022Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pseudohypoparathyroidism exemplifies an unusual form of hormone resistance as the underlying molecular defect is a partial deficiency of the α subunit of the stimulatory G protein (Gsα), a key regulator of the cAMP signalling pathway, rather than of the parathyroid hormone (PTH) receptor itself. Despite the first description of this disorder dating back to 1942, later findings have unveiled complex epigenetic alterations in addition to classic mutations in GNAS underpining the molecular basis of the main subtypes of pseudohypoparathyroidism. Moreover, mutations in PRKAR1A and PDE4D, which encode proteins crucial for Gsα-cAMP-mediated signalling, have been found in patients with acrodysostosis. As acrodysostosis, a disease characterized by skeletal malformations and endocrine disturbances, shares clinical and molecular characteristics with pseudohypoparathyroidism, making a differential diagnosis and providing genetic counselling to patients and families is a challenge for endocrinologists. Accumulating data on the genetic and clinical aspects of this group of diseases highlight the limitation of the current classification system and prompt the need for a new definition as well as for new diagnostic and/or therapeutic algorithms. This Review discusses both the current understanding and future challenges for the clinical and molecular diagnosis, classification and treatment of pseudohypoparathyroidism.
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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.