ReviewJournal of endocrinological investigation2017
Pseudohypoparathyroidism: one gene, several syndromes.
Review in Journal of endocrinological investigation, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 65 citations in OpenAlex.
- Endocrine Disorders of Calcium Signaling in Children: Neuroendocrine Crosstalk and Clinical Implications.Cells · 2026Review
- Pseudohypoparathyroidism leading to bilateral hip fracture: A case report.Radiology case reports · 2024Article
- Genotype-Phenotype Correlation of GNAS Gene: Review and Disease Management of a Hotspot Mutation.International journal of molecular sciences · 2024Review
- C-Cell Hyperplasia and Cystic Papillary Thyroid Carcinoma in a Patient with Type 1B Pseudohypoparathyroidism and Hypercalcitoninaemia: Case Report and Review of the Literature.Journal of clinical medicine · 2023Review
- Review
- Fahr syndrome discovered in adulthood revealing a rareClinical case reports · 2022Article
- Clinical and genetic analysis of pseudohypoparathyroidism complicated by hypokalemia: a case report and review of the literature.BMC endocrine disorders · 2022Review
- Evaluating the variety of GNAS inactivation disorders and their clinical manifestations in 11 Chinese children.BMC endocrine disorders · 2022Article
- Trends in the Contribution of Genetic Susceptibility Loci to Hyperuricemia and Gout and Associated Novel Mechanisms.Frontiers in cell and developmental biology · 2022Review
- An intricate case of sporadic pseudohypoparathyroidism type 1B with a review of literature.Archives of endocrinology and metabolism · 2021Review
- Selective pharmacological inhibition of the sodium-dependent phosphate cotransporter NPT2a promotes phosphate excretion.The Journal of clinical investigation · 2020Article
- Shortened Fingers and Toes: GNAS Abnormalities are Not the Only Cause.Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association · 2020Article
- Article
- Review
- Management of pseudohypoparathyroidism.Current opinion in pediatrics · 2019Review
- A Heterozygous Splice-Site Mutation in PTHLH Causes Autosomal Dominant Shortening of Metacarpals and Metatarsals.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2019Article
- 2q37 Deletions in Patients With an Albright Hereditary Osteodystrophy Phenotype and PTH Resistance.Frontiers in endocrinology · 2019Article
- Unrecognized Pseudohypoparathyroidism Type 1A as a Cause of Hypocalcemia and Seizures in a 64-Year-Old Woman.Case reports in endocrinology · 2019Article
- Clinical aspects of the phosphate transporters NaPi-IIa and NaPi-IIb: mutations and disease associations.Pflugers Archiv : European journal of physiology · 2019Review
- Glucose Homeostasis and Energy Balance in Children With Pseudohypoparathyroidism.The Journal of clinical endocrinology and metabolism · 2018Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pseudohypoparathyroidism (PHP) and pseudopseudohypoparathyroidism (PPHP) are caused by mutations and/or epigenetic changes at the complex GNAS locus on chromosome 20q13.3 that undergoes parent-specific methylation changes at several sites. GNAS encodes the alpha-subunit of the stimulatory G protein (Gsα) and several splice variants thereof. Heterozygous inactivating mutations involving the maternal GNAS exons 1-13 cause PHP type Ia (PHP1A). Because of much reduced paternal Gsα expression in certain tissues, such as the proximal renal tubules, thyroid, and pituitary, there is little or no Gsα protein in the presence of maternal GNAS mutations, thus leading to PTH-resistant hypocalcemia and hyperphosphatemia. When located on the paternal allele, the same or similar GNAS mutations are the cause of PPHP. Besides biochemical abnormalities, patients affected by PHP1A show developmental abnormalities, referred to as Albrights hereditary osteodystrophy (AHO). Some, but not all of these AHO features are encountered also in patients affected by PPHP, who typically show no laboratory abnormalities. Autosomal dominant PHP type Ib (AD-PHP1B) is caused by heterozygous maternal deletions within GNAS or STX16, which are associated with loss-of-methylation (LOM) at exon A/B alone or at all maternally methylated GNAS exons. LOM at exon A/B and the resulting biallelic expression of A/B transcripts reduces Gsα expression, thus leading to hormonal resistance. Epigenetic changes at all differentially methylated GNAS regions are also observed in sporadic PHP1B, the most frequent disease variant, which remains unresolved at the molecular level, except for rare cases with paternal uniparental isodisomy or heterodisomy of chromosome 20q (patUPD20q).
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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.