The DOI matches its Crossref record; 75 of the 75 references it cites were found in a registry or an index.
Pseudohypoparathyroidism: Diagnosis and Treatment
Abstract
Context: The term pseudohypoparathyroidism (PHP) indicates a group of heterogeneous disorders whose common feature is represented by impaired signaling of various hormones (primarily PTH) that activate cAMP-dependent pathways via Gsα protein. The two main subtypes of PHP, PHP type Ia, and Ib (PHP-Ia, PHP-Ib) are caused by molecular alterations within or upstream of the imprinted GNAS gene, which encodes Gsα and other translated and untranslated products. Evidence acquisition: A PubMed search was used to identify the available studies (main query terms: pseudohypoparathyroidism; Albright hereditary osteodystrophy; GNAS; GNAS1; progressive osseous heteroplasia). The most relevant studies until February 2011 have been included in the review. Evidence synthesis and conclusions: Despite the first description of this disorder dates back to 1942, recent findings indicating complex epigenetic alterations beside classical mutations at the GNAS complex gene, pointed out the limitation of the actual classification of the disease, resulting in incorrect genetic counselling and diagnostic procedures, as well as the gap in our actual knowledge of the pathogenesis of these disorders. This review will focus on PHP type I, in particular its diagnosis, classification, treatment, and underlying molecular alterations.
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Cites
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PTH/PTHrP Receptor in Early Development and Indian Hedgehog—Regulated Bone Growth
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Williams' Textbook of Endocrinology.
(1991) · Annals of Internal Medicine · doi:10.7326/0003-4819-114-9-816_5 · Cited by 1,151
Pseudohypoparathyroidism: defective excretion of 3′,5′-AMP in response to parathyroid hormone
Chase, L. R., Melson, G. L., & Aurbach, G. D. (1969) · Journal of Clinical Investigation · doi:10.1172/jci106149 · Cited by 477
Weinstein, L. S., Yu, S., Warner, D. R., & Liu, J. (2001) · Endocrine Reviews · doi:10.1210/edrv.22.5.0439 · Cited by 420
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Parathyroid hormone: past and present
Potts, J. T. (2005) · Journal of Endocrinology · doi:10.1677/joe.1.06057 · Cited by 327
Parathyroid hormone and parathyroid hormone-related peptide, and their receptors
Gensure, R. C., Gardella, T. J., & Jüppner, H. (2005) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2004.11.069 · Cited by 301
Imprinting of the Gsα gene GNAS1 in the pathogenesis of acromegaly
Hayward, B. E., Barlier, A., Korbonits, M., Grossman, A. B., Jacquet, P., Enjalbert, A., & Bonthron, D. T. (2001) · Journal of Clinical Investigation · doi:10.1172/jci11887 · Cited by 298
Cited by
Léger, J., Olivieri, A., Donaldson, M., Torresani, T., Krude, H., van Vliet, G., Polak, M., Butler, G., & on behalf of ESPE-PES-SLEP-JSPE-APEG-APPES-ISPAE, A. T. C. H. C. C. G. (2014) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2013-1891 · Cited by 569
Léger, J., Olivieri, A., Donaldson, M., Torresani, T., Krude, H., van Vliet, G., Polak, M., Butler, G., & on behalf of ESPE-PES-SLEP-JSPE-APEG-APPES-ISPAE, A. T. C. H. C. C. G. (2014) · Hormone Research in Paediatrics · doi:10.1159/000358198 · Cited by 208
Argyraki, M., Damdimopoulou, P., Chatzimeletiou, K., Grimbizis, G. F., Tarlatzis, B. C., Syrrou, M., & Lambropoulos, A. (2019) · Human Reproduction Update · doi:10.1093/humupd/dmz025 · Cited by 86
Metadata
- Authors
- Mantovani, G.
- Venue
- The Journal of Clinical Endocrinology & Metabolism
- Publisher
- The Endocrine Society
- Published
- 2011-10-01
- Volume
- 96
- Issue
- 10
- Pages
- 3020-3030
- ISSN
- 0021-972X (ISSN-L)
- 1945-7197
- OpenAlex
- W1976089356
- Cited by
- 301
- References
- 75
- FWCI
- 11.51
- Type
- journal article
- Language
- en
- Open access
- closed
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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