ALLMedicine™ Pseudohypoparathyroidism Center
Research & Reviews 169 results
The Journal of Clinical Endocrinology and Metabolism; Kiuchi Z, Reyes M et. al.
Sep 4th, 2021 - Maternally inherited STX16 deletions that cause loss-of-methylation at GNAS exon A/B and thereby reduce Gsα expression are the most frequent cause of autosomal dominant pseudohypoparathyroidism type 1B (AD-PHP1B). Early identification of these dis...
https://doi.org/10.1007/s12020-021-02821-y 10.1038/s41574-018-0042-0 10.1002/ajmg.a.32346 10.1530/EJE-16-0107 10.1038/nrendo.2016.52 10.1056/NEJMoa011262 10.1530/EJE-20-0625 10.2147/TACG.S51064 10.1016/j.bone.2017.09.002 10.1210/jc.2009-1451 10.1016/j.bone.2013.06.015 10.1016/j.bone.2006.12.058
Endocrine Ozaki K, Mituboshi A et. al.
Jul 14th, 2021 - Progressive osseous heteroplasia (POH), a genetic disorder, is associated with Albright's hereditary osteodystrophy (AHO), pseudohypoparathyroidism, and primary osteoma cutis and has common features of superficial ossification and GNAS-inactivatin...
The Journal of Clinical Endocrinology and Metabolism; Danzig J, Li D et. al.
Jun 23rd, 2021 - Patients with pseudohypoparathyroidism type 1b (PHP1b) show disordered imprinting of the maternal GNAS allele or paternal uniparental disomy (UPD). Genetic deletions in STX16 or in upstream exons of GNAS are present in many familial but not sporad...
Clinical Endocrinology; Duan X, Yang Y et. al.
May 8th, 2021 - Bone responsiveness to parathyroid hormone (PTH) in different subtypes of pseudohypoparathyroidism type 1 (PHP1) remains controversial. We aimed to investigate this phenomenon using bone turnover markers (BTMs) in a large cohort of PHP1 patients. ...
Apr 12th, 2021 - Pseudohypoparathyroidism type 1A (PHP1A) is a type of pseudohypoparathyroidism. Pseudohypoparathyroidism occurs when your body is unable to respond to parathyroid hormone, a hormone that controls the levels of calcium, phosphorous, and vitamin D i...
Drugs 7 results see all →
News 1 results
Jan 14th, 2016 - On initial presentation, exclusion of other diseases that result in a similar "bright bone" appearance on radiography is important. The causes of diffuse osteosclerosis include hypervitaminosis D, hypoparathyroidism, myelofibrosis, Paget disease, ...