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About 108 results

ALLMedicine™ Albright's Hereditary Osteodystrophy Center

Research & Reviews  43 results

Novel pathogenetic variants in PTHLH and TRPS1 genes causing syndromic brachydactyly.
https://doi.org/10.1002/jbmr.4490
Journal of Bone and Mineral Research : the Official Journ... Elli FM, Mattinzoli D et. al.

Dec 14th, 2021 - Skeletal disorders, including both isolated and syndromic brachydactyly type E, derive from genetic defects affecting the fine tuning of the network of pathways involved in skeletogenesis and growth-plate development. Alterations of different gene...

Obesity-Associated GNAS Mutations and the Melanocortin Pathway.
https://doi.org/10.1056/NEJMoa2103329
The New England Journal of Medicine; Mendes de Oliveira E, Keogh JM et. al.

Oct 7th, 2021 - GNAS encodes the Gαs (stimulatory G-protein alpha subunit) protein, which mediates G protein-coupled receptor (GPCR) signaling. GNAS mutations cause developmental delay, short stature, and skeletal abnormalities in a syndrome called Albright's her...

Mild progressive osseous heteroplasia overlap syndrome with PTH and TSH resistance appe...
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...

Pseudohypoparathyroidism type 1A
https://rarediseases.info.nih.gov/diseases/7486/pseudohypoparathyroidism-type-1a

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...

Molecular Definition of Pseudohypoparathyroidism Variants.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8118362
The Journal of Clinical Endocrinology and Metabolism; Jüppner H

Feb 3rd, 2021 - 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 differentially...

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