ALLMedicine™ Acrodysostosis Center
Research & Reviews 19 results
https://doi.org/10.1038/s41434-021-00286-2 10.1056/NEJMoa1012717 10.1074/jbc.M115.656553 10.1002/jbmr.2987 10.1038/s41573-019-0012-9 10.1038/s41467-018-07882-8 10.1016/j.omtm.2020.04.010 10.1038/gt.2014.35 10.1016/j.bbapap.2005.08.024 10.1016/j.bpj.2017.04.045 10.1074/jbc.271.28.16526 10.1242/dev.129.12.2977 10.1126/science.273.5275.613 10.1242/dev.127.3.543 10.1359/JBMR.041210 10.1126/science.273.5275.663 10.1101/gad.8.3.277 10.1038/nature01657 10.1038/s41598-016-0028-x 10.1111/j.1749-6632.2009.05251.x 10.1055/s-0032-1304251 10.1073/pnas.95.22.13030 10.1073/pnas.0405091101 10.1097/MNH.0b013e32832c2264 10.1038/mt.2011.22 10.1002/ajmg.a.37365 10.1007/s40265-019-01147-4 10.1681/ASN.2013040398 10.3389/fped.2017.00287
Gene Therapy; Özgür-Günes Y, Le Stunff C et. al.
Oct 3rd, 2021 - Acrodysostosis is a rare skeletal dysplasia caused by loss-of-function mutations in the regulatory subunit of protein kinase A (PRKAR1A). In a knock-in mouse model (PRKAR1Awt/mut) expressing one copy of the recurrent R368X mutation, we tested the ...
American Journal of Medical Genetics. Part A; Nguyen DB, Khirani S et. al.
Apr 29th, 2021 - Sleep-disordered breathing (SDB) is common in patients with skeletal dysplasias. The aim of our study was to analyze SDB and respiratory management in children with rare skeletal dysplasias. We performed a retrospective analysis of patients with s...
BMC Endocrine Disorders; Petraitytė G, Šiaurytė K et. al.
Apr 17th, 2021 - Acrodysostosis is a rare hereditary disorder described as a primary bone dysplasia with or without hormonal resistance. Pathogenic variants in the PRKAR1A and PDE4D genes are known genetic causes of this condition. The latter gene variants are mor...
Foot & Ankle Specialist; Mansur H, Maranho DA
Nov 21st, 2020 - Level V: Case report.
Endocrine Elli FM, Mantovani G
Nov 13th, 2020 - Pseudohypoparathyroidism (PHP), the first known post-receptorial hormone resistance, derives from a partial deficiency of the α subunit of the stimulatory G protein (Gsα), a key component of the PTH/PTHrP signaling pathway. Since its first descrip...