A novel ACVR1 mutation in the glycine/serine-rich domain found in the most benign case of a fibrodysplasia ossificans progressiva variant reported to date-Reference-Cited by-同舟云学术

A novel ACVR1 mutation in the glycine/serine-rich domain found in the most benign case of a fibrodysplasia ossificans progressiva variant reported to date

Published:2011-03 Issue:3 Volume:48 Page:654-658
ISSN:8756-3282
Container-title:Bone
language:en
Short-container-title:Bone

Author:

Gregson Celia L.,Hollingworth Peter,Williams Martin,Petrie Kirsten A.,Bullock Alex N.,Brown Matthew A.,Tobias Jon H.,Triffitt James T.

Publisher

Elsevier BV

Subject

Histology,Physiology,Endocrinology, Diabetes and Metabolism

Reference24 articles.

1. A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva;Shore;Nat Genet,2006

2. Fibrodysplasia ossificans progressiva. The clinical features and natural history of 34 patients;Connor;J Bone Joint Surg Br,1982

3. De novo 617 G-A nucleotide mutation in the ACVR1 gene in a Taiwanese patient with fibrodysplasia ossificans progressiva;Lin;J Hum Genet,2006

4. The ACVR1 617 G>A mutation is also recurrent in three Japanese patients with fibrodysplasia ossificans progressiva;Nakajima;J Hum Genet,2007

5. ACVR1 gene mutation in sporadic Korean patients with fibrodysplasia ossificans progressiva;Lee;J Korean Med Sci,2009

Cited by 52 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A blocking monoclonal antibody reveals dimerization of intracellular domains of ALK2 associated with genetic disorders;Nature Communications;2023-05-25

2. Multi-omics therapeutic perspective on ACVR1 gene: from genetic alterations to potential targeting;Briefings in Functional Genomics;2022-08-25

3. Protocol paper: a multi-center, double-blinded, randomized, 6-month, placebo-controlled study followed by 12-month open label extension to evaluate the safety and efficacy of Saracatinib in Fibrodysplasia Ossificans Progressiva (STOPFOP);BMC Musculoskeletal Disorders;2022-06-01

4. Retinoid Agonists in the Targeting of Heterotopic Ossification;Cells;2021-11-19

5. Molecular Genetics of Fibrodysplasia Ossificans Progressiva;eLS;2021-06-30