A pilot study of gene testing of genetic bone dysplasia using targeted next-generation sequencing.
Shanghai, China. In J Hum Genet, 17 Oct 2015
Mutations of COL2A1 gene and PHEX gene were found in nine patients, respectively (9/44=20%), followed by COMP gene in 8 (18%), TRPV4 gene in 4 (9%), FBN1 gene in 4 (9%), COL1A1 gene in 3 (6%) and COL11A1, TRAPPC2, MATN3, ARSE, TRPS1, SMARCAL1, ENPP1 gene mutations in one patient each (2% each).
Persistent Notochord in a Fetus with COL2A1 Mutation.
Rochester, United States. In Case Rep Obstet Gynecol, Dec 2014
Multiple anomalies including micromelia, poor mineralization of the vertebrae, and a persistent notochord were identified on second trimester ultrasound in a fetus with a COL2A1 mutation.
Alternative splicing and retinal degeneration.
Baltimore, United States. In Clin Genet, 2013
Mutations in alternatively spliced retina-specific exons of the widely expressed RPGR and COL2A1 genes lead primarily to X-linked RP and ocular variants of Stickler syndrome, respectively.
Calcification of multipotent prostate tumor endothelium.
Boston, United States. In Cancer Cell, 2008
Chondrogenic differentiation was accompanied by an upregulation of cartilage-specific col2a1 and sox9, whereas osteocalcin and the metastasis marker osteopontin were upregulated during osteogenic differentiation.