Auditory phenotype in Stickler syndrome: results of audiometric analysis in 20 patients.
Gent, Belgium. In Eur Arch Otorhinolaryngol, Feb 2016
Twenty molecularly confirmed Stickler patients (age 10-62 year), of whom sixteen with type 1 Stickler syndrome (COL2A1 mutation) and four with type 2 Stickler syndrome (COL11A1 mutation) underwent an otological questionnaire, clinical examination, pure tone and speech audiometry, tympanometry and otoacoustic emission testing.
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.