COL2A1


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COL2A1

Notation for the collagen type II α-1 gene.
References in periodicals archive ?
Avascular necrosis of the femoral head due to a novel C propeptide mutation in COL2A1.
Clinical evaluation and COL2A1 gene analysis in 21 Brazilian families with Stickler syndrome: identification of novel mutations, further genotype/phenotype correlation, and its implications for the diagnosis.
Only 1 marker, COL2A1, was also on our list; however, 2 other markers, CXCL3 and C3, belonged to the same protein family as entries on our list.
a) CCL19 CDH7 COL2A1 COL9A2 COMP Gleason score C N C N C N C N C N 6 1 2 -- 1 3 3 1 2 0 0 6 2 1 1 3 3 1 2 1 1 1 6 3 1 2 1 3 1 3 1 1 0 6 2 2 1 1 3 2 1 1 1 1 6 1 1 0 1 1 1 1 1 0 0 6 1 1 0 1 2 1 2 1 0 0 6 1 2 1 1 1 1 2 2 0 0 6 1 1 2 1 2 1 2 1 1 0 7 2 1 1 2 3 2 2 1 1 0 7 2 2 1 1 3 2 2 2 1 1 7 3 2 1 1 3 2 2 1 1 1 7 2 2 2 2 3 2 3 2 2 2 7 3 1 1 1 3 1 1 1 1 1 7 1 1 1 2 3 2 1 1 1 1 7 2 1 1 1 3 1 2 2 2 1 8 2 1 2 1 2 1 1 1 1 2 8 2 1 3 1 3 2 2 2 2 1 9 2 2 1 2 3 1 2 2 1 2 10 1 1 2 1 3 1 2 1 2 1 10 2 1 0 -- 3 -- 1 -- 1 1 C>N, n 9 5 16 (b) 8 9 (b) N>C, n 2 7 0 1 0 P 0.
Although a decrease in COL2A1 expression in the nucleus was observed in the control tissues cultured for 3 days compared with the fresh tissues, its expression was stable by 14 days, and the tissue structure was maintained during culturing.
La entidad fue reconocida y definida en 1966 por Spranger y Wiedemann en un grupo de pacientes con talla baja, considerado dentro del grupo de las condrodisplasias asociadas a defectos en los genes COL2A1 el cual se encuentra en el locus 12q13.
Identification of mutations and polymorphisms in the COL2A1 gene by temporal temperature gradient gel electrophoresis [Abstract].
The use of TTGE to screen for COL2A1 mutations in Kniest dysplasia, another autosomal dominant disorder, was presented recently as an abstract (9).