COL2A1


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AcronymDefinition
COL2A1Collagen, Type II, Alpha1
References in periodicals archive ?
Originally, COL2A1 was considered to be a candidate pathogenic gene because of clinical data.
For instance in early studies ASPN, COMP, FRZB, COL2A1, GDF5 and IL4Ralpha were all shown to be associated with OA but subsequently only GDF5 and ASPN continue to be of interest.
The Stickler syndrome: genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1.
Four additional novel biomarkers were identified with increased serum concentration values in at least 10% of advanced prostate cancer samples compared to controls: CDH7, COL2A1, PGLS, and RPL22L1.
The COL2A1 enhancer turns the gene on only in chondrocytes--cartilage-producing cells--in mouse embryos.
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, los cuales se encuentran en el locus 12q13.
Si alguna de las copias del gen SOX9 esta mutada no se activara la transcripcion del gen COL2A1 de manera que se producira un colageno anormal (Figura 5).
In contrast, collagen Type II alpha 1 ( COL2A1 ) expression was upregulated under static load on day 3, but tended to be downregulated under the control conditions; this difference was statistically significant.