COL11A2


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COL11A2

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Previous studies have demonstrated the selection of susceptibility genes of heterotopic ossification within the susceptible region of AS, including BMP6 , RUNX2 , IHH , and collagen, type XI, alpha 2 ( COL11A2 ) genes.
4] BRCA1, breast cancer 1, early onset; BRCA2, breast cancer 2, early onset; Human genes; COL11A2, collagen, type XI, alpha 2; ATP6V1B1, ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1; SLC26A4, solute carrier family 26 (anion exchanger), member 4; CNGB3, cyclic nucleotide gated channel beta 3.
a) Approach Gene Exon Variant Reason for being not called Positive index cases of 2012 (pool 3) PGM COL11A2 Exon 47 c.
Algunos genes involucrados en la morfogenesis craneofacial son: senales polarizantes (SHH,BP2,BMP4,BMP7; Smad 2-4), factores de crecimiento receptores (EGF,EGFR,TGF- alfa, TGFbeta 1-3,FGF1, FGF2, FGF8), factores de transcripcion (AP2-alfa, DLX 1-6, Gli 2 -3, PITX1, PITX2, PRX1, HOXA2, LRF6, LHX8,PAX9,MSX1,TBX1,TBX22), moleculas de adhesion celular (PBRL1, Conexin 43, E-Cadherina), matriz extracelular (COL2A1, COL11A1, COL11A2, MMP2, MMP3, MMP9, MMP13, MP1-3, fibronectina).
Subsequently, by a candidate gene approach for positional candidates around the marker, an association with a SNP, IVS6-4T>A in COL11A2 (P = 4 x [10.
1999 (20) COL11A2 6p21 Koga, Spine 1996 (9) RUNX2 6p21 Liu, Clin.
2E-11 factor receptor activity BMP8B, CSF1, FCFR1, BMPR2, 1GF2R, PDCFB, TGFBR2, NRP1, CCR2 Biosynthetic process CEL, COL11A2, ACPP, MMP14, 1.
Mutations in the COL11A1, COL11A2 and COL2A1 genes cause Stickler syndrome.
Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene.
Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical and radiological findings in sibs homozygous for premature stop codon mutation in the COL11A2 gene.
Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus.