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Autosomal Recessive Stickler Syndrome.
Nixon TRW, Richards AJ, Martin H, Alexander P, Snead MP. Nixon TRW, et al. Genes (Basel). 2022 Jun 24;13(7):1135. doi: 10.3390/genes13071135. Genes (Basel). 2022. PMID: 35885918 Free PMC article. Review.
Usually inherited in a dominant fashion due to heterozygous pathogenic variants in the collagen genes COL2A1 and COL11A1, it can rarely be inherited in a recessive fashion from variants in COL9A1, COL9A2, and COL9A3, COL11A1, as well as the non-collagen genes LRP2, LOXL3 a …
Usually inherited in a dominant fashion due to heterozygous pathogenic variants in the collagen genes COL2A1 and COL11A1, it can rarely be i …
Structure of the human type XIX collagen (COL19A1) gene, which suggests it has arisen from an ancestor gene of the FACIT family.
Khaleduzzaman M, Sumiyoshi H, Ueki Y, Inoguchi K, Ninomiya Y, Yoshioka H. Khaleduzzaman M, et al. Genomics. 1997 Oct 15;45(2):304-12. doi: 10.1006/geno.1997.4921. Genomics. 1997. PMID: 9344653
Previously, COL19A1 was mapped to human chromosome 6q12-q14, where COL9A1 is also located. Likewise, the present work shows that the mouse Col19a1 gene is located on mouse chromosome 1, region A3, where Col9a1 has also been mapped. Taken together, the data suggest t …
Previously, COL19A1 was mapped to human chromosome 6q12-q14, where COL9A1 is also located. Likewise, the present work shows that the …
Type IX collagen is crucial for normal hearing.
Asamura K, Abe S, Imamura Y, Aszodi A, Suzuki N, Hashimoto S, Takumi Y, Hayashi T, Fässler R, Nakamura Y, Usami S. Asamura K, et al. Neuroscience. 2005;132(2):493-500. doi: 10.1016/j.neuroscience.2005.01.013. Neuroscience. 2005. PMID: 15802199
cDNA microarray analysis indicated that COL9A1 and COL9A3 are highly expressed in the human inner ear, suggesting that type IX collagen has a crucial functional role in the inner ear. ...Immunocytochemical analysis also revealed that type IX collagen is distributed in the …
cDNA microarray analysis indicated that COL9A1 and COL9A3 are highly expressed in the human inner ear, suggesting that type IX collag …