Collagen, type XI, alpha 1 (redirect from COL11A1)
alpha-1(XI) chain is a protein that in humans is encoded by the COL11A1 gene. The COL11A1 gene encodes one of the two alpha chains of type XI collagen,...
8 KB (1,082 words) - 22:53, 2 December 2023
appearance in the types of Stickler syndrome associated with the COL2A1 and COL11A1 genes. As a result, regular appointments to a specialist ophthalmologist...
11 KB (1,285 words) - 19:56, 23 August 2024
at a young age. Both syndromes where correlated with mutations in the COL11A1 gene. Diagnosis is made based on features as well as by the very early...
9 KB (1,067 words) - 21:18, 15 September 2023
features such as protruding eyes and a flat nasal bridge. Mutations in the COL11A1, COL11A2, and COL2A1 genes cause collagenopathy, types II and XI. These...
3 KB (413 words) - 05:18, 29 July 2022
mineralizing cartilage COL10A1 Schmid metaphyseal dysplasia XI Cartilage COL11A1, COL11A2 Collagenopathy, types II and XI XII FACIT collagen, interacts...
69 KB (7,621 words) - 11:15, 7 October 2024
genes are known to cause this syndrome: COL2A1 (75% of Stickler cases), COL11A1 (also Marshall syndrome), COL11A2 (non-ocular Stickler) and COL9A1 (recessive...
4 KB (361 words) - 18:30, 29 June 2023
000-50,000 Cohen syndrome COH1 1:7,800,000 Collagenopathy, types II and XI COL11A1, COL11A2, COL2A1 Congenital insensitivity to pain with anhidrosis (CIPA)...
42 KB (983 words) - 18:14, 6 October 2024
CHD5 (1p36) CLIC4 (1p36) CLSPN (1p34) CMPK: UMP-CMP kinase COL16A1 (1p35) COL11A1: collagen, type XI, alpha 1 CPT2: carnitine palmitoyltransferase II CRYZ:...
46 KB (3,290 words) - 20:16, 17 August 2024
CNTNAP3B, CNTNAP4, CNTNAP5), some collagens (COL5A1, COL5A3, COL9A1, COL11A1, COL11A2, COL12A1, COL14A1, COL15A1, COL16A1, COL18A1, COL19A1, COL20A1...
31 KB (3,371 words) - 18:35, 28 September 2024
Q14055 3367 COL9A3 HGNC:2219 Q14050 3368 COL10A1 HGNC:2185 Q03692 3369 COL11A1 HGNC:2186 P12107 3370 COL11A2 HGNC:2187 P13942 3371 COL12A1 HGNC:2188 Q99715...
277 KB (17 words) - 18:34, 6 October 2024
UAE fibrochondrogenesis patients expands the phenotype and reveals two COL11A1 homozygous null mutations". Clinical Genetics. 82 (2): 147–156. doi:10...
6 KB (591 words) - 13:59, 14 April 2024
Yang S, Jiang Y, Hou J (November 2019). "Microarray‑based analysis of COL11A1 and TWIST1 as important differentially‑expressed pathogenic genes between...
20 KB (1,630 words) - 09:44, 11 August 2024
Maroteaux–Lamy syndrome, several forms; 253200; ARSB Marshall syndrome; 154780; COL11A1 Martsolf syndrome; 212720; RAB3GAP2 MASA syndrome; 303350; L1CAM MASS syndrome;...
234 KB (18,877 words) - 15:43, 9 May 2024