| Autosomal recessive otospondylo-mega-epiphyseal dysplasia: comprehensive clinical review of a pediatric cohort. | Autosomal recessive otospondylo-mega-epiphyseal dysplasia: comprehensive clinical review of a pediatric cohort.
Mutlu H, Elçioğlu N, Kiliç E. | 10/19/2023 |
| COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis. | COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis.
Rebello D, Wohler E, Erfani V, Li G, Aguilera AN, Santiago-Cornier A, Zhao S, Hwang SW, Steiner RD, Zhang TJ, Gurnett CA, Raggio C, Wu N, Sobreira N, Giampietro PF, Ciruna B., | 09/21/2023 |
| Association Between COL5a1, COL11a1, and COL11a2 Gene Variations and Rotator Cuff Tendinopathy in Young Athletes. | Association Between COL5a1, COL11a1, and COL11a2 Gene Variations and Rotator Cuff Tendinopathy in Young Athletes.
Alakhdar Y, Cook J, Gallego D, Querol F, Chulvi-Medrano I, Alberola A, Hernández-Sánchez S. | 09/6/2023 |
| The Association of Variants within Types V and XI Collagen Genes with Knee Joint Laxity Measurements. | The Association of Variants within Types V and XI Collagen Genes with Knee Joint Laxity Measurements.
Beckley S, Dey R, Stinton S, van der Merwe W, Branch T, September AV, Posthumus M, Collins M., Free PMC Article | 01/11/2023 |
| Exon-Trapping Assay Improves Clinical Interpretation of COL11A1 and COL11A2 Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia. | Exon-Trapping Assay Improves Clinical Interpretation of COL11A1 and COL11A2 Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia.
Micale L, Morlino S, Schirizzi A, Agolini E, Nardella G, Fusco C, Castellana S, Guarnieri V, Villa R, Bedeschi MF, Grammatico P, Novelli A, Castori M., Free PMC Article | 07/24/2021 |
| Genetic variant of COL11A2 gene is functionally associated with developmental dysplasia of the hip in Chinese Han population. | Genetic variant of COL11A2 gene is functionally associated with developmental dysplasia of the hip in Chinese Han population.
Xu R, Jiang X, Lu J, Wang K, Sun Y, Zhang Y., Free PMC Article | 02/27/2021 |
| Mutation in COL11A2 gene is associated with Stargardt disease as well as Stickler's Syndrome . | The uncommon occurrence of two common inherited disorders in a single patient: a mini case series.
Zuazo F, Dumitrescu AV. | 04/13/2019 |
| rs986522(C) significantly increased the risk of lumbar disc degeneration in Chinese Han females. | Genetic variants in COL11A2 of lumbar disk degeneration among Chinese Han population.
Yang X, Jia H, Xing W, Li F, Li M, Sun K, Zhu Y., Free PMC Article | 04/13/2019 |
| that the COL11A2 gene, which has previously been associated with familial osteoarthritis, may play a role in pain sensitization after the development of osteoarthritis | Single Nucleotide Polymorphism in the COL11A2 Gene Associated with Heat Pain Sensitivity in Knee Osteoarthritis.
Ho KWD, Wallace MR, Sibille KT, Bartley EJ, Cruz-Almeida Y, Glover TL, King CD, Goodin BR, Addison A, Edberg JC, Staud R, Bradley LA, Fillingim RB., Free PMC Article | 09/8/2018 |
| Missense mutations in COL6A1, COL11A2, FGFR1, and BMP2 genetically predispose patients to ossification of posterior longitudinal ligaments. | Targeted next-generation sequencing reveals multiple deleterious variants in OPLL-associated genes.
Chen X, Guo J, Cai T, Zhang F, Pan S, Zhang L, Wang S, Zhou F, Diao Y, Zhao Y, Chen Z, Liu X, Chen Z, Liu Z, Sun Y, Du J., Free PMC Article | 04/7/2018 |
| Up to now, merely 7 loci have been linked to mid-frequency hearing loss. Only four genetic mid-frequency deafness genes, namely, DFNA10 (EYA4), DFNA8/12 (TECTA), DFNA13 (COL11A2), DFNA44 (CCDC50), have been reported to date. [review] | Research progress in pathogenic genes of hereditary non-syndromic mid-frequency deafness.
Xia W, Liu F, Ma D. | 04/22/2017 |
| Data indicate that Ala37Ser is the missense mutation located in the NC4 domain of the collagen type XI COL11A2 protein. | Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.
Chakchouk I, Grati M, Bademci G, Bensaid M, Ma Q, Chakroun A, Foster J 2nd, Yan D, Duman D, Diaz-Horta O, Ghorbel A, Mittal R, Farooq A, Tekin M, Masmoudi S, Liu XZ., Free PMC Article | 10/31/2015 |
| Expanded spectrum of mutations in the COL11A1 and COL11A2 genes in Stickler syndrome. | Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing.
Acke FR, Malfait F, Vanakker OM, Steyaert W, De Leeneer K, Mortier G, Dhooge I, De Paepe A, De Leenheer EM, Coucke PJ. | 10/17/2015 |
| A novel mutation in COL11A2 was found in a Japanese family with non-ocular Stickler syndrome. | Non-ocular Stickler syndrome with a novel mutation in COL11A2 diagnosed by massively parallel sequencing in Japanese hearing loss patients.
Iwasa Y, Moteki H, Hattori M, Sato R, Nishio SY, Takumi Y, Usami S. | 08/22/2015 |
| results show that this gene interacts collagen x1 encoded genes to modulate the risk for AT | Association of type XI collagen genes with chronic Achilles tendinopathy in independent populations from South Africa and Australia.
Hay M, Patricios J, Collins R, Branfield A, Cook J, Handley CJ, September AV, Posthumus M, Collins M. | 12/28/2013 |
| Hearing impairment in non-ocular Stickler syndrome is characterized by non-progressive hearing loss, present since childhood, and mostly mild to moderate in severity. Heterozygote mutations in COL11A2 were present in two pedigrees. | Audiometric characteristics of two Dutch families with non-ocular Stickler syndrome (COL11A2).
van Beelen E, Leijendeckers JM, Huygen PL, Admiraal RJ, Hoefsloot LH, Lichtenbelt KD, Stöbe L, Pennings RJ, Leuwer R, Snik AF, Kunst HP. | 01/12/2013 |
| These findings thus demonstrate that fibrochondrogenesis can result from either recessively or dominantly inherited mutations in COL11A2 | Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2.
Tompson SW, Faqeih EA, Ala-Kokko L, Hecht JT, Miki R, Funari T, Funari VA, Nevarez L, Krakow D, Cohn DH., Free PMC Article | 07/21/2012 |
| The findings of a significant association between lip and/or palate clefts and two markers in the WNT3 and COL11A2 genes were the most consistent and were observed in all groups analysed and stratified. | Association studies of candidate genes and cleft lip and palate taking into consideration geographical origin.
Lace B, Kempa I, Piekuse L, Grinfelde I, Klovins J, Pliss L, Krumina A, Vieira AR. | 05/12/2012 |
| four loci showed the strongest associations with RA (P<0.005): ZNF391, OR2H1, C6orf26-RDBP and HLA-DPB1-COL11A2. | HLA-DPB1-COL11A2 and three additional xMHC loci are independently associated with RA in a UK cohort.
Orozco G, Barton A, Eyre S, Ding B, Worthington J, Ke X, Thomson W. | 10/8/2011 |
| A novel homozygous COL11A2 deletion causes a C-terminal protein truncation with incomplete mRNA decay in a Turkish patient. | A novel homozygous COL11A2 deletion causes a C-terminal protein truncation with incomplete mRNA decay in a Turkish patient.
Kayserili H, Wollnik B, Güven G, Emiroğlu MU, Başerer N, Uyguner ZO. | 05/21/2011 |
| individuals carrying the C allele at the COL11A2 SNP site, rs2076311, had a lower risk of Kawasaki disease and had a lower probability of developing coronary artery lesions | Association of COL11A2 polymorphism with susceptibility to Kawasaki disease and development of coronary artery lesions.
Sheu JJ, Lin YJ, Chang JS, Wan L, Chen SY, Huang YC, Chan C, Chiu IW, Tsai FJ. | 04/2/2011 |
| implication of IRF6, COL2A1, and WNT3 in occurrence of nonsyndromic cleft palate (NSCP); likely variation in cartilage collagen II and XI genes, IRF6, and Wnt and FGF signal pathway genes contributes susceptibility to NSCP in Northeast Europe populations | Genetic variants in COL2A1, COL11A2, and IRF6 contribute risk to nonsyndromic cleft palate.
Nikopensius T, Jagomägi T, Krjutskov K, Tammekivi V, Saag M, Prane I, Piekuse L, Akota I, Barkane B, Krumina A, Ambrozaityte L, Matuleviciene A, Kucinskiene ZA, Lace B, Kucinskas V, Metspalu A. | 01/8/2011 |
| Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S, DREAM investigators., Free PMC Article | 09/15/2010 |
| diagnosis ofOtospondylomegaepiphyseal dysplasia was diagnosed by identifying a mutation in the COL11A2 gene that encodes the pre-pro-alpha2(XI) chain of type XI collagen that is involved in type II collagen fibrillogenesis. | Early-onset osteoarthritis due to otospondylomegaepiphyseal dysplasia in a family with a novel splicing mutation of the COL11A2 gene.
Avcin T, Makitie O, Susic M, Miller S, Thorne C, Tenenbaum J, Laxer RM, Cole WG. | 01/21/2010 |
| This study is the first to show that collagen XI is present in the Golgi apparatus of normal human colon goblet cells and localizes collagen XI in both normal and malignant tissue. | Immunohistochemical localization of collagen type XI alpha1 and alpha2 chains in human colon tissue.
Bowen KB, Reimers AP, Luman S, Kronz JD, Fyffe WE, Oxford JT., Free PMC Article | 01/21/2010 |