| A novel missense COL9A3 variant in a pedigree with multiple lumbar disc herniation. | A novel missense COL9A3 variant in a pedigree with multiple lumbar disc herniation.
Jiang L, Wang C, Ye Z, Hu Q., Free PMC Article | 01/17/2024 |
| Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome. | Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome.
Rad A, Najafi M, Suri F, Abedini S, Loum S, Karimiani EG, Daftarian N, Murphy D, Doosti M, Moghaddasi A, Ahmadieh H, Sabbaghi H, Rajati M, Hashemi N, Vona B, Schmidts M., Free PMC Article | 04/23/2022 |
| Heterozygous COL9A3 variants cause severe peripheral vitreoretinal degeneration and retinal detachment. | Heterozygous COL9A3 variants cause severe peripheral vitreoretinal degeneration and retinal detachment.
Nash BM, Watson CJG, Hughes E, Hou AL, Loi TH, Bennetts B, Jelovic D, Polkinghorne PJ, Gorbatov M, Grigg JR, Vincent AL, Jamieson RV., Free PMC Article | 01/22/2022 |
| Whole exome sequencing reveals pathogenic variants in MYO3A, MYO15A and COL9A3 and differential frequencies in ancestral alleles in hearing impairment genes among individuals from Cameroon. | Whole exome sequencing reveals pathogenic variants in MYO3A, MYO15A and COL9A3 and differential frequencies in ancestral alleles in hearing impairment genes among individuals from Cameroon.
Wonkam A, Manyisa N, Bope CD, Dandara C, Chimusa ER., Free PMC Article | 10/2/2021 |
| Multiple variants in collagen genes are associated with the susceptibility to lumbar disc herniation in the Chinese population. | Multiple variants in collagen genes are associated with the susceptibility to lumbar disc herniation in the Chinese population.
Yang X, Jia H, Xing W, Li F, Li M, Sun K, Zhu Y. | 06/26/2021 |
| Homozygous type IX collagen variants, COL9A1, COL9A2, and COL9A3, causing recessive Stickler syndrome, expand the disease phenotype. | Homozygous Type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome-Expanding the phenotype.
Nixon TRW, Alexander P, Richards A, McNinch A, Bearcroft PWP, Cobben J, Snead MP. | 08/13/2020 |
| we report the second family with autosomal recessive Stickler syndrome due to homozygosity for a loss-of-function mutation in COL9A3 and further establish the phenotype associated with mutations in this gene | Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation.
Hanson-Kahn A, Li B, Cohn DH, Nickerson DA, Bamshad MJ, University of Washington Center for Mendelian Genomics, Hudgins L., Free PMC Article | 11/2/2019 |
| Study results suggest that the COL9A3 trp3 polymorphism might not be associated with intervertebral disk degeneration. [meta-analysis] | Association of COL9A3 trp3 polymorphism with intervertebral disk degeneration: a meta-analysis.
Huang D, Deng X, Ma K, Wu F, Shi D, Liang H, Chen S, Shao Z., Free PMC Article | 02/2/2019 |
| rs61734651 variant in COL9A3 was not significantly associated with a predisposition to lumbar disc degeneration. | Collagen IX gene polymorphisms and lumbar disc degeneration: a systematic review and meta-analysis.
Wu H, Wang S, Chen W, Zhan X, Xiao Z, Jiang H, Wei Q., Free PMC Article | 09/8/2018 |
| In an Iranian population, we observed a 5.8-fold increase in the odds of degenerative disc disease in males when the Trp3 allele was present | MRI Phenotyping of COL9A2/Trp2 and COL9A3/Trp3 Alleles in Lumbar Disc Disease: A Case-control Study in South-Western Iranian Population Reveals a Significant Trp3-Disease Association in Males.
Bagheri MH, Honarpisheh AP, Yavarian M, Alavi Z, Siegelman J, Valtchinov VI. | 06/3/2017 |
| A novel missense mutation was identified in a family diagnosed with multiple epiphyseal dysplasia. | Novel COL9A3 mutation in a family diagnosed with multiple epiphyseal dysplasia: a case report.
Jeong C, Lee JY, Kim J, Chae H, Park HI, Kim M, Kim OH, Kim P, Lee YK, Jung J., Free PMC Article | 07/25/2015 |
| Here, we describe the first autosomal recessive Stickler family due to loss of function mutations (c.1176_1198del, p.Gln393Cysfs*25) of COL9A3 gene. These findings extend further the role of collagen genes family in the disease pathogenesis. | Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene.
Faletra F, D'Adamo AP, Bruno I, Athanasakis E, Biskup S, Esposito L, Gasparini P. | 04/18/2015 |
| The allelic variants in the collagen IX genes - COL9A2 and COL9A3 have been identified as genetic risk factors for intervertebral disc disease--{review} | The role of polymorphisms of genes encoding collagen IX and XI in lumbar disc disease.
Janeczko Ł, Janeczko M, Chrzanowski R, Zieliński G. | 05/10/2014 |
| The NC2 domain of type IX collagen determines the chain composition but also the chain register of the triple helix. | The NC2 domain of type IX collagen determines the chain register of the triple helix.
Boudko SP, Bächinger HP., Free PMC Article | 03/30/2013 |
| Studies indicate that two SNPs that introduce tryptophan polymorphisms in COL9A2 and COL9A3 are independently linked to an increased risk of lumbar disc disease. | Type IX collagen neo-deposition in degenerative discs of surgical patients whether genotyped plus or minus for COL9 risk alleles.
Zhu Y, Wu JJ, Weis MA, Mirza SK, Eyre DR., Free PMC Article | 03/17/2012 |
| We report an 81% mutation detection rate for pseudoachondroplasia, of which COMP+Col9A3 mutations were more prevalent (61%) than COMP mutations alone (30%). | COMP and Col9A3 mutations and their relationship to the pseudoachondroplasia phenotype.
Jung WW, Balce GC, Cho JW, Jung SC, Hong SJ, Song HR. | 03/12/2011 |
| This study extends the range of gene-mutations that can cause multiple epiphyseal dysplasia-related myopathy. | Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy.
Jackson GC, Marcus-Soekarman D, Stolte-Dijkstra I, Verrips A, Taylor JA, Briggs MD., Free PMC Article | 07/12/2010 |
| Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) | Genetic factors are associated with modic changes in endplates of lumbar vertebral bodies.
Karppinen J, Daavittila I, Solovieva S, Kuisma M, Taimela S, Natri A, Haapea M, Korpelainen R, Niinimäki J, Tervonen O, Ala-Kokko L, Männikkö M. | 05/21/2008 |
| Observational study of genotype prevalence and gene-disease association. (HuGE Navigator) | Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations.
Jakkula E, Mäkitie O, Czarny-Ratajczak M, Jackson GC, Damignani R, Susic M, Briggs MD, Cole WG, Ala-Kokko L. | 03/13/2008 |
| Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) | COL9A3 gene polymorphism and obesity in intervertebral disc degeneration of the lumbar spine: evidence of gene-environment interaction.
Solovieva S, Lohiniva J, Leino-Arjas P, Raininko R, Luoma K, Ala-Kokko L, Riihimäki H. | 03/13/2008 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (9) articlesAssociations of 25 structural, degradative, and inflammatory candidate genes with lumbar disc desiccation, bulging, and height narrowing.
Videman T, Saarela J, Kaprio J, Näkki A, Levälahti E, Gill K, Peltonen L, Battié MC. Occupational and genetic risk factors associated with intervertebral disc disease.
Virtanen IM, Karppinen J, Taimela S, Ott J, Barral S, Kaikkonen K, Heikkilä O, Mutanen P, Noponen N, Männikkö M, Tervonen O, Natri A, Ala-Kokko L. The alpha2 type IX collagen tryptophan polymorphism is associated with the severity of disc degeneration in younger patients with herniated nucleus pulposus of the lumbar spine.
Higashino K, Matsui Y, Yagi S, Takata Y, Goto T, Sakai T, Katoh S, Yasui N. Intervertebral disc degeneration in relation to the COL9A3 and the IL-1ss gene polymorphisms.
Solovieva S, Lohiniva J, Leino-Arjas P, Raininko R, Luoma K, Ala-Kokko L, Riihimäki H. The role of sequence variations within the genes encoding collagen II, IX and XI in non-syndromic, early-onset osteoarthritis.
Jakkula E, Melkoniemi M, Kiviranta I, Lohiniva J, Räinä SS, Perälä M, Warman ML, Ahonen K, Kröger H, Göring HH, Ala-Kokko L. Mutation analysis of COL9A3, a gene highly expressed in the cochlea, in hearing loss patients.
Asamura K, Abe S, Fukuoka H, Nakamura Y, Usami S, Asamura K, Abe S, Fukuoka H, Nakamura Y, Usami S. The role of collagen IX tryptophan polymorphisms in symptomatic intervertebral disc disease in Southern European patients.
Kales SN, Linos A, Chatzis C, Sai Y, Halla M, Nasioulas G, Christiani DC. Radiologic phenotypes in lumbar MR imaging for a gene defect in the COL9A3 gene of type IX collagen.
Karppinen J, Pääkkö E, Paassilta P, Lohiniva J, Kurunlahti M, Tervonen O, Nieminen P, Göring HH, Malmivaara A, Vanharanta H, Ala-Kokko L. Association analysis of single nucleotide polymorphisms in cartilage-specific collagen genes with knee and hip osteoarthritis in the Japanese population.
Ikeda T, Mabuchi A, Fukuda A, Kawakami A, Ryo Y, Yamamoto S, Miyoshi K, Haga N, Hiraoka H, Takatori Y, Kawaguchi H, Nakamura K, Ikegawa S. | 03/13/2008 |
| a fragment of collagen type IX alpha chain is found in 34% of newborns with ureteropelvic junction obstruction, and in 100% of normals. | Non-invasive markers of ureteropelvic junction obstruction.
Decramer S, Bascands JL, Schanstra JP. | 01/21/2010 |
| Both Trp2 and Trp3 allelic products are incorporated into cross-linked fibrillar network of developing human cartilage apparently normally. Any pathological consequences are likely to be long-term and indirect rather than from overt misassembly of matrix. | Matrix deposition of tryptophan-containing allelic variants of type IX collagen in developing human cartilage.
Matsui Y, Wu JJ, Weis MA, Pietka T, Eyre DR. | 01/21/2010 |
| Patients with COL9A3 in-frame deletion of three amino acid residues (G181-P183 del) and missense mutation (D617E) showed moderate progressive bilateral sensorineural hearing impairment in all frequencies. | Mutation analysis of COL9A3, a gene highly expressed in the cochlea, in hearing loss patients.
Asamura K, Abe S, Fukuoka H, Nakamura Y, Usami S, Asamura K, Abe S, Fukuoka H, Nakamura Y, Usami S. | 01/21/2010 |