| Relationship of COL9A1 and SOX9 Genes with Genetic Susceptibility of Postmenopausal Osteoporosis. | Relationship of COL9A1 and SOX9 Genes with Genetic Susceptibility of Postmenopausal Osteoporosis.
Liu H, Zhao H, Lin H, Li Z, Xue H, Zhang Y, Lu J. | 06/12/2021 |
| Gene Environment Interactions Between the COL9A1 Gene and Maternal Drinking of Alcohol Contribute to the Risk of Congenital Talipes Equinovarus. | Gene Environment Interactions Between the COL9A1 Gene and Maternal Drinking of Alcohol Contribute to the Risk of Congenital Talipes Equinovarus.
Zhao J, Cai F, Liu P, Wei J, Chen Q. | 01/30/2021 |
| 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 |
| The present study emphasizes the importance of exome-wide copy number variation analysis in molecular diagnosis and provides supporting evidence to associate COL9A1 with autosomal recessive non-syndromic HL. | Exome-wide copy number variation analysis identifies a COL9A1 in frame deletion that is associated with hearing loss.
Hofrichter MAH, Doll J, Habibi H, Enayati S, Vahidi Mehrjardi MY, Müller T, Dittrich M, Haaf T, Vona B. | 02/15/2020 |
| Two tagSNPs, rs28647489 in FAT1 gene and rs550675 in COL9A1 gene, were significantly associated with the risk of oral malignancy. | Variants in FAT1 and COL9A1 genes in male population with or without substance use to assess the risk factors for oral malignancy.
Chung CM, Hung CC, Lee CH, Lee CP, Lee KW, Chen MK, Yeh KT, Ko YC., Free PMC Article | 11/2/2019 |
| Whole-genome sequencing reveals possible role of deleterious mutation of COL9A1 in ossification of the posterior longitudinal ligament of the thoracic spine in the Chinese population. | Whole-genome sequencing reveals novel genes in ossification of the posterior longitudinal ligament of the thoracic spine in the Chinese population.
Liang C, Wang P, Liu X, Yang C, Ma Y, Yong L, Zhu B, Liu X, Liu Z., Free PMC Article | 04/13/2019 |
| the COL9A1 rs35470562 variant may contribute to congenital talipes equinovarus susceptibility in the Chinese population examined. | Role of COL9A1 genetic polymorphisms in development of congenital talipes equinovarus in a Chinese population.
Zhao XL, Wang YJ, Wu YL, Han WH. | 03/4/2017 |
| We observed a significant association between rs6910140 of COL9A1 and KBD, suggesting a role of COL9A1 in the development of KBD. | COL9A1 gene polymorphism is associated with Kashin-Beck disease in a northwest Chinese Han population.
Shi X, Zhang F, Lv A, Wen Y, Guo X., Free PMC Article | 10/17/2015 |
| The study demonstrated that hypermethylation is associated with down-regulation of COL9A1 expression in osteoarthritic (OA) cartilage and highlights the pivotal role of epigenetics in OA. | Association of reduced type IX collagen gene expression in human osteoarthritic chondrocytes with epigenetic silencing by DNA hypermethylation.
Imagawa K, de Andrés MC, Hashimoto K, Itoi E, Otero M, Roach HI, Goldring MB, Oreffo RO., Free PMC Article | 04/4/2015 |
| 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 |
| Type IX collagen interacts with fibronectin providing an important molecular bridge in articular cartilage | Type IX collagen interacts with fibronectin providing an important molecular bridge in articular cartilage.
Parsons P, Gilbert SJ, Vaughan-Thomas A, Sorrell DA, Notman R, Bishop M, Hayes AJ, Mason DJ, Duance VC., Free PMC Article | 12/10/2011 |
| A second, novel mutation was identified in COL9A1, causing autosomal recessive Stickler syndrome together with the previously described nucleotide change in two separate families. | Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene.
Nikopoulos K, Schrauwen I, Simon M, Collin RW, Veckeneer M, Keymolen K, Van Camp G, Cremers FP, van den Born LI. | 09/10/2011 |
| COL9A1 protein is highly expressed in patients with idiopathic congenital talipes equinovarus (ICTEV) and rs1135056, which is located in the coding region of COL9A1 gene, may be associated with the pathogenesis of ICTEV. | [Expression of COL9A1 gene and its polymorphism in children with idiopathic congenital talipes equinovarus].
Liu LY, Jin CL, Jiang L, Lin CK. | 07/30/2011 |
| NC2 domain of collagen IX provides chain selection and heterotrimerization | The NC2 domain of collagen IX provides chain selection and heterotrimerization.
Boudko SP, Zientek KD, Vance J, Hacker JL, Engel J, Bächinger HP., Free PMC Article | 09/20/2010 |
| 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 |
| 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 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (5) articlesGene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD, ASCOT investigators, NORDIL investigators, BRIGHT Consortium. Associations 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. [Analysis of association between COL9A1 gene and idiopathic congenital talipes equinovarus].
Liu LY, Jin CL, Cao DH, Zhao N, Lin CK, Sun KL. 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. Evidence for a role of the genomic region of the gene encoding for the alpha1 chain of type IX collagen (COL9A1) in hip osteoarthritis: A population-based study.
Alizadeh BZ, Njajou OT, Bijkerk C, Meulenbelt I, Wildt SC, Hofman A, Pols HA, Slagboom PE, Duijn CM. | 03/13/2008 |
| 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 |
| the matrilin-3 A-domain appears to bind exclusively to the COL3 domain of type IX collagen and this binding is abolished in the presence of a disease causing mutation in type IX collagen | Structural and functional characterization of recombinant matrilin-3 A-domain and implications for human genetic bone diseases.
Fresquet M, Jowitt TA, Ylöstalo J, Coffey P, Meadows RS, Ala-Kokko L, Thornton DJ, Briggs MD., Free PMC Article | 01/21/2010 |
| analysis of the crystal structure of the N-terminal NC4 domain of collagen IX | Crystal structure of the N-terminal NC4 domain of collagen IX, a zinc binding member of the laminin-neurexin-sex hormone binding globulin (LNS) domain family.
Leppänen VM, Tossavainen H, Permi P, Lehtiö L, Rönnholm G, Goldman A, Kilpelaïnen I, Pihlajamaa T. | 01/21/2010 |
| the amino-terminal NC4 domain of human collagen IX interacts with glycosaminoglycans and cartilage oligomeric matrix protein | Characterization of recombinant amino-terminal NC4 domain of human collagen IX: interaction with glycosaminoglycans and cartilage oligomeric matrix protein.
Pihlajamaa T, Lankinen H, Ylöstalo J, Valmu L, Jäälinoja J, Zaucke F, Spitznagel L, Gösling S, Puustinen A, Mörgelin M, Peränen J, Maurer P, Ala-Kokko L, Kilpelaïnen I. | 01/21/2010 |
| COMP, type IX collagen and MATN3 play important roles in matrix assembly | COMP mutations, chondrocyte function and cartilage matrix.
Hecht JT, Hayes E, Haynes R, Cole WG. | 01/21/2010 |
| A search of the microRNA database revealed a highly conserved target sequence for miR-9 immediately preceding the overlapping polyadenylation signals in the novel 3' UTR of COL9A1, suggesting its role in posttranscriptional regulation of COL9A1. | Characterization of an abundant COL9A1 transcript in the cochlea with a novel 3' UTR: Expression studies and detection of miRNA target sequence.
Sivakumaran TA, Resendes BL, Robertson NG, Giersch AB, Morton CC., Free PMC Article | 01/21/2010 |
| COL9A1 is the fourth identified gene that can cause Stickler syndrome. | A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene.
Van Camp G, Snoeckx RL, Hilgert N, van den Ende J, Fukuoka H, Wagatsuma M, Suzuki H, Smets RM, Vanhoenacker F, Declau F, Van de Heyning P, Usami S., Free PMC Article | 01/21/2010 |