| We identified two candidate mutations in COL1A2 and MATN1, which might be affected by the main known mutation in B3GALT6. Our finding replicated a previously identified mutation in KIF22 to be potentially associated with spondyloepimetaphyseal dysplasia with joint laxity. We also show that our identified candidate mutation genes, COL1A2, MATN1 and KIF22, are in a direct biological interaction with B3GALT6. | Detecting genetic modifiers of spondyloepimetaphyseal dysplasia with joint laxity in the Caucasian Afrikaner community.
Chimusa ER, Beighton P, Kumuthini J, Ramesar RS. | 07/6/2019 |
| polymorphisms associated with mandibular retrognathism | Relationship between matrilin-1 gene polymorphisms and mandibular retrognathism.
Balkhande PB, Lakkakula BVKS, Chitharanjan AB. | 02/17/2018 |
| Matrilin-1 is an inhibitor of neovascularization | Matrilin-1 is an inhibitor of neovascularization.
Foradori MJ, Chen Q, Fernandez CA, Harper J, Li X, Tsang PC, Langer R, Moses MA., Free PMC Article | 12/20/2014 |
| this meta-analysis found an overall significant association of rs1149048 polymorphism with risk of AIS, especially in Asian population. | The association of rs1149048 polymorphism in matrilin-1(MATN1) gene with adolescent idiopathic scoliosis susceptibility: a meta-analysis.
Zhang H, Zhao S, Zhao Z, Tang L, Guo Q, Liu S, Chen L. | 12/6/2014 |
| no significant difference in single nucleotide polymorphism between adolescent idiopathic scoliosis cases and controls | Single-nucleotide polymorphism in Turkish patients with adolescent idiopathic scoliosis: curve progression is not related with MATN-1, LCT C/T-13910, and VDR BsmI.
Yilmaz H, Zateri C, Uludag A, Bakar C, Kosar S, Ozdemir O. | 09/29/2012 |
| The A allele of single nucleotide polymorphism rs1065755 in the MATN1 gene is associated with adolescent idiopathic scoliosis. | Associations between matrilin-1 gene polymorphisms and adolescent idiopathic scoliosis curve patterns in a Korean population.
Bae JW, Cho CH, Min WK, Kim UK. | 07/14/2012 |
| we concluded that MATN1 SNP is not associated with either adolescent idiopathic scoliosis predisposition or curve severity in Japanese. | Lack of association between adolescent idiopathic scoliosis and previously reported single nucleotide polymorphisms in MATN1, MTNR1B, TPH1, and IGF1 in a Japanese population.
Takahashi Y, Matsumoto M, Karasugi T, Watanabe K, Chiba K, Kawakami N, Tsuji T, Uno K, Suzuki T, Ito M, Sudo H, Minami S, Kotani T, Kono K, Yanagida H, Taneichi H, Takahashi A, Toyama Y, Ikegawa S. | 07/30/2011 |
| There is an association between matrilin-1 levels and curve progression in adolescent idiopathic scoliosis. | [Decreased circulating matrilin-1 levels in adolescent idiopathic scoliosis].
Wang B, Chen ZJ, Qiu Y, Liu WJ. | 07/9/2011 |
| Genotype GG of matrilin-1 gene is indicative of less bracing effectiveness in adolescent idiopathic scoliosis. | [Association between matrilin-1 gene polymorphism and bracing effectiveness in adolescent idiopathic scoliosis girls].
Yu Y, Chen ZJ, Qiu Y, Zhang JJ, Liu WJ. | 07/9/2011 |
| Matrilin-1 A-domains have a role in cartilage ECM assembly | Structural and functional investigations of Matrilin-1 A-domains reveal insights into their role in cartilage ECM assembly.
Fresquet M, Jowitt TA, Stephen LA, Ylöstalo J, Briggs MD., Free PMC Article | 11/27/2010 |
| Genotyping results showed Matrilin-1 polymorphism haplotype TGC (ht4; 158T, 7987G, and 8572C alleles) had pronounced risk effect for mandibular prognathism compared with controls. | Polymorphisms in the Matrilin-1 gene and risk of mandibular prognathism in Koreans.
Jang JY, Park EK, Ryoo HM, Shin HI, Kim TH, Jang JS, Park HS, Choi JY, Kwon TG, Jang JY, Park EK, Ryoo HM, Shin HI, Kim TH, Jang JS, Park HS, Choi JY, Kwon TG. | 10/30/2010 |
| The tagSNP rs1149048 polymorphism in the MATN1 promoter region is associated with both susceptibility and disease severity in adolescent idiopathic scoliosis. | [Association between polymorphism of Matrilin-1 gene (MATN1) with susceptibility to adolescent idiopathic scoliosis].
Chen ZJ, Qiu Y, Yu Y, Wang B, Zhu ZZ, Chen ZJ, Qiu Y, Yu Y, Wang B, Zhu ZZ. | 10/23/2010 |
| the tagSNP rs1149048 polymorphism in the MATN1 promoter region was associated with both susceptibility and disease progression in adolescent idiopathic scoliosis . | Promoter polymorphism of matrilin-1 gene predisposes to adolescent idiopathic scoliosis in a Chinese population.
Chen Z, Tang NL, Cao X, Qiao D, Yi L, Cheng JC, Qiu Y, Chen Z, Tang NL, Cao X, Qiao D, Yi L, Cheng JC, Qiu Y., Free PMC Articles: PMC2986210, PMC2986210 | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (6) articlesPolymorphisms in the Matrilin-1 gene and risk of mandibular prognathism in Koreans.
Jang JY, Park EK, Ryoo HM, Shin HI, Kim TH, Jang JS, Park HS, Choi JY, Kwon TG, Jang JY, Park EK, Ryoo HM, Shin HI, Kim TH, Jang JS, Park HS, Choi JY, Kwon TG. [Association between polymorphism of Matrilin-1 gene (MATN1) with susceptibility to adolescent idiopathic scoliosis].
Chen ZJ, Qiu Y, Yu Y, Wang B, Zhu ZZ, Chen ZJ, Qiu Y, Yu Y, Wang B, Zhu ZZ. Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging.
Wheeler HE, Metter EJ, Tanaka T, Absher D, Higgins J, Zahn JM, Wilhelmy J, Davis RW, Singleton A, Myers RM, Ferrucci L, Kim SK. Promoter polymorphism of matrilin-1 gene predisposes to adolescent idiopathic scoliosis in a Chinese population.
Chen Z, Tang NL, Cao X, Qiao D, Yi L, Cheng JC, Qiu Y, Chen Z, Tang NL, Cao X, Qiao D, Yi L, Cheng JC, Qiu Y. Evidence of a linkage between matrilin-1 gene (MATN1) and idiopathic scoliosis.
Montanaro L, Parisini P, Greggi T, Di Silvestre M, Campoccia D, Rizzi S, Arciola CR. Association analysis of genotypic frequencies of matrilin-1 gene in patients with osteoarthritis.
Strusberg I, Sembaj A, Tabares S, Strusberg AM, del Castillo I, Villamar M, Barral JM. | 03/13/2008 |
| Pseudoachondroplasia is associated with mutations in the cartilage oligomatrix protein gene. | Mesomelic dwarfism in pseudoachondroplasia.
Song HR, Li QW, Oh CW, Lee KS, Koo SK, Jung SC. | 01/21/2010 |