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Items: 1 to 20 of 69

1.

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.

Mol Pain. 2017 Jan-Dec;13:1744806917724259. doi: 10.1177/1744806917724259.

2.

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.

Ann Otol Rhinol Laryngol. 2015 May;124 Suppl 1:111S-7S. doi: 10.1177/0003489415575044. Epub 2015 Mar 16.

PMID:
25780254
3.

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.

Mol Genet Genomics. 2015 Aug;290(4):1327-34. doi: 10.1007/s00438-015-0995-9. Epub 2015 Jan 30.

4.

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.

Hear Res. 2012 Sep;291(1-2):15-23. doi: 10.1016/j.heares.2012.07.001. Epub 2012 Jul 14.

PMID:
22796475
5.

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.

Am J Med Genet A. 2012 Feb;158A(2):309-14. doi: 10.1002/ajmg.a.34406. Epub 2012 Jan 13.

6.

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.

Am J Med Genet A. 2011 Jan;155A(1):180-5. doi: 10.1002/ajmg.a.33780.

PMID:
21204229
7.

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.

Int J Immunogenet. 2010 Dec;37(6):487-92. doi: 10.1111/j.1744-313X.2010.00952.x.

PMID:
20618517
8.

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.

J Rheumatol. 2008 May;35(5):920-6. Epub 2008 Mar 15.

PMID:
18381781
9.

COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED).

Harel T, Rabinowitz R, Hendler N, Galil A, Flusser H, Chemke J, Gradstein L, Lifshitz T, Ofir R, Elbedour K, Birk OS.

Am J Med Genet A. 2005 Jan 1;132A(1):33-5.

PMID:
15558753
10.

Functional impact of human collagen alpha2(XI) gene polymorphism in pathogenesis of ossification of the posterior longitudinal ligament of the spine.

Maeda S, Ishidou Y, Koga H, Taketomi E, Ikari K, Komiya S, Takeda J, Sakou T, Inoue I.

J Bone Miner Res. 2001 May;16(5):948-57.

11.

Gender-specific haplotype association of collagen alpha2 (XI) gene in ossification of the posterior longitudinal ligament of the spine.

Maeda S, Koga H, Matsunaga S, Numasawa T, Ikari K, Furushima K, Harata S, Takeda J, Sakou T, Komiya S, Inoue I.

J Hum Genet. 2001;46(1):1-4.

PMID:
11289713
12.

Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome).

Pihlajamaa T, Prockop DJ, Faber J, Winterpacht A, Zabel B, Giedion A, Wiesbauer P, Spranger J, Ala-Kokko L.

Am J Med Genet. 1998 Nov 2;80(2):115-20.

PMID:
9805126
13.

Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen.

Sirko-Osadsa DA, Murray MA, Scott JA, Lavery MA, Warman ML, Robin NH.

J Pediatr. 1998 Feb;132(2):368-71.

PMID:
9506662
15.

The human alpha 2(XI) collagen (COL11A2) chain. Molecular cloning of cDNA and genomic DNA reveals characteristics of a fibrillar collagen with differences in genomic organization.

Kimura T, Cheah KS, Chan SD, Lui VC, Mattei MG, van der Rest M, Ono K, Solomon E, Ninomiya Y, Olsen BR.

J Biol Chem. 1989 Aug 15;264(23):13910-6.

16.

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.

Mol Genet Metab. 2014 Nov;113(3):230-5. doi: 10.1016/j.ymgme.2014.09.001. Epub 2014 Sep 8.

PMID:
25240749
17.

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.

Genes Immun. 2011 Apr;12(3):169-75. doi: 10.1038/gene.2010.57. Epub 2011 Feb 3.

PMID:
21293383
18.

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.

J Histochem Cytochem. 2008 Mar;56(3):275-83. Epub 2007 Nov 26.

19.

Structural basis of the collagen-binding mode of discoidin domain receptor 2.

Ichikawa O, Osawa M, Nishida N, Goshima N, Nomura N, Shimada I.

EMBO J. 2007 Sep 19;26(18):4168-76. Epub 2007 Aug 16.

20.

Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus.

Chen W, Kahrizi K, Meyer NC, Riazalhosseini Y, Van Camp G, Najmabadi H, Smith RJ.

J Med Genet. 2005 Oct;42(10):e61. Epub 2005 Jul 20.

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