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Items: 1 to 20 of 324

1.

Targeted next‑generation sequencing identifies two novel COL2A1 gene mutations in Stickler syndrome with bilateral retinal detachment.

Huang X, Lin Y, Chen C, Zhu Y, Gao H, Li T, Liu B, Lyu C, Huang Y, Wu Q, Li H, Jin C, Liang X, Lu L.

Int J Mol Med. 2018 Oct;42(4):1819-1826. doi: 10.3892/ijmm.2018.3752. Epub 2018 Jul 4.

2.

COL2A1 mutation (c.3508G>A) leads to avascular necrosis of the femoral head in a Chinese family: A case report.

Liu F, Xiong Z, Liu Q, Hu J, Li W, Zhang N.

Mol Med Rep. 2018 Jul;18(1):254-260. doi: 10.3892/mmr.2018.8984. Epub 2018 May 7.

3.

Impact of Arginine to Cysteine Mutations in Collagen II on Protein Secretion and Cell Survival.

Chakkalakal SA, Heilig J, Baumann U, Paulsson M, Zaucke F.

Int J Mol Sci. 2018 Feb 11;19(2). pii: E541. doi: 10.3390/ijms19020541.

4.

Recurrent c.G1636A (p.G546S) mutation of COL2A1 in a Chinese family with skeletal dysplasia and different metaphyseal changes: a case report.

Chen J, Ma X, Zhou Y, Li G, Guo Q.

BMC Pediatr. 2017 Jul 24;17(1):175. doi: 10.1186/s12887-017-0930-9.

5.

Reduced penetrance in a large Caucasian pedigree with Stickler syndrome.

Tompson SW, Johnson C, Abbott D, Bakall B, Soler V, Yanovitch TL, Whisenhunt KN, Klemm T, Rozen S, Stone EM, Johnson M, Young TL.

Ophthalmic Genet. 2017 Jan-Feb;38(1):43-50. doi: 10.1080/13816810.2016.1275018. Epub 2017 Jan 17.

PMID:
28095098
6.

Genome-wide association study identifies COL2A1 locus involved in the hand development failure of Kashin-Beck disease.

Hao J, Wang W, Wen Y, Xiao X, He A, Wu C, Wang S, Guo X, Zhang F.

Sci Rep. 2017 Jan 6;7:40020. doi: 10.1038/srep40020.

7.

Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies.

Machol K, Jain M, Almannai M, Orand T, Lu JT, Tran A, Chen Y, Schlesinger A, Gibbs R, Bonafe L, Campos-Xavier AB, Unger S, Superti-Furga A, Lee BH, Campeau PM, Burrage LC.

Am J Med Genet A. 2017 Mar;173(3):733-739. doi: 10.1002/ajmg.a.38059. Epub 2016 Nov 26.

8.

Deep Intronic Sequence Variants in COL2A1 Affect the Alternative Splicing Efficiency of Exon 2, and May Confer a Risk for Rhegmatogenous Retinal Detachment.

Spickett C, Hysi P, Hammond CJ, Prescott A, Fincham GS, Poulson AV, McNinch AM, Richards AJ, Snead MP.

Hum Mutat. 2016 Oct;37(10):1085-96. doi: 10.1002/humu.23050. Epub 2016 Aug 21.

PMID:
27406592
9.

Screening of the COL2A1 mutation in idiopathic osteonecrosis of the femoral head.

Sakamoto Y, Yamamoto T, Miyake N, Matsumoto N, Iida A, Nakashima Y; Research Committee on Idiopathic Osteonecrosis of the Femoral Head of the Ministry of Health, Labour and Welfare of Japan, Iwamoto Y, Ikegawa S.

J Orthop Res. 2017 Apr;35(4):768-774. doi: 10.1002/jor.23300. Epub 2016 May 29.

10.

A Primary Investigation on Serum CTX-II Changes in Patients Infected with Brucellosis in Qinghai Plateau, China.

Zhao ZJ, Li Q, Zhou X, Ma L, Xu LQ, Yang PZ, Meng XY, Yu HZ, Xu XQ, Cao JY.

Biomed Environ Sci. 2016 Mar;29(3):229-32. doi: 10.3967/bes2016.029.

11.

Novel COL2A1 mutations causing spondyloepiphyseal dysplasia congenita in three unrelated Chinese families.

Liu L, Pang Q, Jiang Y, Li M, Wang O, Xia W.

Eur Spine J. 2016 Sep;25(9):2967-74. doi: 10.1007/s00586-016-4559-4. Epub 2016 Apr 8. Review.

PMID:
27059630
12.
13.

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.

Barat-Houari M, Dumont B, Fabre A, Them FT, Alembik Y, Alessandri JL, Amiel J, Audebert S, Baumann-Morel C, Blanchet P, Bieth E, Brechard M, Busa T, Calvas P, Capri Y, Cartault F, Chassaing N, Ciorca V, Coubes C, David A, Delezoide AL, Dupin-Deguine D, El Chehadeh S, Faivre L, Giuliano F, Goldenberg A, Isidor B, Jacquemont ML, Julia S, Kaplan J, Lacombe D, Lebrun M, Marlin S, Martin-Coignard D, Martinovic J, Masurel A, Melki J, Mozelle-Nivoix M, Nguyen K, Odent S, Philip N, Pinson L, Plessis G, Quélin C, Shaeffer E, Sigaudy S, Thauvin C, Till M, Touraine R, Vigneron J, Baujat G, Cormier-Daire V, Le Merrer M, Geneviève D, Touitou I.

Eur J Hum Genet. 2016 Jul;24(7):992-1000. doi: 10.1038/ejhg.2015.250. Epub 2015 Dec 2.

14.

Whole exome sequencing identified a novel COL2A1 mutation that causes mild Spondylo-epiphyseal dysplasia mimicking autosomal dominant brachyolmia.

Takagi M, Shimizu M, Suzuki E, Shinohara H, Narumi S, Hasegawa T, Nishimura G, Hasegawa Y.

Am J Med Genet A. 2016 Mar;170(3):795-8. doi: 10.1002/ajmg.a.37481. Epub 2015 Nov 19. No abstract available.

PMID:
26586363
15.

Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.

Barat-Houari M, Sarrabay G, Gatinois V, Fabre A, Dumont B, Genevieve D, Touitou I.

Hum Mutat. 2016 Jan;37(1):7-15. doi: 10.1002/humu.22915. Epub 2015 Oct 21. Review.

PMID:
26443184
16.

Association between Kniest dysplasia and chondrosarcoma in a child.

Hochart A, Dieux A, Coucke P, Fron D, Fayoux P, Labalette P, Boutry N, Escande F, Aubert S, Renaud F, Rocourt N, Vinchon M, Leblond P.

Am J Med Genet A. 2015 Dec;167A(12):3204-8. doi: 10.1002/ajmg.a.37361. Epub 2015 Sep 8.

PMID:
26345137
17.

Dysspondyloenchondromatosis (DSC) associated with COL2A1 mutation: Clinical and radiological overlap with spondyloepimetaphyseal dysplasia-Strudwick type (SEMD-S).

Merrick B, Calder A, Wakeling E.

Am J Med Genet A. 2015 Dec;167A(12):3103-7. doi: 10.1002/ajmg.a.37282. Epub 2015 Aug 6.

PMID:
26250472
18.

Novel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type.

Jurgens J, Sobreira N, Modaff P, Reiser CA, Seo SH, Seong MW, Park SS, Kim OH, Cho TJ, Pauli RM.

Hum Mutat. 2015 Oct;36(10):1004-8. doi: 10.1002/humu.22839. Epub 2015 Aug 6.

19.

[Kniest dysplasia due to mutation of COL2A1 gene].

Wu M, Liu L, Zhou Z, Sheng H, Yin X, Li X, Cheng J, Huang Y, Cai Y, Li C, Fan L, Liu H.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Jun;32(3):323-6. doi: 10.3760/cma.j.issn.1003-9406.2015.03.004. Chinese.

PMID:
26037341
20.

Identification of a Novel Mutation in the COL2A1 Gene in a Chinese Family with Spondyloepiphyseal Dysplasia Congenita.

Huang X, Deng X, Xu H, Wu S, Yuan L, Yang Z, Yang Y, Deng H.

PLoS One. 2015 Jun 1;10(6):e0127529. doi: 10.1371/journal.pone.0127529. eCollection 2015.

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