Format
Sort by
Items per page

Send to

Choose Destination

Links from Protein

Items: 1 to 20 of 484

1.

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
2.

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.

PMID:
27888646
3.

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
4.

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.

PMID:
27183340
5.

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.

6.

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
7.
8.

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.

9.

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
10.

Endoplasmic reticulum stress-mediated apoptosis contributes to a skeletal dysplasia resembling platyspondylic lethal skeletal dysplasia, Torrance type, in a novel Col2a1 mutant mouse line.

Kimura M, Ichimura S, Sasaki K, Masuya H, Suzuki T, Wakana S, Ikegawa S, Furuichi T.

Biochem Biophys Res Commun. 2015 Dec 4-11;468(1-2):86-91. doi: 10.1016/j.bbrc.2015.10.160. Epub 2015 Nov 9.

PMID:
26545783
11.

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
12.

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
13.

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
14.

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.

15.

[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
16.

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.

17.

Identification of a novel mutation of the COL2A1 gene in a Chinese family with spondyloepiphyseal dysplasia congenita.

Li H, Ma L, Wang B, Cui Y, Xiao T.

Eur Spine J. 2015 Aug;24(8):1813-9. doi: 10.1007/s00586-015-3999-6. Epub 2015 May 13.

PMID:
25967556
18.

Spondyloepiphyseal dysplasia congenita caused by double heterozygous mutations in COL2A1.

Kawano O, Nakamura A, Morikawa S, Uetake K, Ishizu K, Tajima T.

Am J Med Genet A. 2015 Jul;167(7):1578-81. doi: 10.1002/ajmg.a.37073. Epub 2015 Apr 21.

PMID:
25900302
19.

[Identification of a novel mutation of COL2A1 gene in a Chinese family affected with spondyloepiphyseal dysplasia congenita].

Li H, Ji A, Ma L, Wang B, Li Y, Cui Y.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Apr;32(2):240-4. doi: 10.3760/cma.j.issn.1003-9406.2015.02.020. Chinese.

PMID:
25863096
20.

Six additional cases of SEDC due to the same and recurrent R989C mutation in the COL2A1 gene--the clinical and radiological follow-up.

Silveira KC, Bonadia LC, Superti-Furga A, Bertola DR, Jorge AA, Cavalcanti DP.

Am J Med Genet A. 2015 Apr;167A(4):894-901. doi: 10.1002/ajmg.a.36954. Epub 2015 Mar 3. No abstract available.

PMID:
25735649

Supplemental Content

Support Center