Literature DB >> 21671384

Avascular necrosis of the femoral head due to a novel C propeptide mutation in COL2A1.

Peter Kannu1, D D O'Rielly, J C Hyland, L Ala Kokko.   

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Year:  2011        PMID： 21671384     DOI： 10.1002/ajmg.a.34056

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  16 in total

1.  Collagen type V a2 (COL5A2) is decreased in steroid-induced necrosis of the femoral head.

Authors:  Fan Yang; Pengbo Luo; Hao Ding; Changqing Zhang; Zhenhong Zhu
Journal:  Am J Transl Res       Date:  2018-08-15       Impact factor: 4.060

Review 2.  The triple helix of collagens - an ancient protein structure that enabled animal multicellularity and tissue evolution.

Authors:  Aaron L Fidler; Sergei P Boudko; Antonis Rokas; Billy G Hudson
Journal:  J Cell Sci       Date:  2018-04-09       Impact factor: 5.285

3.  Osteonecrosis of the femoral head: genetic basis.

Authors:  Tracy Wang; Bouziane Azeddine; Wayne Mah; Edward J Harvey; David Rosenblatt; Chantal Séguin
Journal:  Int Orthop       Date:  2018-10-17       Impact factor: 3.075

4.  Osteonecrosis of the femoral head: An update in year 2012.

Authors:  Anjan P Kaushik; Anusuya Das; Quanjun Cui
Journal:  World J Orthop       Date:  2012-05-18

5.  Mutational analysis of TAC3 and TACR3 genes in patients with idiopathic central pubertal disorders.

Authors:  Cintia Tusset; Sekoni D Noel; Ericka B Trarbach; Letícia F G Silveira; Alexander A L Jorge; Vinicius N Brito; Priscila Cukier; Stephanie B Seminara; Berenice B de Mendonça; Ursula B Kaiser; Ana Claudia Latronico
Journal:  Arq Bras Endocrinol Metabol       Date:  2012-12

6.  A novel mutation of COL2A1 in a large Chinese family with avascular necrosis of the femoral head.

Authors:  Zeng Zhang; Kechao Zhu; Huiyong Dai; Qi Wang; Changqing Zhang; Zhenlin Zhang
Journal:  BMC Med Genomics       Date:  2021-06-04       Impact factor: 3.063

7.  Diagnosis with Multiple Epiphyseal Dysplasia Using Whole-exome Sequencing in a Chinese Family.

Authors:  Hong-Yan Liu; Ji-Fang Xiao; Jia Huang; Yue Wang; Dong Wu; Tao Li; Hong-Dan Wang; Liang-Jie Guo; Qian-Nan Guo; Hai Xiao; Xue Lyu; Zheng-Hong Yu
Journal:  Chin Med J (Engl)       Date:  2017-01-05       Impact factor: 2.628

8.  A novel p. Gly630Ser mutation of COL2A1 in a Chinese family with presentations of Legg-Calvé-Perthes disease or avascular necrosis of the femoral head.

Authors:  Na Li; Jian Yu; Xiang Cao; Qiu-Yue Wu; Wei-Wei Li; Tian-Fu Li; Cui Zhang; Ying-Xia Cui; Xiao-Jun Li; Zhi-Min Yin; Xin-Yi Xia
Journal:  PLoS One       Date:  2014-06-20       Impact factor: 3.240

Review 9.  Endoplasmic reticulum stress in chondrodysplasias caused by mutations in collagen types II and X.

Authors:  Katarzyna Gawron
Journal:  Cell Stress Chaperones       Date:  2016-08-15       Impact factor: 3.667

10.  Short stature, platyspondyly, hip dysplasia, and retinal detachment: an atypical type II collagenopathy caused by a novel mutation in the C-propeptide region of COL2A1: a case report.

Authors:  Apiruk Sangsin; Chalurmpon Srichomthong; Monnat Pongpanich; Kanya Suphapeetiporn; Vorasuk Shotelersuk
Journal:  BMC Med Genet       Date:  2016-12-12       Impact factor: 2.103
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