Literature DB >> 25888712

COL4A3 mutations cause focal segmental glomerulosclerosis.

Jingyuan Xie1, Xiaoxi Wu2, Hong Ren1, Weiming Wang1, Zhaohui Wang1, Xiaoxia Pan1, Xu Hao1, Jun Tong1, Jun Ma1, Zhibin Ye3, Guoyu Meng4, Yufei Zhu2, Krzysztof Kiryluk5, Xiangyin Kong2, Landian Hu6, Nan Chen7.   

Abstract

Entities:  

Year:  2015        PMID： 25888712     DOI： 10.1093/jmcb/mjv023

Source DB:  PubMed          Journal:  J Mol Cell Biol        ISSN： 1759-4685            Impact factor:   6.216


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  8 in total

1.  Integration of Genetic Testing and Pathology for the Diagnosis of Adults with FSGS.

Authors:  Tony Yao; Khalil Udwan; Rohan John; Akanchaya Rana; Amirreza Haghighi; Lizhen Xu; Saidah Hack; Heather N Reich; Michelle Adrienne Hladunewich; Daniel C Cattran; Andrew D Paterson; York Pei; Moumita Barua
Journal:  Clin J Am Soc Nephrol       Date:  2019-01-15       Impact factor: 8.237

2.  COL4A3 Gene Variants and Diabetic Kidney Disease in MODY.

Authors:  Yiting Wang; Junlin Zhang; Yingwang Zhao; Shanshan Wang; Jie Zhang; Qianqian Han; Rui Zhang; Ruikun Guo; Hanyu Li; Li Li; Tingli Wang; Xi Tang; Changzheng He; Geer Teng; Weiyue Gu; Fang Liu
Journal:  Clin J Am Soc Nephrol       Date:  2018-07-16       Impact factor: 8.237

3.  Genetic mutational testing of Chinese children with familial hematuria with biopsy‑proven FSGS.

Authors:  Yongzhen Li; Ying Wang; Qingnan He; Xiqiang Dang; Yan Cao; Xiaochuan Wu; Shuanghong Mo; Xiaoxie He; Zhuwen Yi
Journal:  Mol Med Rep       Date:  2017-11-10       Impact factor: 2.952

4.  Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome.

Authors:  Jian-Hong Liu; Xiu-Xiu Wei; Ang Li; Ying-Xia Cui; Xin-Yi Xia; Wei-Song Qin; Ming-Chao Zhang; Er-Zhi Gao; Jun Sun; Chun-Lin Gao; Feng-Xia Liu; Qiu-Yue Wu; Wei-Wei Li; Zhi-Hong Liu; Xiao-Jun Li
Journal:  PLoS One       Date:  2017-05-18       Impact factor: 3.240

5.  A functional variant in NEPH3 gene confers high risk of renal failure in primary hematuric glomerulopathies. Evidence for predisposition to microalbuminuria in the general population.

Authors:  Konstantinos Voskarides; Charalambos Stefanou; Myrtani Pieri; Panayiota Demosthenous; Kyriakos Felekkis; Maria Arsali; Yiannis Athanasiou; Dimitris Xydakis; Kostas Stylianou; Eugenios Daphnis; Giorgos Goulielmos; Petros Loizou; Judith Savige; Martin Höhne; Linus A Völker; Thomas Benzing; Patrick H Maxwell; Daniel P Gale; Mathias Gorski; Carsten Böger; Barbara Kollerits; Florian Kronenberg; Bernhard Paulweber; Michalis Zavros; Alkis Pierides; Constantinos Deltas
Journal:  PLoS One       Date:  2017-03-23       Impact factor: 3.240

6.  Genotype-phenotype correlation and prognostic impact in Chinese patients with Alport Syndrome.

Authors:  Shunlai Shang; Fei Peng; Tao Wang; Xiaoyuan Wu; Ping Li; Qinggang Li; Xiang M Chen
Journal:  Mol Genet Genomic Med       Date:  2019-05-29       Impact factor: 2.183

7.  Clinical and pathological phenotype of genetic causes of focal segmental glomerulosclerosis in adults.

Authors:  Nicola Lepori; Ladan Zand; Sanjeev Sethi; Gema Fernandez-Juarez; Fernando C Fervenza
Journal:  Clin Kidney J       Date:  2018-01-09

8.  COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect?

Authors:  Konstantinos Voskarides; Gregory Papagregoriou; Despina Hadjipanagi; Ioanelli Petrou; Isavella Savva; Avraam Elia; Yiannis Athanasiou; Androulla Pastelli; Maria Kkolou; Michalis Hadjigavriel; Christoforos Stavrou; Alkis Pierides; Constantinos Deltas
Journal:  BMC Nephrol       Date:  2018-05-16       Impact factor: 2.388
  8 in total

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