Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis

被引：0

作者：

Elizabeth J Brown

Johannes S Schlöndorff

Daniel J Becker

Hiroyasu Tsukaguchi

Stephen J Tonna

Andrea L Uscinski

Henry N Higgs

Joel M Henderson

Martin R Pollak

机构：

[1] Children's Hospital,Renal Division

[2] Harvard Medical School,Renal Division

[3] Brigham and Women's Hospital,Department of Biochemistry

[4] Dartmouth Medical School,Department of Pathology

[5] Brigham and Women's Hospital,undefined

[6] Present addresses: Second Department of Internal Medicine,undefined

[7] Kansai Medical University 10-15 Fumizono,undefined

[8] Moriguchi,undefined

[9] Osaka,undefined

[10] Japan (H.T.),undefined

[11] Baker IDI Heart and Diabetes Institute,undefined

[12] Melbourne,undefined

[13] Victoria,undefined

[14] Australia (S.J.T.) and Department of Pathology,undefined

[15] Boston University Medical Center,undefined

[16] Boston,undefined

[17] Massachusetts,undefined

[18] USA (J.M.H).,undefined

来源：

Nature Genetics | 2010年 / 42卷

关键词：

D O I：

暂无

中图分类号：

学科分类号：

摘要：

Martin Pollak and colleagues show that missense mutations in the diaphanous inhibitory domain of INF2 cause focal segmental glomerular sclerosis. INF2 encodes a member of the formin family of actin-regulating proteins, highlighting an important role for actin dynamics in podocyte function.

引用

页码：72 / 76

页数：4

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