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

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D O I：

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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

共 50 条

[1] Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis
Brown, Elizabeth J.
Schloendorff, Johannes S.
Becker, Daniel J.
Tsukaguchi, Hiroyasu
Uscinski, Andrea L.
Higgs, Henry N.
Henderson, Joel M.
Pollak, Martin R.
NATURE GENETICS, 2010, 42 (01) : 72 - U91
[2] Correction: Corrigendum: Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis
Elizabeth J Brown
Johannes S Schlöndorff
Daniel J Becker
Hiroyasu Tsukaguchi
Andrea L Uscinski
Henry N Higgs
Joel M Henderson
Martin R Pollak
Nature Genetics, 2010, 42 : 361 - 361
[3] Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis (vol 42, pg 72, 2010)
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