Diagnosing FSGS without kidney biopsy - a novel INF2-mutation in a family with ESRD of unknown origin

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Genomic medicine for kidney disease.Inverted formins: A subfamily of atypical formins.Mutations in INF2 may be associated with renal histology other than focal segmental glomerulosclerosis.

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Diagnosing FSGS without kidney biopsy - a novel INF2-mutation in a family with ESRD of unknown origin

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2016 nî lūn-bûn

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2016年の論文

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2016年論文

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2016年論文

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2016年論文

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2016年論文

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2016年論文

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2016年论文

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2016年论文

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2016年论文

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Diagnosing FSGS without kidney ...... ly with ESRD of unknown origin

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Diagnosing FSGS without kidney ...... ly with ESRD of unknown origin

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Diagnosing FSGS without kidney ...... ly with ESRD of unknown origin

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Diagnosing FSGS without kidney ...... ly with ESRD of unknown origin

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Diagnosing FSGS without kidney ...... ly with ESRD of unknown origin

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Diagnosing FSGS without kidney ...... ly with ESRD of unknown origin

@en

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Diagnosing FSGS without kidney ...... ly with ESRD of unknown origin

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Carsten Bergmann

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Jan Halbritter

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Johannes Münch

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Maik Grohmann

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Tom H Lindner

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P2860

Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis

Staying in shape with formins

INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy.

A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.

INF2 Is a WASP homology 2 motif-containing formin that severs actin filaments and accelerates both polymerization and depolymerization.

Inverted formin 2 regulates actin dynamics by antagonizing Rho/diaphanous-related formin signaling.

Genetics of nephrotic syndrome: connecting molecular genetics to podocyte physiology.

Modification of mineralocorticoid receptor function by Rac1 GTPase: implication in proteinuric kidney disease.

Mutations in INF2 are a major cause of autosomal dominant focal segmental glomerulosclerosis.

Aldosterone modulates endothelial permeability and endothelial nitric oxide synthase activity by rearrangement of the actin cytoskeleton.

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s12881-016-0336-9

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scholarly article

case report

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10.1186/S12881-016-0336-9

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P478

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2016-10-12T00:00:00Z

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27733133

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5062827

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Diagnosing FSGS without kidney biopsy - a novel INF2-mutation in a family with ESRD of unknown origin

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P2860

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Diagnosing FSGS without kidney biopsy - a novel INF2-mutation in a family with ESRD of unknown origin

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P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P577

P698

P932

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P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P577

P698

P932