Literature DB >> 26951353

Familial focal segmental glomerulosclerosis: mutation in inverted formin 2 mimicking Alport syndrome.

I M Rood1, E M H F Bongers, D Lugtenberg, I H H T Klein, E J Steenbergen, J F M Wetzels, J K J Deegens.   

Abstract

Focal segmental glomerulosclerosis (FSGS) is one of the most common patterns of glomerular injury. FSGS can be caused by mutations in genes encoding proteins that play key roles in the function of the podocyte and glomerular basement membrane. In this case report we present a family with FSGS initially suspected to be Alport syndrome. Genetic analysis according to the Dutch guidelines of FSGS revealed a mutation in INF2.

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Year:  2016        PMID: 26951353

Source DB:  PubMed          Journal:  Neth J Med        ISSN: 0300-2977            Impact factor:   1.422


  4 in total

1.  A Deregulated Stress Response Underlies Distinct INF2-Associated Disease Profiles.

Authors:  Samet Bayraktar; Julian Nehrig; Ekaterina Menis; Kevser Karli; Annette Janning; Thaddäus Struk; Jan Halbritter; Ulf Michgehl; Michael P Krahn; Christian E Schuberth; Hermann Pavenstädt; Roland Wedlich-Söldner
Journal:  J Am Soc Nephrol       Date:  2020-06       Impact factor: 10.121

2.  Mutations in INF2 may be associated with renal histology other than focal segmental glomerulosclerosis.

Authors:  Anja K Büscher; Nora Celebi; Peter F Hoyer; Hanns-Georg Klein; Stefanie Weber; Julia Hoefele
Journal:  Pediatr Nephrol       Date:  2017-10-06       Impact factor: 3.714

Review 3.  Inverted formins: A subfamily of atypical formins.

Authors:  Anna Hegsted; Curtis V Yingling; David Pruyne
Journal:  Cytoskeleton (Hoboken)       Date:  2017-09-29

Review 4.  Formins in Human Disease.

Authors:  Leticia Labat-de-Hoz; Miguel A Alonso
Journal:  Cells       Date:  2021-09-27       Impact factor: 6.600

  4 in total

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