Literature DB >> 33471318

Spectrum of tubular dysfunction in Donnai-Barrow syndrome. Lessons for the clinical nephrologist.

Marina Aksenova1, Natalia Zaikova2, Tatiana Lepaeva2.   

Abstract

Entities:  

Year:  2021        PMID： 33471318     DOI： 10.1007/s40620-020-00890-2

Source DB:  PubMed          Journal:  J Nephrol        ISSN： 1121-8428            Impact factor:   3.902


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  9 in total

1.  Interaction of two actin-binding proteins, synaptopodin and alpha-actinin-4, with the tight junction protein MAGI-1.

Authors:  Kevin M Patrie; Andrew J Drescher; Ajith Welihinda; Peter Mundel; Ben Margolis
Journal:  J Biol Chem       Date:  2002-05-31       Impact factor: 5.157

Review 2.  Tracing the retrograde route in protein trafficking.

Authors:  Ludger Johannes; Vincent Popoff
Journal:  Cell       Date:  2008-12-26       Impact factor: 41.582

3.  In-depth phenotyping of a Donnai-Barrow patient helps clarify proximal tubule dysfunction.

Authors:  Angélique Dachy; François Paquot; Guillaume Debray; Christophe Bovy; Erik I Christensen; Laure Collard; François Jouret
Journal:  Pediatr Nephrol       Date:  2015-03-31       Impact factor: 3.714

4.  Hypercalciuria and nephrolithiasis: Expanding the renal phenotype of Donnai-Barrow syndrome.

Authors:  F Anglani; L Terrin; M Brugnara; M Battista; V Cantaluppi; M Ceol; L Bertoldi; G Valle; M P Joy; B R Pober; M Longoni
Journal:  Clin Genet       Date:  2018-03-13       Impact factor: 4.438

5.  Megalin mediates plasma membrane to mitochondria cross-talk and regulates mitochondrial metabolism.

Authors:  Qingtian Li; Fan Lei; Yi Tang; Jenny Szu-Chin Pan; Qiang Tong; Yuxiang Sun; David Sheikh-Hamad
Journal:  Cell Mol Life Sci       Date:  2018-06-09       Impact factor: 9.261

6.  Renal phenotypic investigations of megalin-deficient patients: novel insights into tubular proteinuria and albumin filtration.

Authors:  Tina Storm; Lisbeth Tranebjærg; Carina Frykholm; Henrik Birn; Pierre J Verroust; Tryggve Nevéus; Birgitta Sundelin; Jens Michael Hertz; Gerd Holmström; Katharina Ericson; Erik I Christensen; Rikke Nielsen
Journal:  Nephrol Dial Transplant       Date:  2012-10-09       Impact factor: 5.992

7.  A 56-year-old female patient with facio-oculo-acoustico-renal syndrome (FOAR) syndrome. Report on the natural history and of a novel mutation.

Authors:  Samantha Stora; Martine Conte; Eliane Chouery; Sami Richa; Nadine Jalkh; Anne-Céline Gillart; Anne-Laure de Joannis; André Mégarbané
Journal:  Eur J Med Genet       Date:  2009-07-03       Impact factor: 2.708

8.  Induced pluripotent stem cell-based disease modeling identifies ligand-induced decay of megalin as a cause of Donnai-Barrow syndrome.

Authors:  Julia Flemming; Maike Marczenke; Ina-Maria Rudolph; Rikke Nielsen; Tina Storm; Ilsoe Christensen Erik; Sebastian Diecke; Francesco Emma; Thomas E Willnow
Journal:  Kidney Int       Date:  2020-03-24       Impact factor: 10.612

9.  The endocytic receptor megalin and its associated proteins in proximal tubule epithelial cells.

Authors:  Shankhajit De; Shoji Kuwahara; Akihiko Saito
Journal:  Membranes (Basel)       Date:  2014-07-11
  9 in total

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