Literature DB >> 21071975

Genetic disorders of glomerular basement membranes.

Clifford E Kashtan1, Yoav Segal.   

Abstract

This review provides current information about glomerular disorders that arise directly from inherited abnormalities in extracellular matrix proteins intrinsic to the glomerular basement membrane (Alport syndrome, thin basement membrane nephropathy, HANAC syndrome and Pierson syndrome). The authors also discuss disorders involving genetic defects in cellular proteins that result in structural defects in glomerular basement membranes (MYH9-related disorders, nail-patella syndrome).
Copyright © 2010 S. Karger AG, Basel.

Entities:  

Mesh：

Year:  2010        PMID： 21071975     DOI： 10.1159/000320876

Source DB:  PubMed          Journal:  Nephron Clin Pract        ISSN： 1660-2110


  14 in total

1.  Improving mutation screening in familial hematuric nephropathies through next generation sequencing.

Authors:  Vincent Morinière; Karin Dahan; Pascale Hilbert; Marieline Lison; Said Lebbah; Alexandra Topa; Christine Bole-Feysot; Solenn Pruvost; Patrick Nitschke; Emmanuelle Plaisier; Bertrand Knebelmann; Marie-Alice Macher; Laure-Hélène Noel; Marie-Claire Gubler; Corinne Antignac; Laurence Heidet
Journal:  J Am Soc Nephrol       Date:  2014-05-22       Impact factor: 10.121

Review 2.  Alport syndrome--insights from basic and clinical research.

Authors:  Jenny Kruegel; Diana Rubel; Oliver Gross
Journal:  Nat Rev Nephrol       Date:  2012-11-20       Impact factor: 28.314

3.  Diagnosis of Alport syndrome--search for proteomic biomarkers in body fluids.

Authors:  Michael Pohl; Karin Danz; Oliver Gross; Ulrike John; Johannes Urban; Ludwig Patzer; Sandra Habbig; Markus Feldkötter; Oliver Witzke; Mario Walther; Heidrun Rhode
Journal:  Pediatr Nephrol       Date:  2013-06-23       Impact factor: 3.714

4.  Panel sequencing distinguishes monogenic forms of nephritis from nephrosis in children.

Authors:  David Schapiro; Ankana Daga; Jennifer A Lawson; Amar J Majmundar; Svjetlana Lovric; Weizhen Tan; Jillian K Warejko; Inés Fessi; Jia Rao; Merlin Airik; Heon Yung Gee; Ronen Schneider; Eugen Widmeier; Tobias Hermle; Shazia Ashraf; Tilman Jobst-Schwan; Amelie T van der Ven; Makiko Nakayama; Shirlee Shril; Daniela A Braun; Friedhelm Hildebrandt
Journal:  Nephrol Dial Transplant       Date:  2019-03-01       Impact factor: 5.992

5.  Glomerular cell cross-talk influences composition and assembly of extracellular matrix.

Authors:  Adam Byron; Michael J Randles; Jonathan D Humphries; Aleksandr Mironov; Hellyeh Hamidi; Shelley Harris; Peter W Mathieson; Moin A Saleem; Simon C Satchell; Roy Zent; Martin J Humphries; Rachel Lennon
Journal:  J Am Soc Nephrol       Date:  2014-01-16       Impact factor: 10.121

6.  Upregulated expression of integrin α1 in mesangial cells and integrin α3 and vimentin in podocytes of Col4a3-null (Alport) mice.

Authors:  Brooke M Steenhard; Roberto Vanacore; David Friedman; Adrian Zelenchuk; Larysa Stroganova; Kathryn Isom; Patricia L St John; Billy G Hudson; Dale R Abrahamson
Journal:  PLoS One       Date:  2012-12-07       Impact factor: 3.240

7.  Multiple kidney cysts in thin basement membrane disease with proteinuria and kidney function impairment.

Authors:  Angel M Sevillano; Eduardo Gutierrez; Enrique Morales; Eduardo Hernandez; Maria Molina; Ester Gonzalez; Manuel Praga
Journal:  Clin Kidney J       Date:  2014-04-15

8.  Negative Staining for COL4A5 Correlates With Worse Prognosis and More Severe Ultrastructural Alterations in Males With Alport Syndrome.

Authors:  Samar M Said; Mary E Fidler; Anthony M Valeri; Brooke McCann; Wade Fiedler; Lynn D Cornell; Mariam Priya Alexander; Ahmed M Alkhunaizi; Anne Sullivan; Carl H Cramer; Marie C Hogan; Samih H Nasr
Journal:  Kidney Int Rep       Date:  2016-09-29

9.  Phenotype variability in a large Spanish family with Alport syndrome associated with novel mutations in COL4A3 gene.

Authors:  C Cervera-Acedo; A Coloma; E Huarte-Loza; M Sierra-Carpio; E Domínguez-Garrido
Journal:  BMC Nephrol       Date:  2017-10-31       Impact factor: 2.388

10.  COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect?

Authors:  Konstantinos Voskarides; Gregory Papagregoriou; Despina Hadjipanagi; Ioanelli Petrou; Isavella Savva; Avraam Elia; Yiannis Athanasiou; Androulla Pastelli; Maria Kkolou; Michalis Hadjigavriel; Christoforos Stavrou; Alkis Pierides; Constantinos Deltas
Journal:  BMC Nephrol       Date:  2018-05-16       Impact factor: 2.388
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