Literature DB >> 33849931

Could This Be Alport Syndrome?

Rachel Lennon1,2, Alessia Fornoni3,4.   

Abstract

Entities:  

Keywords:  Alport syndrome; genetic kidney disease; glomerular filtration barrier; podocyte

Mesh：

Substances：

Year:  2021        PMID： 33849931      PMCID： PMC8729414          DOI： 10.2215/CJN.00120121

Source DB:  PubMed          Journal:  Clin J Am Soc Nephrol        ISSN： 1555-9041            Impact factor:   8.237


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  11 in total

1.  Early angiotensin-converting enzyme inhibition in Alport syndrome delays renal failure and improves life expectancy.

Authors:  Oliver Gross; Christoph Licht; Hans J Anders; Bernd Hoppe; Bodo Beck; Burkhard Tönshoff; Britta Höcker; Simone Wygoda; Jochen H H Ehrich; Lars Pape; Martin Konrad; Wolfgang Rascher; Jörg Dötsch; Dirk E Müller-Wiefel; Peter Hoyer; Bertrand Knebelmann; Yves Pirson; Jean-Pierre Grunfeld; Patrick Niaudet; Pierre Cochat; Laurence Heidet; Said Lebbah; Roser Torra; Tim Friede; Katharina Lange; Gerhard A Müller; Manfred Weber
Journal:  Kidney Int       Date:  2011-12-14       Impact factor: 10.612

2.  Identification of mutations in the COL4A5 collagen gene in Alport syndrome.

Authors:  D F Barker; S L Hostikka; J Zhou; L T Chow; A R Oliphant; S C Gerken; M C Gregory; M H Skolnick; C L Atkin; K Tryggvason
Journal:  Science       Date:  1990-06-08       Impact factor: 47.728

Review 3.  Complexities of the glomerular basement membrane.

Authors:  Richard W Naylor; Mychel R P T Morais; Rachel Lennon
Journal:  Nat Rev Nephrol       Date:  2020-08-24       Impact factor: 28.314

4.  Collagen receptors integrin alpha2beta1 and discoidin domain receptor 1 regulate maturation of the glomerular basement membrane and loss of integrin alpha2beta1 delays kidney fibrosis in COL4A3 knockout mice.

Authors:  Diana Rubel; Jenny Frese; Maria Martin; Alexander Leibnitz; Rainer Girgert; Nicolai Miosge; Beate Eckes; Gerhard-Anton Müller; Oliver Gross
Journal:  Matrix Biol       Date:  2014-01-27       Impact factor: 11.583

5.  A multicenter, randomized, placebo-controlled, double-blind phase 3 trial with open-arm comparison indicates safety and efficacy of nephroprotective therapy with ramipril in children with Alport's syndrome.

Authors:  Oliver Gross; Burkhard Tönshoff; Lutz T Weber; Lars Pape; Kay Latta; Henry Fehrenbach; Baerbel Lange-Sperandio; Hildegard Zappel; Peter Hoyer; Hagen Staude; Sabine König; Ulrike John; Jutta Gellermann; Bernd Hoppe; Matthias Galiano; Britta Hoecker; Rasmus Ehren; Christian Lerch; Clifford E Kashtan; Markus Harden; Jan Boeckhaus; Tim Friede
Journal:  Kidney Int       Date:  2020-01-17       Impact factor: 10.612

Review 6.  Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy.

Authors:  Judy Savige; Martin Gregory; Oliver Gross; Clifford Kashtan; Jie Ding; Frances Flinter
Journal:  J Am Soc Nephrol       Date:  2013-01-24       Impact factor: 10.121

7.  Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome.

Authors:  T Mochizuki; H H Lemmink; M Mariyama; C Antignac; M C Gubler; Y Pirson; C Verellen-Dumoulin; B Chan; C H Schröder; H J Smeets
Journal:  Nat Genet       Date:  1994-09       Impact factor: 38.330

8.  Diagnostic Utility of Exome Sequencing for Kidney Disease.

Authors:  Emily E Groopman; Maddalena Marasa; Sophia Cameron-Christie; Slavé Petrovski; Vimla S Aggarwal; Hila Milo-Rasouly; Yifu Li; Junying Zhang; Jordan Nestor; Priya Krithivasan; Wan Yee Lam; Adele Mitrotti; Stacy Piva; Byum H Kil; Debanjana Chatterjee; Rachel Reingold; Drew Bradbury; Michael DiVecchia; Holly Snyder; Xueru Mu; Karla Mehl; Olivia Balderes; David A Fasel; Chunhua Weng; Jai Radhakrishnan; Pietro Canetta; Gerald B Appel; Andrew S Bomback; Wooin Ahn; Natalie S Uy; Shumyle Alam; David J Cohen; Russell J Crew; Geoffrey K Dube; Maya K Rao; Sitharthan Kamalakaran; Brett Copeland; Zhong Ren; Joshua Bridgers; Colin D Malone; Caroline M Mebane; Neha Dagaonkar; Bengt C Fellström; Carolina Haefliger; Sumit Mohan; Simone Sanna-Cherchi; Krzysztof Kiryluk; Jan Fleckner; Ruth March; Adam Platt; David B Goldstein; Ali G Gharavi
Journal:  N Engl J Med       Date:  2018-12-26       Impact factor: 176.079

9.  Discoidin domain receptor 1 activation links extracellular matrix to podocyte lipotoxicity in Alport syndrome.

Authors:  Jin-Ju Kim; Judith M David; Sydney S Wilbon; Javier V Santos; Devang M Patel; Anis Ahmad; Alla Mitrofanova; Xiaochen Liu; Shamroop K Mallela; Gloria M Ducasa; Mengyuan Ge; Alexis J Sloan; Hassan Al-Ali; Marcia Boulina; Armando J Mendez; Gabriel N Contreras; Marco Prunotto; Anjum Sohail; Rafael Fridman; Jeffrey H Miner; Sandra Merscher; Alessia Fornoni
Journal:  EBioMedicine       Date:  2020-12-16       Impact factor: 8.143

10.  Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis.

Authors:  Andrew F Malone; Paul J Phelan; Gentzon Hall; Umran Cetincelik; Alison Homstad; Andrea S Alonso; Ruiji Jiang; Thomas B Lindsey; Guanghong Wu; Matthew A Sparks; Stephen R Smith; Nicholas J A Webb; Philip A Kalra; Adebowale A Adeyemo; Andrey S Shaw; Peter J Conlon; J Charles Jennette; David N Howell; Michelle P Winn; Rasheed A Gbadegesin
Journal:  Kidney Int       Date:  2014-09-17       Impact factor: 10.612
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