Literature DB >> 35419542

Pathogenic LAMA5 Variants and Kidney Disease.

Judy Savige1, Philip Harraka1.   

Abstract

Entities:  

Keywords:  Alport syndrome; FSGS; Pierson syndrome; basement membrane; collagen IV; genetic kidney disease; genetics; kidney cysts; laminin; modifying variants; pathogenic variants

Mesh：

Substances：

Year:  2021        PMID： 35419542      PMCID： PMC8986053          DOI： 10.34067/KID.0007312021

Source DB:  PubMed          Journal:  Kidney360        ISSN： 2641-7650


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  14 in total

Review 1.  Laminin functions in tissue morphogenesis.

Authors:  Jeffrey H Miner; Peter D Yurchenco
Journal:  Annu Rev Cell Dev Biol       Date:  2004       Impact factor: 13.827

2.  Molecular dissection of laminin alpha 5 in vivo reveals separable domain-specific roles in embryonic development and kidney function.

Authors:  Yamato Kikkawa; Jeffrey H Miner
Journal:  Dev Biol       Date:  2006-05-05       Impact factor: 3.582

3.  Identification of the first dominant mutation of LAMA5 gene causing a complex multisystem syndrome due to dysfunction of the extracellular matrix.

Authors:  Simone Sampaolo; Filomena Napolitano; Alfonsina Tirozzi; Mafalda Giovanna Reccia; Luca Lombardi; Olimpia Farina; Adriano Barra; Ferdinando Cirillo; Mariarosa Anna Beatrice Melone; Fernando Gianfrancesco; Giuseppe Di Iorio; Teresa Esposito
Journal:  J Med Genet       Date:  2017-07-22       Impact factor: 6.318

4.  Transgenic isolation of skeletal muscle and kidney defects in laminin beta2 mutant mice: implications for Pierson syndrome.

Authors:  Jeffrey H Miner; Gloriosa Go; Jeanette Cunningham; Bruce L Patton; George Jarad
Journal:  Development       Date:  2006-02-01       Impact factor: 6.868

5.  Maintenance of glomerular filtration barrier integrity requires laminin alpha5.

Authors:  Seth Goldberg; Tracy L Adair-Kirk; Robert M Senior; Jeffrey H Miner
Journal:  J Am Soc Nephrol       Date:  2010-02-11       Impact factor: 10.121

Review 6.  A presynaptic congenital myasthenic syndrome attributed to a homozygous sequence variant in LAMA5.

Authors:  Ricardo A Maselli; Juan Arredondo; Jessica Vázquez; Jessica X Chong; Michael J Bamshad; Deborah A Nickerson; Marian Lara; Fiona Ng; Victoria Lee Lo; Peter Pytel; Craig M McDonald
Journal:  Ann N Y Acad Sci       Date:  2018-01-28       Impact factor: 5.691

7.  Corneal endothelial cell abnormalities in X-linked Alport syndrome.

Authors:  Eleanor Nicklason; Heather Mack; Jacqueline Beltz; Julie Jacob; Mina Farahani; Deb Colville; Judy Savige
Journal:  Ophthalmic Genet       Date:  2020-03-11       Impact factor: 1.803

8.  Non-collagen genes role in digenic Alport syndrome.

Authors:  S Daga; C Fallerini; S Furini; C Pecoraro; F Scolari; F Ariani; M Bruttini; M A Mencarelli; F Mari; A Renieri; A M Pinto
Journal:  BMC Nephrol       Date:  2019-02-26       Impact factor: 2.388

9.  Collagen IV Gene Mutations in Adults With Bilateral Renal Cysts and CKD.

Authors:  Ashima Gulati; Angel M Sevillano; Manuel Praga; Eduardo Gutierrez; Ignacio Alba; Neera K Dahl; Whitney Besse; Jungmin Choi; Stefan Somlo
Journal:  Kidney Int Rep       Date:  2019-09-11

Review 10.  Pathogenic Variants in the Genes Affected in Alport Syndrome (COL4A3-COL4A5) and Their Association With Other Kidney Conditions: A Review.

Authors:  Judy Savige; Philip Harraka
Journal:  Am J Kidney Dis       Date:  2021-07-08       Impact factor: 8.860
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