Literature DB >> 16097004

Demonstration of two novel LAMB2 mutations in the original Pierson syndrome family reported 42 years ago.

Martin Zenker, Michel Pierson, Philippe Jonveaux, André Reis.   

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Year:  2005        PMID： 16097004     DOI： 10.1002/ajmg.a.30894

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  22 in total

1.  A missense LAMB2 mutation causes congenital nephrotic syndrome by impairing laminin secretion.

Authors:  Ying Maggie Chen; Yamato Kikkawa; Jeffrey H Miner
Journal:  J Am Soc Nephrol       Date:  2011-04-21       Impact factor: 10.121

2.  Glomerular basement membrane and related glomerular disease.

Authors:  Ying Maggie Chen; Jeffrey H Miner
Journal:  Transl Res       Date:  2012-04-10       Impact factor: 7.012

Review 3.  Laminin: loss-of-function studies.

Authors:  Yao Yao
Journal:  Cell Mol Life Sci       Date:  2016-10-01       Impact factor: 9.261

Review 4.  Cell-matrix adhesion of podocytes in physiology and disease.

Authors:  Norman Sachs; Arnoud Sonnenberg
Journal:  Nat Rev Nephrol       Date:  2013-01-22       Impact factor: 28.314

Review 5.  Endoplasmic reticulum stress and monogenic kidney diseases in precision nephrology.

Authors:  Sun-Ji Park; Yeawon Kim; Ying Maggie Chen
Journal:  Pediatr Nephrol       Date:  2018-08-11       Impact factor: 3.714

6.  Laminin deficits induce alterations in the development of dopaminergic neurons in the mouse retina.

Authors:  Viktória Dénes; Paul Witkovsky; Manuel Koch; Dale D Hunter; Germán Pinzón-Duarte; William J Brunken
Journal:  Vis Neurosci       Date:  2007-08-22       Impact factor: 3.241

7.  Developmental distribution of collagen IV isoforms and relevance to ocular diseases.

Authors:  Xiaoyang Bai; David J Dilworth; Yi-Chinn Weng; Douglas B Gould
Journal:  Matrix Biol       Date:  2009-03-09       Impact factor: 11.583

8.  Variable phenotype of Pierson syndrome.

Authors:  Hyun Jin Choi; Beom Hee Lee; Ju Hyung Kang; Hyoen Joo Jeong; Kyung Chul Moon; Il Soo Ha; Young Suk Yu; Verena Matejas; Martin Zenker; Yong Choi; Hae Il Cheong
Journal:  Pediatr Nephrol       Date:  2008-06       Impact factor: 3.714

Review 9.  The glomerular basement membrane as a barrier to albumin.

Authors:  Jung Hee Suh; Jeffrey H Miner
Journal:  Nat Rev Nephrol       Date:  2013-06-18       Impact factor: 28.314

Review 10.  The role of laminins in the organization and function of neuromuscular junctions.

Authors:  Robert S Rogers; Hiroshi Nishimune
Journal:  Matrix Biol       Date:  2016-09-07       Impact factor: 11.583
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