Literature DB >> 27019444

Novel NPHS1 gene mutations in a Chinese family with congenital nephrotic syndrome.

Fengjie Yang1, Yaxian Chen, Yu Zhang, Liru Qiu, Yu Chen, Jianhua Zhou.   

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Year:  2016        PMID： 27019444     DOI： 10.1007/s12041-015-0598-6

Source DB:  PubMed          Journal:  J Genet        ISSN： 0022-1333            Impact factor:   1.166


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  20 in total

1.  Two novel NPHS1 mutations in a Chinese family with congenital nephrotic syndrome.

Authors:  L Q Wu; J J Hu; J J Xue; D S Liang
Journal:  Genet Mol Res       Date:  2011-10-18

2.  Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome.

Authors:  O Beltcheva; P Martin; U Lenkkeri; K Tryggvason
Journal:  Hum Mutat       Date:  2001-05       Impact factor: 4.878

3.  Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome.

Authors:  L Liu; S C Doné; J Khoshnoodi; A Bertorello; J Wartiovaara; P O Berggren; K Tryggvason
Journal:  Hum Mol Genet       Date:  2001-11-01       Impact factor: 6.150

4.  Congenital nephrotic syndrome (NPHS1): features resulting from different mutations in Finnish patients.

Authors:  J Patrakka; M Kestilä; J Wartiovaara; V Ruotsalainen; P Tissari; U Lenkkeri; M Männikkö; I Visapää; C Holmberg; J Rapola; K Tryggvason; H Jalanko
Journal:  Kidney Int       Date:  2000-09       Impact factor: 10.612

5.  A method and server for predicting damaging missense mutations.

Authors:  Ivan A Adzhubei; Steffen Schmidt; Leonid Peshkin; Vasily E Ramensky; Anna Gerasimova; Peer Bork; Alexey S Kondrashov; Shamil R Sunyaev
Journal:  Nat Methods       Date:  2010-04       Impact factor: 28.547

6.  Bigenic heterozygosity and the development of steroid-resistant focal segmental glomerulosclerosis.

Authors:  Marije Löwik; Elena Levtchenko; Dineke Westra; Patricia Groenen; Eric Steenbergen; Jan Weening; Marc Lilien; Leo Monnens; Lambert van den Heuvel
Journal:  Nephrol Dial Transplant       Date:  2008-04-28       Impact factor: 5.992

7.  Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.

Authors:  Saskia F Heeringa; Christopher N Vlangos; Gil Chernin; Bernward Hinkes; Rasheed Gbadegesin; Jinhong Liu; Bethan E Hoskins; Fatih Ozaltin; Friedhelm Hildebrandt
Journal:  Nephrol Dial Transplant       Date:  2008-05-23       Impact factor: 5.992

8.  Mutation analysis of NPHS1 in a worldwide cohort of congenital nephrotic syndrome patients.

Authors:  Bugsu Ovunc; Shazia Ashraf; Virginia Vega-Warner; Detlef Bockenhauer; Neveen A Soliman Elshakhs; Mark Joseph; Friedhelm Hildebrandt
Journal:  Nephron Clin Pract       Date:  2012-05-11

9.  Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome.

Authors:  M Kestilä; U Lenkkeri; M Männikkö; J Lamerdin; P McCready; H Putaala; V Ruotsalainen; T Morita; M Nissinen; R Herva; C E Kashtan; L Peltonen; C Holmberg; A Olsen; K Tryggvason
Journal:  Mol Cell       Date:  1998-03       Impact factor: 17.970

10.  Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).

Authors:  Dominik S Schoeb; Gil Chernin; Saskia F Heeringa; Verena Matejas; Susanne Held; Virginia Vega-Warner; Detlef Bockenhauer; Christopher N Vlangos; Khemchand N Moorani; Thomas J Neuhaus; Jameela A Kari; James MacDonald; Pawaree Saisawat; Shazia Ashraf; Bugsu Ovunc; Martin Zenker; Friedhelm Hildebrandt
Journal:  Nephrol Dial Transplant       Date:  2010-02-18       Impact factor: 5.992
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  1 in total

1.  A comprehensive analysis of NPHS1 gene mutations in patients with sporadic focal segmental glomerulosclerosis.

Authors:  Ling Zhuo; Lulin Huang; Zhenglin Yang; Guisen Li; Li Wang
Journal:  BMC Med Genet       Date:  2019-06-19       Impact factor: 2.103
  1 in total

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