Literature DB >> 11377970

Congenital nephrotic syndromes.

J Khoshnoodi1, K Tryggvason.   

Abstract

Many acquired and familial renal diseases in man lead to kidney dysfunction and nephrotic syndrome. These diseases share a common pathological fate in the form of glomerular dysfunction and proteinuria. Classification of the disease is difficult because the onset of pathological appearance in congenital nephrotic syndrome (CNS) varies considerably. Recently, classification has been aided by applying molecular genetics to identify genes involved in the pathogenesis of proteinuria. Light has also been shed on the biology and mechanisms of glomerular filtration and the molecular pathogenesis of CNS.

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Year:  2001        PMID: 11377970     DOI: 10.1016/s0959-437x(00)00197-0

Source DB:  PubMed          Journal:  Curr Opin Genet Dev        ISSN: 0959-437X            Impact factor:   5.578


  8 in total

1.  Thrombocytopenia and kidney disease in mice with a mutation in the C1galt1 gene.

Authors:  Warren S Alexander; Elizabeth M Viney; Jian-Guo Zhang; Donald Metcalf; Maria Kauppi; Craig D Hyland; Marina R Carpinelli; William Stevenson; Ben A Croker; Adrienne A Hilton; Sarah Ellis; Carly Selan; Harshal H Nandurkar; Christopher C Goodnow; Benjamin T Kile; Nicos A Nicola; Andrew W Roberts; Douglas J Hilton
Journal:  Proc Natl Acad Sci U S A       Date:  2006-10-24       Impact factor: 11.205

2.  Respiratory chain deficiency presenting as congenital nephrotic syndrome.

Authors:  Alice Goldenberg; Linh Huynh Ngoc; Marie-Christine Thouret; Valérie Cormier-Daire; Marie-France Gagnadoux; Dominique Chrétien; Catherine Lefrançois; Vanna Geromel; Agnès Rötig; Pierre Rustin; Arnold Munnich; Véronique Paquis; Corinne Antignac; Marie-Claire Gubler; Patrick Niaudet; Pascale de Lonlay; Etienne Bérard
Journal:  Pediatr Nephrol       Date:  2005-01-29       Impact factor: 3.714

3.  Glomerular structural factors in progression of congenital nephrotic syndrome.

Authors:  Abhay N Vats; Brian Costello; Michael Mauer
Journal:  Pediatr Nephrol       Date:  2003-02-26       Impact factor: 3.714

4.  Nephrin promotes cell-cell adhesion through homophilic interactions.

Authors:  Jamshid Khoshnoodi; Kristmundur Sigmundsson; Lars-Göran Ofverstedt; Ulf Skoglund; Björn Obrink; Jorma Wartiovaara; Karl Tryggvason
Journal:  Am J Pathol       Date:  2003-12       Impact factor: 4.307

Review 5.  "Treasure your exceptions": recent advances in molecular genetics of glomerular disease.

Authors:  Andrzej Ciechanowicz; Andrzej Brodkiewicz; Agnieszka Bińczak-Kuleta; Miłosz Parczewski; Stanłisaw Czekalski
Journal:  J Appl Genet       Date:  2008       Impact factor: 3.240

6.  Report of novel genetic variation in NPHS2 gene associated with idiopathic nephrotic syndrome in South Indian children.

Authors:  Mohanapriya Chinambedu Dhandapani; Vettriselvi Venkatesan; Nammalwar Bollam Rengaswamy; Kalpana Gowrishankar; Sudha Ekambaram; Prabha Sengutavan; Venkatachalam Perumal
Journal:  Clin Exp Nephrol       Date:  2016-01-28       Impact factor: 2.801

7.  Respiratory-chain deficiency presenting as diffuse mesangial sclerosis with NPHS3 mutation.

Authors:  Esra Baskin; Umut Selda Bayrakci; Füsun Alehan; Handan Ozdemir; Ayse Oner; Rita Horvath; Virginia Vega-Warner; Friedhelm Hildebrandt; Fatih Ozaltin
Journal:  Pediatr Nephrol       Date:  2011-03-02       Impact factor: 3.714

8.  Molecular and genetic basis of inherited nephrotic syndrome.

Authors:  Maddalena Gigante; Matteo Piemontese; Loreto Gesualdo; Achille Iolascon; Filippo Aucella
Journal:  Int J Nephrol       Date:  2011-09-06
  8 in total

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