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Literature DB >> 24371179

Novel and known nephrin gene (NPHS1) mutations in two Greek cases with congenital nephrotic syndrome including a complex genotype.

Irene Fylaktou¹, Spyridon Megremis, Andromachi Mitsioni, Sofia Kitsiou-Tzeli, Konstantina Kosma, Maria Bitsori, Constantinos J Stefanidis, Emmanuel Kanavakis, Joanne Traeger Synodinos.

Abstract

Entities: Disease Gene Mutation

Mesh：

Substances：
Membrane Proteins
nephrin

Year: 2013 PMID： 24371179 DOI： 10.1007/s12041-013-0290-7

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

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17 in total

1. Screening human genes for small alterations performing an enzymatic cleavage mismatched analysis (ECMA) protocol.

Authors: Nikolaos Vogiatzakis; Kyriaki Kekou; Christalena Sophocleous; Sophia Kitsiou; Ariadni Mavrou; Chrisa Bakoula; Emmanouel Kanavakis
Journal: Mol Biotechnol Date: 2007-08-03 Impact factor: 2.695

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. Predisposition to relapsing nephrotic syndrome by a nephrin mutation that interferes with assembly of functioning microdomains.

Authors: Akemi Shono; Hiroyasu Tsukaguchi; Akiko Kitamura; Ryugo Hiramoto; Xiao-Song Qin; Toshio Doi; Kazumoto Iijima
Journal: Hum Mol Genet Date: 2009-05-14 Impact factor: 6.150

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. Nucleotide variations in the NPHS2 gene in Greek children with steroid-resistant nephrotic syndrome.

Authors: Spyridon Megremis; Andromachi Mitsioni; Artemis G Mitsioni; Irene Fylaktou; Sofia Kitsiou-Tzelli; Constantinos J Stefanidis; Emmanuel Kanavakis; Joanne Traeger-Synodinos
Journal: Genet Test Mol Biomarkers Date: 2009-04

7. Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome.

Authors: Aurélie Philippe; Fabien Nevo; Ernie L Esquivel; Dalia Reklaityte; Olivier Gribouval; Marie-Josèphe Tête; Chantal Loirat; Jacques Dantal; Michel Fischbach; Claire Pouteil-Noble; Stéphane Decramer; Martin Hoehne; Thomas Benzing; Marina Charbit; Patrick Niaudet; Corinne Antignac
Journal: J Am Soc Nephrol Date: 2008-07-09 Impact factor: 10.121

8. Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis.

Authors: Sheila Santín; Rafael García-Maset; Patricia Ruíz; Isabel Giménez; Isabel Zamora; Antonia Peña; Alvaro Madrid; Juan A Camacho; Gloria Fraga; Ana Sánchez-Moreno; Maria Angeles Cobo; Carmen Bernis; Alberto Ortiz; Augusto Luque de Pablos; Guillem Pintos; Maria Luisa Justa; Emilia Hidalgo-Barquero; Patricia Fernández-Llama; José Ballarín; Elisabet Ars; Roser Torra
Journal: Kidney Int Date: 2009-10-07 Impact factor: 10.612