Literature DB >> 15856328

Liddle syndrome caused by P616R mutation of the epithelial sodium channel beta subunit.

Andrzej Ciechanowicz1, Zdenek Dolezel, Grzegorz Placha, Jiri Starha, Jarosław Góra, Zbigniew Gaciong, Andrzej Brodkiewicz, Grazyna Adler.   

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Year:  2005        PMID： 15856328     DOI： 10.1007/s00467-004-1793-5

Source DB:  PubMed          Journal:  Pediatr Nephrol        ISSN： 0931-041X            Impact factor:   3.714


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  7 in total

1.  Two sporadic cases of Liddle's syndrome caused by De novo ENaC mutations.

Authors:  Y Yamashita; M Koga; Y Takeda; N Enomoto; S Uchida; K Hashimoto; S Yamano; K Dohi; F Marumo; S Sasaki
Journal:  Am J Kidney Dis       Date:  2001-03       Impact factor: 8.860

2.  The rare cause of hypokalaemia.

Authors:  Z Dolezel; L Kopecna; J Starha
Journal:  Nephrol Dial Transplant       Date:  2000-09       Impact factor: 5.992

3.  Identification of a PY motif in the epithelial Na channel subunits as a target sequence for mutations causing channel activation found in Liddle syndrome.

Authors:  L Schild; Y Lu; I Gautschi; E Schneeberger; R P Lifton; B C Rossier
Journal:  EMBO J       Date:  1996-05-15       Impact factor: 11.598

4.  Diagnosis of Liddle syndrome by genetic analysis of beta and gamma subunits of epithelial sodium channel--a report of five affected family members.

Authors:  P J Gao; K X Zhang; D L Zhu; X He; Z Y Han; Y M Zhan; L W Yang
Journal:  J Hypertens       Date:  2001-05       Impact factor: 4.844

5.  Genetic analysis of the epithelial sodium channel in Liddle's syndrome.

Authors:  Y Uehara; M Sasaguri; A Kinoshita; E Tsuji; H Kiyose; H Taniguchi; K Noda; M Ideishi; J Inoue; K Tomita; K Arakawa
Journal:  J Hypertens       Date:  1998-08       Impact factor: 4.844

6.  A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity.

Authors:  J H Hansson; L Schild; Y Lu; T A Wilson; I Gautschi; R Shimkets; C Nelson-Williams; B C Rossier; R P Lifton
Journal:  Proc Natl Acad Sci U S A       Date:  1995-12-05       Impact factor: 11.205

Review 7.  Present status of genetic mechanisms in hypertension.

Authors:  Friedrich C Luft
Journal:  Med Clin North Am       Date:  2004-01       Impact factor: 5.456
  7 in total
  4 in total

Review 1.  Liddle syndrome in a Serbian family and literature review of underlying mutations.

Authors:  Radovan Bogdanović; Vladimir Kuburović; Nataša Stajić; Sadaf S Mughal; Alina Hilger; Sanja Ninić; Sergej Prijić; Michael Ludwig
Journal:  Eur J Pediatr       Date:  2011-09-29       Impact factor: 3.183

2.  Phenotype-genotype analysis in two Chinese families with Liddle syndrome.

Authors:  Ling Gong; Jinxing Chen; Liying Shao; Weihua Song; Rutai Hui; Yibo Wang
Journal:  Mol Biol Rep       Date:  2014-01-29       Impact factor: 2.316

3.  Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel β-subunit in a case of early-onset phenotype of Liddle syndrome.

Authors:  Linda M Polfus; Eric Boerwinkle; Richard A Gibbs; Ginger Metcalf; Donna Muzny; Narayanan Veeraraghavan; Megan Grove; Sanjay Shete; Stephanie Wallace; Dianna Milewicz; Neil Hanchard; James R Lupski; Syed Shahrukh Hashmi; Monesha Gupta-Malhotra
Journal:  Cold Spring Harb Mol Case Stud       Date:  2016-11

Review 4.  Liddle Syndrome: Review of the Literature and Description of a New Case.

Authors:  Martina Tetti; Silvia Monticone; Jacopo Burrello; Patrizia Matarazzo; Franco Veglio; Barbara Pasini; Xavier Jeunemaitre; Paolo Mulatero
Journal:  Int J Mol Sci       Date:  2018-03-11       Impact factor: 5.923
  4 in total

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