Literature DB >> 15690192

A novel epithelial sodium channel beta-subunit mutation associated with hypertensive Liddle syndrome.

Michael Freundlich1, Michael Ludwig.   

Abstract

Low-renin hypertension responsive to amiloride-thiazide therapy in a 4-year-old Afro-Haitian girl suggested Liddle syndrome. Urine steroid profiling substantiated the diagnosis and DNA analysis of the epithelial sodium channel (ENaC) revealed a novel heterozygous beta ENaC mutation in the patient and in her hypertensive father. Liddle syndrome should be considered as a cause of hypertension in young children particularly with suppressed renin activity.

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Year:  2005        PMID： 15690192     DOI： 10.1007/s00467-004-1751-2

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


  20 in total

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Journal:  J Pediatr       Date:  2001-05       Impact factor: 4.406

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Journal:  J Hypertens       Date:  2002-12       Impact factor: 4.844

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Journal:  J Hypertens       Date:  2001-05       Impact factor: 4.844

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Journal:  Semin Nephrol       Date:  1996-03       Impact factor: 5.299

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Journal:  Pediatrics       Date:  1987-01       Impact factor: 7.124

8.  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.

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Journal:  Pediatr Nephrol       Date:  1994-04       Impact factor: 3.714

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Authors:  R A Shimkets; D G Warnock; C M Bositis; C Nelson-Williams; J H Hansson; M Schambelan; J R Gill; S Ulick; R V Milora; J W Findling
Journal:  Cell       Date:  1994-11-04       Impact factor: 41.582
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  9 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

Review 2.  Proteases, cystic fibrosis and the epithelial sodium channel (ENaC).

Authors:  P H Thibodeau; M B Butterworth
Journal:  Cell Tissue Res       Date:  2012-05-22       Impact factor: 5.249

3.  Three Reportedly Unrelated Families With Liddle Syndrome Inherited From a Common Ancestor.

Authors:  Luca Pagani; Yoan Diekmann; Marco Sazzini; Sara De Fanti; Maurizio Rondinelli; Enrico Farnetti; Bruno Casali; Amelia Caretto; Francesca Novara; Orsetta Zuffardi; Paolo Garagnani; Franco Mantero; Mark G Thomas; Donata Luiselli; Ermanno Rossi
Journal:  Hypertension       Date:  2017-12-11       Impact factor: 10.190

4.  Stimulation of ENaC activity by rosiglitazone is PPARγ-dependent and correlates with SGK1 expression increase.

Authors:  Stephane Renauld; Karine Tremblay; Siham Ait-Benichou; Maxime Simoneau-Roy; Hugo Garneau; Olivier Staub; Ahmed Chraïbi
Journal:  J Membr Biol       Date:  2010-08-26       Impact factor: 1.843

5.  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

6.  Mutation analysis of SCNN1B in a family with Liddle's syndrome.

Authors:  Weiqing Wang; Weiwei Zhou; Lei Jiang; Bin Cui; Lei Ye; Tingwei Su; Jiguang Wang; Xiaoying Li; Guang Ning
Journal:  Endocrine       Date:  2006-06       Impact factor: 3.925

7.  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 8.  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

9.  Genetic screening for monogenic hypertension in hypertensive individuals in a clinical setting.

Authors:  Minghui Bao; Ping Li; Qifu Li; Hui Chen; Ying Zhong; Shuangyue Li; Ling Jin; Wenjie Wang; Zhenzhen Chen; Jiuchang Zhong; Bin Geng; Yuxin Fan; Xinchun Yang; Jun Cai
Journal:  J Med Genet       Date:  2020-06-19       Impact factor: 6.318
  9 in total

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