Literature DB >> 24619144

Clinical utility gene card for: Dent disease (Dent-1 and Dent-2).

Michael Ludwig1, Elena Levtchenko2, Arend Bökenkamp3.   

Abstract

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Year:  2014        PMID： 24619144      PMCID： PMC4200440          DOI： 10.1038/ejhg.2014.33

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  19 in total

1.  Characterisation of renal chloride channel, CLCN5, mutations in hypercalciuric nephrolithiasis (kidney stones) disorders.

Authors:  S E Lloyd; W Gunther; S H Pearce; A Thomson; M L Bianchi; M Bosio; I W Craig; S E Fisher; S J Scheinman; O Wrong; T J Jentsch; R V Thakker
Journal:  Hum Mol Genet       Date:  1997-08       Impact factor: 6.150

2.  Mutations of CLCN5 in Japanese children with idiopathic low molecular weight proteinuria, hypercalciuria and nephrocalcinosis.

Authors:  N Akuta; S E Lloyd; T Igarashi; H Shiraga; T Matsuyama; S Yokoro; J P Cox; R V Thakker
Journal:  Kidney Int       Date:  1997-10       Impact factor: 10.612

3.  Functional evaluation of Dent's disease-causing mutations: implications for ClC-5 channel trafficking and internalization.

Authors:  Michael Ludwig; Jolanta Doroszewicz; Hannsjörg W Seyberth; Arend Bökenkamp; Bernd Balluch; Matti Nuutinen; Boris Utsch; Siegfried Waldegger
Journal:  Hum Genet       Date:  2005-05-14       Impact factor: 4.132

4.  Hypercalciuria in patients with CLCN5 mutations.

Authors:  Michael Ludwig; Boris Utsch; Bernd Balluch; Stefan Fründ; Eberhard Kuwertz-Bröking; Arend Bökenkamp
Journal:  Pediatr Nephrol       Date:  2006-06-29       Impact factor: 3.714

5.  High citrate diet delays progression of renal insufficiency in the ClC-5 knockout mouse model of Dent's disease.

Authors:  Valeriu Cebotaru; Sadhana Kaul; Olivier Devuyst; Hui Cai; Lorraine Racusen; William B Guggino; Sandra E Guggino
Journal:  Kidney Int       Date:  2005-08       Impact factor: 10.612

6.  Dent Disease with mutations in OCRL1.

Authors:  Richard R Hoopes; Antony E Shrimpton; Stephen J Knohl; Paul Hueber; Bernd Hoppe; Janos Matyus; Ari Simckes; Velibor Tasic; Burkhard Toenshoff; Sharon F Suchy; Robert L Nussbaum; Steven J Scheinman
Journal:  Am J Hum Genet       Date:  2004-12-30       Impact factor: 11.025

7.  Evidence for genetic heterogeneity in Dent's disease.

Authors:  Richard R Hoopes; Khalid M Raja; April Koich; Paul Hueber; Robert Reid; Stephen J Knohl; Steven J Scheinman
Journal:  Kidney Int       Date:  2004-05       Impact factor: 10.612

8.  Responsiveness of hypercalciuria to thiazide in Dent's disease.

Authors:  Khalid A Raja; Scott Schurman; Richard G D'mello; Douglas Blowey; Paul Goodyer; Scott Van Why; Robert J Ploutz-Snyder; John Asplin; Steven J Scheinman
Journal:  J Am Soc Nephrol       Date:  2002-12       Impact factor: 10.121

9.  A common molecular basis for three inherited kidney stone diseases.

Authors:  S E Lloyd; S H Pearce; S E Fisher; K Steinmeyer; B Schwappach; S J Scheinman; B Harding; A Bolino; M Devoto; P Goodyer; S P Rigden; O Wrong; T J Jentsch; I W Craig; R V Thakker
Journal:  Nature       Date:  1996-02-01       Impact factor: 49.962

10.  Novel truncating mutations in the ClC-5 chloride channel gene in patients with Dent's disease.

Authors:  Irma Carballo-Trujillo; Victor Garcia-Nieto; Francisco J Moya-Angeler; Montserrat Antón-Gamero; Cesar Loris; Sebastián Méndez-Alvarez; Felix Claverie-Martin
Journal:  Nephrol Dial Transplant       Date:  2003-04       Impact factor: 5.992
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  4 in total

1.  Clinical utility gene card for: Lowe syndrome.

Authors:  Arend Bökenkamp; Elena Levtchenko; Florian Recker; Michael Ludwig
Journal:  Eur J Hum Genet       Date:  2014-09-03       Impact factor: 4.246

2.  Dent disease in Poland: what we have learned so far?

Authors:  Marcin Zaniew; Małgorzata Mizerska-Wasiak; Iga Załuska-Leśniewska; Piotr Adamczyk; Katarzyna Kiliś-Pstrusińska; Adam Haliński; Jan Zawadzki; Beata S Lipska-Ziętkiewicz; Krzysztof Pawlaczyk; Przemysław Sikora; Michael Ludwig; Maria Szczepańska
Journal:  Int Urol Nephrol       Date:  2017-08-16       Impact factor: 2.370

3.  Cystinosis induced by CTNS gene mutation: a rare disease study.

Authors:  Xin Wang; Bi-Li Zhang; Xiao-Ying Chen; Zhen Guo
Journal:  Zhongguo Dang Dai Er Ke Za Zhi       Date:  2021-12-15

Review 4.  Nephrolithiasis and Nephrocalcinosis in Childhood-Risk Factor-Related Current and Future Treatment Options.

Authors:  Alexander Weigert; Bernd Hoppe
Journal:  Front Pediatr       Date:  2018-04-12       Impact factor: 3.418
  4 in total

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