Literature DB >> 25182135

Clinical utility gene card for: Familial hypomagnesemia with hypercalciuria and nephrocalcinosis with/without severe ocular involvement.

Félix Claverie-Martín1, Rosa Vargas-Poussou2, Dominik Müller3, Víctor García-Nieto4.   

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Year:  2014        PMID： 25182135      PMCID： PMC4795041          DOI： 10.1038/ejhg.2014.176

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


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  18 in total

1.  A novel claudin-16 mutation, severe bone disease, and nephrocalcinosis.

Authors:  Luxme Nadarajah; Maryam Khosravi; Simona Dumitriu; Enriko Klootwijk; Robert Kleta; Muhammad M Yaqoob; Stephen B Walsh
Journal:  Lancet       Date:  2014-01-04       Impact factor: 79.321

2.  Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: phenotype-genotype correlation and outcome in 32 patients with CLDN16 or CLDN19 mutations.

Authors:  Astrid Godron; Jérôme Harambat; Valérie Boccio; Anne Mensire; Adrien May; Claire Rigothier; Lionel Couzi; Benoit Barrou; Michel Godin; Dominique Chauveau; Stanislas Faguer; Marion Vallet; Pierre Cochat; Philippe Eckart; Geneviève Guest; Vincent Guigonis; Pascal Houillier; Anne Blanchard; Xavier Jeunemaitre; Rosa Vargas-Poussou
Journal:  Clin J Am Soc Nephrol       Date:  2012-03-15       Impact factor: 8.237

3.  Clinical and molecular characterization of Turkish patients with familial hypomagnesaemia: novel mutations in TRPM6 and CLDN16 genes.

Authors:  Tulay Guran; Teoman Akcay; Abdullah Bereket; Zeynep Atay; Serap Turan; Lea Haisch; Martin Konrad; Karl P Schlingmann
Journal:  Nephrol Dial Transplant       Date:  2011-06-09       Impact factor: 5.992

4.  Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement.

Authors:  Martin Konrad; Andre Schaller; Dominik Seelow; Amit V Pandey; Siegfried Waldegger; Annegret Lesslauer; Helga Vitzthum; Yoshiro Suzuki; John M Luk; Christian Becker; Karl P Schlingmann; Marcel Schmid; Juan Rodriguez-Soriano; Gema Ariceta; Francisco Cano; Ricardo Enriquez; Harald Juppner; Sevcan A Bakkaloglu; Matthias A Hediger; Sabina Gallati; Stephan C F Neuhauss; Peter Nurnberg; Stefanie Weber
Journal:  Am J Hum Genet       Date:  2006-09-19       Impact factor: 11.025

5.  Mutation in the tight-junction gene claudin 19 (CLDN19) and familial hypomagnesemia, hypercalciuria, nephrocalcinosis (FHHNC) and severe ocular disease.

Authors:  Muhammad Naeem; Sofia Hussain; Naureen Akhtar
Journal:  Am J Nephrol       Date:  2011-07-26       Impact factor: 3.754

6.  A novel mutation of the claudin 16 gene in familial hypomagnesemia with hypercalciuria and nephrocalcinosis mimicking rickets.

Authors:  C S Kasapkara; L Tumer; I Okur; A Hasanoglu
Journal:  Genet Couns       Date:  2011

7.  Unusual clinical presentation and possible rescue of a novel claudin-16 mutation.

Authors:  Dominik Müller; P Jaya Kausalya; Detlef Bockenhauer; Julia Thumfart; Iwan C Meij; Michael J Dillon; William van't Hoff; Walter Hunziker
Journal:  J Clin Endocrinol Metab       Date:  2006-05-16       Impact factor: 5.958

8.  CLDN16 genotype predicts renal decline in familial hypomagnesemia with hypercalciuria and nephrocalcinosis.

Authors:  Martin Konrad; Jianghui Hou; Stefanie Weber; Jörg Dötsch; Jameela A Kari; Tomas Seeman; Eberhard Kuwertz-Bröking; Amira Peco-Antic; Velibor Tasic; Katalin Dittrich; Hammad O Alshaya; Rodo O von Vigier; Sabina Gallati; Daniel A Goodenough; André Schaller
Journal:  J Am Soc Nephrol       Date:  2007-11-14       Impact factor: 10.121

9.  Claudin-16 and claudin-19 interact and form a cation-selective tight junction complex.

Authors:  Jianghui Hou; Aparna Renigunta; Martin Konrad; Antonio S Gomes; Eveline E Schneeberger; David L Paul; Siegfried Waldegger; Daniel A Goodenough
Journal:  J Clin Invest       Date:  2008-02       Impact factor: 14.808

10.  A novel claudin 16 mutation associated with childhood hypercalciuria abolishes binding to ZO-1 and results in lysosomal mistargeting.

Authors:  Dominik Müller; P Jaya Kausalya; Felix Claverie-Martin; Iwan C Meij; Paul Eggert; Victor Garcia-Nieto; Walter Hunziker
Journal:  Am J Hum Genet       Date:  2003-11-18       Impact factor: 11.025
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  5 in total

Review 1.  [Rare metabolic disorders and urolithiasis].

Authors:  C Fisang; N Laube
Journal:  Urologe A       Date:  2017-07       Impact factor: 0.639

Review 2.  Claudins in Renal Physiology and Pathology.

Authors:  Caroline Prot-Bertoye; Pascal Houillier
Journal:  Genes (Basel)       Date:  2020-03-10       Impact factor: 4.096

Review 3.  Clinical and genetic approach to renal hypomagnesemia.

Authors:  Min-Hua Tseng; Martin Konrad; Jhao-Jhuang Ding; Shih-Hua Lin
Journal:  Biomed J       Date:  2021-11-10       Impact factor: 7.892

4.  Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis: clinical and molecular characteristics.

Authors:  Felix Claverie-Martin
Journal:  Clin Kidney J       Date:  2015-09-01

5.  Novel compound heterozygous mutations of CLDN16 in a patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.

Authors:  Alejandro García-Castaño; Ana Perdomo-Ramirez; Mònica Vall-Palomar; Elena Ramos-Trujillo; Leire Madariaga; Gema Ariceta; Felix Claverie-Martin
Journal:  Mol Genet Genomic Med       Date:  2020-09-01       Impact factor: 2.183
  5 in total

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