Literature DB >> 18003771

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

Martin Konrad1, 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.   

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Year:  2007        PMID： 18003771      PMCID： PMC2391030          DOI： 10.1681/ASN.2007060709

Source DB:  PubMed          Journal:  J Am Soc Nephrol        ISSN： 1046-6673            Impact factor:   10.121


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  41 in total

1.  Paracellular channels!

Authors:  V Wong; D A Goodenough
Journal:  Science       Date:  1999-07-02       Impact factor: 47.728

2.  Claudin multigene family encoding four-transmembrane domain protein components of tight junction strands.

Authors:  K Morita; M Furuse; K Fujimoto; S Tsukita
Journal:  Proc Natl Acad Sci U S A       Date:  1999-01-19       Impact factor: 11.205

3.  Urinary phosphate/creatinine, calcium/creatinine, and magnesium/creatinine ratios in a healthy pediatric population.

Authors:  V Matos; G van Melle; O Boulat; M Markert; C Bachmann; J P Guignard
Journal:  J Pediatr       Date:  1997-08       Impact factor: 4.406

Review 4.  Hypomagnesaemia-hypercalciuria-nephrocalcinosis: a report of nine cases and a review.

Authors:  V Benigno; C S Canonica; A Bettinelli; R O von Vigier; A C Truttmann; M G Bianchetti
Journal:  Nephrol Dial Transplant       Date:  2000-05       Impact factor: 5.992

5.  Clinical presentation and outcome in primary familial hypomagnesaemia.

Authors:  H Shalev; M Phillip; A Galil; R Carmi; D Landau
Journal:  Arch Dis Child       Date:  1998-02       Impact factor: 3.791

Review 6.  Tight junction biology and kidney dysfunction.

Authors:  David B N Lee; Edmund Huang; Harry J Ward
Journal:  Am J Physiol Renal Physiol       Date:  2006-01

Review 7.  Hypomagnesaemia of hereditary renal origin.

Authors:  J Rodríguez-Soriano; A Vallo; M García-Fuentes
Journal:  Pediatr Nephrol       Date:  1987-07       Impact factor: 3.714

8.  Transgenic RNAi depletion of claudin-16 and the renal handling of magnesium.

Authors:  Jianghui Hou; Qixian Shan; Tong Wang; Antonio S Gomes; QingShang Yan; David L Paul; Markus Bleich; Daniel A Goodenough
Journal:  J Biol Chem       Date:  2007-04-18       Impact factor: 5.157

9.  Familial hypomagnesemia with hypercalciuria and nephrocalcinosis.

Authors:  M Praga; J Vara; E González-Parra; A Andrés; C Alamo; A Araque; A Ortiz; J L Rodicio
Journal:  Kidney Int       Date:  1995-05       Impact factor: 10.612

10.  Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption.

Authors:  D B Simon; Y Lu; K A Choate; H Velazquez; E Al-Sabban; M Praga; G Casari; A Bettinelli; G Colussi; J Rodriguez-Soriano; D McCredie; D Milford; S Sanjad; R P Lifton
Journal:  Science       Date:  1999-07-02       Impact factor: 47.728
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  49 in total

1.  Familial hypomagnesemia with hypercalciuria and nephrocalcinosis in three siblings having the same genetic lesion but different clinical presentations.

Authors:  Hilary H Seeley; Lindsey A Loomba-Albrecht; Mato Nagel; Lavjay Butani; Andrew A Bremer
Journal:  World J Pediatr       Date:  2011-06-01       Impact factor: 2.764

2.  The yin and yang of claudin-14 function in human diseases.

Authors:  Jianghui Hou
Journal:  Ann N Y Acad Sci       Date:  2012-07       Impact factor: 5.691

3.  Renal, ocular, and neuromuscular involvements in patients with CLDN19 mutations.

Authors:  Stanislas Faguer; Dominique Chauveau; Pascal Cintas; Ivan Tack; Olivier Cointault; Lionel Rostaing; Rosa Vargas-Poussou; David Ribes
Journal:  Clin J Am Soc Nephrol       Date:  2010-10-28       Impact factor: 8.237

Review 4.  Function and regulation of claudins in the thick ascending limb of Henle.

Authors:  Dorothee Günzel; Alan S L Yu
Journal:  Pflugers Arch       Date:  2008-09-16       Impact factor: 3.657

Review 5.  Biology of claudins.

Authors:  Susanne Angelow; Robert Ahlstrom; Alan S L Yu
Journal:  Am J Physiol Renal Physiol       Date:  2008-05-14

6.  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

7.  Phosphorylated claudin-16 interacts with Trpv5 and regulates transcellular calcium transport in the kidney.

Authors:  Jianghui Hou; Vijay Renigunta; Mingzhu Nie; Abby Sunq; Nina Himmerkus; Catarina Quintanova; Markus Bleich; Aparna Renigunta; Matthias Tilmann Florian Wolf
Journal:  Proc Natl Acad Sci U S A       Date:  2019-09-05       Impact factor: 11.205

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

Authors:  Félix Claverie-Martín; Rosa Vargas-Poussou; Dominik Müller; Víctor García-Nieto
Journal:  Eur J Hum Genet       Date:  2014-09-03       Impact factor: 4.246

9.  Bilateral slipped capital femoral epiphysis in a male adolescent with familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC), chronic renal failure, and severe hyperparathyroidism.

Authors:  Przemysław Sikora; Małgorzata Zajączkowska; Tomasz Raganowicz; Halina Borzęcka; Andrzej Gregosiewicz; Martin Konrad
Journal:  Eur J Pediatr       Date:  2013-03-03       Impact factor: 3.183

Review 10.  Pediatric renal diseases in the Kingdom of Saudi Arabia.

Authors:  Jameela Abdulaziz Kari
Journal:  World J Pediatr       Date:  2012-08-12       Impact factor: 2.764
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