Literature DB >> 10952627

Molecular developments in renal tubulopathies.

W G Van'T Hoff1.   

Abstract

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Year:  2000        PMID： 10952627      PMCID： PMC1718474          DOI： 10.1136/adc.83.3.189

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


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  16 in total

1.  Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III.

Authors:  D B Simon; R S Bindra; T A Mansfield; C Nelson-Williams; E Mendonca; R Stone; S Schurman; A Nayir; H Alpay; A Bakkaloglu; J Rodriguez-Soriano; J M Morales; S A Sanjad; C M Taylor; D Pilz; A Brem; H Trachtman; W Griswold; G A Richard; E John; R P Lifton
Journal:  Nat Genet       Date:  1997-10       Impact factor: 38.330

2.  Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene.

Authors:  L J Bruce; D L Cope; G K Jones; A E Schofield; M Burley; S Povey; R J Unwin; O Wrong; M J Tanner
Journal:  J Clin Invest       Date:  1997-10-01       Impact factor: 14.808

3.  Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK.

Authors:  D B Simon; F E Karet; J Rodriguez-Soriano; J H Hamdan; A DiPietro; H Trachtman; S A Sanjad; R P Lifton
Journal:  Nat Genet       Date:  1996-10       Impact factor: 38.330

Review 4.  Bartter and related syndromes: the puzzle is almost solved.

Authors:  J Rodríguez-Soriano
Journal:  Pediatr Nephrol       Date:  1998-05       Impact factor: 3.714

5.  Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome.

Authors:  R Santer; R Schneppenheim; A Dombrowski; H Götze; B Steinmann; J Schaub
Journal:  Nat Genet       Date:  1997-11       Impact factor: 38.330

6.  A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis.

Authors:  M Town; G Jean; S Cherqui; M Attard; L Forestier; S A Whitmore; D F Callen; O Gribouval; M Broyer; G P Bates; W van't Hoff; C Antignac
Journal:  Nat Genet       Date:  1998-04       Impact factor: 38.330

7.  Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2.

Authors:  D B Simon; F E Karet; J M Hamdan; A DiPietro; S A Sanjad; R P Lifton
Journal:  Nat Genet       Date:  1996-06       Impact factor: 38.330

8.  Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1.

Authors:  S S Chang; S Grunder; A Hanukoglu; A Rösler; P M Mathew; I Hanukoglu; L Schild; Y Lu; R A Shimkets; C Nelson-Williams; B C Rossier; R P Lifton
Journal:  Nat Genet       Date:  1996-03       Impact factor: 38.330

Review 9.  Molecular biology of hypophosphataemic rickets and oncogenic osteomalacia.

Authors:  P S Rowe
Journal:  Hum Genet       Date:  1994-11       Impact factor: 4.132

10.  Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene.

Authors:  A F van Lieburg; M A Verdijk; V V Knoers; A J van Essen; W Proesmans; R Mallmann; L A Monnens; B A van Oost; C H van Os; P M Deen
Journal:  Am J Hum Genet       Date:  1994-10       Impact factor: 11.025
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  5 in total

1.  Fanconi-Bickel syndrome as an example of marked allelic heterogeneity.

Authors:  Mohammad Al-Haggar
Journal:  World J Nephrol       Date:  2012-06-06

2.  Helping nephrologists find answers: hyperinsulinism and tubular dysfunction: Answers.

Authors:  Laura Betcherman; Mathieu Lemaire; Christoph Licht; David Chitayat; Jennifer Harrington; Damien Noone
Journal:  Pediatr Nephrol       Date:  2019-09-16       Impact factor: 3.714

3.  A new mutation in two siblings with cystinosis presenting with Bartter syndrome.

Authors:  Marco Pennesi; Federico Marchetti; Sergio Crovella; Francesca Boaretto; Laura Travan; Marzia Lazzerini; Elena Neri; Alessandro Ventura
Journal:  Pediatr Nephrol       Date:  2004-12-04       Impact factor: 3.714

Review 4.  Advances in urinary proteome analysis and biomarker discovery in pediatric renal disease.

Authors:  Cécile Caubet; Chrystelle Lacroix; Stéphane Decramer; Jens Drube; Jochen H H Ehrich; Harald Mischak; Jean-Loup Bascands; Joost P Schanstra
Journal:  Pediatr Nephrol       Date:  2009-07-15       Impact factor: 3.714

5.  Loss of chloride channel ClC-5 impairs endocytosis by defective trafficking of megalin and cubilin in kidney proximal tubules.

Authors:  Erik I Christensen; Olivier Devuyst; Geneviève Dom; Rikke Nielsen; Patrick Van der Smissen; Pierre Verroust; Michèle Leruth; William B Guggino; Pierre J Courtoy
Journal:  Proc Natl Acad Sci U S A       Date:  2003-06-18       Impact factor: 12.779
  5 in total

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