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Literature DB >> 11385088

The renal tubular acidoses.

R J Unwin¹, G Capasso.

Abstract

Mesh：

Year: 2001 PMID： 11385088 PMCID： PMC1281453 DOI： 10.1177/014107680109400506

Source DB: PubMed Journal: J R Soc Med ISSN： 0141-0768 Impact factor: 5.344

× No keyword cloud information.

26 in total

1. Hyperkalemic metabolic acidosis.

Authors: T D DuBose
Journal: Am J Kidney Dis Date: 1999-05 Impact factor: 8.860

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. Autosomal dominant distal renal tubular acidosis is associated in three families with heterozygosity for the R589H mutation in the AE1 (band 3) Cl-/HCO3- exchanger.

Authors: P Jarolim; C Shayakul; D Prabakaran; L Jiang; A Stuart-Tilley; H L Rubin; S Simova; J Zavadil; J T Herrin; J Brouillette; M J Somers; E Seemanova; C Brugnara; L M Guay-Woodford; S L Alper
Journal: J Biol Chem Date: 1998-03-13 Impact factor: 5.157

4. Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis.

Authors: F E Karet; F J Gainza; A Z Györy; R J Unwin; O Wrong; M J Tanner; A Nayir; H Alpay; F Santos; S A Hulton; A Bakkaloglu; S Ozen; M J Cunningham; A di Pietro; W G Walker; R P Lifton
Journal: Proc Natl Acad Sci U S A Date: 1998-05-26 Impact factor: 11.205

Review 5. Liposome-mediated gene transfer into the tubules.

Authors: Y H Lien; L W Lai
Journal: Exp Nephrol Date: 1997 Mar-Apr

6. Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities.

Authors: T Igarashi; J Inatomi; T Sekine; S H Cha; Y Kanai; M Kunimi; K Tsukamoto; H Satoh; M Shimadzu; F Tozawa; T Mori; M Shiobara; G Seki; H Endou
Journal: Nat Genet Date: 1999-11 Impact factor: 38.330

Review 7. Physiology and pathophysiology of renal aquaporins.

Authors: S Nielsen; T H Kwon; B M Christensen; D Promeneur; J Frøkiaer; D Marples
Journal: J Am Soc Nephrol Date: 1999-03 Impact factor: 10.121

8. Correction of renal tubular acidosis in carbonic anhydrase II-deficient mice with gene therapy.

Authors: L W Lai; D M Chan; R P Erickson; S J Hsu; Y H Lien
Journal: J Clin Invest Date: 1998-04-01 Impact factor: 14.808

9. Novel AE1 mutations in recessive distal renal tubular acidosis. Loss-of-function is rescued by glycophorin A.

Authors: V S Tanphaichitr; A Sumboonnanonda; H Ideguchi; C Shayakul; C Brugnara; M Takao; G Veerakul; S L Alper
Journal: J Clin Invest Date: 1998-12-15 Impact factor: 14.808

10. Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness.

Authors: F E Karet; K E Finberg; R D Nelson; A Nayir; H Mocan; S A Sanjad; J Rodriguez-Soriano; F Santos; C W Cremers; A Di Pietro; B I Hoffbrand; J Winiarski; A Bakkaloglu; S Ozen; R Dusunsel; P Goodyer; S A Hulton; D K Wu; A B Skvorak; C C Morton; M J Cunningham; V Jha; R P Lifton
Journal: Nat Genet Date: 1999-01 Impact factor: 38.330

7 in total

7. Hypercalciuria and nephrocalcinosis as early feature of Wilson disease onset: description of a pediatric case and literature review.

Authors: Valeria Di Stefano; Elena Lionetti; Novella Rotolo; Mario La Rosa; Salvatore Leonardi
Journal: Hepat Mon Date: 2012-08-25 Impact factor: 0.660

7 in total

The renal tubular acidoses.

1. Hyperkalemic metabolic acidosis.

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

3. Autosomal dominant distal renal tubular acidosis is associated in three families with heterozygosity for the R589H mutation in the AE1 (band 3) Cl-/HCO3- exchanger.

4. Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis.

Review 5. Liposome-mediated gene transfer into the tubules.

6. Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities.

Review 7. Physiology and pathophysiology of renal aquaporins.

8. Correction of renal tubular acidosis in carbonic anhydrase II-deficient mice with gene therapy.

9. Novel AE1 mutations in recessive distal renal tubular acidosis. Loss-of-function is rescued by glycophorin A.

10. Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness.

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

2. Effects of dietary Acid load on exercise metabolism and anaerobic exercise performance.

3. Distal renal tubular acidosis in AIDS young woman with wasting syndrome.

Review 4. Adrenocortical insufficiency in horses and foals.

Review 5. Evaluation of renal tubular acidosis.

Review 6. Renal Tubular Acidosis and Management Strategies: A Narrative Review.

7. Hypercalciuria and nephrocalcinosis as early feature of Wilson disease onset: description of a pediatric case and literature review.