Autosomal Dominant Distal Renal Tubular Acidosis Latest Advances

A novel, dominant disease mechanism of distal renal tubular acidosis with specific variants in ATP6V1B1.

Journal: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association

Published: January 21, 2025

Autosomal dominant distal renal tubular acidosis in two pediatric patients with mutations in the SLC4A1 gene. Can the maximum urinary pCO2 test be normal?

Journal: Nefrologia

Published: May 12, 2021

A different clinical manifestation in a Japanese family with autosomal dominant distal renal tubular acidosis caused by SLC4A1 mutation.

Journal: CEN case reports

Published: May 01, 2020

Red Blood Cell AE1/Band 3 Transports in Dominant Distal Renal Tubular Acidosis Patients.

Journal: Kidney international reports

Published: October 26, 2019

A Family with Autosomal Dominant Distal Renal Tubular Acidosis Presents with Atypical Phenotype Caused by a Missence Mutation (R388C) of the Human Kidney Anion Exchanger.

Journal: Nephron

Published: April 06, 2018

Autosomal dominant distal renal tubular acidosis caused by a mutation in the anion exchanger 1 gene in a Japanese family.

Journal: CEN case reports

Published: February 01, 2015

A novel SLC4A1 variant in an autosomal dominant distal renal tubular acidosis family with a severe phenotype.

Journal: Endocrine

Published: November 17, 2009

Dominant and recessive distal renal tubular acidosis mutations of kidney anion exchanger 1 induce distinct trafficking defects in MDCK cells.

Journal: Traffic (Copenhagen, Denmark)

Published: January 20, 2006

Defective kidney anion-exchanger 1 (AE1, Band 3) trafficking in dominant distal renal tubular acidosis (dRTA).

Journal: Biochemical Society symposium

Published: January 15, 2005

Molecular mechanisms of autosomal dominant and recessive distal renal tubular acidosis caused by SLC4A1 (AE1) mutations.

Journal: Journal of molecular and genetic medicine : an international journal of biomedical research

Published: January 01, 2005

A novel missense mutation in AE1 causing autosomal dominant distal renal tubular acidosis retains normal transport function but is mistargeted in polarized epithelial cells.

Journal: The Journal of biological chemistry

Published: January 22, 2004

Non-polarized targeting of AE1 causes autosomal dominant distal renal tubular acidosis.

Journal: Nature genetics

Published: September 04, 2002

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A novel, dominant disease mechanism of distal renal tubular acidosis with specific variants in ATP6V1B1.

A novel, dominant disease mechanism of distal renal tubular acidosis with specific variants in ATP6V1B1.

Autosomal dominant distal renal tubular acidosis in two pediatric patients with mutations in the SLC4A1 gene. Can the maximum urinary pCO2 test be normal?

Autosomal dominant distal renal tubular acidosis in two pediatric patients with mutations in the SLC4A1 gene. Can the maximum urinary pCO2 test be normal?

A different clinical manifestation in a Japanese family with autosomal dominant distal renal tubular acidosis caused by SLC4A1 mutation.

A different clinical manifestation in a Japanese family with autosomal dominant distal renal tubular acidosis caused by SLC4A1 mutation.

Red Blood Cell AE1/Band 3 Transports in Dominant Distal Renal Tubular Acidosis Patients.

Red Blood Cell AE1/Band 3 Transports in Dominant Distal Renal Tubular Acidosis Patients.

A Family with Autosomal Dominant Distal Renal Tubular Acidosis Presents with Atypical Phenotype Caused by a Missence Mutation (R388C) of the Human Kidney Anion Exchanger.

A Family with Autosomal Dominant Distal Renal Tubular Acidosis Presents with Atypical Phenotype Caused by a Missence Mutation (R388C) of the Human Kidney Anion Exchanger.

Autosomal dominant distal renal tubular acidosis caused by a mutation in the anion exchanger 1 gene in a Japanese family.

Autosomal dominant distal renal tubular acidosis caused by a mutation in the anion exchanger 1 gene in a Japanese family.

A novel SLC4A1 variant in an autosomal dominant distal renal tubular acidosis family with a severe phenotype.

A novel SLC4A1 variant in an autosomal dominant distal renal tubular acidosis family with a severe phenotype.

Dominant and recessive distal renal tubular acidosis mutations of kidney anion exchanger 1 induce distinct trafficking defects in MDCK cells.

Dominant and recessive distal renal tubular acidosis mutations of kidney anion exchanger 1 induce distinct trafficking defects in MDCK cells.

Defective kidney anion-exchanger 1 (AE1, Band 3) trafficking in dominant distal renal tubular acidosis (dRTA).

Defective kidney anion-exchanger 1 (AE1, Band 3) trafficking in dominant distal renal tubular acidosis (dRTA).

Molecular mechanisms of autosomal dominant and recessive distal renal tubular acidosis caused by SLC4A1 (AE1) mutations.

Molecular mechanisms of autosomal dominant and recessive distal renal tubular acidosis caused by SLC4A1 (AE1) mutations.

A novel missense mutation in AE1 causing autosomal dominant distal renal tubular acidosis retains normal transport function but is mistargeted in polarized epithelial cells.

A novel missense mutation in AE1 causing autosomal dominant distal renal tubular acidosis retains normal transport function but is mistargeted in polarized epithelial cells.

Non-polarized targeting of AE1 causes autosomal dominant distal renal tubular acidosis.

Non-polarized targeting of AE1 causes autosomal dominant distal renal tubular acidosis.