Molecular Diagnosis of Solute Carrier Family 4 Member 1 (SLC4A1) Mutation–Related Autosomal Recessive Distal Renal Tubular Acidosis

Solute Carrier Family ◽

Solute Carrier ◽

An in vitro splicing assay reveals the pathogenicity of a novel intronic variant in ATP6V0A4 for autosomal recessive distal renal tubular acidosis

BMC Nephrology ◽

10.1186/s12882-017-0774-4 ◽

2017 ◽

Vol 18 (1) ◽

Cited By ~ 5

Author(s):

Tomohiko Yamamura ◽

Kandai Nozu ◽

Yuya Miyoshi ◽

Keita Nakanishi ◽

Junya Fujimura ◽

...

Keyword(s):

Renal Tubular Acidosis ◽

Autosomal Recessive ◽

In Vitro Splicing ◽

Autosomal recessive distal renal tubular acidosis associated with Southeast Asian ovalocytosis

Kidney International ◽

10.1046/j.1523-1755.1999.00756.x ◽

1999 ◽

Vol 56 (5) ◽

pp. 1674-1682 ◽

Cited By ~ 70

Author(s):

Somkiat Vasuvattakul ◽

Pa-thai Yenchitsomanus ◽

Prayong Vachuanichsanong ◽

Peti Thuwajit ◽

Charoen Kaitwatcharachai ◽

...

Keyword(s):

Renal Tubular Acidosis ◽

Autosomal Recessive ◽

Southeast Asian ◽

Molecular cloning and characterization of novel tissue-specific isoforms of the human vacuolar H+-ATPase C, G and d subunits, and their evaluation in autosomal recessive distal renal tubular acidosis

Gene ◽

10.1016/s0378-1119(02)00884-3 ◽

2002 ◽

Vol 297 (1-2) ◽

pp. 169-177 ◽

Cited By ~ 76

Author(s):

Annabel N. Smith ◽

Katherine J. Borthwick ◽

Fiona E. Karet

Keyword(s):

Molecular Cloning ◽

Renal Tubular Acidosis ◽

Autosomal Recessive ◽

Tissue Specific ◽

Molecular Diagnosis and Identification of Genetic Variants Underlying Distal Renal Tubular Acidosis in Pakistani Patients Using Whole Exome Sequencing

Genetic Testing and Molecular Biomarkers ◽

10.1089/gtmb.2019.0195 ◽

2020 ◽

Vol 24 (2) ◽

pp. 85-91 ◽

Cited By ~ 1

Author(s):

Naima Khan ◽

Naureen Akhtar ◽

Fehmida Farid Khan ◽

Sofia Hussain ◽

Muhammad Naeem

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

Molecular Diagnosis ◽

Renal Tubular Acidosis ◽

Genetic Variants ◽

Whole Exome ◽

Genetic Investigation of Autosomal Recessive Distal Renal Tubular Acidosis: Evidence for Early Sensorineural Hearing Loss Associated with Mutations in theATP6V0A4Gene

Journal of the American Society of Nephrology ◽

10.1681/asn.2005121305 ◽

2006 ◽

Vol 17 (5) ◽

pp. 1437-1443 ◽

Cited By ~ 74

Author(s):

Rosa Vargas-Poussou ◽

Pascal Houillier ◽

Nelly Le Pottier ◽

Laurence Strompf ◽

Chantal Loirat ◽

...

Keyword(s):

Hearing Loss ◽

Sensorineural Hearing Loss ◽

Renal Tubular Acidosis ◽

Autosomal Recessive ◽

Sensorineural Hearing ◽

Genetic Investigation ◽

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

Proceedings of the National Academy of Sciences ◽

10.1073/pnas.95.11.6337 ◽

1998 ◽

Vol 95 (11) ◽

pp. 6337-6342 ◽

Cited By ~ 186

Author(s):

F. E. Karet ◽

F. J. Gainza ◽

A. Z. Gyory ◽

R. J. Unwin ◽

O. Wrong ◽

...

Keyword(s):

Renal Tubular Acidosis ◽

Autosomal Recessive ◽

Autosomal Dominant ◽

Primary Autosomal Recessive Distal Renal Tubular Acidosis Caused by a Common HomozygousSLC4A1Mutation in Two Lao Families

Journal of Korean Medical Science ◽

10.3346/jkms.2018.33.e95 ◽

2018 ◽

Vol 33 (13) ◽

Author(s):

Eujin Park ◽

Vilaphone Phaymany ◽

Eun Sang Yi ◽

Sommanikhone Phangmanixay ◽

Hae Il Cheong ◽

...

Keyword(s):

Renal Tubular Acidosis ◽

Autosomal Recessive ◽

Localization of a Gene for Autosomal Recessive Distal Renal Tubular Acidosis with Normal Hearing (rdRTA2) to 7q33-34

The American Journal of Human Genetics ◽

10.1086/302679 ◽

1999 ◽

Vol 65 (6) ◽

pp. 1656-1665 ◽

Cited By ~ 75

Author(s):

Fiona E. Karet ◽

Karin E. Finberg ◽

Ahmet Nayir ◽

Aysin Bakkaloglu ◽

Seza Ozen ◽

...

Keyword(s):

Renal Tubular Acidosis ◽

Autosomal Recessive ◽

Normal Hearing ◽

Novel compound heterozygous SLC4A1 mutations in Thai patients with autosomal recessive distal renal tubular acidosis

American Journal of Kidney Diseases ◽

10.1053/j.ajkd.2004.03.033 ◽

2004 ◽

Vol 44 (1) ◽

pp. 64-70 ◽

Cited By ~ 37

Author(s):

Suchai Sritippayawan ◽

Achra Sumboonnanonda ◽

Somkiat Vasuvattakul ◽

Thitima Keskanokwong ◽

Nunghathai Sawasdee ◽

...

Keyword(s):

Renal Tubular Acidosis ◽

Autosomal Recessive ◽

Compound Heterozygous ◽

Autosomal recessive distal renal tubular acidosis caused by G701D mutation of anion exchanger 1 gene

American Journal of Kidney Diseases ◽

10.1053/ajkd.2002.33909 ◽

2002 ◽

Vol 40 (1) ◽

pp. 21-29 ◽

Cited By ~ 34

Author(s):

Pa-thai Yenchitsomanus ◽

Somkiat Vasuvattakul ◽

Sukachart Kirdpon ◽

Sirijitta Wasanawatana ◽

Wattanachai Susaengrat ◽

...

Keyword(s):

Renal Tubular Acidosis ◽

Anion Exchanger ◽

Autosomal Recessive ◽

Anion Exchanger 1 ◽