Distal renal tubular acidosis, autoimmune thyroiditis, enamel hypomaturation, and tooth agenesis caused by homozygosity of a novel double-nucleotide substitution in SLC4A4-Reference-Cited by-同舟云学术

Distal renal tubular acidosis, autoimmune thyroiditis, enamel hypomaturation, and tooth agenesis caused by homozygosity of a novel double-nucleotide substitution in SLC4A4

Published:2022-07 Issue:7 Volume:153 Page:668-676
ISSN:0002-8177
Container-title:The Journal of the American Dental Association
language:en
Short-container-title:The Journal of the American Dental Association

Author:

Kantaputra Piranit^ORCID,Guven Yeliz,Aksu Bagdagul^ORCID,Kalayci Tugba,Doğan Cezmi,Intachai Worrachet,Olsen Bjorn,Tongsima Sissades^ORCID,Ngamphiw Chumpol^ORCID,Noppakun Kajohnsak^ORCID

Funder

Thailand Research Fund

Health Systems Research Institute

Publisher

Elsevier BV

Subject

General Dentistry

Reference42 articles.

1. Renal tubular acidosis;Alexander;Pediatr Clin North Am,2019

2. Prevention of the disrupted enamel phenotype in Slc4a4-null mice using explant organ culture maintained in a living host kidney capsule;Wen;PLoS One,2014

3. Renal tubular acidosis: H+/base and ammonia transport abnormalities and clinical syndromes;Kurtz;Adv Chronic Kidney Dis,2018

4. NBCe1 as a model carrier for understanding the structure-function properties of Na+-coupled SLC4 transporters in health and disease;Kurtz;Pflugers Arch,2014

5. Colonic anion secretory defects and metabolic acidosis in mice lacking the NBC1 Na+/HCO3– cotransporter;Gawenis;J Biol Chem,2007

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