Associated Papers
Trio-WES and functional validation reveals a novel splice site variant of SLC26A3 in a case with congenital chloride diarrhea and a systematic review of SLC26A3 mutations in China.
Zhang R et al.
Molecular Genetics and Genomics : Mgg, 2025
Congenital chloride diarrhoea in a Chinese infant with a compound heterozygous SLC26A3 mutation.
Li Q et al.
Bmc Pediatrics, 2024
Diagnostic Challenge of Congenital Chloride Diarrhea and Ulcerative Colitis Overlap in an Adult Misdiagnosed with Bartter Syndrome: Case Report and Literature Review.
Sadagah LF et al.
The American Journal of Case Reports, 2022
A novel de novo SLC26A3 mutation causing congenital chloride diarrhea in a Japanese neonate.
Konishi KI et al.
Molecular Genetics & Genomic Medicine, 2020
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
Clinical Features, Molecular Genetics, and Long-Term Outcome in Congenital Chloride Diarrhea: A Nationwide Study in Japan.
Konishi KI et al.
The Journal of Pediatrics, 2019
Advances in Evaluation of Chronic Diarrhea in Infants.
Thiagarajah JR et al.
Gastroenterology, 2018
A missense mutation in SLC26A3 is associated with human male subfertility and impaired activation of CFTR.
Wedenoja S et al.
Scientific Reports, 2017
Twelve Novel Mutations in the SLC26A3 Gene in 17 Sporadic Cases of Congenital Chloride Diarrhea.
Amato F et al.
Journal of Pediatric Gastroenterology and Nutrition, 2017
Japanese neonate with congenital chloride diarrhea caused by SLC26A3 mutation.
Fuwa K et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2015
Congenital chloride diarrhea in dizygotic twins.
Seo KA et al.
Pediatric Gastroenterology, Hepatology & Nutrition, 2013
Congenital chloride diarrhea misdiagnosed as pseudo-Bartter syndrome.
Saneian H et al.
Journal of Research in Medical Sciences : the Official Journal of Isfahan University of Medical Sciences, 2013
Congenital chloride diarrhea in Korean children: novel mutations and genetic characteristics.
Hong J et al.
European Journal of Pediatrics, 2013
Comparison of solution-based exome capture methods for next generation sequencing.
Sulonen AM et al.
Genome Biology, 2011
Update on SLC26A3 mutations in congenital chloride diarrhea.
Wedenoja S et al.
Human Mutation, 2011
The impact of sodium chloride and volume depletion in the chronic kidney disease of congenital chloride diarrhea.
Wedenoja S et al.
Kidney International, 2008
Long-term clinical outcome in patients with congenital chloride diarrhea.
Hihnala S et al.
Journal of Pediatric Gastroenterology and Nutrition, 2006
Expression of SLC26A3, CFTR and NHE3 in the human male reproductive tract: role in male subfertility caused by congenital chloride diarrhoea.
Hihnala S et al.
Molecular Human Reproduction, 2006
SLC26A3 and congenital chloride diarrhoea.
Höglund P
Novartis Foundation Symposium, 2006
SLC26A3 mutations in congenital chloride diarrhea.
Mäkelä S et al.
Human Mutation, 2002
Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea.
Höglund P et al.
Human Mutation, 2001
Japanese siblings with congenital chloride diarrhea.
Yoshikawa H et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2000
The congenital chloride diarrhea gene is expressed in seminal vesicle, sweat gland, inflammatory colon epithelium, and in some dysplastic colon cells.
Haila S et al.
Histochemistry and Cell Biology, 2000
Downregulated in adenoma gene encodes a chloride transporter defective in congenital chloride diarrhea.
Moseley RH et al.
The American Journal of Physiology, 1999
Genetic background of congenital chloride diarrhea in high-incidence populations: Finland, Poland, and Saudi Arabia and Kuwait.
Höglund P et al.
American Journal of Human Genetics, 1998
Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene.
Höglund P et al.
Human Mutation, 1998