Publications

Janecke AR, et al. Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea. Hum Mol Genet. 2015; PMID: 26358773.

Janecke AR, et al. Congenital Sodium Diarrhea: A Form of Intractable Diarrhea, With a Link to Inflammatory Bowel Disease.J Pediatr Gastroenterol Nutr. 2016;63(2):170-6. PMID: 26835907.

Dimitrov G, et al. Congenital Sodium Diarrhea by mutation of the SLC9A3 gene. Eur J Med Genet. 2019;62(10):103712. PMID: 31276831.

Bogdanic E, et al. Further delineation of SLC9A3-related congenital sodium diarrhea. Mol Genet Genomic Med. 2022:e2000. PMID: 35775128.

Hosnut FO, et al. Non-syndromic Congenital Sodium Diarrhea: A Novel Mutation in the SLC9A3 Gene.Klin Padiatr. 2025;237(1):37-38. PMID: 39094777.

Tan MQ, et al. Genetic mutation analysis of 22 patients with congenital absence of vas deferens: A single-center study. Biol Reprod. 2022;106(1):108-117. PMID: 34673937.

Zhou Q et al. Estrogen action and male fertility: Roles of the sodium/hydrogen exchanger-3 and fluid reabsorption in reproductive tract function.Proc. Natl. Acad. Sci. USA 2001, 98, 14132–14137. PMID: 11698654.

Wang YY et al. Loss of SLC9A3 decreases CFTR protein and causes obstructed azoospermia in mice.PLoS Genet. 2017;13(4):e1006715. PMID: 28384194.

Wang YY et al. SLC9A3 Protein Is Critical for Acrosomal Formation in Postmeiotic Male Germ Cells. Int J Mol Sci. 2017;19(1). PMID: 29286340.

Chiang HS et al. The role of SLC9A3 in Taiwanese patients with congenital bilateral absence of vas deferens (CBAVD).J Formos Med Assoc. 2019;118(12):1576-1583. PMID: 30797621.