Nucleotide sequence of the Na +/H + exchanger-8 in patients with congenital sodium diarrhea

Journal of Pediatric Gastroenterology and Nutrition

Volumn 53, Issue 5, 2011, Pages 474-477

  Baum, Michel ^a   Martin, Martin G ^b   Booth, Ian W ^c   Holmberg, Christer ^d   Twombley, Katherine ^a   Zhang, Qiuyu ^a   Gattineni, Jyothsna ^a   Moe, Orson ^b  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^b MATTEL CHILDREN S HOSPITAL   (United States)

^c UNIVERSITY DEPARTMENT OF MEDICINE   (United Kingdom)

^d UNIVERSITY OF HELSINKI   (Finland)

Author keywords

Congenital diarrhea; Intestine; Na + H + exchanger

Indexed keywords

SODIUM PROTON EXCHANGE PROTEIN; SODIUM PROTON EXCHANGE PROTEIN 3; SODIUM PROTON EXCHANGE PROTEIN 8; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ARTICLE; CLINICAL ARTICLE; CONGENITAL SODIUM DIARRHEA; DIARRHEA; DNA SEQUENCE; EXON; GENE MUTATION; HUMAN; INTESTINE BRUSH BORDER MEMBRANE; MOUSE; NONHUMAN; PRIORITY JOURNAL; PROMOTER REGION;

ADULT; ANIMALS; BASE SEQUENCE; CHILD; DIARRHEA; FEMALE; HUMANS; HYDROGEN-ION CONCENTRATION; INFANT; INTESTINES; MALE; MICE; MICROVILLI; MOLECULAR SEQUENCE DATA; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA; SODIUM; SODIUM-HYDROGEN ANTIPORTER;

EID: 80255123323     PISSN: 02772116     EISSN: 15364801     Source Type: Journal    
DOI: 10.1097/MPG.0b013e318227ad6e     Document Type: Article

References (27)

1. Booth IW, Stange G, Murer H, et al. Defective jejunal brushborder Na/H exchange: a cause of congenital secretory diarrhoea. Lancet 1985;1:1066-9. (Pubitemid 15075506)
2. Fell JM, Miller MP, Finkel Y, et al. Congenital sodium diarrhea with a partial defect in jejunal brush border membrane sodium transport, normal rectal transport, and resolving diarrhea. J Pediatr Gastroenterol Nutr 1992;15:112-6.
3. Holmberg C, Perheentupa J. Congenital, Na diarrhea: a new type of secretory diarrhea. J Pediatr 1985;106:56-61. (Pubitemid 15189908)
4. Keller KM, Wirth S, Baumann W, et al. Defective jejunal brush border membrane sodium/proton exchange in association with lethal familial protracted diarrhoea. Gut 1990;31:1156-8. (Pubitemid 20343058)
5. Muller T, Wijmenga C, Phillips AD, et al. Congenital sodium diarrhea is an autosomal recessive disorder of sodium/proton exchange but unrelated to known candidate genes. Gastroenterology 2000;119: 1506-13. (Pubitemid 32198676)
6. Zachos NC, Tse M, Donowitz M. Molecular physiology of intestinal Na/H exchange. Annu Rev Physiol 2005;67:411-43. (Pubitemid 40409511)
7. Goyal S, Vanden Heuvel G, Aronson PS. Renal expression of novel Na/H exchanger isoform NHE8. Am J Physiol Renal Physiol 2003;284:F467-73. (Pubitemid 36227907)
8. Zhang J, Bobulescu IA, Goyal S, et al. Characterization of Na/H exchanger NHE8 in cultured renal epithelial cells. Am J Physiol Renal Physiol 2007;293:F761-6. (Pubitemid 47403346)
9. Becker AM, Zhang J, Goyal S, et al. Ontogeny of NHE8 in the rat proximal tubule. Am J Physiol Renal Physiol 2007;293:F255-61. (Pubitemid 47345025)
10. Gattineni J, Sas D, Dagan A, et al. Effect of thyroid hormone on the postnatal renal expression of NHE8. Am J Physiol Renal Physiol 2008;294:F198-204.
11. Goyal S, Mentone S, Aronson PS. Immunolocalization of NHE8 in rat kidney. Am J Physiol Renal Physiol 2005;288:F530-8. (Pubitemid 40279459)
12. Xu H, Chen H, Dong J, et al. Gastrointestinal distribution and kinetic characterization of the sodium-hydrogen exchanger isoform 8 (NHE8). Cell Physiol Biochem 2008;21:109-16.
13. Xu H, Chen R, Ghishan FK. Subcloning, localization and expression of the rat intestinal sodium-hydrogen exchanger isoform. Am J Physiol Gastrointest Liver Physiol 2005;289:G36-41. (Pubitemid 40944221)
14. Schultheis PJ, Clarke LL, Meneton P, et al. Renal and intestinal absorptive defects in mice lacking the NHE3 Na/H exchanger. Nat Genet 1998;19:282-5. (Pubitemid 28309344)
15. Woo AL, Noonan WT, Schultheis PJ, et al. Renal function in NHE3- deficient mice with transgenic rescue of small intestinal absorptive defect. Am J Physiol Renal Physiol 2003;284:F1190-8. (Pubitemid 36578446)
16. Gawenis LR, Stien X, Shull GE, et al. Intestinal NaCl transport in NHE2 and NHE3 knockout mice. Am J Physiol Gastrointest Liver Physiol 2002;282:G776-84. (Pubitemid 34651623)
17. Melvin JE, Park K, Richardson L, et al. Mouse down-regulated in adenoma (DRA) is an intestinal Cl(-)/HCO(3)(-) exchanger and is upregulated in colon of mice lacking the NHE3 Na/H exchanger. J Biol Chem 1999;274:22855-61.
18. Baum M, Dwarakanath V, Alpern RJ, et al. Effects of thyroid hormone on the neonatal renal cortical Na/H antiporter. Kidney Int 1998;53: 1254-8. (Pubitemid 28316886)
19. Bradford MM. A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding. Anal Biochem 1976;72:248-54.
20. Amemiya M, Loffing J, Lotscher M, et al. Expression of NHE-3 in the apical membrane of rat renal proximal tubule and thick ascending limb. Kidney Int 1995;48:1206-15.
21. Heinz-Erian P, Muller T, Krabichler B, et al. Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea. Am J Hum Genet 2009;84:188-96.
22. Collins JF, Xu H, Kiela PR, et al. Functional and molecular characterization of NHE3 expression during ontogeny in rat jejunal epithelium. Am J Physiol 1997;273:C1937-46.
23. Wormmeester L, Sanchez dM, Kokke F, et al. Quantitative contribution of NHE2 and NHE3 to rabbit ileal brush-border Na/H exchange. Am J Physiol 1998;274:C1261-72.
24. Schultheis PJ, Clarke LL, Meneton P, et al. Targeted disruption of the murine Na/H exchanger isoform 2 gene causes reduced viability of gastric parietal cells and loss of net acid secretion. J Clin Invest 1998;101:1243-53. (Pubitemid 28145240)
25. Ledoussal C,Woo AL, Miller ML, et al. Loss of the NHE2 Na/H exchanger has no apparent effect on diarrheal state of NHE3- deficient mice. Am J Physiol Gastrointest Liver Physiol 2001;281: G1385-96.
26. Bachmann O, Riederer B, Rossmann H, et al. The Na/H exchanger isoform 2 is the predominant NHE isoform in murine colonic crypts and its lack causes NHE3 upregulation. Am J Physiol Gastrointest Liver Physiol 1995;287:G125-33.
27. Donowitz M, Li XH. Regulatory binding partners and complexes of NHE3. Physiol Rev 2007;87:825-72. (Pubitemid 47086280)