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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1982 1
1998 2
2003 3
2004 1
2007 1
2008 1
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2011 1
2016 1
2020 3
2021 1
2024 2

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15 results

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Page 1
Inherited salt-losing tubulopathy: An old condition but a new category of tubulopathy.
Nozu K, Yamamura T, Horinouchi T, Nagano C, Sakakibara N, Ishikura K, Hamada R, Morisada N, Iijima K. Nozu K, et al. Pediatr Int. 2020 Apr;62(4):428-437. doi: 10.1111/ped.14089. Epub 2020 Apr 13. Pediatr Int. 2020. PMID: 31830341 Review.
Bartter syndrome (BS) and Gitelman syndrome (GS) are syndromes associated with congenital tubular dysfunction, characterized by hypokalemia and metabolic alkalosis. ...Recent advances in molecular biology have shown that these diseases can be genetically clas
Bartter syndrome (BS) and Gitelman syndrome (GS) are syndromes associated with congenital tubular dysfunction, characte
Activating Calcium-Sensing Receptor Mutations: Prospects for Future Treatment with Calcilytics.
Mayr B, Glaudo M, Schöfl C. Mayr B, et al. Trends Endocrinol Metab. 2016 Sep;27(9):643-652. doi: 10.1016/j.tem.2016.05.005. Epub 2016 Jun 20. Trends Endocrinol Metab. 2016. PMID: 27339034 Review.
Activating mutations of the G protein-coupled receptor, calcium-sensing receptor (CaSR), cause autosomal dominant hypocalcemia and Bartter syndrome type 5. These mutations lower the set-point for extracellular calcium sensing, thereby causing decreased …
Activating mutations of the G protein-coupled receptor, calcium-sensing receptor (CaSR), cause autosomal dominant hypocalcemia and Bartte
Adult classic Bartter syndrome: a case report with 5-year follow-up and literature review.
Jiang L, Li D, Guo Q, Li Y, Zan L, Ao R. Jiang L, et al. Endocr J. 2024 May 23;71(5):537-542. doi: 10.1507/endocrj.EJ23-0631. Epub 2024 Mar 19. Endocr J. 2024. PMID: 38508775 Free article. Review.
Bartter syndrome (BS) is a rare, inherited salt-losing renal tubular disorder characterized by secondary hyperaldosteronism, hypokalemia, hypochloremia, metabolic alkalosis, and low-to-normal blood pressure. ...A literature review showed that no homozygous mutations
Bartter syndrome (BS) is a rare, inherited salt-losing renal tubular disorder characterized by secondary hyperaldosteronism, h
Disorders of distal nephron function.
Sebastian A, Hulter HN, Kurtz I, Maher T, Schambelan M. Sebastian A, et al. Am J Med. 1982 Feb;72(2):289-307. doi: 10.1016/0002-9343(82)90822-1. Am J Med. 1982. PMID: 6277192 Review.
The pathophysiologic features of the following disorders of distal nephron function are reviewed: (1) pseudohypoaldosteronism, a heterogenous group of disorders in which the signs and symptoms are suggestive of aldosterone deficiency, but in which aldosterone levels are supernorm …
The pathophysiologic features of the following disorders of distal nephron function are reviewed: (1) pseudohypoaldosteronism, a heterogenou …
NKCC1: Newly Found as a Human Disease-Causing Ion Transporter.
Koumangoye R, Bastarache L, Delpire E. Koumangoye R, et al. Function (Oxf). 2021;2(1):zqaa028. doi: 10.1093/function/zqaa028. Epub 2020 Nov 3. Function (Oxf). 2021. PMID: 33345190 Free PMC article. Review.
The closely related SLC12A transporters, NKCC2 and NCC have been identified some 25 years ago as responsible for Bartter and Gitelman syndromes: two renal-dependent salt wasting disorders. Absence of disease was most surprising since the NKCC1 knockout mouse was sho …
The closely related SLC12A transporters, NKCC2 and NCC have been identified some 25 years ago as responsible for Bartter and Gitelman …
Genetic causes of hypercalciuric nephrolithiasis.
Stechman MJ, Loh NY, Thakker RV. Stechman MJ, et al. Pediatr Nephrol. 2009 Dec;24(12):2321-32. doi: 10.1007/s00467-008-0807-0. Epub 2008 Apr 30. Pediatr Nephrol. 2009. PMID: 18446382 Free PMC article. Review.
Renal stone disease (nephrolithiasis) affects 3-5% of the population and is often associated with hypercalciuria. ...Thus, Bartter syndrome, an autosomal disease, is caused by mutations of the bumetanide-sensitive Na-K-Cl (NKCC2) co-transporter, …
Renal stone disease (nephrolithiasis) affects 3-5% of the population and is often associated with hypercalciuria. ...Thus, …
Genetics of hypercalciuric nephrolithiasis: renal stone disease.
Stechman MJ, Loh NY, Thakker RV. Stechman MJ, et al. Ann N Y Acad Sci. 2007 Nov;1116:461-84. doi: 10.1196/annals.1402.030. Epub 2007 Sep 13. Ann N Y Acad Sci. 2007. PMID: 17872384 Review.
Renal stone disease (nephrolithiasis) affects 5% of adults and is often associated with hypercalciuria. ...Thus, Bartter syndrome, an autosomal recessive disease, is caused by mutations of the bumetanide-sensitive Na-K-Cl (NKCC2) cotransporter, …
Renal stone disease (nephrolithiasis) affects 5% of adults and is often associated with hypercalciuria. ...Thus, Bartter
Molecular regulation of NKCC2 in the thick ascending limb.
Ares GR, Caceres PS, Ortiz PA. Ares GR, et al. Am J Physiol Renal Physiol. 2011 Dec;301(6):F1143-59. doi: 10.1152/ajprenal.00396.2011. Epub 2011 Sep 7. Am J Physiol Renal Physiol. 2011. PMID: 21900458 Free PMC article. Review.
In humans, mutations in the gene coding for NKCC2 result in decreased or absent activity characterized by severe salt and volume loss and decreased blood pressure (Bartter syndrome type 1). Opposite to Bartter's syndrome, enhanced NaCl absorptio …
In humans, mutations in the gene coding for NKCC2 result in decreased or absent activity characterized by severe salt and volume loss and de …
[Bartter syndrome and it's neonatal type].
Jankauskiene A, Jakutovic M. Jankauskiene A, et al. Medicina (Kaunas). 2003;39 Suppl 1:88-93. Medicina (Kaunas). 2003. PMID: 12761427 Free article. Review. Lithuanian.
For the first time neonatal variant of Bartter syndrome to 14.5-year old girl is presented in Lithuania. ...Urine analysis revealed impaired renal concentration capacity, hypercalciuria and hypernatriuria. She had the symptom of systemic disease - oste …
For the first time neonatal variant of Bartter syndrome to 14.5-year old girl is presented in Lithuania. ...Urine analy …
Straightening out the renal tubule: advances in the molecular basis of the inherited tubulopathies.
Pearce SH. Pearce SH. QJM. 1998 Jan;91(1):5-12. doi: 10.1093/qjmed/91.1.5. QJM. 1998. PMID: 9519207 Review.
Advances in the molecular genetics of inherited renal tubulopathies have allowed some insight into the normal mechanisms of tubular cation and anion reabsorption. It is now possible to view Bartter's syndrome, Gitelman's syndrome and pseudohypoaldosteronism …
Advances in the molecular genetics of inherited renal tubulopathies have allowed some insight into the normal mechanisms of tubular cation a …
15 results