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24 results

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Diseases associated with calcium-sensing receptor.
Vahe C, Benomar K, Espiard S, Coppin L, Jannin A, Odou MF, Vantyghem MC. Vahe C, et al. Orphanet J Rare Dis. 2017 Jan 25;12(1):19. doi: 10.1186/s13023-017-0570-z. Orphanet J Rare Dis. 2017. PMID: 28122587 Free PMC article. Review.
Hypocalcemia disorders, which are more rare, are related to heterozygous activating mutations of the CASR gene (type 1), consisting of autosomal dominant hypocalcemia disorders, sometimes with a presentation of pseudo-Bartter's syndrome. The differential diag …
Hypocalcemia disorders, which are more rare, are related to heterozygous activating mutations of the CASR gene (type 1), consisting o …
Gitelman syndrome.
Knoers NV, Levtchenko EN. Knoers NV, et al. Orphanet J Rare Dis. 2008 Jul 30;3:22. doi: 10.1186/1750-1172-3-22. Orphanet J Rare Dis. 2008. PMID: 18667063 Free PMC article. Review.
Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion. ...In a small minority of GS patients, mutations in the CL …
Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis …
ClC-K chloride channels: emerging pathophysiology of Bartter syndrome type 3.
Andrini O, Keck M, Briones R, Lourdel S, Vargas-Poussou R, Teulon J. Andrini O, et al. Am J Physiol Renal Physiol. 2015 Jun 15;308(12):F1324-34. doi: 10.1152/ajprenal.00004.2015. Epub 2015 Mar 25. Am J Physiol Renal Physiol. 2015. PMID: 25810436 Free article. Review.
The mutations in the CLCNKB gene encoding the ClC-Kb chloride channel are responsible for Bartter syndrome type 3, one of the four variants of Bartter syndrome in the genetically based nomenclature. All forms of Bartter syndrome
The mutations in the CLCNKB gene encoding the ClC-Kb chloride channel are responsible for Bartter syndrome type 3
Understanding Bartter syndrome and Gitelman syndrome.
Fremont OT, Chan JC. Fremont OT, et al. World J Pediatr. 2012 Feb;8(1):25-30. doi: 10.1007/s12519-012-0333-9. Epub 2012 Jan 27. World J Pediatr. 2012. PMID: 22282380 Review.
CONCLUSIONS: Patients with Bartter syndrome types 1, 2 and 4 present at a younger age than classic Bartter syndrome type 3. They present with symptoms, often quite severe in the neonatal period. Patients with classic Bartter syn
CONCLUSIONS: Patients with Bartter syndrome types 1, 2 and 4 present at a younger age than classic Bartter syndrome
Modus operandi of ClC-K2 Cl- Channel in the Collecting Duct Intercalated Cells.
Stavniichuk A, Pyrshev K, Tomilin VN, Kordysh M, Zaika O, Pochynyuk O. Stavniichuk A, et al. Biomolecules. 2023 Jan 14;13(1):177. doi: 10.3390/biom13010177. Biomolecules. 2023. PMID: 36671562 Free PMC article. Review.
ClC-K2 (ClC-Kb in humans) is a Cl(-)-permeable channel expressed on the basolateral membrane of several segments of the renal tubule, including the collecting duct intercalated cells. ClC-Kb mutations are causative for Bartters' syndrome type 3 manifested as …
ClC-K2 (ClC-Kb in humans) is a Cl(-)-permeable channel expressed on the basolateral membrane of several segments of the renal tubule, includ …
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
New perspective of ClC-Kb/2 Cl- channel physiology in the distal renal tubule.
Zaika O, Tomilin V, Mamenko M, Bhalla V, Pochynyuk O. Zaika O, et al. Am J Physiol Renal Physiol. 2016 May 15;310(10):F923-30. doi: 10.1152/ajprenal.00577.2015. Epub 2016 Jan 20. Am J Physiol Renal Physiol. 2016. PMID: 26792067 Free PMC article. Review.
Since its identification as the underlying molecular cause of Bartter's syndrome type 3, ClC-Kb (ClC-K2 in rodents, henceforth it will be referred as ClC-Kb/2) is proposed to play an important role in systemic electrolyte balance and blood pressure reg …
Since its identification as the underlying molecular cause of Bartter's syndrome type 3, ClC-Kb (ClC-K2 in roden …
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 …
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, …
The pathophysiological and molecular basis of Bartter's and Gitelman's syndromes.
Bhandari S. Bhandari S. Postgrad Med J. 1999 Jul;75(885):391-6. doi: 10.1136/pgmj.75.885.391. Postgrad Med J. 1999. PMID: 10474721 Free PMC article. Review.
Molecular defects affecting the transport of sodium, potassium and chloride in the nephron through the ROMK K+ channel, Na+/K+/2Cl- cotransporter, the Na+/Cl- cotransporter and chloride channel have been identified in patients with Bartter's and Gitelman's syndromes. Defec …
Molecular defects affecting the transport of sodium, potassium and chloride in the nephron through the ROMK K+ channel, Na+/K+/2Cl- cotransp …
24 results