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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 …
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 …
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 …
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 …
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 …
Rare diseases caused by abnormal calcium sensing and signalling.
Tőke J, Czirják G, Enyedi P, Tóth M. Tőke J, et al. Endocrine. 2021 Mar;71(3):611-617. doi: 10.1007/s12020-021-02620-5. Epub 2021 Feb 2. Endocrine. 2021. PMID: 33528764 Free PMC article. Review.
Activating mutations of the CaSR gene cause enhanced sensitivity to extracellular calcium concentration resulting in autosomal dominant hypocalcemia or Bartter-syndrome type V. Inactivating CaSR gene mutations lead to resistance to extracellular calcium. ...
Activating mutations of the CaSR gene cause enhanced sensitivity to extracellular calcium concentration resulting in autosomal dominant hypo …
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 …
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