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Quoted phrase not found in phrase index: "Bartter disease type 1"
Page 1
Clinical and Genetic Spectrum of Bartter Syndrome Type 3.
Seys E, Andrini O, Keck M, Mansour-Hendili L, Courand PY, Simian C, Deschenes G, Kwon T, Bertholet-Thomas A, Bobrie G, Borde JS, Bourdat-Michel G, Decramer S, Cailliez M, Krug P, Cozette P, Delbet JD, Dubourg L, Chaveau D, Fila M, Jourde-Chiche N, Knebelmann B, Lavocat MP, Lemoine S, Djeddi D, Llanas B, Louillet F, Merieau E, Mileva M, Mota-Vieira L, Mousson C, Nobili F, Novo R, Roussey-Kesler G, Vrillon I, Walsh SB, Teulon J, Blanchard A, Vargas-Poussou R. Seys E, et al. J Am Soc Nephrol. 2017 Aug;28(8):2540-2552. doi: 10.1681/ASN.2016101057. Epub 2017 Apr 5. J Am Soc Nephrol. 2017. PMID: 28381550 Free PMC article.
Bartter syndrome type 3 is a clinically heterogeneous hereditary salt-losing tubulopathy caused by mutations of the chloride voltage-gated channel Kb gene (CLCNKB), which encodes the ClC-Kb chloride channel involved in NaCl reabsorption in the renal tubule. . …
Bartter syndrome type 3 is a clinically heterogeneous hereditary salt-losing tubulopathy caused by mutations of the chl …
Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions.
Tschernoster N, Erger F, Kohl S, Reusch B, Wenzel A, Walsh S, Thiele H, Becker C, Franitza M, Bartram MP, Kömhoff M, Schumacher L, Kukat C, Borodina T, Quedenau C, Nürnberg P, Rinschen MM, Driller JH, Pedersen BP, Schlingmann KP, Hüttel B, Bockenhauer D, Beck B, Altmüller J. Tschernoster N, et al. Genome Med. 2023 Aug 23;15(1):62. doi: 10.1186/s13073-023-01215-1. Genome Med. 2023. PMID: 37612755 Free PMC article.
Structural variants occur more frequently in regions with a high homology or repetitive segments, and one rearrangement may predispose to additional events. Bartter syndrome type 3 (BS 3) is a monogenic tubulopathy caused by deleterious variants in the chlori …
Structural variants occur more frequently in regions with a high homology or repetitive segments, and one rearrangement may predispose to ad …
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 ar …
The mutations in the CLCNKB gene encoding the ClC-Kb chloride channel are responsible for Bartter syndrome type 3, one …
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 …
Renal diseases that course with hypomagnesemia. Comments on a new hereditary hypomagnesemic tubulopathy.
Garcia-Nieto VM, Claverie-Martin F, Moraleda-Mesa T, Perdomo-Ramírez A, Fraga-Rodríguez GM, Luis-Yanes MI, Ramos-Trujillo E; Grupo RenalTube. Garcia-Nieto VM, et al. Nefrologia (Engl Ed). 2024 Jan-Feb;44(1):23-31. doi: 10.1016/j.nefroe.2024.02.003. Epub 2024 Feb 12. Nefrologia (Engl Ed). 2024. PMID: 38350738 Free article. Review.
In this paper, we review the initial description, the clinical expressiveness and etiology of four of the first hypomagnesemic tubulopathies described: type 3 Bartter and Gitelman diseases, Autosomal recessive hypomagnesemia with secondary hypocalcemia and Familial …
In this paper, we review the initial description, the clinical expressiveness and etiology of four of the first hypomagnesemic tubulopathies …
Disease-causing dysfunctions of barttin in Bartter syndrome type IV.
Janssen AG, Scholl U, Domeyer C, Nothmann D, Leinenweber A, Fahlke C. Janssen AG, et al. J Am Soc Nephrol. 2009 Jan;20(1):145-53. doi: 10.1681/ASN.2008010102. Epub 2008 Sep 5. J Am Soc Nephrol. 2009. PMID: 18776122 Free PMC article.
Bartter syndrome type IV is an inherited human condition characterized by severe renal salt wasting and sensorineural deafness. ...Last, the nonsense mutation Q32X allowed barttin to associate with ClC-K channels but prevented surface membrane insertion and c …
Bartter syndrome type IV is an inherited human condition characterized by severe renal salt wasting and sensorineural d …
Hereditary tubular transport disorders: implications for renal handling of Ca2+ and Mg2+.
Dimke H, Hoenderop JG, Bindels RJ. Dimke H, et al. Clin Sci (Lond). 2009 Sep 28;118(1):1-18. doi: 10.1042/CS20090086. Clin Sci (Lond). 2009. PMID: 19780717 Review.
It is, therefore, not surprising that monogenic disorders affecting such renal processes may impose a shift in, or even completely blunt, the reabsorptive capacity of these divalent cations within the kidney. Accordingly, in Dent's disease, a disorder with defective proxim …
It is, therefore, not surprising that monogenic disorders affecting such renal processes may impose a shift in, or even completely blunt, th …
Clinical characteristics of HNF1B-related disorders in a Japanese population.
Nagano C, Morisada N, Nozu K, Kamei K, Tanaka R, Kanda S, Shiona S, Araki Y, Ohara S, Matsumura C, Kasahara K, Mori Y, Seo A, Miura K, Washiyama M, Sugimoto K, Harada R, Tazoe S, Kourakata H, Enseki M, Aotani D, Yamada T, Sakakibara N, Yamamura T, Minamikawa S, Ishikura K, Ito S, Hattori M, Iijima K. Nagano C, et al. Clin Exp Nephrol. 2019 Sep;23(9):1119-1129. doi: 10.1007/s10157-019-01747-0. Epub 2019 May 27. Clin Exp Nephrol. 2019. PMID: 31131422
BACKGROUND: Hepatocyte nuclear factor 1beta (HNF1B), located on chromosome 17q12, causes renal cysts and diabetes syndrome (RCAD). Moreover, various phenotypes related to congenital anomalies of the kidney and urinary tract (CAKUT) or Bartter-like electrolyte abnorm …
BACKGROUND: Hepatocyte nuclear factor 1beta (HNF1B), located on chromosome 17q12, causes renal cysts and diabetes syndrome (RCAD). Mo …
Long-term follow-up of patients with Bartter syndrome type I and II.
Puricelli E, Bettinelli A, Borsa N, Sironi F, Mattiello C, Tammaro F, Tedeschi S, Bianchetti MG; Italian Collaborative Group for Bartter Syndrome. Puricelli E, et al. Nephrol Dial Transplant. 2010 Sep;25(9):2976-81. doi: 10.1093/ndt/gfq119. Epub 2010 Mar 10. Nephrol Dial Transplant. 2010. PMID: 20219833 Free article.

In three patients, abdominal ultrasound detected gallstones. The group of patients with antenatal Bartter syndrome had a lower renin ratio (P < 0.05) and a higher standard deviation score (SDS) for height (P < 0.05) than a previously studied group of pa

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In three patients, abdominal ultrasound detected gallstones. The group of patients with antenatal Bartter syndrome had a lower …
Monogenic urinary lithiasis in Tunisian children: 25 years' experience of a referral center.
Boussetta A, Karray A, Abida N, Jellouli M, Gargah T. Boussetta A, et al. Tunis Med. 2022 mai;100(5):410-415. Tunis Med. 2022. PMID: 36206091 Free PMC article.
Bartter syndrome, adenine phosphoribosyltransferase deficiency and Hereditary hypophosphatemic rickets with hypercalciuria were found in 1 case each. After an average follow-up of 6.453.79 years, six patients were in end-stage renal disease. Three pati …
Bartter syndrome, adenine phosphoribosyltransferase deficiency and Hereditary hypophosphatemic rickets with hypercalciuria wer …
34 results