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Literature DB >> 16773427

Barttin mutations in antenatal Bartter syndrome with sensorineural deafness.

Ferda Ozlu, Hacer Yapicioğlu, Mehmet Satar, Nejat Narli, Kenan Ozcan, Mithat Buyukcelik, Martin Konrad, Osman Demirhan.

Abstract

Entities: Disease Gene

Mesh：

Substances：

Year: 2006 PMID： 16773427 DOI： 10.1007/s00467-006-0108-4

Source DB: PubMed Journal: Pediatr Nephrol ISSN： 0931-041X Impact factor: 3.714

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6 in total

1. Hypokalemic salt-losing tubulopathy with chronic renal failure and sensorineural deafness.

Authors: N Jeck; S C Reinalter; T Henne; W Marg; R Mallmann; K Pasel; M Vollmer; G Klaus; A Leonhardt; H W Seyberth; M Konrad
Journal: Pediatrics Date: 2001-07 Impact factor: 7.124

2. Salt wasting and deafness resulting from mutations in two chloride channels.

Authors: Karl P Schlingmann; Martin Konrad; Nikola Jeck; Petra Waldegger; Stephan C Reinalter; Martin Holder; Hannsjörg W Seyberth; Siegfried Waldegger
Journal: N Engl J Med Date: 2004-03-25 Impact factor: 91.245

3. Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure.

Authors: R Birkenhäger; E Otto; M J Schürmann; M Vollmer; E M Ruf; I Maier-Lutz; F Beekmann; A Fekete; H Omran; D Feldmann; D V Milford; N Jeck; M Konrad; D Landau; N V Knoers; C Antignac; R Sudbrak; A Kispert; F Hildebrandt
Journal: Nat Genet Date: 2001-11 Impact factor: 38.330

Review 4. Salt handling in the distal nephron: lessons learned from inherited human disorders.

Authors: Nikola Jeck; Karl P Schlingmann; Stephan C Reinalter; Martin Kömhoff; Melanie Peters; Siegfried Waldegger; Hannsjörg W Seyberth
Journal: Am J Physiol Regul Integr Comp Physiol Date: 2005-04 Impact factor: 3.619

5. The neonatal variant of Bartter syndrome and deafness: preservation of renal function.

Authors: Hanna Shalev; Melly Ohali; Leonid Kachko; Daniel Landau
Journal: Pediatrics Date: 2003-09 Impact factor: 7.124

Review 6. Bartter syndrome.

Authors: Steven C Hebert
Journal: Curr Opin Nephrol Hypertens Date: 2003-09 Impact factor: 2.894

6 in total

4 in total

Barttin mutations in antenatal Bartter syndrome with sensorineural deafness.

1. Hypokalemic salt-losing tubulopathy with chronic renal failure and sensorineural deafness.

2. Salt wasting and deafness resulting from mutations in two chloride channels.

3. Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure.

Review 4. Salt handling in the distal nephron: lessons learned from inherited human disorders.

5. The neonatal variant of Bartter syndrome and deafness: preservation of renal function.

Review 6. Bartter syndrome.

1. Deletion of exons 2-4 in the BSND gene causes severe antenatal Bartter syndrome.

2. Tryptophan Scanning Mutagenesis Identifies the Molecular Determinants of Distinct Barttin Functions.

3. Disease-causing dysfunctions of barttin in Bartter syndrome type IV.

4. Physiology and pathophysiology of ClC-K/barttin channels.