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Literature DB >> 15365806

Genetic disorders of transporters/channels in the inner ear and their relation to the kidney.

Theo A Peters¹, Leo A H Monnens, Cor W R J Cremers, Jo H A J Curfs.

Abstract

Inner ear physiology is reviewed with emphasis on features common to renal physiology. Genetic disorders in transporters/channels for chloride (ClC-K), bicarbonate (Cl(-)/HCO(3)(-) exchanger), protons (H(+)-ATPase), sodium (ENaC, NKKC1, NBC3, NHE3), potassium (KCNQ1/KCNE1, Kcc4), and water (AQP4) in the inner ear and their relation to the kidney are discussed. Based on data from human disorders (with or without mouse counterparts) and mouse models (without human counterparts) this article focuses on the involvement of these transporters/channels in hearing loss.

Entities: Chemical Disease Gene Species

Mesh：

Substances：

Year: 2004 PMID： 15365806 DOI： 10.1007/s00467-004-1626-6

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

49 in total

1. Changes in ultrastructural characteristics of endolymphatic sac ribosome-rich cells of the rat during development.

Authors: Theo A Peters; Edith L G M Tonnaer; Wim Kuijpers; Jo H A J Curfs
Journal: Hear Res Date: 2003-02 Impact factor: 3.208

2. Localization of pH regulating proteins H+ATPase and Cl-/HCO3- exchanger in the guinea pig inner ear.

Authors: K M Stanković; D Brown; S L Alper; J C Adams
Journal: Hear Res Date: 1997-12 Impact factor: 3.208

3. Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome.

Authors: L A Everett; I A Belyantseva; K Noben-Trauth; R Cantos; A Chen; S I Thakkar; S L Hoogstraten-Miller; B Kachar; D K Wu; E D Green
Journal: Hum Mol Genet Date: 2001-01-15 Impact factor: 6.150

4. Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.

Authors: E H Stover; K J Borthwick; C Bavalia; N Eady; D M Fritz; N Rungroj; A B S Giersch; C C Morton; P R Axon; I Akil; E A Al-Sabban; D M Baguley; S Bianca; A Bakkaloglu; Z Bircan; D Chauveau; M-J Clermont; A Guala; S A Hulton; H Kroes; G Li Volti; S Mir; H Mocan; A Nayir; S Ozen; J Rodriguez Soriano; S A Sanjad; V Tasic; C M Taylor; R Topaloglu; A N Smith; F E Karet
Journal: J Med Genet Date: 2002-11 Impact factor: 6.318

5. Deafness and imbalance associated with inactivation of the secretory Na-K-2Cl co-transporter.

Authors: E Delpire; J Lu; R England; C Dull; T Thorne
Journal: Nat Genet Date: 1999-06 Impact factor: 38.330

6. Deafness and renal tubular acidosis in mice lacking the K-Cl co-transporter Kcc4.

Authors: Thomas Boettger; Christian A Hübner; Hannes Maier; Marco B Rust; Franz X Beck; Thomas J Jentsch
Journal: Nature Date: 2002-04-25 Impact factor: 49.962

Review 7. Ototoxicity of loop diuretics.

Authors: L P Rybak
Journal: Otolaryngol Clin North Am Date: 1993-10 Impact factor: 3.346

8. Morphology of auditory hair cells in guinea pig cochlea after transgene expression.

Authors: Demin Han; Zilong Yu; Erzhong Fan; Chan Liu; Sha Liu; Ying Li; Zhongyan Liu
Journal: Hear Res Date: 2004-04 Impact factor: 3.208

9. Barttin increases surface expression and changes current properties of ClC-K channels.

Authors: Siegfried Waldegger; Nikola Jeck; Petra Barth; Melanie Peters; Helga Vitzthum; Konrad Wolf; Armin Kurtz; Martin Konrad; Hannsjörg W Seyberth
Journal: Pflugers Arch Date: 2002-04-09 Impact factor: 3.657

10. The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro.

Authors: Michel Guipponi; Grégoire Vuagniaux; Marie Wattenhofer; Kazunori Shibuya; Maria Vazquez; Loretta Dougherty; Nathalie Scamuffa; Elizabeth Guida; Michiyo Okui; Colette Rossier; Manuela Hancock; Karine Buchet; Alexandre Reymond; Edith Hummler; Phillip L Marzella; Jun Kudoh; Nobuyoshi Shimizu; Hamish S Scott; Stylianos E Antonarakis; Bernard C Rossier
Journal: Hum Mol Genet Date: 2002-11-01 Impact factor: 6.150

13 in total

1. Postnatal developmental expression of the PDZ scaffolds Na+ -H+ exchanger regulatory factors 1 and 2 in the rat cochlea.

Authors: Refik Kanjhan; Deanne H Hryciw; C Chris Yun; Mark C Bellingham; Philip Poronnik
Journal: Cell Tissue Res Date: 2005-09-14 Impact factor: 5.249

2. Structural models for the KCNQ1 voltage-gated potassium channel.

Authors: Jarrod A Smith; Carlos G Vanoye; Alfred L George; Jens Meiler; Charles R Sanders
Journal: Biochemistry Date: 2007-11-14 Impact factor: 3.162

3. Abnormal basement membrane in the inner ear and the kidney of the Mpv17-/- mouse strain: ultrastructural and immunohistochemical investigations.

Authors: Angela M Meyer zum Gottesberge; Heidi Felix
Journal: Histochem Cell Biol Date: 2005-07-26 Impact factor: 4.304

Review 4. Distal renal tubular acidosis: genetic causes and management.

Authors: Sílvia Bouissou Morais Soares; Luiz Alberto Wanderley de Menezes Silva; Flávia Cristina de Carvalho Mrad; Ana Cristina Simões E Silva
Journal: World J Pediatr Date: 2019-05-11 Impact factor: 2.764

5. Reconstitution of KCNE1 into lipid bilayers: comparing the structural, dynamic, and activity differences in micelle and vesicle environments.

Authors: Aaron T Coey; Indra D Sahu; Thusitha S Gunasekera; Kaylee R Troxel; Jaclyn M Hawn; Max S Swartz; Marilyn R Wickenheiser; Ro-jay Reid; Richard C Welch; Carlos G Vanoye; Congbao Kang; Charles R Sanders; Gary A Lorigan
Journal: Biochemistry Date: 2011-11-22 Impact factor: 3.162