1 to 10 of 33 literature results

• Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy.

  Auditory neuropathy is a particular type of hearing impairment in which neural transmission of the auditory signal is impaired, while cochlear outer h…

  Authors: Sedigheh Delmaghani, Francisco J del Castillo, Vincent Michel, Michel Leibovici, Asadollah Aghaie, Uri Ron, Lut Van Laer, Nir Ben-Tal, Guy Van Camp, Dominique Weil,…

  Source: Nature genetics. 2006 Jul

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• Human hereditary hearing impairment: mouse models can help to solve the puzzle.

  Mouse models are important research tools in the discovery of genes for syndromic as well as non-syndromic forms of hearing impairment. The similarity…

  Authors: Karen Vrijens, Lut Van Laer, Guy Van Camp

  Source: Human genetics. 2008 Nov

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• Characterization of the murine Dfna5 promoter and regulatory regions.

  Mutations in DFNA5 cause a non-syndromic autosomal dominant type of hearing loss. Although not much is known regarding the physiological function of D…

  Authors: Karen Vrijens, Guy Van Camp, Lut Van Laer

  Source: Gene. 2009 Mar 1

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• Genome-wide SNP-based linkage scan identifies a locus on 8q24 for an age-related hearing impairment trait.

  Age-related hearing impairment (ARHI), or presbycusis, is a very common multifactorial disorder. Despite the knowledge that genetics play an important…

  Authors: Jeroen R Huyghe, Lut Van Laer, Jan-Jaap Hendrickx, Erik Fransen, Kelly Demeester, Vedat Topsakal, Sylvia Kunst, Minna Manninen, Mona Jensen, Amanda Bonaconsa,…

  Source: American journal of human genetics. 2008 Sep

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• Association between variations in CAT and noise-induced hearing loss in two independent noise-exposed populations.

  Noise-induced hearing loss (NIHL) is an important occupational hazard that results from an interaction between genetic and environmental factors. Alth…

  Authors: Annelies Konings, Lut Van Laer, Malgorzata Pawelczyk, Per-Inge Carlsson, Marie-Louise Bondeson, Elzbieta Rajkowska, Adam Dudarewicz, Ann Vandevelde, Erik Fransen, Jeroen Huyghe,…

  Source: Human molecular genetics. 2007 Aug 1

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• GRM7 variants confer susceptibility to age-related hearing impairment.

  Age-related hearing impairment (ARHI), or presbycusis, is the most prevalent sensory impairment in the elderly. ARHI is a complex disease caused by an…

  Authors: Rick A Friedman, Lut Van Laer, Matthew J Huentelman, Sonal S Sheth, Els Van Eyken, Jason J Corneveaux, Waibhav D Tembe, Rebecca F Halperin, Ashley Q Thorburn, Sofie Thys,…

  Source: Human molecular genetics. 2009 Feb 15

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• Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region.

  Mutations in ABCC6 cause pseudoxanthoma elasticum (PXE), a heritable disease that affects elastic fibers. Thus far, >200 mutations have been character…

  Authors: Laura M F Costrop, Olivier O M Vanakker, Lut Van Laer, Olivier Le Saux, Ludovic Martin, Nicolas Chassaing, Deanna Guerra, Ivonne Pasquali-Ronchetti, Paul J Coucke, Anne De Paepe

  Source: Journal of human genetics. 2010 Feb

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• Evaluation of host genetic and viral factors as surrogate markers for HTLV-1-associated myelopathy/tropical spastic paraparesis in Peruvian HTLV-1-infected patients.

  Human T-lymphotropic virus 1 (HTLV-1)-associated myelopathy/tropical spastic paraparesis (HAM/TSP) is a complication that affects up to 5% of HTLV-1-i…

  Authors: Michael Talledo, Giovanni López, Jeroen R Huyghe, Kristien Verdonck, Vanessa Adaui, Elsa González, Iván Best, Daniel Clark, Guido Vanham, Eduardo Gotuzzo,…

  Source: Journal of medical virology. 2010 Mar

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• The contribution of genes involved in potassium-recycling in the inner ear to noise-induced hearing loss.

  Noise-induced hearing loss (NIHL) is one of the most important occupational diseases and, after presbyacusis, the most frequent cause of hearing loss.…

  Authors: Lut Van Laer, Per-Inge Carlsson, Natacha Ottschytsch, Marie-Louise Bondeson, Annelies Konings, Ann Vandevelde, Nele Dieltjens, Erik Fransen, Dirk Snyders, Erik Borg,…

  Source: Human mutation. 2006 Aug

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• Analysis of gene polymorphisms associated with K ion circulation in the inner ear of patients susceptible and resistant to noise-induced hearing loss.

  Noise-induced hearing loss (NIHL) is one of the leading occupational health risks in industrialized countries. It results from an interaction between …

  Authors: Malgorzata Pawelczyk, Lut Van Laer, Erik Fransen, Elzbieta Rajkowska, Annelies Konings, Per-Inge Carlsson, Erik Borg, Guy Van Camp, Mariola Sliwinska-Kowalska

  Source: Annals of human genetics. 2009 Jul

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