Zobrazeno 1 - 10
of 46
pro vyhledávání: '"Konrad Noben-Trauth"'
Publikováno v:
PLoS ONE, Vol 5, Iss 7, p e11459 (2010)
Progressive sensorineural hearing loss is the most common form of acquired hearing impairment in the human population. It is also highly prevalent in inbred strains of mice, providing an experimental avenue to systematically map genetic risk factors
Externí odkaz:
https://doaj.org/article/ce68551087e64df68f4f4a8aa4a27250
Publikováno v:
JARO: Journal of the Association for Research in Otolaryngology
Studies using inbred strains of mice have been invaluable for identifying alleles that adversely affect hearing. However, the efficacy of those studies is limited by the phenotypes that these strains express and the alleles that they segregate. Here,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dac7b6ff3152e80657fb4d3bd496f96d
https://doi.org/10.1007/s10162-011-0270-7
https://doi.org/10.1007/s10162-011-0270-7
Autor:
Joseph R. Latoche, Konrad Noben-Trauth
Publikováno v:
Journal of Biological Chemistry. 286:3079-3093
Inflammation of the middle ear cavity (otitis media) and the abnormal deposition of bone at the otic capsule are common causes of conductive hearing impairment in children and adults. Although a host of environmental factors can contribute to these c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86b10ef89b0a06d506bc5feca6084106
https://doi.org/10.1074/jbc.m110.184598
https://doi.org/10.1074/jbc.m110.184598
Autor:
Alexander F. J. van Aken, Konrad Noben-Trauth, Walter Marcotti, Richard J. Goodyear, Jane E. Bryant, Corné J. Kros, Margaret Atiba-Davies, Guy P. Richardson
Publikováno v:
The Journal of Physiology. 586:5403-5418
TRPML3 (mucolipin-3) belongs to one of the transient-receptor-potential (TRP) ion channel families. Mutations in the Trpml3 gene cause disorganization of the stereociliary hair bundle, structural aberrations in outer and inner hair cells and stria va
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9db77529946eb2924c8a19239f3f21fd
https://doi.org/10.1113/jphysiol.2008.156992
https://doi.org/10.1113/jphysiol.2008.156992
Publikováno v:
Hearing Research. 234:10-14
Fabry disease (OMIM 301500) is a rare X-linked recessive disorder caused by mutations in the alpha-galactosidase gene (Gla). Loss of Gla activity leads to the abnormal accumulation of glycosphingolipids in lysosomes of predominantly vascular endothel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47453e72ed790fc4a7d07f9f8f87e60f
https://doi.org/10.1016/j.heares.2007.08.009
https://doi.org/10.1016/j.heares.2007.08.009
Publikováno v:
Brain Research. 1091:79-88
Genetic modifiers can be detected in mice by looking for strain background differences in inheritance or phenotype of a mutation. They can be mapped by analyses of appropriate linkage crosses and congenic lines, and modifier genes of large effect can
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::652ea160d589bc95ba1856232dec672f
https://doi.org/10.1016/j.brainres.2006.02.021
https://doi.org/10.1016/j.brainres.2006.02.021
Publikováno v:
Genomics. 85:582-590
The human ortholog of the gene responsible for audiogenic seizure susceptibility in Frings and BUB/BnJ mice (mouse gene symbol Mass1) recently was shown to underlie Usher syndrome type IIC (USH2C). Here we report that the Mass1frings mutation is resp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9808829cc55173d55c41d17797e3f2f
https://doi.org/10.1016/j.ygeno.2005.02.006
https://doi.org/10.1016/j.ygeno.2005.02.006
Publikováno v:
Genomics. 73:338-342
Modifier-of-deafwaddler (mdfw) and waltzer (Cdh23v) are loci on mouse chromosome 10 encoding factors that are essential for the function of auditory hair cells. The BALB/cByJ-specific mdfw allele encodes a necessary and sufficient modifier that induc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7446be2699f3062795c1517ae05d57a4
https://doi.org/10.1006/geno.2001.6538
https://doi.org/10.1006/geno.2001.6538
Autor:
Federica Di Palma, Bechara Kachar, Karen P. Steel, Inna A. Belyantseva, Konrad Noben-Trauth, Ralph H. Holme, Richard Pellegrino, Elizabeth C. Bryda
Publikováno v:
Nature Genetics. 27:103-107
Mouse chromosome 10 harbors several loci associated with hearing loss, including waltzer (v), modifier-of deaf waddler (mdfw) and Age-related hearing loss1 (Ahl). The human region that is orthologous to the mouse 'waltzer' region is located at 10q21
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e4f249e58d93d8ee6b351749c8d5f13
https://doi.org/10.1038/83660
https://doi.org/10.1038/83660
Autor:
Tomasz Jarema Kowalski, Małgorzata Pawełczyk, Konrad Noben-Trauth, Mariola Sliwinska-Kowalska
Publikováno v:
American Journal of Human Biology. 20:481-483
Single nucleotide polymorphisms (SNPs) are the most frequent type of variation in the human genome and may underlie differential susceptibility to common genetic diseases. A candidate gene for susceptibility to noise-induced hearing loss (NIHL) is Ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::128f155a896931559d4c5d7fa6c437b7
https://doi.org/10.1002/ajhb.20744
https://doi.org/10.1002/ajhb.20744