Zobrazeno 1 - 6
of 6
pro vyhledávání: '"genetics [Hearing Loss]"'
Autor:
Jan De Bleecker, David Creytens, Matias Wagner, Sophie Walraedt, Christiane Neuhofer, Kirsten A. Wunderlich, Almut Turid Bischoff, Irina Balikova, Gabriele Holtappels, Bart P. Leroy, Pietro Farinelli, Thalia Van Laethem, Konstantinos Nikopoulos, Thomas Klopstock, Frank Peelman, Claus Bachert, Lara Derycke, Nina Lambrechts, Sarah De Jaegere, Jan Gerris, Riet De Rycke, Lotte B. Pedersen, Frauke Coppieters, Carlo Rivolta, Giulia Ascari, Elfride De Baere, Toon Rosseel, Pernille Martens, Brecht Guillemyn, Jo Van Dorpe, Olga Krysko
Publikováno v:
Human mutation 41(5), 998-1011 (2020). doi:10.1002/humu.23993
Human Mutation
HUMAN MUTATION
Ascari, G, Peelman, F, Farinelli, P, Rosseel, T, Lambrechts, N, Wunderlich, K A, Wagner, M, Nikopoulos, K, Martens, P, Balikova, I, Derycke, L, Holtappels, G, Krysko, O, Van Laethem, T, De Jaegere, S, Guillemyn, B, De Rycke, R, De Bleecker, J, Creytens, D, Van Dorpe, J, Gerris, J, Bachert, C, Neuhofer, C, Walraedt, S, Bischoff, A, Pedersen, L B, Klopstock, T, Rivolta, C, Leroy, B P, De Baere, E & Coppieters, F 2020, ' Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss and reduced male fertility ', Human Mutation, vol. 41, no. 5, pp. 998-1011 . https://doi.org/10.1002/humu.23993
Human Mutation
HUMAN MUTATION
Ascari, G, Peelman, F, Farinelli, P, Rosseel, T, Lambrechts, N, Wunderlich, K A, Wagner, M, Nikopoulos, K, Martens, P, Balikova, I, Derycke, L, Holtappels, G, Krysko, O, Van Laethem, T, De Jaegere, S, Guillemyn, B, De Rycke, R, De Bleecker, J, Creytens, D, Van Dorpe, J, Gerris, J, Bachert, C, Neuhofer, C, Walraedt, S, Bischoff, A, Pedersen, L B, Klopstock, T, Rivolta, C, Leroy, B P, De Baere, E & Coppieters, F 2020, ' Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss and reduced male fertility ', Human Mutation, vol. 41, no. 5, pp. 998-1011 . https://doi.org/10.1002/humu.23993
Inactivating variants in the centrosomal CEP78 gene have been found in cone-rod dystrophy with hearing loss (CRDHL), a particular phenotype distinct from Usher syndrome. Here, we identified and functionally characterized the first CEP78 missense vari
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::196f4251d9acc06335a2b6535feb8fc9
Autor:
Anna Papazoglou, Maheshwar Bakki, Christina Henseler, Ralf Müller, Muhammad Imran Arshaad, Robin Seidel, Julien Soos, Jürgen Hescheler, Marco Weiergräber, Carola Wormuth, Agapios Sachinidis, Andreas Lundt, Dan Ehninger, Karl Broich
Publikováno v:
Neuroscience 409, 81-100 (2019). doi:10.1016/j.neuroscience.2019.04.024
Voltage-gated Ca2+ channels (VGCCs) play key roles in auditory perception and information processing within the inner ear and brainstem. Pharmacological inhibition of low voltage-activated (LVA) T-type Ca2+ channels is related to both age- and noise
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5fe4a84ad80d82f24d0820b5ca57b905
Publikováno v:
Stem cell research 17(2), 426-429 (2016). doi:10.1016/j.scr.2016.09.012
Stem Cell Research, Vol 17, Iss 2, Pp 426-429 (2016)
Stem Cell Research, Vol 17, Iss 2, Pp 426-429 (2016)
Human skin fibroblasts were isolated from a 48-year-old patient carrying compound heterozygous mutations (c.610+364G>A and c.1311A>G) in OPA1, responsible for early onset optic atrophy complicated by ataxia and pyramidal signs (Behr syndrome; OMIM #2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::268ee42e0c12b0f276df3a49d6a68e95
https://pub.dzne.de/record/138916
https://pub.dzne.de/record/138916
Autor:
Michela Giustizieri, Alessandro Terrinoni, Valeria Serra, Elena Campione, Marco Alessandrini, Andrea Codispoti, Robert Nisticò, Biagio Didona, Ernesto Bruno, Gerry Melino
Publikováno v:
Biochemical and Biophysical Research Communications. 394:909-914
The autosomic dominant KID Syndrome (MIM 148210), due to mutations in GJB2 (connexin 26, Cx26), is an ectodermal dysplasia with erythematous scaly skin lesions, keratitis and severe bilateral sensorineural deafness. The Cx26 protein is a component of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6dfd0349a3edfab4aa06620c72b3cf49
https://doi.org/10.1016/j.bbrc.2010.03.073
https://doi.org/10.1016/j.bbrc.2010.03.073
Autor:
Synofzik, Matthis, Müller vom Hagen, Jennifer, Haack, Tobias B, Wilhelm, Christian, Lindig, Tobias, Beck-Wödl, Stefanie, Nabuurs, Sander B, van Kuilenburg, André BP, de Brouwer, Arjan PM, Schöls, Ludger
Publikováno v:
Orphanet journal of rare diseases 9(1), 24 (2014). doi:10.1186/1750-1172-9-24
Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases, 9(1). BioMed Central
Orphanet Journal of Rare Diseases; Vol 9
Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases, 9(1). BioMed Central
Orphanet Journal of Rare Diseases; Vol 9
Background X-linked Charcot-Marie-Tooth disease type 5 (CMTX5), Arts syndrome, and non-syndromic sensorineural deafness (DFN2) are allelic syndromes, caused by reduced activity of phosphoribosylpyrophosphate synthetase 1 (PRS-I) due to loss-of-functi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::e9b6095e529d2908902c29fe01c5cb03