Comprehensive analysis of two hotspot codons in the TUBB4B gene and associated phenotypes

Autor: Jan-Philipp Bodenbender, Valerio Marino, Julia Philipp, Anke Tropitzsch, Christoph Kernstock, Katarina Stingl, Melanie Kempf, Tobias B. Haack, Theresia Zuleger, Pascale Mazzola, Susanne Kohl, Nicole Weisschuh, Daniele Dell’Orco, Laura Kühlewein

Publikováno v: Scientific Reports, Vol 14, Iss 1, Pp 1-13 (2024)

Abstract Our purpose was to elucidate the genotype and ophthalmological and audiological phenotype in TUBB4B-associated inherited retinal dystrophy (IRD) and sensorineural hearing loss (SNHL), and to model the effects of all possible amino acid subst

Externí odkaz: https://doaj.org/article/8ed648043ce34aba9586e83dd5fbdd7c

Activities of the Right Temporo-Parieto-Occipital Junction Reflect Spatial Hearing Ability in Cochlear Implant Users

Autor: Eusebia Schäfer, Ana-Elena Vedoveli, Giulia Righetti, Philipp Gamerdinger, Marlies Knipper, Anke Tropitzsch, Hans-Otto Karnath, Christoph Braun, Yiwen Li Hegner

Publikováno v: Frontiers in Neuroscience, Vol 15 (2021)

Spatial hearing is critical for us not only to orient ourselves in space, but also to follow a conversation with multiple speakers involved in a complex sound environment. The hearing ability of people who suffered from severe sensorineural hearing l

Externí odkaz: https://doaj.org/article/da7e50d57d3b4754bfd862d97109c5e9

Age-Dependency of Neurite Outgrowth in Postnatal Mouse Cochlear Spiral Ganglion Explants

Autor: Claudia Frick, Stefan Fink, Dominik Schmidbauer, Francis Rousset, Holger Eickhoff, Anke Tropitzsch, Benedikt Kramer, Pascal Senn, Rudolf Glueckert, Helge Rask-Andersen, Karl-Heinz Wiesmüller, Hubert Löwenheim, Marcus Müller

Publikováno v: Brain Sciences, Vol 10, Iss 9, p 580 (2020)

Background: The spatial gap between cochlear implants (CIs) and the auditory nerve limits frequency selectivity as large populations of spiral ganglion neurons (SGNs) are electrically stimulated synchronously. To improve CI performance, a possible st

Externí odkaz: https://doaj.org/article/67d4f6d839774552a1c507b0d2e8e9a7

A new fitting-method for cochlear implant users based on stapedius-reflex measurements

Autor: Thore Schade-Mann, Damaris Platzer, Anke Tropitzsch, Julia Philipp, Dominik Riss, Rudolfs Liepins, Alice Auinger, Clemens Honeder

Publikováno v: Abstract- und Posterband - 93. Jahresversammlung der Deutschen Gesellschaft für HNO-Heilkunde, Kopf- und Hals-Chirurgie e.V., Bonn Interface - Fokus Mensch im Zeitalter der technisierten Medizin.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d62e1fe5b0640f185519b9713e613113
https://doi.org/10.1055/s-0042-1746801

Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss

Autor: Natalia Trpchevska, Maxim B. Freidin, Linda Broer, Berthe C. Oosterloo, Shuyang Yao, Yitian Zhou, Barbara Vona, Charles Bishop, Argyro Bizaki-Vallaskangas, Barbara Canlon, Fabio Castellana, Daniel I. Chasman, Stacey Cherny, Kaare Christensen, Maria Pina Concas, Adolfo Correa, Ran Elkon, Jonas Mengel-From, Yan Gao, Anne B.S. Giersch, Giorgia Girotto, Alexander Gudjonsson, Vilmundur Gudnason, Nancy L. Heard-Costa, Ronna Hertzano, Jacob v.B. Hjelmborg, Jens Hjerling-Leffler, Howard J. Hoffman, Jaakko Kaprio, Johannes Kettunen, Kristi Krebs, Anna K. Kähler, Francois Lallemend, Lenore J. Launer, I-Min Lee, Hampton Leonard, Chuan-Ming Li, Hubert Lowenheim, Patrik K.E. Magnusson, Joyce van Meurs, Lili Milani, Cynthia C. Morton, Antti Mäkitie, Mike A. Nalls, Giuseppe Giovanni Nardone, Marianne Nygaard, Teemu Palviainen, Sheila Pratt, Nicola Quaranta, Joel Rämö, Elmo Saarentaus, Rodolfo Sardone, Claudia L. Satizabal, John M. Schweinfurth, Sudha Seshadri, Eric Shiroma, Eldad Shulman, Eleanor Simonsick, Christopher Spankovich, Anke Tropitzsch, Volker M. Lauschke, Patrick F. Sullivan, Andre Goedegebure, Christopher R. Cederroth, Frances M.K. Williams, Andries Paul Nagtegaal, Andres Metspalu, Mari Nelis, Reedik Mägi, Tõnu Esko

Publikováno v: Trpchevska, N, Freidin, M B, Broer, L, Oosterloo, B C, Yao, S, Zhou, Y, Vona, B, Bishop, C, Bizaki-vallaskangas, A, Canlon, B, Castellana, F, Chasman, D I, Cherny, S, Christensen, K, Concas, M P, Correa, A, Elkon, R, Mengel-from, J, Gao, Y, Giersch, A B S, Girotto, G, Gudjonsson, A, Gudnason, V, Heard-costa, N L, Hertzano, R, Hjelmborg, J V B, Hjerling-leffler, J, Hoffman, H J, Kaprio, J, Kettunen, J, Krebs, K, Kähler, A K, Lallemend, F, Launer, L J, Lee, I, Leonard, H, Li, C, Lowenheim, H, Magnusson, P K E, Van Meurs, J, Milani, L, Morton, C C, Mäkitie, A, Nalls, M A, Nardone, G G, Nygaard, M, Palviainen, T, Pratt, S, Quaranta, N, Rämö, J, Saarentaus, E, Sardone, R, Satizabal, C L, Schweinfurth, J M, Seshadri, S, Shiroma, E, Shulman, E, Simonsick, E, Spankovich, C, Tropitzsch, A, Lauschke, V M, Sullivan, P F, Goedegebure, A, Cederroth, C R, Williams, F M K, Nagtegaal, A P, Metspalu, A, Nelis, M, Mägi, R & Esko, T 2022, ' Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss ', American Journal of Human Genetics . https://doi.org/10.1016/j.ajhg.2022.04.010
American Journal of Human Genetics, 109(6), 1077-1091. Cell Press
The American Journal of Human Genetics

Hearing loss is one of the top contributors to years lived with disability and is a risk factor for dementia. Molecular evidence on the cellular origins of hearing loss in humans is growing. Here, we performed a genome-wide association meta-analysis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::adc091fdf2ade424805f1d22909bade0
https://pubmed.ncbi.nlm.nih.gov/35580588