A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment.

Autor: Mette Nyegaard, Nanna D Rendtorff, Morten S Nielsen, Thomas J Corydon, Ditte Demontis, Anna Starnawska, Anne Hedemand, Annalisa Buniello, Francesco Niola, Michael T Overgaard, Suzanne M Leal, Wasim Ahmad, Friedrik P Wikman, Kirsten B Petersen, Dorthe G Crüger, Jaap Oostrik, Hannie Kremer, Niels Tommerup, Morten Frödin, Karen P Steel, Lisbeth Tranebjærg, Anders D Børglum

Publikováno v: PLoS Genetics, Vol 11, Iss 7, p e1005386 (2015)

Nonsyndromic hearing impairment (NSHI) is a highly heterogeneous condition with more than eighty known causative genes. However, in the clinical setting, a large number of NSHI families have unexplained etiology, suggesting that there are many more g

Externí odkaz: https://doaj.org/article/c3cde509dda1488686ad20653467c3ea

Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing Loss

Autor: Giulia Ascari, Nanna D. Rendtorff, Marieke De Bruyne, Julie De Zaeytijd, Michel Van Lint, Miriam Bauwens, Mattias Van Heetvelde, Gavin Arno, Julie Jacob, David Creytens, Jo Van Dorpe, Thalia Van Laethem, Toon Rosseel, Tim De Pooter, Peter De Rijk, Wouter De Coster, Björn Menten, Alfredo Dueñas Rey, Mojca Strazisar, Mette Bertelsen, Lisbeth Tranebjaerg, Elfride De Baere

Publikováno v: Frontiers in Cell and Developmental Biology, Vol 9 (2021)

Inactivating variants as well as a missense variant in the centrosomal CEP78 gene have been identified in autosomal recessive cone-rod dystrophy with hearing loss (CRDHL), a rare syndromic inherited retinal disease distinct from Usher syndrome. Apart

Externí odkaz: https://doaj.org/article/483ae383a34a48e1a6bbe9032362f8b3

Mutations in BCOR , a co-repressor of CRX/OTX2 , are associated with early-onset retinal degeneration

Autor: Maéva Langouët, Christine Jolicoeur, Awais Javed, Pierre Mattar, Micah D. Gearhart, Stephen P. Daiger, Mette Bertelsen, Lisbeth Tranebjærg, Nanna D. Rendtorff, Karen Grønskov, Catherine Jespersgaard, Rui Chen, Zixi Sun, Hui Li, Najmeh Alirezaie, Jacek Majewski, Vivian J. Bardwell, Ruifang Sui, Robert K. Koenekoop, Michel Cayouette

Publikováno v: Science Advances. 8

Many transcription factors regulating the production, survival, and function of photoreceptor cells have been identified, but little is known about transcriptional co-regulators in retinal health and disease. Here, we show that BCL6 co-repressor (BCO

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::76424388799c8d3c69b887e5c430c544
https://doi.org/10.1126/sciadv.abh2868

Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder

Autor: María Domínguez-Ruiz, Montserrat Rodríguez-Ballesteros, Marta Gandía, Elena Gómez-Rosas, Manuela Villamar, Pietro Scimemi, Patrizia Mancini, Nanna D. Rendtorff, Miguel A. Moreno-Pelayo, Lisbeth Tranebjaerg, Carme Medà, Rosamaria Santarelli, Ignacio del Castillo

Publikováno v: Domínguez-Ruiz, M, Rodríguez-Ballesteros, M, Gandía, M, Gómez-Rosas, E, Villamar, M, Scimemi, P, Mancini, P, Rendtorff, N D, Moreno-Pelayo, M A, Tranebjaerg, L, Medà, C, Santarelli, R & Del Castillo, I 2022, ' Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder ', Genes, vol. 13, no. 1, 149 . https://doi.org/10.3390/genes13010149
Genes, Vol 13, Iss 149, p 149 (2022)
Genes; Volume 13; Issue 1; Pages: 149

Pathogenic variants in the PJVK gene cause the DFNB59 type of autosomal recessive non-syndromic hearing impairment (AR-NSHI). Phenotypes are not homogeneous, as a few subjects show auditory neuropathy spectrum disorder (ANSD), while others show cochl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47560eabd096824ebcabfc1a1d8d84bc
https://curis.ku.dk/portal/da/publications/novel-pathogenic-variants-in-pjvk-the-gene-encoding-pejvakin-in-subjects-with-autosomal-recessive-nonsyndromic-hearing-impairment-and-auditory-neuropathy-spectrum-disorder(4927f0c2-ea26-491c-9e25-f2e425ee6235).html

A common

Autor: Parna, Chattaraj, Tina, Munjal, Keiji, Honda, Nanna D, Rendtorff, Jessica S, Ratay, Julie A, Muskett, Davide S, Risso, Isabelle, Roux, E Michael, Gertz, Alejandro A, Schäffer, Thomas B, Friedman, Robert J, Morell, Lisbeth, Tranebjærg, Andrew J, Griffith

Publikováno v: Journal of medical genetics. 54(10)

Enlargement of the vestibular aqueduct (EVA) is the most common radiological abnormality in children with sensorineural hearing loss. Mutations in coding regions and splice sites of theWe performed genotype-haplotype analysis and massively parallel s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::a02c61f80d894cc7b901ae3bc97a17a3
https://pubmed.ncbi.nlm.nih.gov/30287598