Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease

Autor: Theru A. Sivakumaran, Marci M. Lesperance, Terry-Lynn Young, Jody M.W. van den Ouweland, Guy Van Camp, Richard J.H. Smith, Cor W. R. J. Cremers, Kris Flothmann, Ronald J.E. Pennings, Kim Cryns

Publikováno v: Human Mutation, 22, 275-87
Human Mutation, 22(4), 275-287. Wiley
Human Mutation, 22, 4, pp. 275-87
Human mutation

WFS1 is a novel gene and encodes an 890 amino-acid glycoprotein (wolframin), predominantly localized in the endoplasmic reticulum. Mutations in WFS1 underlie autosomal recessive Wolfram syndrome and autosomal dominant low frequency sensorineural hear

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::663db16f5c08d2f7f40ed5bb2bb2c09c
https://research.rug.nl/en/publications/99143124-ec22-4e44-8211-a7d7a1c3d06d

Is DFNA5 a susceptibility gene for age-related hearing impairment?

Autor: Kris Flothmann, Anita L. DeStefano, Sofie Thys, Erik Fransen, Lut Van Laer, Richard H. Myers, George A. Gates, Clinton T. Baldwin, Guy Van Camp

Publikováno v: European journal of human genetics

A mutation in DFNA5 leads to a type of hearing loss that closely resembles the frequently observed age-related hearing impairment (ARHI). The hearing loss is sensorineural, progressive and starts at the high frequencies. As DFNA5 was considered an ex

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e9db55897d04dd234d6fca4b6ee11d5
https://doi.org/10.1038/sj.ejhg.5200878

A novel Z-score-based method to analyze candidate genes for age-related hearing impairment

Autor: Nele Lemkens, Lut Van Laer, Paul J. Govaerts, Paul Van de Heyning, Kris Flothmann, Guy Van Camp, Erik Fransen, Goele Caethoven

Publikováno v: Ear and hearing

Objective Approximately half of the variance of Age-Related Hearing Impairment (ARHI) is attributable to environmental risk factors, and the other half to genetic factors. None of these genes has ever been identified, but the genes involved in monoge

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6af667c1b3184a8cf1d68168eb50218
https://pubmed.ncbi.nlm.nih.gov/15064658

The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe

Autor: Francesco Testa, N Hemmrich, G. Van Camp, R Santoss, J. C. Kaplan, S. Ingvast, Kris Flothmann, Francesca Simonelli, E Paloma, Carel B. Hoyng, Michele D'Urso, Alessandra Maugeri, Andres Metspalu, Reshma Patel, Paula Jorge, C Wadelius, Roser Gonzàlez-Duarte, Shomi S. Bhattacharya, Han G. Brunner, A C Bird, J Tammur, F. P. M. Cremers, Gjt Meerman, Susana Balcells, Jean-Michel Rozet, Marianne Schwartz, Bhf Weber, Rando Allikmets

Publikováno v: EUROPEAN JOURNAL OF HUMAN GENETICS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
European journal of human genetics
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
European Journal of Human Genetics, 10, 197-203
European Journal of Human Genetics, 10, 3, pp. 197-203
European Journal of Human Genetics, 10(3), 197-203. Nature Publishing Group

Item does not contain fulltext Inherited retinal dystrophies represent the most important cause of vision impairment in adolescence, affecting approximately 1 out of 3000 individuals. Mutations of the photoreceptor-specific gene ABCA4 (ABCR) are a co

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb6684b3297602d0c73d8b7733d5e5dc
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=11694

Determination of the carrier frequency of the common GJB2 (connexin-26) 35delG mutation in the Belgian population using an easy and reliable screening method

Autor: Sandra Willocx, Katrien Storm, Guy Van Camp, Kris Flothmann

Publikováno v: Human mutation

Mutations in the gene GJB2, encoding the gap-junction protein connexin-26, have been shown to be a major cause of nonsyndromic recessive deafness (NSRD). A single mutation in the GJB2 gene accounts for the majority of NSRD in many different populatio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9632f868e4d3d3a3066e780e7ace4db
https://pubmed.ncbi.nlm.nih.gov/10477435