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Sökning: onr:"swepub:oai:DiVA.org:oru-63471" > The grainyhead like...

The grainyhead like 2 gene (GRHL2), alias TFCP2L3, is associated with age-related hearing impairment

Van Laer, Lut (författare)
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
Van Eyken, Els (författare)
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
Fransen, Erik (författare)
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
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Huyghe, Jeroen R. (författare)
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
Topsakal, Vedat (författare)
Department of Otorhinolaryngology, University Hospital of Antwerp, Antwerp, Belgium
Hendrickx, Jan-Jaap (författare)
Department of Otorhinolaryngology, University Hospital of Antwerp, Antwerp, Belgium; Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands
Hannula, Samuli (författare)
Department of Otorhinolaryngology, University of Oulu, Oulu, Finland
Mäki-Torkko, Elina, 1961- (författare)
Östergötlands Läns Landsting,Linköpings universitet,Örebro universitet,Institutionen för medicinska vetenskaper,Department of Otorhinolaryngology, University of Oulu, Oulu, Finland,Hälsouniversitetet,Öronkliniken US
Jensen, Mona (författare)
Department of Audiology, Bispebjerg Hospital, Copenhagen, Denmark
Demeester, Kelly (författare)
Department of Otorhinolaryngology, University Hospital of Antwerp, Antwerp, Belgium
Baur, Manuela (författare)
Department of Otorhinolaryngology, University of Tübingen, Tübingen, Germany
Bonaconsa, Amanda (författare)
Department of Oto-Surgery, University Hospital Padova, Padova, Italy
Mazzoli, Manuela (författare)
Department of Oto-Surgery, University Hospital Padova, Padova, Italy
Espeso, Angeles (författare)
Welsh Hearing Institute, Cardiff University, Cardiff, United Kingdom,Cardiff University, UK
Verbruggen, Katia (författare)
Department of Otorhinolaryngology, University Hospital of Ghent, Ghent, Belgium
Huyghe, Joke (författare)
Department of Otorhinolaryngology, University Hospital of Ghent, Ghent, Belgium
Huygen, Patrick (författare)
Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands,Radboud University Nijmegen Medical Centre, The Netherlands
Kunst, Sylvia (författare)
Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands,Radboud University Nijmegen Medical Centre, The Netherlands
Manninen, Minna (författare)
Department of Otorhinolaryngology, University of Tampere, Tampere, Finland
Konings, Annelies (författare)
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
Diaz-Lacava, Amalia N. (författare)
Institute of Medical Biometry, Informatics and Epidemiology, University of Bonn, Bonn, Germany
Steffens, Michael (författare)
Institute of Medical Biometry, Informatics and Epidemiology, University of Bonn, Bonn, Germany
Wienker, Thomas F. (författare)
Institute of Medical Biometry, Informatics and Epidemiology, University of Bonn, Bonn, Germany
Pyykkö, Ilmari (författare)
Department of Otorhinolaryngology, University of Tampere, Tampere, Finland
Cremers, Cor W. R. J. (författare)
Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands,Radboud University Nijmegen Medical Centre, The Netherlands
Kremer, Hannie (författare)
Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands,Radboud University Nijmegen Medical Centre, The Netherlands
Dhooge, Ingeborg (författare)
Department of Otorhinolaryngology, University Hospital of Ghent, Ghent, Belgium
Stephens, Dafydd (författare)
Welsh Hearing Institute, Cardiff University, Cardiff, United Kingdom,Cardiff University, UK
Orzan, Eva (författare)
Department of Oto-Surgery, University Hospital Padova, Padova, Italy
Pfister, Markus (författare)
Department of Otorhinolaryngology, University of Tübingen, Tübingen, Germany
Bille, Michael (författare)
Department of Audiology, Bispebjerg Hospital, Copenhagen, Denmark
Parving, Agnete (författare)
Department of Audiology, Bispebjerg Hospital, Copenhagen, Denmark
Sorri, Martti (författare)
Department of Otorhinolaryngology, University of Oulu, Oulu, Finland
Van de Heyning, Paul H. (författare)
Department of Otorhinolaryngology, University Hospital of Antwerp, Antwerp, Belgium
Van Camp, Guy (författare)
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
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 (creator_code:org_t)
2007-10-06
2008
Engelska.
Ingår i: Human Molecular Genetics. - : Oxford University Press. - 0964-6906 .- 1460-2083. ; 17:2, s. 159-169
Relaterad länk:
https://academic.oup...
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https://urn.kb.se/re...
https://doi.org/10.1...
https://urn.kb.se/re...
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  • Tidskriftsartikel (refereegranskat)
Abstract Ämnesord
Stäng  
  • Age-related hearing impairment (ARHI) is the most prevalent sensory impairment in the elderly. ARHI is a complex disease caused by an interaction between environmental and genetic factors. The contribution of various environmental factors has been relatively extensively studied. In contrast, investigations to identify the genetic risk factors have only recently been initiated. In this paper we describe the results of an association study performed on 2418 ARHI samples derived from nine centers from seven European countries. In 70 candidate genes, a total of 768 tag single nucleotide polymorphisms (SNPs) were selected based on HAPMAP data. These genes were chosen among the monogenic hearing loss genes identified in mice and men in addition to several strong functional candidates. After genotyping and data polishing, statistical analysis of all samples combined resulted in a P-value that survived correction for multiple testing for one SNP in the GRHL2 gene. Other SNPs in this gene were also associated, albeit to a lesser degree. Subsequently, an analysis of the most significant GRHL2 SNP was performed separately for each center. The direction of the association was identical in all nine centers. Two centers showed significant associations and a third center showed a trend towards significance. Subsequent fine mapping of this locus demonstrated that the majority of the associated SNPs reside in intron 1. We hypothesize that the causative variant may change the expression levels of a GRHL2 isoform.

Ämnesord

MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Medical Genetics (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP  -- Annan medicin och hälsovetenskap -- Gerontologi, medicinsk/hälsovetenskaplig inriktning (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Other Medical and Health Sciences -- Gerontology, specialising in Medical and Health Sciences (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Oto-rhino-laryngologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Otorhinolaryngology (hsv//eng)

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