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A mutation in SLC22A4 encoding an organic cation transporter expressed in the cochlea strial endothelium causes human recessive non-syndromic hearing loss DFNB60.
Ben Said, Mariem; Grati, M'hamed; Ishimoto, Takahiro; Zou, Bing; Chakchouk, Imen; Ma, Qi; Yao, Qi; Hammami, Bouthaina; Yan, Denise; Mittal, Rahul; Nakamichi, Noritaka; Ghorbel, Abdelmonem; Neng, Lingling; Tekin, Mustafa; Shi, Xiao Rui; Kato, Yukio; Masmoudi, Saber; Lu, Zhongmin; Hmani, Mounira; Liu, Xuezhong.
Afiliação
  • Ben Said M; Laboratoire Procédés de Criblage Moléculaire et Cellulaire, Centre de Biotechnologie de Sfax, Université de Sfax, Route sidimansour Km 6, BP '1177', 3018, Sfax, Tunisia.
  • Grati M; Department of Otolaryngology (D-48), University of Miami Miller School of Medicine, 1666 NW 12th Avenue, Miami, FL, 33136, USA.
  • Ishimoto T; Faculty of Pharmacy, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University, Kanazawa, Ishikawa, 920-1192, Japan.
  • Zou B; Department of Otolaryngology (D-48), University of Miami Miller School of Medicine, 1666 NW 12th Avenue, Miami, FL, 33136, USA.
  • Chakchouk I; Laboratoire Procédés de Criblage Moléculaire et Cellulaire, Centre de Biotechnologie de Sfax, Université de Sfax, Route sidimansour Km 6, BP '1177', 3018, Sfax, Tunisia.
  • Ma Q; Department of Otolaryngology (D-48), University of Miami Miller School of Medicine, 1666 NW 12th Avenue, Miami, FL, 33136, USA.
  • Yao Q; Department of Otolaryngology (D-48), University of Miami Miller School of Medicine, 1666 NW 12th Avenue, Miami, FL, 33136, USA.
  • Hammami B; Department of Biology, University of Miami, Miami, FL, 33146, USA.
  • Yan D; Service Otorhinolaryngologie, Hôpital Universitaire Habib Bourguiba, Sfax, Tunisia.
  • Mittal R; Department of Otolaryngology (D-48), University of Miami Miller School of Medicine, 1666 NW 12th Avenue, Miami, FL, 33136, USA.
  • Nakamichi N; Department of Otolaryngology (D-48), University of Miami Miller School of Medicine, 1666 NW 12th Avenue, Miami, FL, 33136, USA.
  • Ghorbel A; Faculty of Pharmacy, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University, Kanazawa, Ishikawa, 920-1192, Japan.
  • Neng L; Service Otorhinolaryngologie, Hôpital Universitaire Habib Bourguiba, Sfax, Tunisia.
  • Tekin M; Oregon Hearing Research Center, Department of Otolaryngology/Head and Neck Surgery, Oregon Health and Science University, Portland, OR, USA.
  • Shi XR; Department of Otolaryngology (D-48), University of Miami Miller School of Medicine, 1666 NW 12th Avenue, Miami, FL, 33136, USA.
  • Kato Y; Dr. John T. Macdonald Foundation Department of Human Genetics, and John P. Hussman Institute for Human Genomics, University of Miami, Miami, FL, 33136, USA.
  • Masmoudi S; Oregon Hearing Research Center, Department of Otolaryngology/Head and Neck Surgery, Oregon Health and Science University, Portland, OR, USA.
  • Lu Z; Faculty of Pharmacy, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University, Kanazawa, Ishikawa, 920-1192, Japan.
  • Hmani M; Laboratoire Procédés de Criblage Moléculaire et Cellulaire, Centre de Biotechnologie de Sfax, Université de Sfax, Route sidimansour Km 6, BP '1177', 3018, Sfax, Tunisia. saber.masmoudi@cbs.rnrt.tn.
  • Liu X; Department of Biology, University of Miami, Miami, FL, 33146, USA.
Hum Genet ; 135(5): 513-524, 2016 May.
Article em En | MEDLINE | ID: mdl-27023905
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cóclea / Consanguinidade / Proteínas de Transporte de Cátions Orgânicos / Endotélio / Genes Recessivos / Perda Auditiva / Mutação Tipo de estudo: Etiology_studies / Risk_factors_studies Limite: Animals / Female / Humans / Male Idioma: En Revista: Hum Genet Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Tunísia
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cóclea / Consanguinidade / Proteínas de Transporte de Cátions Orgânicos / Endotélio / Genes Recessivos / Perda Auditiva / Mutação Tipo de estudo: Etiology_studies / Risk_factors_studies Limite: Animals / Female / Humans / Male Idioma: En Revista: Hum Genet Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Tunísia