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Cutaneous manifestations in Costello syndrome: HRAS p.Gly12Ser affects RIN1-mediated integrin trafficking in immortalized epidermal keratinocytes.
Nauth, Theresa; Bazgir, Farhad; Voß, Hannah; Brandenstein, Laura I; Mosaddeghzadeh, Niloufar; Rickassel, Verena; Deden, Sophia; Gorzelanny, Christian; Schlüter, Hartmut; Ahmadian, Mohammad R; Rosenberger, Georg.
Afiliação
  • Nauth T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Bazgir F; Institute of Biochemistry and Molecular Biology II, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine University, 40225 Düsseldorf, Germany.
  • Voß H; Institute of Clinical Chemistry and Laboratory Medicine, Section Mass Spectrometry and Proteomics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Brandenstein LI; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Mosaddeghzadeh N; Institute of Biochemistry and Molecular Biology II, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine University, 40225 Düsseldorf, Germany.
  • Rickassel V; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Deden S; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Gorzelanny C; Department of Dermatology and Venereology, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Schlüter H; Institute of Clinical Chemistry and Laboratory Medicine, Section Mass Spectrometry and Proteomics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Ahmadian MR; Institute of Biochemistry and Molecular Biology II, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine University, 40225 Düsseldorf, Germany.
  • Rosenberger G; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
Hum Mol Genet ; 32(2): 304-318, 2023 01 06.
Article em En | MEDLINE | ID: mdl-35981076
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Dermatopatias / Síndrome de Costello Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Dermatopatias / Síndrome de Costello Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article