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Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility.
Lin, Zhimiao; Li, Shuo; Feng, Cheng; Yang, Shang; Wang, Huijun; Ma, Danhui; Zhang, Jing; Gou, Mengting; Bu, Dingfang; Zhang, Tengjiang; Kong, Xiaohui; Wang, Xintong; Sarig, Ofer; Ren, Yali; Dai, Lanlan; Liu, Hankui; Zhang, Jianguo; Li, Fei; Hu, Yongyan; Padalon-Brauch, Gilly; Vodo, Dan; Zhou, Feng; Chen, Ting; Deng, Haiteng; Sprecher, Eli; Yang, Yong; Tan, Xu.
Afiliación
  • Lin Z; Department of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China.
  • Li S; School of Pharmaceutical Sciences, Center for Infectious Disease Research, School of Medicine, Tsinghua University, Tsinghua-Peking Center for Life Sciences, Beijing, China.
  • Feng C; Department of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China.
  • Yang S; School of Pharmaceutical Sciences, Center for Infectious Disease Research, School of Medicine, Tsinghua University, Tsinghua-Peking Center for Life Sciences, Beijing, China.
  • Wang H; Department of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China.
  • Ma D; Peking-Tsinghua Center for Life Sciences, Beijing, China.
  • Zhang J; School of Pharmaceutical Sciences, Center for Infectious Disease Research, School of Medicine, Tsinghua University, Tsinghua-Peking Center for Life Sciences, Beijing, China.
  • Gou M; Department of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China.
  • Bu D; Peking-Tsinghua Center for Life Sciences, Beijing, China.
  • Zhang T; School of Pharmaceutical Sciences, Center for Infectious Disease Research, School of Medicine, Tsinghua University, Tsinghua-Peking Center for Life Sciences, Beijing, China.
  • Kong X; Department of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China.
  • Wang X; School of Pharmaceutical Sciences, Center for Infectious Disease Research, School of Medicine, Tsinghua University, Tsinghua-Peking Center for Life Sciences, Beijing, China.
  • Sarig O; School of Pharmaceutical Sciences, Center for Infectious Disease Research, School of Medicine, Tsinghua University, Tsinghua-Peking Center for Life Sciences, Beijing, China.
  • Ren Y; Department of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China.
  • Dai L; Department of Dermatology, Tel Aviv Sourasky Medical Centre, Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Liu H; Laboratory of Electron Microscopy, Peking University First Hospital, Beijing, China.
  • Zhang J; BGI-Shenzhen, Shenzhen, China.
  • Li F; BGI-Shenzhen, Shenzhen, China.
  • Hu Y; BGI-Shenzhen, Shenzhen, China.
  • Padalon-Brauch G; National Institute of Biological Sciences, Beijing, China.
  • Vodo D; Laboratory Animal Facility, Peking University First Hospital, Beijing, China.
  • Zhou F; Department of Dermatology, Tel Aviv Sourasky Medical Centre, Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Chen T; Department of Dermatology, Tel Aviv Sourasky Medical Centre, Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Deng H; Institutes of Biomedical Sciences, Shanghai Medical College of Fudan University, Shanghai, China.
  • Sprecher E; National Institute of Biological Sciences, Beijing, China.
  • Yang Y; MOE Key Laboratory of Bioinformatics, School of Life Sciences and Centre of Biomedical Analysis, Tsinghua University, Beijing, China.
  • Tan X; Department of Dermatology, Tel Aviv Sourasky Medical Centre, Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Nat Genet ; 48(12): 1508-1516, 2016 12.
Article en En | MEDLINE | ID: mdl-27798626
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteínas Represoras / Epidermólisis Ampollosa / Queratina-14 / Mutación Tipo de estudio: Observational_studies / Prognostic_studies Límite: Adult / Animals / Child, preschool / Female / Humans / Male / Newborn Idioma: En Revista: Nat Genet Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article País de afiliación: China
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteínas Represoras / Epidermólisis Ampollosa / Queratina-14 / Mutación Tipo de estudio: Observational_studies / Prognostic_studies Límite: Adult / Animals / Child, preschool / Female / Humans / Male / Newborn Idioma: En Revista: Nat Genet Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article País de afiliación: China