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Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects.
Simon, Amos J; Lev, Atar; Zhang, Yong; Weiss, Batia; Rylova, Anna; Eyal, Eran; Kol, Nitzan; Barel, Ortal; Cesarkas, Keren; Soudack, Michalle; Greenberg-Kushnir, Noa; Rhodes, Michele; Wiest, David L; Schiby, Ginette; Barshack, Iris; Katz, Shulamit; Pras, Elon; Poran, Hana; Reznik-Wolf, Haike; Ribakovsky, Elena; Simon, Carlos; Hazou, Wadi; Sidi, Yechezkel; Lahad, Avishay; Katzir, Hagar; Sagie, Shira; Aqeilan, Haifa A; Glousker, Galina; Amariglio, Ninette; Tzfati, Yehuda; Selig, Sara; Rechavi, Gideon; Somech, Raz.
Afiliação
  • Simon AJ; Pediatric Department A and Immunology Service, Jeffrey Modell Foundation Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel Division of Haematology and Bone Marrow Transplantation, Sheba Me
  • Lev A; Pediatric Department A and Immunology Service, Jeffrey Modell Foundation Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel The Wohl Institute for Translational Medicine, Sheba Medical Cent
  • Zhang Y; Blood Cell Development and Function Program, Fox Chase Cancer Center, Philadelphia, PA 19111.
  • Weiss B; The Wohl Institute for Translational Medicine, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel Pediatric Gastroenterology and Nutrition Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Sackler Faculty
  • Rylova A; Pediatric Department A and Immunology Service, Jeffrey Modell Foundation Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel.
  • Eyal E; The Wohl Institute for Translational Medicine, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel Sheba Cancer Research Center, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel.
  • Kol N; The Wohl Institute for Translational Medicine, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel Sheba Cancer Research Center, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel.
  • Barel O; The Wohl Institute for Translational Medicine, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel Sheba Cancer Research Center, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel.
  • Cesarkas K; The Wohl Institute for Translational Medicine, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel Sheba Cancer Research Center, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel.
  • Soudack M; Imaging Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel.
  • Greenberg-Kushnir N; Blood Cell Development and Function Program, Fox Chase Cancer Center, Philadelphia, PA 19111.
  • Rhodes M; Blood Cell Development and Function Program, Fox Chase Cancer Center, Philadelphia, PA 19111.
  • Wiest DL; Blood Cell Development and Function Program, Fox Chase Cancer Center, Philadelphia, PA 19111.
  • Schiby G; The Wohl Institute for Translational Medicine, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel Department of Pathology, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel.
  • Barshack I; Department of Pathology, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel.
  • Katz S; Pediatric Department A and Immunology Service, Jeffrey Modell Foundation Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel.
  • Pras E; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel.
  • Poran H; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel.
  • Reznik-Wolf H; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel.
  • Ribakovsky E; Division of Haematology and Bone Marrow Transplantation, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel.
  • Simon C; Division of Gastroenterology, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel.
  • Hazou W; Department of Internal Medicine C, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel.
  • Sidi Y; Department of Internal Medicine C, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel.
  • Lahad A; Pediatric Gastroenterology and Nutrition Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel.
  • Katzir H; Laboratory of Molecular Medicine, Rambam Health Care Campus and Rappaport Faculty of Medicine and Research Institute, Technion, Haifa 8875361, Israel.
  • Sagie S; Laboratory of Molecular Medicine, Rambam Health Care Campus and Rappaport Faculty of Medicine and Research Institute, Technion, Haifa 8875361, Israel.
  • Aqeilan HA; Department of Genetics, The Silberman Institute of Life Sciences, Hebrew University of Jerusalem, Edmond Safra Campus, Givat Ram, Jerusalem 9190401, Israel.
  • Glousker G; Department of Genetics, The Silberman Institute of Life Sciences, Hebrew University of Jerusalem, Edmond Safra Campus, Givat Ram, Jerusalem 9190401, Israel.
  • Amariglio N; Division of Haematology and Bone Marrow Transplantation, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel The Wohl Institute for Translational Medicine, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University,
  • Tzfati Y; Department of Genetics, The Silberman Institute of Life Sciences, Hebrew University of Jerusalem, Edmond Safra Campus, Givat Ram, Jerusalem 9190401, Israel.
  • Selig S; Laboratory of Molecular Medicine, Rambam Health Care Campus and Rappaport Faculty of Medicine and Research Institute, Technion, Haifa 8875361, Israel seligs@tx.technion.ac.il raz.somech@sheba.health.gov.il.
  • Rechavi G; The Wohl Institute for Translational Medicine, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel Sheba Cancer Research Center, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel.
  • Somech R; Pediatric Department A and Immunology Service, Jeffrey Modell Foundation Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel The Wohl Institute for Translational Medicine, Sheba Medical Cent
J Exp Med ; 213(8): 1429-40, 2016 07 25.
Article em En | MEDLINE | ID: mdl-27432940
Assuntos
Ataxia; Neoplasias Encefálicas; Calcinose; Cistos do Sistema Nervoso Central; Regulação da Expressão Gênica/efeitos dos fármacos; Leucoencefalopatias; Espasticidade Muscular; Mutação; Doenças Retinianas; Convulsões; Proteínas de Ligação a Telômeros; Telômero; Talidomida/administração & dosagem; Animais; Ataxia/tratamento farmacológico; Ataxia/genética; Ataxia/metabolismo; Ataxia/patologia; Neoplasias Encefálicas/tratamento farmacológico; Neoplasias Encefálicas/genética; Neoplasias Encefálicas/metabolismo; Neoplasias Encefálicas/patologia; Calcinose/tratamento farmacológico; Calcinose/genética; Calcinose/metabolismo; Calcinose/patologia; Cistos do Sistema Nervoso Central/tratamento farmacológico; Cistos do Sistema Nervoso Central/genética; Cistos do Sistema Nervoso Central/metabolismo; Cistos do Sistema Nervoso Central/patologia; Modelos Animais de Doenças; Feminino; Humanos; Leucoencefalopatias/tratamento farmacológico; Leucoencefalopatias/genética; Leucoencefalopatias/metabolismo; Leucoencefalopatias/patologia; Masculino; Espasticidade Muscular/tratamento farmacológico; Espasticidade Muscular/genética; Espasticidade Muscular/metabolismo; Espasticidade Muscular/patologia; Doenças Retinianas/tratamento farmacológico; Doenças Retinianas/genética; Doenças Retinianas/metabolismo; Doenças Retinianas/patologia; Convulsões/tratamento farmacológico; Convulsões/genética; Convulsões/metabolismo; Convulsões/patologia; Telômero/genética; Telômero/metabolismo; Telômero/patologia; Proteínas de Ligação a Telômeros/biossíntese; Proteínas de Ligação a Telômeros/genética; Talidomida/efeitos adversos; Peixe-Zebra
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças Retinianas / Ataxia / Convulsões / Talidomida / Neoplasias Encefálicas / Calcinose / Regulação da Expressão Gênica / Telômero / Cistos do Sistema Nervoso Central / Proteínas de Ligação a Telômeros Tipo de estudo: Prognostic_studies / Risk_factors_studies Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças Retinianas / Ataxia / Convulsões / Talidomida / Neoplasias Encefálicas / Calcinose / Regulação da Expressão Gênica / Telômero / Cistos do Sistema Nervoso Central / Proteínas de Ligação a Telômeros Tipo de estudo: Prognostic_studies / Risk_factors_studies Idioma: En Ano de publicação: 2016 Tipo de documento: Article