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RSRC1 mutation affects intellect and behaviour through aberrant splicing and transcription, downregulating IGFBP3.
Perez, Yonatan; Menascu, Shay; Cohen, Idan; Kadir, Rotem; Basha, Omer; Shorer, Zamir; Romi, Hila; Meiri, Gal; Rabinski, Tatiana; Ofir, Rivka; Yeger-Lotem, Esti; Birk, Ohad S.
Afiliación
  • Perez Y; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva 84105, Israel.
  • Menascu S; Multiple Sclerosis Center, Sheba Medical Center, Tel Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Cohen I; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva 84105, Israel.
  • Kadir R; Department of Developmental and Regenerative Biology, Black Family Stem Cell Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
  • Basha O; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva 84105, Israel.
  • Shorer Z; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva 84105, Israel.
  • Romi H; Department of Clinical Biochemistry and Pharmacology, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva 84105, Israel.
  • Meiri G; Pediatric Neurology unit, Division of Pediatrics, Soroka University Medical Center, Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva 84101, Israel.
  • Rabinski T; The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva 84105, Israel.
  • Ofir R; Genetics Institute, Soroka University Medical Center, Ben Gurion University of the Negev, Beer Sheva 84101, Israel.
  • Yeger-Lotem E; Pre-School Psychiatry Unit, Soroka University Medical Center, Beer Sheva 84101, Israel.
  • Birk OS; Regenerative Medicine and Stem Cell Research Center, Ben-Gurion University of the Negev, Beer Sheva 84105, Israel.
Brain ; 141(4): 961-970, 2018 04 01.
Article en En | MEDLINE | ID: mdl-29522154

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas Nucleares / Regulación hacia Abajo / Discapacidades del Desarrollo / Empalme Alternativo / Proteína 3 de Unión a Factor de Crecimiento Similar a la Insulina / Discapacidad Intelectual Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Animals / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Brain Año: 2018 Tipo del documento: Article País de afiliación: Israel

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas Nucleares / Regulación hacia Abajo / Discapacidades del Desarrollo / Empalme Alternativo / Proteína 3 de Unión a Factor de Crecimiento Similar a la Insulina / Discapacidad Intelectual Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Animals / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Brain Año: 2018 Tipo del documento: Article País de afiliación: Israel