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Haploinsufficiency in the ANKS1B gene encoding AIDA-1 leads to a neurodevelopmental syndrome.
Carbonell, Abigail U; Cho, Chang Hoon; Tindi, Jaafar O; Counts, Pamela A; Bates, Juliana C; Erdjument-Bromage, Hediye; Cvejic, Svetlana; Iaboni, Alana; Kvint, Ifat; Rosensaft, Jenny; Banne, Ehud; Anagnostou, Evdokia; Neubert, Thomas A; Scherer, Stephen W; Molholm, Sophie; Jordan, Bryen A.
Afiliação
  • Carbonell AU; Dominick P. Purpura Department of Neuroscience, Albert Einstein College of Medicine, Bronx, 10461, NY, USA.
  • Cho CH; Dominick P. Purpura Department of Neuroscience, Albert Einstein College of Medicine, Bronx, 10461, NY, USA.
  • Tindi JO; Dominick P. Purpura Department of Neuroscience, Albert Einstein College of Medicine, Bronx, 10461, NY, USA.
  • Counts PA; Department of Pediatrics, Albert Einstein College of Medicine, Bronx, 10461, NY, USA.
  • Bates JC; Department of Pediatrics, Albert Einstein College of Medicine, Bronx, 10461, NY, USA.
  • Erdjument-Bromage H; Department of Cell Biology and Kimmel Center for Biology and Medicine of the Skirball Institute, New York University School of Medicine, New York, 10016, NY, USA.
  • Cvejic S; Dominick P. Purpura Department of Neuroscience, Albert Einstein College of Medicine, Bronx, 10461, NY, USA.
  • Iaboni A; Autism Research Centre, Bloorview Research Institute, Holland Bloorview Kids Rehabilitation Hospital, Toronto, M46 1R8, ON, Canada.
  • Kvint I; Pediatric Neurology Clinic, Kaplan Medical Center, Hebrew University Hadassah Medical School, Rehovot, 76100, Israel.
  • Rosensaft J; Genetics Institute, Kaplan Medical Center, Hebrew University Hadassah Medical School, Rehovot, 76100, Israel.
  • Banne E; Genetics Institute, Kaplan Medical Center, Hebrew University Hadassah Medical School, Rehovot, 76100, Israel.
  • Anagnostou E; Autism Research Centre, Bloorview Research Institute, Holland Bloorview Kids Rehabilitation Hospital, Toronto, M46 1R8, ON, Canada.
  • Neubert TA; Department of Cell Biology and Kimmel Center for Biology and Medicine of the Skirball Institute, New York University School of Medicine, New York, 10016, NY, USA.
  • Scherer SW; Department of Pharmacology, New York University School of Medicine, New York, 10016, NY, USA.
  • Molholm S; Centre for Applied Genomics and McLaughlin Centre, Hospital for Sick Children and University of Toronto, Toronto, M56 0A4, ON, Canada.
  • Jordan BA; Dominick P. Purpura Department of Neuroscience, Albert Einstein College of Medicine, Bronx, 10461, NY, USA.
Nat Commun ; 10(1): 3529, 2019 08 06.
Article em En | MEDLINE | ID: mdl-31388001

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Peptídeos e Proteínas de Sinalização Intracelular / Haploinsuficiência / Transtornos do Neurodesenvolvimento Tipo de estudo: Prognostic_studies Limite: Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Peptídeos e Proteínas de Sinalização Intracelular / Haploinsuficiência / Transtornos do Neurodesenvolvimento Tipo de estudo: Prognostic_studies Limite: Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article