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ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition.
Alkanderi, Sumaya; Molinari, Elisa; Shaheen, Ranad; Elmaghloob, Yasmin; Stephen, Louise A; Sammut, Veronica; Ramsbottom, Simon A; Srivastava, Shalabh; Cairns, George; Edwards, Noel; Rice, Sarah J; Ewida, Nour; Alhashem, Amal; White, Kathryn; Miles, Colin G; Steel, David H; Alkuraya, Fowzan S; Ismail, Shehab; Sayer, John A.
Afiliação
  • Alkanderi S; Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
  • Molinari E; Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
  • Shaheen R; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
  • Elmaghloob Y; Structural Biology of the Cilia Lab, Beatson Institute for Cancer Research, Switchback Road, Bearsden, Glasgow G61 1BD, UK.
  • Stephen LA; Structural Biology of the Cilia Lab, Beatson Institute for Cancer Research, Switchback Road, Bearsden, Glasgow G61 1BD, UK.
  • Sammut V; Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
  • Ramsbottom SA; Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
  • Srivastava S; Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK; Renal Services, Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne NE7 7DN, UK.
  • Cairns G; Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
  • Edwards N; Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
  • Rice SJ; Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
  • Ewida N; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
  • Alhashem A; Department of Pediatrics, Prince Sultan Medical Military City, Riyadh 12233, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia.
  • White K; Electron Microscopy Research Services, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
  • Miles CG; Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
  • Steel DH; Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK; Sunderland Eye Infirmary, Queen Alexandra Road, Sunderland SR2 9HP, UK.
  • Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia.
  • Ismail S; Structural Biology of the Cilia Lab, Beatson Institute for Cancer Research, Switchback Road, Bearsden, Glasgow G61 1BD, UK; Institute of Cancer Sciences, University of Glasgow, Glasgow G61 1QH, UK. Electronic address: s.ismail@beatson.gla.ac.uk.
  • Sayer JA; Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK; Renal Services, Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne NE7 7DN, UK. Electronic address: john.sayer@ncl.ac.uk.
Am J Hum Genet ; 103(4): 612-620, 2018 10 04.
Article em En | MEDLINE | ID: mdl-30269812
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Retina / Anormalidades Múltiplas / Cerebelo / Anormalidades do Olho / Cílios / Mutação de Sentido Incorreto / Fatores de Ribosilação do ADP / Doenças Renais Císticas Limite: Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Reino Unido País de publicação: Estados Unidos
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Retina / Anormalidades Múltiplas / Cerebelo / Anormalidades do Olho / Cílios / Mutação de Sentido Incorreto / Fatores de Ribosilação do ADP / Doenças Renais Císticas Limite: Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Reino Unido País de publicação: Estados Unidos