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Mutant NR5A1/SF-1 in patients with disorders of sex development shows defective activation of the SOX9 TESCO enhancer.
Sreenivasan, Rajini; Ludbrook, Louisa; Fisher, Brett; Declosmenil, Faustine; Knower, Kevin C; Croft, Brittany; Bird, Anthony D; Ryan, Janelle; Bashamboo, Anu; Sinclair, Andrew H; Koopman, Peter; McElreavey, Ken; Poulat, Francis; Harley, Vincent R.
Affiliation
  • Sreenivasan R; Hudson Institute of Medical Research, Victoria, Australia.
  • Ludbrook L; Department of Anatomy and Neuroscience, University of Melbourne, Victoria, Australia.
  • Fisher B; Hudson Institute of Medical Research, Victoria, Australia.
  • Declosmenil F; Department of Biochemistry and Molecular Biology, Monash University, Victoria, Australia.
  • Knower KC; Hudson Institute of Medical Research, Victoria, Australia.
  • Croft B; Department of Biochemistry and Molecular Biology, Monash University, Victoria, Australia.
  • Bird AD; Institut de Génétique Humaine, Montpellier, France.
  • Ryan J; Hudson Institute of Medical Research, Victoria, Australia.
  • Bashamboo A; Hudson Institute of Medical Research, Victoria, Australia.
  • Sinclair AH; Department of Molecular Translational Science, Monash University, Victoria, Australia.
  • Koopman P; Hudson Institute of Medical Research, Victoria, Australia.
  • McElreavey K; Hudson Institute of Medical Research, Victoria, Australia.
  • Poulat F; Institut Pasteur, Paris, France.
  • Harley VR; Murdoch Children's Research Institute, Royal Children's Hospital and Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia.
Hum Mutat ; 39(12): 1861-1874, 2018 12.
Article in En | MEDLINE | ID: mdl-30067310
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Enhancer Elements, Genetic / Steroidogenic Factor 1 / SOX9 Transcription Factor / Disorder of Sex Development, 46,XY / Mutation Type of study: Prognostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Humans / Infant / Male / Newborn Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2018 Type: Article Affiliation country: Australia
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Enhancer Elements, Genetic / Steroidogenic Factor 1 / SOX9 Transcription Factor / Disorder of Sex Development, 46,XY / Mutation Type of study: Prognostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Humans / Infant / Male / Newborn Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2018 Type: Article Affiliation country: Australia