Art

J-GLOBAL ID：201302231058798459   Reference number：12A1792303

Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement

中枢性甲状腺機能低下症:IGSF1の機能喪失変異はX染色体連鎖の中枢性甲状腺機能低下と精巣腫大症候群を起こす

Author (40)： SUN Yu (Leiden Univ. Medical Center, Leiden, NLD) ,  RUIVENKAMP Claudia A L (Leiden Univ. Medical Center, Leiden, NLD) ,  LAROS Jeroen F J (Leiden Univ. Medical Center, Leiden, NLD) ,  KRIEK Marjolein (Leiden Univ. Medical Center, Leiden, NLD) ,  KANT Sarina G (Leiden Univ. Medical Center, Leiden, NLD) ,  BOSCH Cathy A J (Leiden Univ. Medical Center, Leiden, NLD) ,  DEN DUNNEN Johan T (Leiden Univ. Medical Center, Leiden, NLD) ,  BREUNING Martijn H (Leiden Univ. Medical Center, Leiden, NLD) ,  BAK Beata (McGill Univ., Quebec, CAN) ,  BERNARD Daniel J (McGill Univ., Quebec, CAN) ,  SCHOENMAKERS Nadia (Univ. Cambridge, Cambridge, GBR) ,  VOSHOL Peter (Univ. Cambridge, Cambridge, GBR) ,  CHATTERJEE Krishna (Univ. Cambridge, Cambridge, GBR) ,  VAN TROTSENBURG A S Paul (Univ. Amsterdam, Amsterdam, NLD) ,  VULSMA Thomas (Univ. Amsterdam, Amsterdam, NLD) ,  KEMPERS Marlies J (Univ. Amsterdam, Amsterdam, NLD) ,  HENNEKAM Raoul C (Univ. Amsterdam, Amsterdam, NLD) ,  OOSTDIJK Wilma (Leiden Univ. Medical Center, Leiden, NLD) ,  STOKVIS-BRANTSMA Wilhelmina H (Leiden Univ. Medical Center, Leiden, NLD) ,  WIT Jan M (Leiden Univ. Medical Center, Leiden, NLD) ,  CAMBRIDGE Emma (Wellcome Trust Genome Campus, Cambridge, GBR) ,  WHITE Jacqueline K (Wellcome Trust Genome Campus, Cambridge, GBR) ,  TISSIER Paul le (Univ. Coll. London (UCL) Inst. of Child Health, London, GBR) ,  GHARAVY S Neda Mousavy (Univ. Coll. London (UCL) Inst. of Child Health, London, GBR) ,  MARTINEZ-BARBERA Juan P (Univ. Coll. London (UCL) Inst. of Child Health, London, GBR) ,  TISSIER Paul le (National Inst. for Medical Res., London, GBR) ,  KEMPERS Marlies J (Radboud Univ. Nijmegen Medical Center, Nijmegen, NLD) ,  PERSANI Luca (Universita degli Studi di Milano, Milan, ITA) ,  CAMPI Irene (Universita degli Studi di Milano, Milan, ITA) ,  BECK-PECCOZ Paolo (Universita degli Studi di Milano, Milan, ITA) ,  PERSANI Luca (Istituto Auxologico Italiano, Milan, ITA) ,  BONOMI Marco (Istituto Auxologico Italiano, Milan, ITA) ,  CAMPI Irene (Fondazione IRCCS Ca’Granda, Milan, ITA) ,  BECK-PECCOZ Paolo (Fondazione IRCCS Ca’Granda, Milan, ITA) ,  ZHU Hongdong (Univ. Western Australia, Western Australia, AUS) ,  DAVIS Timothy M E (Univ. Western Australia, Western Australia, AUS) ,  HOKKEN-KOELEGA Anita C S (Erasmus Medical Center-Sophia Children’s Hospital, Rotterdam, NLD) ,  DEL BLANCO Daria Gorbenko (Erasmus Medical Center-Sophia Children’s Hospital, Rotterdam, NLD) ,  RANGASAMI Jayanti J (West Middlesex Univ. Hospital, Isleworth, GBR) ,  BIERMASZ Nienke R (Leiden Univ. Medical Center, Leiden, NLD)
Material： Nature Genetics  (Nat Genet)
Volume： 44  Issue： 12  Page： 1375-1381  Publication year： Dec. 2012 
JST Material Number： W0430A  ISSN： 1061-4036  Document type： Article
Article type： 原著論文  Country of issue： United States (USA)  Language： ENGLISH (EN)

Thesaurus term： *hypothyroidism ,  human(primates) ,  pedigree ,  TRH ,  mutation ,  nucleotide sequence ,  *gene ,  membrane glycoprotein ,  pituitary gland ,  hormone receptor ,  knockout mouse ,  X chromosome
Semi thesaurus term： *IGSF1遺伝子 ,  Receptors, Thyrotropin-Releasing Hormone ,  *central hypothyroidism

JST classification (1)： Genetic variation  (EC01030Y)

Terms in the title (8)： 中枢性甲状腺機能低下症 ,  機能喪失変異 ,  X染色体 ,  連鎖 ,  甲状腺機能低下 ,  精巣 ,  腫大 ,  症候群