A locus on mouse chromosome 2 is involved in susceptibility to congenital hypothyroidism and contains an essential gene expressed in thyroid. (Articolo in rivista)

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  • A locus on mouse chromosome 2 is involved in susceptibility to congenital hypothyroidism and contains an essential gene expressed in thyroid. (Articolo in rivista) (literal)
Anno
  • 2010-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1210/en.2009-1240 (literal)
Alternative label
  • Amendola E, Sanges R, Galvan A, Dathan N, Manenti G, Ferrandino G, Alvino FM, Di Palma T, Scarfò M, Zannini M, Dragani TA, De Felice M, Di Lauro R. (2010)
    A locus on mouse chromosome 2 is involved in susceptibility to congenital hypothyroidism and contains an essential gene expressed in thyroid.
    in Endocrinology (Philadelphia)
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Amendola E, Sanges R, Galvan A, Dathan N, Manenti G, Ferrandino G, Alvino FM, Di Palma T, Scarfò M, Zannini M, Dragani TA, De Felice M, Di Lauro R. (literal)
Pagina inizio
  • 1948 (literal)
Pagina fine
  • 1958 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 15 (literal)
Rivista
Note
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • Biogem (E.A., R.S., F.G., F.M.A., M.S., M.D.F., R.D.L.), 83031 Ariano Irpino (AV), Italy; Dipartimento di Oncologia sperimentale e Medicina Molecolare, Fondazione IRCSS, Istituto Nazionale Tumori (A.G., G.M., T.D.), 20133 Milan, Italy; Institute of Genetic Research \"Gaetano Salvatore\" (IRGS) (G.F.), Biogem s.c.a.r.l., 83031 Ariano Irpino, Italy Istituto di Biostrutture e Bioimmagini (N.D.), Istituto di Endocrinologia ed Oncologia Sperimentale (T.D.P., M.Z.), Consiglio Nazionale delle Ricerche, 80131 Naples, Italy; Dipartimento di Biologia e Patologia Cellulare e Molecolare (M.D.F., R.D.L.), Universita` Federico II , 80131 Naples, Italy; and Stazione Zoologica Anton Dohrn (R.D.L., E.A.), 80121 Naples, Italy (literal)
Titolo
  • A locus on mouse chromosome 2 is involved in susceptibility to congenital hypothyroidism and contains an essential gene expressed in thyroid. (literal)
Abstract
  • We report here the mapping of a chromosomal region responsible for strain-specific development of congenital hypothyroidism in mice heterozygous for null mutations in genes encoding Nkx2-1/Titf1 and Pax8. The two strains showing a differential predisposition to congenital hypothyroidism contain several single-nucleotide polymorphisms in this locus, one of which leads to a nonsynonymous amino acid change in a highly conserved region of Dnajc17, a member of the type III heat-shock protein-40 (Hsp40) family. We demonstrate that Dnajc17 is highly expressed in the thyroid bud and had an essential function in development, suggesting an important role of this protein in organogenesis and/or function of the thyroid gland. (literal)
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