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Journal Abstract Search

127 related items for PubMed ID: 30125608

  • 1. Increased transactivation and impaired repression of β-catenin-mediated transcription associated with a novel SOX3 missense mutation in an X-linked hypopituitarism pedigree with modest growth failure.
    Yu T, Chang G, Cheng Q, Yao R, Li J, Xu Y, Li G, Ding Y, Qing Y, Li N, Shen Y, Wang X, Wang J.
    Mol Cell Endocrinol; 2018 Dec 15; 478():133-140. PubMed ID: 30125608
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  • 2. Increased transactivation associated with SOX3 polyalanine tract deletion in a patient with hypopituitarism.
    Alatzoglou KS, Kelberman D, Cowell CT, Palmer R, Arnhold IJ, Melo ME, Schnabel D, Grueters A, Dattani MT.
    J Clin Endocrinol Metab; 2011 Apr 15; 96(4):E685-90. PubMed ID: 21289259
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  • 3. Polyalanine expansion mutations in the X-linked hypopituitarism gene SOX3 result in aggresome formation and impaired transactivation.
    Wong J, Farlie P, Holbert S, Lockhart P, Thomas PQ.
    Front Biosci; 2007 Jan 01; 12():2085-95. PubMed ID: 17127446
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  • 6. Marked phenotypic variable expression among brothers with duplication of Xq27.1 involving the SOX3 gene.
    Rosolowsky ET, Stein R, Marks SD, Leonard N.
    J Pediatr Endocrinol Metab; 2020 Mar 26; 33(3):443-447. PubMed ID: 26352083
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  • 7. Congenital hypopituitarism in two brothers with a duplication of the 'acrogigantism gene' GPR101: clinical findings and review of the literature.
    Elizabeth MSM, Verkerk AJMH, Hokken-Koelega ACS, Verlouw JAM, Argente J, Pfaeffle R, Neggers SJCMM, Visser JA, de Graaff LCG.
    Pituitary; 2021 Apr 26; 24(2):229-241. PubMed ID: 33184694
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  • 8. A novel mutation in SOX3 polyalanine tract: a case of Kabuki syndrome with combined pituitary hormone deficiency harboring double mutations in MLL2 and SOX3.
    Takagi M, Ishii T, Torii C, Kosaki K, Hasegawa T.
    Pituitary; 2014 Dec 26; 17(6):569-74. PubMed ID: 24346842
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  • 9. Evidence for increased SOX3 dosage as a risk factor for X-linked hypopituitarism and neural tube defects.
    Bauters M, Frints SG, Van Esch H, Spruijt L, Baldewijns MM, de Die-Smulders CE, Fryns JP, Marynen P, Froyen G.
    Am J Med Genet A; 2014 Aug 26; 164A(8):1947-52. PubMed ID: 24737742
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  • 15. SOX3 deletion in mouse and human is associated with persistence of the craniopharyngeal canal.
    Alatzoglou KS, Azriyanti A, Rogers N, Ryan F, Curry N, Noakes C, Bignell P, Hall GW, Littooij AS, Saunders D, Thomas P, Stewart H, Dattani MT.
    J Clin Endocrinol Metab; 2014 Dec 26; 99(12):E2702-8. PubMed ID: 25140394
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  • 17. Array comparative genomic hybridisation analysis of boys with X-linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3.
    Solomon NM, Ross SA, Forrest SM, Thomas PQ, Morgan T, Belsky JL, Hol FA, Karnes PS, Hopwood NJ, Myers SE, Tan AS, Warne GL.
    J Med Genet; 2007 Apr 26; 44(4):e75. PubMed ID: 17400794
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  • 18. Mechanistic insight into the pathology of polyalanine expansion disorders revealed by a mouse model for X linked hypopituitarism.
    Hughes J, Piltz S, Rogers N, McAninch D, Rowley L, Thomas P.
    PLoS Genet; 2013 Apr 26; 9(3):e1003290. PubMed ID: 23505376
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  • 19. Hypopituitarism in Sox3 null mutants correlates with altered NG2-glia in the median eminence and is influenced by aspirin and gut microbiota.
    Galichet C, Rizzoti K, Lovell-Badge R.
    PLoS Genet; 2024 Sep 26; 20(9):e1011395. PubMed ID: 39325695
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  • 20. Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency.
    Laumonnier F, Ronce N, Hamel BC, Thomas P, Lespinasse J, Raynaud M, Paringaux C, Van Bokhoven H, Kalscheuer V, Fryns JP, Chelly J, Moraine C, Briault S.
    Am J Hum Genet; 2002 Dec 26; 71(6):1450-5. PubMed ID: 12428212
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