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Journal Abstract Search

137 related items for PubMed ID: 23505376

  • 1. 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; 9(3):e1003290. PubMed ID: 23505376
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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 01; 96(4):E685-90. PubMed ID: 21289259
    [Abstract] [Full Text] [Related]

  • 4. Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism.
    Woods KS, Cundall M, Turton J, Rizotti K, Mehta A, Palmer R, Wong J, Chong WK, Al-Zyoud M, El-Ali M, Otonkoski T, Martinez-Barbera JP, Thomas PQ, Robinson IC, Lovell-Badge R, Woodward KJ, Dattani MT.
    Am J Hum Genet; 2005 May 01; 76(5):833-49. PubMed ID: 15800844
    [Abstract] [Full Text] [Related]

  • 5. 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, Morgan T, Belsky JL, Hol FA, Karnes PS, Hopwood NJ, Myers SE, Tan AS, Warne GL, Forrest SM, Thomas PQ.
    J Med Genet; 2004 Sep 01; 41(9):669-78. PubMed ID: 15342697
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 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 15; 24(2):229-241. PubMed ID: 33184694
    [Abstract] [Full Text] [Related]

  • 8. Molecular pathology of polyalanine expansion disorders: new perspectives from mouse models.
    Hughes JN, Thomas PQ.
    Methods Mol Biol; 2013 Apr 15; 1017():135-51. PubMed ID: 23719913
    [Abstract] [Full Text] [Related]

  • 9. 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 15; 99(12):E2702-8. PubMed ID: 25140394
    [Abstract] [Full Text] [Related]

  • 10. 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 15; 20(9):e1011395. PubMed ID: 39325695
    [Abstract] [Full Text] [Related]

  • 11. Xq27.1 Duplication Encompassing SOX3: Variable Phenotype and Smallest Duplication Associated with Hypopituitarism to Date - A Large Case Series of Unrelated Patients and a Literature Review.
    Arya VB, Chawla G, Nambisan AKR, Muhi-Iddin N, Vamvakiti E, Ajzensztejn M, Hulse T, Ferreira Pinto C, Lahiri N, Bint S, Buchanan CR, Kapoor RR.
    Horm Res Paediatr; 2019 Sep 15; 92(6):382-389. PubMed ID: 31678974
    [Abstract] [Full Text] [Related]

  • 12. 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 15; 164A(8):1947-52. PubMed ID: 24737742
    [Abstract] [Full Text] [Related]

  • 13. A complex phenotype in a family with a pathogenic SOX3 missense variant.
    Jelsig AM, Diness BR, Kreiborg S, Main KM, Larsen VA, Hove H.
    Eur J Med Genet; 2018 Mar 15; 61(3):168-172. PubMed ID: 29175558
    [Abstract] [Full Text] [Related]

  • 14. Toward a therapeutic strategy for polyalanine expansions disorders: in vivo and in vitro models for drugs analysis.
    Di Zanni E, Ceccherini I, Bachetti T.
    Eur J Paediatr Neurol; 2011 Sep 15; 15(5):449-52. PubMed ID: 21388845
    [Abstract] [Full Text] [Related]

  • 15. X-linked isolated growth hormone deficiency: expanding the phenotypic spectrum of SOX3 polyalanine tract expansions.
    Burkitt Wright EM, Perveen R, Clayton PE, Hall CM, Costa T, Procter AM, Giblin CA, Donnai D, Black GC.
    Clin Dysmorphol; 2009 Oct 15; 18(4):218-21. PubMed ID: 19654509
    [No Abstract] [Full Text] [Related]

  • 16. Molecular characterization of HOXA13 polyalanine expansion proteins in hand-foot-genital syndrome.
    Utsch B, McCabe CD, Galbraith K, Gonzalez R, Born M, Dötsch J, Ludwig M, Reutter H, Innis JW.
    Am J Med Genet A; 2007 Dec 15; 143A(24):3161-8. PubMed ID: 17935235
    [Abstract] [Full Text] [Related]

  • 17. Functional Equivalence of the SOX2 and SOX3 Transcription Factors in the Developing Mouse Brain and Testes.
    Adikusuma F, Pederick D, McAninch D, Hughes J, Thomas P.
    Genetics; 2017 Jul 15; 206(3):1495-1503. PubMed ID: 28515211
    [Abstract] [Full Text] [Related]

  • 18. Xq26.3-q27.1 duplication including SOX3 gene in a Chinese boy with hypopituitarism: case report and two years treatment follow up.
    Du C, Wang F, Li Z, Zhang M, Yu X, Liang Y, Luo X.
    BMC Med Genomics; 2022 Feb 03; 15(1):19. PubMed ID: 35114986
    [Abstract] [Full Text] [Related]

  • 19. Transcriptional dysregulation and impairment of PHOX2B auto-regulatory mechanism induced by polyalanine expansion mutations associated with congenital central hypoventilation syndrome.
    Di Lascio S, Bachetti T, Saba E, Ceccherini I, Benfante R, Fornasari D.
    Neurobiol Dis; 2013 Feb 03; 50():187-200. PubMed ID: 23103552
    [Abstract] [Full Text] [Related]

  • 20. A molecular pathogenesis for transcription factor associated poly-alanine tract expansions.
    Albrecht AN, Kornak U, Böddrich A, Süring K, Robinson PN, Stiege AC, Lurz R, Stricker S, Wanker EE, Mundlos S.
    Hum Mol Genet; 2004 Oct 15; 13(20):2351-9. PubMed ID: 15333588
    [Abstract] [Full Text] [Related]

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