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Journal Abstract Search

226 related items for PubMed ID: 39325695

  • 1. 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; 20(9):e1011395. PubMed ID: 39325695
    [Abstract] [Full Text] [Related]

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

  • 3. 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; 99(12):E2702-8. PubMed ID: 25140394
    [Abstract] [Full Text] [Related]

  • 4. 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; 41(9):669-78. PubMed ID: 15342697
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. 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 15; 76(5):833-49. PubMed ID: 15800844
    [Abstract] [Full Text] [Related]

  • 7. Evidence for NG2-glia derived, adult-born functional neurons in the hypothalamus.
    Robins SC, Trudel E, Rotondi O, Liu X, Djogo T, Kryzskaya D, Bourque CW, Kokoeva MV.
    PLoS One; 2013 May 15; 8(10):e78236. PubMed ID: 24205170
    [Abstract] [Full Text] [Related]

  • 8. 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
    [Abstract] [Full Text] [Related]

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

  • 10. 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 Aug 15; 92(6):382-389. PubMed ID: 31678974
    [Abstract] [Full Text] [Related]

  • 11. 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 15; 17(6):569-74. PubMed ID: 24346842
    [Abstract] [Full Text] [Related]

  • 12. 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
    [Abstract] [Full Text] [Related]

  • 13. The Properties and Functions of Glial Cell Types of the Hypothalamic Median Eminence.
    Clayton RW, Lovell-Badge R, Galichet C.
    Front Endocrinol (Lausanne); 2022 Mar 26; 13():953995. PubMed ID: 35966104
    [Abstract] [Full Text] [Related]

  • 14. 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]

  • 15. Adult NG2-Glia Are Required for Median Eminence-Mediated Leptin Sensing and Body Weight Control.
    Djogo T, Robins SC, Schneider S, Kryzskaya D, Liu X, Mingay A, Gillon CJ, Kim JH, Storch KF, Boehm U, Bourque CW, Stroh T, Dimou L, Kokoeva MV.
    Cell Metab; 2016 May 10; 23(5):797-810. PubMed ID: 27166944
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. 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 03; 61(3):168-172. PubMed ID: 29175558
    [Abstract] [Full Text] [Related]

  • 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 Mar 03; 9(3):e1003290. PubMed ID: 23505376
    [Abstract] [Full Text] [Related]

  • 19. SOX3 is required during the formation of the hypothalamo-pituitary axis.
    Rizzoti K, Brunelli S, Carmignac D, Thomas PQ, Robinson IC, Lovell-Badge R.
    Nat Genet; 2004 Mar 03; 36(3):247-55. PubMed ID: 14981518
    [Abstract] [Full Text] [Related]

  • 20. 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 03; 206(3):1495-1503. PubMed ID: 28515211
    [Abstract] [Full Text] [Related]

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