BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

157 related articles for article (PubMed ID: 22419735)

  • 1. A novel missense mutation in the SH2 domain of the STAT5B gene results in a transcriptionally inactive STAT5b associated with severe IGF-I deficiency, immune dysfunction, and lack of pulmonary disease.
    Scaglia PA; Martínez AS; Feigerlová E; Bezrodnik L; Gaillard MI; Di Giovanni D; Ballerini MG; Jasper HG; Heinrich JJ; Fang P; Domené HM; Rosenfeld RG; Hwa V
    J Clin Endocrinol Metab; 2012 May; 97(5):E830-9. PubMed ID: 22419735
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A mutant signal transducer and activator of transcription 5b, associated with growth hormone insensitivity and insulin-like growth factor-I deficiency, cannot function as a signal transducer or transcription factor.
    Fang P; Kofoed EM; Little BM; Wang X; Ross RJ; Frank SJ; Hwa V; Rosenfeld RG
    J Clin Endocrinol Metab; 2006 Apr; 91(4):1526-34. PubMed ID: 16464942
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Clinical and biochemical characteristics of a male patient with a novel homozygous STAT5b mutation.
    Vidarsdottir S; Walenkamp MJ; Pereira AM; Karperien M; van Doorn J; van Duyvenvoorde HA; White S; Breuning MH; Roelfsema F; Kruithof MF; van Dissel J; Janssen R; Wit JM; Romijn JA
    J Clin Endocrinol Metab; 2006 Sep; 91(9):3482-5. PubMed ID: 16787985
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Primary growth hormone (GH) insensitivity and insulin-like growth factor deficiency caused by novel compound heterozygous mutations of the GH receptor gene: genetic and functional studies of simple and compound heterozygous states.
    Fang P; Riedl S; Amselem S; Pratt KL; Little BM; Haeusler G; Hwa V; Frisch H; Rosenfeld RG
    J Clin Endocrinol Metab; 2007 Jun; 92(6):2223-31. PubMed ID: 17405847
    [TBL] [Abstract][Full Text] [Related]  

  • 5. The growth hormone receptor (GHR) c.899dupC mutation functions as a dominant negative: insights into the pathophysiology of intracellular GHR defects.
    Derr MA; Aisenberg J; Fang P; Tenenbaum-Rakover Y; Rosenfeld RG; Hwa V
    J Clin Endocrinol Metab; 2011 Nov; 96(11):E1896-904. PubMed ID: 21900382
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Severe growth hormone insensitivity resulting from total absence of signal transducer and activator of transcription 5b.
    Hwa V; Little B; Adiyaman P; Kofoed EM; Pratt KL; Ocal G; Berberoglu M; Rosenfeld RG
    J Clin Endocrinol Metab; 2005 Jul; 90(7):4260-6. PubMed ID: 15827093
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Severe growth deficiency is associated with STAT5b mutations that disrupt protein folding and activity.
    Varco-Merth B; Feigerlová E; Shinde U; Rosenfeld RG; Hwa V; Rotwein P
    Mol Endocrinol; 2013 Jan; 27(1):150-61. PubMed ID: 23160480
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A novel STAT5B mutation causing GH insensitivity syndrome associated with hyperprolactinemia and immune dysfunction in two male siblings.
    Pugliese-Pires PN; Tonelli CA; Dora JM; Silva PC; Czepielewski M; Simoni G; Arnhold IJ; Jorge AA
    Eur J Endocrinol; 2010 Aug; 163(2):349-55. PubMed ID: 20538865
    [TBL] [Abstract][Full Text] [Related]  

  • 9. STAT5B deficiency: Impacts on human growth and immunity.
    Hwa V
    Growth Horm IGF Res; 2016 Jun; 28():16-20. PubMed ID: 26703237
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Growth hormone insensitivity and severe short stature in siblings: a novel mutation at the exon 13-intron 13 junction of the STAT5b gene.
    Hwa V; Camacho-Hübner C; Little BM; David A; Metherell LA; El-Khatib N; Savage MO; Rosenfeld RG
    Horm Res; 2007; 68(5):218-24. PubMed ID: 17389811
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Current issues on molecular diagnosis of GH signaling defects.
    Feigerlova E; Hwa V; Derr MA; Rosenfeld RG
    Endocr Dev; 2013; 24():118-27. PubMed ID: 23392100
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Growth hormone secretion and immunological function of a male patient with a homozygous STAT5b mutation.
    Walenkamp MJ; Vidarsdottir S; Pereira AM; Karperien M; van Doorn J; van Duyvenvoorde HA; Breuning MH; Roelfsema F; Kruithof MF; van Dissel J; Janssen R; Wit JM; Romijn JA
    Eur J Endocrinol; 2007 Feb; 156(2):155-65. PubMed ID: 17287404
    [TBL] [Abstract][Full Text] [Related]  

  • 13. STAT5b deficiency: lessons from STAT5b gene mutations.
    Hwa V; Nadeau K; Wit JM; Rosenfeld RG
    Best Pract Res Clin Endocrinol Metab; 2011 Feb; 25(1):61-75. PubMed ID: 21396575
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A novel heterozygous STAT5B variant in a patient with short stature and partial growth hormone insensitivity (GHI).
    Ramírez L; Sanguineti N; Scaglia P; Keselman A; Ballerini MG; Karabatas L; Landi E; Castro J; Domené S; Pennisi P; Jasper H; Rey RA; Vázquez M; Domené H; Bergadá I; Gutiérrez M
    Growth Horm IGF Res; 2020 Feb; 50():61-70. PubMed ID: 31902742
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Spectrum of insulin-like growth factor deficiency.
    Wit JM; Oostdijk W; Losekoot M
    Endocr Dev; 2012; 23():30-41. PubMed ID: 23182818
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Atypical STAT5B deficiency, severe short stature and mild immunodeficiency associated with a novel homozygous STAT5B Variant.
    Catli G; Gao W; Foley C; Özyilmaz B; Edeer N; Diniz G; Losekoot M; van Doorn J; Dauber A; Dundar BN; Wit JM; Hwa V
    Mol Cell Endocrinol; 2023 Jan; 559():111799. PubMed ID: 36265659
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation.
    Klammt J; Neumann D; Gevers EF; Andrew SF; Schwartz ID; Rockstroh D; Colombo R; Sanchez MA; Vokurkova D; Kowalczyk J; Metherell LA; Rosenfeld RG; Pfäffle R; Dattani MT; Dauber A; Hwa V
    Nat Commun; 2018 May; 9(1):2105. PubMed ID: 29844444
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Characterization of immunodeficiency in a patient with growth hormone insensitivity secondary to a novel STAT5b gene mutation.
    Bernasconi A; Marino R; Ribas A; Rossi J; Ciaccio M; Oleastro M; Ornani A; Paz R; Rivarola MA; Zelazko M; Belgorosky A
    Pediatrics; 2006 Nov; 118(5):e1584-92. PubMed ID: 17030597
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Atypical defects resulting in growth hormone insensitivity.
    Wit JM; de Luca F
    Growth Horm IGF Res; 2016 Jun; 28():57-61. PubMed ID: 26670721
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [STAT5B deficiency: a new growth hormone insensitivity syndrome associated to immunological dysfunction].
    Scalco RC; Pugliese-Pires PN; Jorge AA
    Arq Bras Endocrinol Metabol; 2013 Jul; 57(5):333-8. PubMed ID: 23896798
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.