Signalünerträger und Aktivator der Transkription 5B
Das STAT5B-Gen kodiert einen Transkriptionsfaktor der insbesondere für die Signalübertragung vom Wachstumshormonrezeptor ene Bedeutung besitzt. Funktionsmindernde Mutationen führen zur autosomal rezessiven Erkrankung der Wachstumshormoninsensitivität mit Immundefizit.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Kofoed EM et al. (2003) Growth hormone insensitivity associated with a STAT5b mutation.
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2. |
Boucheron C et al. (1998) A single amino acid in the DNA binding regions of STAT5A and STAT5B confers distinct DNA binding specificities.
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3. |
Wang D et al. (1996) Naturally occurring dominant negative variants of Stat5.
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4. |
Lin JX et al. (1996) Cloning of human Stat5B. Reconstitution of interleukin-2-induced Stat5A and Stat5B DNA binding activity in COS-7 cells.
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5. |
Vignudelli T et al. (2010) ZFP36L1 negatively regulates erythroid differentiation of CD34+ hematopoietic stem cells by interfering with the Stat5b pathway.
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6. |
Fang P et al. (2006) 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.
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7. |
Yao Z et al. (2006) Stat5a/b are essential for normal lymphoid development and differentiation.
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8. |
Wawersik M et al. (2005) Somatic control of germline sexual development is mediated by the JAK/STAT pathway.
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9. |
Cui Y et al. (2004) Inactivation of Stat5 in mouse mammary epithelium during pregnancy reveals distinct functions in cell proliferation, survival, and differentiation.
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10. |
Brawley C et al. (2004) Regeneration of male germline stem cells by spermatogonial dedifferentiation in vivo.
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11. |
Crispi S et al. (2004) Characterization of the human STAT5A and STAT5B promoters: evidence of a positive and negative mechanism of transcriptional regulation.
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12. |
Snow JW et al. (2003) Loss of tolerance and autoimmunity affecting multiple organs in STAT5A/5B-deficient mice.
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13. |
Mak IY et al. (2002) Regulated expression of signal transducer and activator of transcription, Stat5, and its enhancement of PRL expression in human endometrial stromal cells in vitro.
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14. |
Ambrosio R et al. (2002) The structure of human STAT5A and B genes reveals two regions of nearly identical sequence and an alternative tissue specific STAT5B promoter.
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15. |
Miyoshi K et al. (2001) Structure of the mouse Stat 3/5 locus: evolution from Drosophila to zebrafish to mouse.
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16. |
Arnould C et al. (1999) The signal transducer and activator of transcription STAT5b gene is a new partner of retinoic acid receptor alpha in acute promyelocytic-like leukaemia.
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17. |
Hwa V et al. (2007) Growth hormone insensitivity and severe short stature in siblings: a novel mutation at the exon 13-intron 13 junction of the STAT5b gene.
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18. |
Bernasconi A et al. (2006) Characterization of immunodeficiency in a patient with growth hormone insensitivity secondary to a novel STAT5b gene mutation.
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19. |
Cohen AC et al. (2006) Cutting edge: Decreased accumulation and regulatory function of CD4+ CD25(high) T cells in human STAT5b deficiency.
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20. |
Vidarsdottir S et al. (2006) Clinical and biochemical characteristics of a male patient with a novel homozygous STAT5b mutation.
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21. |
Hwa V et al. (2005) Severe growth hormone insensitivity resulting from total absence of signal transducer and activator of transcription 5b.
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22. |
Schwaller J et al. (2000) Stat5 is essential for the myelo- and lymphoproliferative disease induced by TEL/JAK2.
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23. |
Orphanet article
Orphanet ID 119882
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24. |
NCBI article
NCBI 6777
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25. |
OMIM.ORG article
Omim 604260
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Update: 14. August 2020