Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

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
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 20 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Wachstumshormoninsensitivität mit Immundefizit
STAT5B

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 external link
24.

NCBI article

NCBI 6777 external link
25.

OMIM.ORG article

Omim 604260 external link
Update: 14. August 2020
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