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Signal transducer and activator of transcription 5B

The STAT5B gene encodes a transcription factor whose loss-of-function mutations cause autosomal recessive growth hormone insensitivity with immunodeficiency.


Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 20 days
Specimen type genomic DNA

Related Diseases:

Growth hormone insensitivity with immunodeficiency



Kofoed EM et al. (2003) Growth hormone insensitivity associated with a STAT5b mutation.

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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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Wang D et al. (1996) Naturally occurring dominant negative variants of Stat5.

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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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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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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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Yao Z et al. (2006) Stat5a/b are essential for normal lymphoid development and differentiation.

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Wawersik M et al. (2005) Somatic control of germline sexual development is mediated by the JAK/STAT pathway.

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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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Brawley C et al. (2004) Regeneration of male germline stem cells by spermatogonial dedifferentiation in vivo.

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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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Snow JW et al. (2003) Loss of tolerance and autoimmunity affecting multiple organs in STAT5A/5B-deficient mice.

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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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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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Miyoshi K et al. (2001) Structure of the mouse Stat 3/5 locus: evolution from Drosophila to zebrafish to mouse.

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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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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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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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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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Vidarsdottir S et al. (2006) Clinical and biochemical characteristics of a male patient with a novel homozygous STAT5b mutation.

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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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Schwaller J et al. (2000) Stat5 is essential for the myelo- and lymphoproliferative disease induced by TEL/JAK2.

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Orphanet article

Orphanet ID 119882 external link

NCBI article

NCBI 6777 external link

OMIM.ORG article

Omim 604260 external link

Wikipedia article

Wikipedia EN (STAT5B) external link
Update: Aug. 14, 2020
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