Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

STAT1-Gen

Das STAT1-Gen kodiert einen Transkriptionsfaktor der durch verschiedene Interleukine aktiviert werden kann, dazu gehören Interferon-alpha, Interferon-gamma, EGF, PDGF und Interleukin 6. Mutationen können zu autosomal dominanten und rezessiven Störungen der Immunantwort führen.

Diagnostik:

Research Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Immundefekt 31A
STAT1
Immundefekt 31B
STAT1
Immundefekt 31C
STAT1

Referenzen:

1.

Braumüller H et al. (2013) T-helper-1-cell cytokines drive cancer into senescence.

[^]
2.

Schindler C et. al. (1992) Proteins of transcription factor ISGF-3: one gene encodes the 91-and 84-kDa ISGF-3 proteins that are activated by interferon alpha.

[^]
3.

Fu XY et. al. (1990) ISGF3, the transcriptional activator induced by interferon alpha, consists of multiple interacting polypeptide chains.

[^]
4.

None (1995) Cytokine receptor signalling.

[^]
5.

Ihle JN et. al. (1995) Jaks and Stats in signaling by the cytokine receptor superfamily.

[^]
6.

Darnell JE et. al. (1994) Jak-STAT pathways and transcriptional activation in response to IFNs and other extracellular signaling proteins.

[^]
7.

Copeland NG et. al. (1995) Distribution of the mammalian Stat gene family in mouse chromosomes.

[^]
8.

None (1996) STATs: signal transducers and activators of transcription.

[^]
9.

Meraz MA et. al. (1996) Targeted disruption of the Stat1 gene in mice reveals unexpected physiologic specificity in the JAK-STAT signaling pathway.

[^]
10.

Durbin JE et. al. (1996) Targeted disruption of the mouse Stat1 gene results in compromised innate immunity to viral disease.

[^]
11.

Yamamoto K et. al. (1997) cDNA cloning, expression and chromosome mapping of the human STAT4 gene: both STAT4 and STAT1 genes are mapped to 2q32.2-->q32.3.

[^]
12.

Chen X et. al. (1998) Crystal structure of a tyrosine phosphorylated STAT-1 dimer bound to DNA.

[^]
13.

Kaplan DH et. al. (1998) Demonstration of an interferon gamma-dependent tumor surveillance system in immunocompetent mice.

[^]
14.

Haddad B et. al. (1998) Assignment1 of STAT1 to human chromosome 2q32 by FISH and radiation hybrids.

[^]
15.

Ramana CV et. al. (2000) Complex roles of Stat1 in regulating gene expression.

[^]
16.

Mowen KA et. al. (2001) Arginine methylation of STAT1 modulates IFNalpha/beta-induced transcription.

[^]
17.

Shankaran V et. al. (2001) IFNgamma and lymphocytes prevent primary tumour development and shape tumour immunogenicity.

[^]
18.

Dupuis S et. al. (2001) Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation.

[^]
19.

Spagnoli A et. al. (2002) Identification of STAT-1 as a molecular target of IGFBP-3 in the process of chondrogenesis.

[^]
20.

Wang J et. al. (2002) STAT1 deficiency unexpectedly and markedly exacerbates the pathophysiological actions of IFN-alpha in the central nervous system.

[^]
21.

Dupuis S et. al. (2003) Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency.

[^]
22.

Hikasa M et. al. (2003) p21waf1/cip1 is down-regulated in conjunction with up-regulation of c-Fos in the lymphocytes of rheumatoid arthritis patients.

[^]
23.

Takeda A et. al. (2003) Cutting edge: role of IL-27/WSX-1 signaling for induction of T-bet through activation of STAT1 during initial Th1 commitment.

[^]
24.

Takeuchi K et. al. (2003) Measles virus V protein blocks interferon (IFN)-alpha/beta but not IFN-gamma signaling by inhibiting STAT1 and STAT2 phosphorylation.

[^]
25.

Kim S et. al. (2003) Stat1 functions as a cytoplasmic attenuator of Runx2 in the transcriptional program of osteoblast differentiation.

[^]
26.

Rodriguez JJ et. al. (2003) Hendra virus V protein inhibits interferon signaling by preventing STAT1 and STAT2 nuclear accumulation.

[^]
27.

Wesemann DR et. al. (2004) TRADD interacts with STAT1-alpha and influences interferon-gamma signaling.

[^]
28.

Xiao L et. al. (2004) Stat1 controls postnatal bone formation by regulating fibroblast growth factor signaling in osteoblasts.

[^]
29.

Rosenzweig SD et. al. (2005) Defects in the interferon-gamma and interleukin-12 pathways.

[^]
30.

Hartman SE et. al. (2005) Global changes in STAT target selection and transcription regulation upon interferon treatments.

[^]
31.

Chapgier A et. al. (2006) Human complete Stat-1 deficiency is associated with defective type I and II IFN responses in vitro but immunity to some low virulence viruses in vivo.

[^]
32.

Chapgier A et. al. (2006) Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease.

[^]
33.

Kosaka H et al. (2008) Interferon-gamma is a therapeutic target molecule for prevention of postoperative adhesion formation.

[^]
34.

Kong XF et. al. (2010) A novel form of human STAT1 deficiency impairing early but not late responses to interferons.

[^]
35.

van de Veerdonk FL et. al. (2011) STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis.

[^]
36.

Liu L et. al. (2011) Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.

[^]
37.

Smeekens SP et. al. (2011) STAT1 hyperphosphorylation and defective IL12R/IL23R signaling underlie defective immunity in autosomal dominant chronic mucocutaneous candidiasis.

[^]
38.

Tsumura M et. al. (2012) Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial disease.

[^]
39.

Uzel G et. al. (2013) Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome.

[^]
40.

Sampaio EP et. al. (2013) Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis.

[^]
41.

Soltész B et. al. (2013) New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe.

[^]
42.

Xu W et. al. (2014) Ebola virus VP24 targets a unique NLS binding site on karyopherin alpha 5 to selectively compete with nuclear import of phosphorylated STAT1.

[^]
43.

Leopold Wager CM et. al. (2014) STAT1 signaling is essential for protection against Cryptococcus neoformans infection in mice.

[^]
44.

Yamazaki Y et. al. (2014) Two novel gain-of-function mutations of STAT1 responsible for chronic mucocutaneous candidiasis disease: impaired production of IL-17A and IL-22, and the presence of anti-IL-17F autoantibody.

[^]

 

 
Ihre Nachricht: