Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Forkheadbox-Protein P3

Das FOXP3-Gen kodiert einen Transkriptionsfaktor, der bei der Reifung bestimmter regulatorischer T-Lymphozyten eine Rolle spielt. Mutationen sind für die x-chromosomale rezessive Erkrankung mit Immunschwäche und Diabetes Typ 1 verantwortlich.

Diagnostik:

Clinic 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:

Autoimmundiabetes
FOXP3
HLA-DQA1
X-chromosomale Immundysregulation, Polyendokrinopathie und Enteropathie
FOXP3

Referenzen:

1.

Lyon MF et. al. (1990) The scurfy mouse mutant has previously unrecognized hematological abnormalities and resembles Wiskott-Aldrich syndrome.

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2.

Powell BR et. al. (1982) An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy.

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3.

Clark LB et. al. (1999) Cellular and molecular characterization of the scurfy mouse mutant.

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4.

Ferguson PJ et. al. (2000) Manifestations and linkage analysis in X-linked autoimmunity-immunodeficiency syndrome.

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5.

Chatila TA et. al. (2000) JM2, encoding a fork head-related protein, is mutated in X-linked autoimmunity-allergic disregulation syndrome.

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6.

Wildin RS et. al. (2001) X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy.

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7.

Bennett CL et. al. (2001) The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3.

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8.

Brunkow ME et. al. (2001) Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse.

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9.

Levy-Lahad E et. al. (2001) Neonatal diabetes mellitus, enteropathy, thrombocytopenia, and endocrinopathy: Further evidence for an X-linked lethal syndrome.

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10.

Khattri R et. al. (2001) The amount of scurfin protein determines peripheral T cell number and responsiveness.

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11.

Hori S et. al. (2003) Control of regulatory T cell development by the transcription factor Foxp3.

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12.

Fontenot JD et. al. (2003) Foxp3 programs the development and function of CD4+CD25+ regulatory T cells.

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13.

Khattri R et. al. (2003) An essential role for Scurfin in CD4+CD25+ T regulatory cells.

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14.

Bassuny WM et. al. (2003) A functional polymorphism in the promoter/enhancer region of the FOXP3/Scurfin gene associated with type 1 diabetes.

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15.

Owen CJ et. al. (2003) Mutational analysis of the FOXP3 gene and evidence for genetic heterogeneity in the immunodysregulation, polyendocrinopathy, enteropathy syndrome.

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16.

Miura Y et. al. (2004) Association of Foxp3 regulatory gene expression with graft-versus-host disease.

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17.

Stock P et. al. (2004) Induction of T helper type 1-like regulatory cells that express Foxp3 and protect against airway hyper-reactivity.

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18.

Bettelli E et. al. (2005) Foxp3 interacts with nuclear factor of activated T cells and NF-kappa B to repress cytokine gene expression and effector functions of T helper cells.

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19.

Wan YY et. al. (2005) Identifying Foxp3-expressing suppressor T cells with a bicistronic reporter.

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20.

Hong J et. al. (2005) Induction of CD4+CD25+ regulatory T cells by copolymer-I through activation of transcription factor Foxp3.

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21.

Allan SE et. al. (2005) The role of 2 FOXP3 isoforms in the generation of human CD4+ Tregs.

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22.

Bacchetta R et. al. (2006) Defective regulatory and effector T cell functions in patients with FOXP3 mutations.

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23.

Smith EL et. al. (2006) Splice variants of human FOXP3 are functional inhibitors of human CD4+ T-cell activation.

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24.

Pennington DJ et. al. (2006) Early events in the thymus affect the balance of effector and regulatory T cells.

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25.

Lahl K et. al. (2007) Selective depletion of Foxp3+ regulatory T cells induces a scurfy-like disease.

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26.

Gavin MA et. al. (2007) Foxp3-dependent programme of regulatory T-cell differentiation.

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27.

Wan YY et. al. (2007) Regulatory T-cell functions are subverted and converted owing to attenuated Foxp3 expression.

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28.

Zheng Y et. al. (2007) Genome-wide analysis of Foxp3 target genes in developing and mature regulatory T cells.

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29.

Marson A et. al. (2007) Foxp3 occupancy and regulation of key target genes during T-cell stimulation.

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30.

Ono M et. al. (2007) Foxp3 controls regulatory T-cell function by interacting with AML1/Runx1.

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31.

Zuo T et. al. (2007) FOXP3 is an X-linked breast cancer suppressor gene and an important repressor of the HER-2/ErbB2 oncogene.

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32.

Suzuki S et al. (2007) Molecular basis of neonatal diabetes in Japanese patients.

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33.

Zuo T et. al. (2007) FOXP3 is a novel transcriptional repressor for the breast cancer oncogene SKP2.

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34.

Ricciardelli I et. al. (2008) Anti tumour necrosis-alpha therapy increases the number of FOXP3 regulatory T cells in children affected by Crohn's disease.

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35.

Lund JM et. al. (2008) Coordination of early protective immunity to viral infection by regulatory T cells.

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36.

Zheng Y et. al. (2009) Regulatory T-cell suppressor program co-opts transcription factor IRF4 to control T(H)2 responses.

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37.

Tsuji M et. al. (2009) Preferential generation of follicular B helper T cells from Foxp3+ T cells in gut Peyer's patches.

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38.

Feuerer M et. al. (2009) Lean, but not obese, fat is enriched for a unique population of regulatory T cells that affect metabolic parameters.

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39.

Pan F et. al. (2009) Eos mediates Foxp3-dependent gene silencing in CD4+ regulatory T cells.

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40.

Casetti R et. al. (2009) Cutting edge: TGF-beta1 and IL-15 Induce FOXP3+ gammadelta regulatory T cells in the presence of antigen stimulation.

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41.

Lanteri MC et. al. (2009) Tregs control the development of symptomatic West Nile virus infection in humans and mice.

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42.

Zheng Y et. al. (2010) Role of conserved non-coding DNA elements in the Foxp3 gene in regulatory T-cell fate.

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43.

Toulza F et. al. (2010) Human T-lymphotropic virus type 1-induced CC chemokine ligand 22 maintains a high frequency of functional FoxP3+ regulatory T cells.

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44.

Liu B et. al. (2010) The ligase PIAS1 restricts natural regulatory T cell differentiation by epigenetic repression.

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45.

Mold JE et. al. (2010) Fetal and adult hematopoietic stem cells give rise to distinct T cell lineages in humans.

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46.

Rowe JH et. al. (2011) Foxp3(+) regulatory T cell expansion required for sustaining pregnancy compromises host defense against prenatal bacterial pathogens.

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47.

Dang EV et. al. (2011) Control of T(H)17/T(reg) balance by hypoxia-inducible factor 1.

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48.

Rowe JH et. al. (2012) Pregnancy imprints regulatory memory that sustains anergy to fetal antigen.

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49.

Huang C et. al. (2013) Cutting Edge: a novel, human-specific interacting protein couples FOXP3 to a chromatin-remodeling complex that contains KAP1/TRIM28.

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50.

Sharma MD et. al. (2013) An inherently bifunctional subset of Foxp3+ T helper cells is controlled by the transcription factor eos.

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51.

Smigiel KS et. al. (2014) CCR7 provides localized access to IL-2 and defines homeostatically distinct regulatory T cell subsets.

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