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Endothelialer Transkriptionsfaktor GATA-2

Das GATA2-gen kodiert einen Transkriptionsfaktor. Mutationen verursachen verschiedene autosomal dominante Störungen, wie die Anfalligkeit für akute Leukämie und Myelodysplasie, Immundefekt 21 und Emberger-Syndrom.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Emberger-Syndrom
GATA2
Immundefekt 21
GATA2
Erbliche Anfälligkeit für akute myeloische Leukämie
GATA2
Erbliche Anfälligkeit für myelodysplastisches Syndrom
GATA2

Referenzen:

1.

Mansour S et al. (2010) Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new cases.

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2.

Brenner S et al. (2015) Transcriptional regulation of the α-synuclein gene in human brain tissue.

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3.

Kazenwadel J et al. (2012) Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature.

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4.

Mammoto A et al. (2009) A mechanosensitive transcriptional mechanism that controls angiogenesis.

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5.

Zhang SJ et al. (2008) Gain-of-function mutation of GATA-2 in acute myeloid transformation of chronic myeloid leukemia.

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6.

Pimanda JE et al. (2007) Gata2, Fli1, and Scl form a recursively wired gene-regulatory circuit during early hematopoietic development.

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7.

Connelly JJ et al. (2006) GATA2 is associated with familial early-onset coronary artery disease.

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8.

Chun TH et al. (2003) Modification of GATA-2 transcriptional activity in endothelial cells by the SUMO E3 ligase PIASy.

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9.

Wieser R et al. (2000) Transcription factor GATA-2 gene is located near 3q21 breakpoints in myeloid leukemia.

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10.

Dasen JS et al. (1999) Reciprocal interactions of Pit1 and GATA2 mediate signaling gradient-induced determination of pituitary cell types.

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11.

Zhou Y et al. (1998) Rescue of the embryonic lethal hematopoietic defect reveals a critical role for GATA-2 in urogenital development.

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12.

Ciciotte SL et al. (1997) Gata2 maps to mouse chromosome 6.

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13.

Briegel K et al. (1993) Ectopic expression of a conditional GATA-2/estrogen receptor chimera arrests erythroid differentiation in a hormone-dependent manner.

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14.

Tsai FY et al. (1994) An early haematopoietic defect in mice lacking the transcription factor GATA-2.

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15.

Lee ME et al. (1991) Cloning of the GATA-binding protein that regulates endothelin-1 gene expression in endothelial cells.

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16.

Dorfman DM et al. (1992) Human transcription factor GATA-2. Evidence for regulation of preproendothelin-1 gene expression in endothelial cells.

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17.

Mace EM et al. (2013) Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56(bright) subset.

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18.

Johnson KD et al. (2012) Cis-element mutated in GATA2-dependent immunodeficiency governs hematopoiesis and vascular integrity.

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19.

Dickinson RE et al. (2011) Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency.

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20.

Hsu AP et al. (2011) Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.

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21.

Bigley V et al. (2011) The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency.

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22.

Vinh DC et al. (2010) Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia.

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23.

Biron CA et al. (1989) Severe herpesvirus infections in an adolescent without natural killer cells.

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24.

Hahn CN et al. (2011) Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia.

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25.

Ostergaard P et al. (2011) Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome).

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26.

Tong Q et al. (2000) Function of GATA transcription factors in preadipocyte-adipocyte transition.

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27.

Orphanet article

Orphanet ID 274222 external link
28.

NCBI article

NCBI 2624 external link
29.

OMIM.ORG article

Omim 137295 external link
Update: 14. August 2020
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