Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

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:

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

Referenzen:

1.

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

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2.

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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3.

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

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4.

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

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5.

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

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6.

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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7.

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

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8.

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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9.

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

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10.

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

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11.

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

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12.

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

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13.

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

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14.

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

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15.

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

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16.

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

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17.

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

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18.

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

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19.

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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20.

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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21.

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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22.

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

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23.

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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24.

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

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25.

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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26.

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

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