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 |
Verknüpfte Erkrankungen:
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
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28. |
NCBI article
NCBI 2624
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29. |
OMIM.ORG article
Omim 137295
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Update: 14. August 2020