Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

GATA-Bindungsprotein 3

Das Trasnkriptionsprodukt des GATA3-Gens ist ein Zink-Finger-Transkriptionsfaktor. Trunkierende Mutationen sind für die autosomal dominante Erkrankung HDRS verantwortlich (Hypoparathyreoidismus mit Innenohrschwerhörigkeit und renaler Dysplasie)

Diagnostik:

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

Krankheiten:

HDR-Syndrom
GATA3

Referenzen:

1.

Lim KC et al. (2000) Gata3 loss leads to embryonic lethality due to noradrenaline deficiency of the sympathetic nervous system.

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2.

Van Esch H et al. (2000) GATA3 haplo-insufficiency causes human HDR syndrome.

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3.

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

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4.

Muroya K et al. (2001) GATA3 abnormalities and the phenotypic spectrum of HDR syndrome.

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5.

Fields PE et al. (2002) Cutting edge: changes in histone acetylation at the IL-4 and IFN-gamma loci accompany Th1/Th2 differentiation.

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6.

Kaufman CK et al. (2003) GATA-3: an unexpected regulator of cell lineage determination in skin.

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7.

Pai SY et al. (2003) Critical roles for transcription factor GATA-3 in thymocyte development.

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8.

Nesbit MA et al. (2004) Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome.

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9.

van der Wees J et al. (2004) Hearing loss following Gata3 haploinsufficiency is caused by cochlear disorder.

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10.

Zhu J et al. (2004) Conditional deletion of Gata3 shows its essential function in T(H)1-T(H)2 responses.

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11.

Hwang ES et al. (2005) T helper cell fate specified by kinase-mediated interaction of T-bet with GATA-3.

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12.

Chiu WY et al. (2006) Identification of three novel mutations in the GATA3 gene responsible for familial hypoparathyroidism and deafness in the Chinese population.

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13.

Chen GY et al. (2006) Interaction of GATA-3/T-bet transcription factors regulates expression of sialyl Lewis X homing receptors on Th1/Th2 lymphocytes.

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14.

Kouros-Mehr H et al. (2006) GATA-3 maintains the differentiation of the luminal cell fate in the mammary gland.

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15.

Ali A et al. (2007) Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor.

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16.

Hernández AM et al. (2007) Novel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with female genital tract malformations.

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17.

Marine J et al. (1991) The human enhancer-binding protein Gata3 binds to several T-cell receptor regulatory elements.

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18.

Ferraris S et al. (2009) HDR syndrome: a novel "de novo" mutation in GATA3 gene.

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19.

Sun Y et al. (2009) Germinal mosaicism of GATA3 in a family with HDR syndrome.

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20.

Joulin V et al. (1991) A T-cell specific TCR delta DNA binding protein is a member of the human GATA family.

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21.

Pandolfi PP et al. (1995) Targeted disruption of the GATA3 gene causes severe abnormalities in the nervous system and in fetal liver haematopoiesis.

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22.

Siegel MD et al. (1995) Activation of the interleukin-5 promoter by cAMP in murine EL-4 cells requires the GATA-3 and CLE0 elements.

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23.

Labastie MC et al. (1994) Structure and expression of the human GATA3 gene.

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24.

Copeland NG et. al. (1993) A genetic linkage map of the mouse: current applications and future prospects.

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25.

Zheng W et al. (1997) The transcription factor GATA-3 is necessary and sufficient for Th2 cytokine gene expression in CD4 T cells.

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26.

Zhang DH et al. (1997) Transcription factor GATA-3 is differentially expressed in murine Th1 and Th2 cells and controls Th2-specific expression of the interleukin-5 gene.

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27.

Zhang DH et al. (1998) Differential responsiveness of the IL-5 and IL-4 genes to transcription factor GATA-3.

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28.

Nakamura Y et al. (1999) Gene expression of the GATA-3 transcription factor is increased in atopic asthma.

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