Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Upstream Stimulationsfaktor 1

Das USF1-Gen kodiert einen Transkriptionsfaktor. Eine Assoziation von genetischen Veränderungen in diesem Gen mit der kombinierten familiären Hyperlipämie wurde berichtet.

Diagnostik:

Research 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:

Kombinierte familiäre Hyperlipämie mit Dysfunktion des Fettgewebes
C5AR2
CREB3L3
LEPR
LIPE
PNPLA2
PPARG
USF1
Kombinierte familiäre Hyperlipämie mit VLDL-Überproduktion
APOE
GCKR
OSBPL10
USF1
Kombinierte familiäre Hyperlipämie mit gestörtem VLDL-Metabolismus
ANGPTL8
APOA1
APOA4
APOA5
APOC3
CETP
GALNT2
LCAT
LIPC
LIPG
LPL
RXRG
USF1

Referenzen:

1.

Gregor PD et. al. (1990) The adenovirus major late transcription factor USF is a member of the helix-loop-helix group of regulatory proteins and binds to DNA as a dimer.

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2.

Henrion AA et. al. (1995) Structure, sequence, and chromosomal location of the gene for USF2 transcription factors in mouse.

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3.

Lefrançois-Martinez AM et. al. (1995) Upstream stimulatory factor proteins are major components of the glucose response complex of the L-type pyruvate kinase gene promoter.

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4.

Sirito M et. al. (1994) Ubiquitous expression of the 43- and 44-kDa forms of transcription factor USF in mammalian cells.

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5.

Shieh BH et. al. (1993) Localization of the gene-encoding upstream stimulatory factor (USF) to human chromosome 1q22-q23.

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6.

Steingrímsson E et. al. (1995) Murine chromosomal location of five bHLH-Zip transcription factor genes.

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7.

Viollet B et. al. (1996) Immunochemical characterization and transacting properties of upstream stimulatory factor isoforms.

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8.

Roy AL et. al. (1997) Cloning of an inr- and E-box-binding protein, TFII-I, that interacts physically and functionally with USF1.

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9.

None (1998) Identification of upstream stimulatory factor as transcriptional activator of the liver promoter of the glucokinase gene.

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10.

Vallet VS et. al. (1998) Differential roles of upstream stimulatory factors 1 and 2 in the transcriptional response of liver genes to glucose.

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11.

Casado M et. al. (1999) Essential role in vivo of upstream stimulatory factors for a normal dietary response of the fatty acid synthase gene in the liver.

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12.

Zhong G et. al. (2001) Identification of a chlamydial protease-like activity factor responsible for the degradation of host transcription factors.

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13.

Yago M et. al. (2002) Variant forms of upstream stimulatory factors (USFs) control the promoter activity of hTERT, the human gene encoding the catalytic subunit of telomerase.

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14.

Pajukanta P et. al. (2004) Familial combined hyperlipidemia is associated with upstream transcription factor 1 (USF1).

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15.

None (2004) USF1 on trial.

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16.

Putt W et al. (2004) Variation in USF1 shows haplotype effects, gene : gene and gene : environment associations with glucose and lipid parameters in the European Atherosclerosis Research Study II.

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17.

Coon H et. al. (2005) Upstream stimulatory factor 1 associated with familial combined hyperlipidemia, LDL cholesterol, and triglycerides.

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18.

Naukkarinen J et. al. (2005) USF1 and dyslipidemias: converging evidence for a functional intronic variant.

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19.

Wu S et. al. (2010) Upstream transcription factor 1 influences plasma lipid and metabolic traits in mice.

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20.

Huertas-Vazquez A et. al. (2005) Familial combined hyperlipidemia in Mexicans: association with upstream transcription factor 1 and linkage on chromosome 16q24.1.

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21.

Lee JC et. al. (2007) USF1 contributes to high serum lipid levels in Dutch FCHL families and U.S. whites with coronary artery disease.

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22.

van der Vleuten GM et. al. (2007) The involvement of upstream stimulatory factor 1 in Dutch patients with familial combined hyperlipidemia.

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