Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Tribbles-Homolog 1

Das TRIB1-Gen kodiert einen Regulator des Kohlenhydratstoffwechsel mit Auswirkungen auch auf den Lipidstoffwechsel. Aus diesem Grunde finden sich in genomweiten Assoziationsstudien Verbindungen zur Hyperlipämie und zur korobaren Herzkrankheit. Der genaue Mechanismus der Wirkungsweise diese Proteins ist noch nicht bekannt.

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:

Gestörte Regulatoren des Lipid- und Kohlenhydratstoffwechsels
GCKR
GPD1
MLXIPL
TRIB1

Referenzen:

1.

Cefalù AB et. al. () Identification of a novel LMF1 nonsense mutation responsible for severe hypertriglyceridemia by targeted next-generation sequencing.

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2.

Wilkin F et. al. (1997) Characterization of a phosphoprotein whose mRNA is regulated by the mitogenic pathways in dog thyroid cells.

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3.

Wu M et. al. (2003) SINK is a p65-interacting negative regulator of NF-kappaB-dependent transcription.

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4.

Storlazzi CT et. al. (2004) Identification of a commonly amplified 4.3 Mb region with overexpression of C8FW, but not MYC in MYC-containing double minutes in myeloid malignancies.

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5.

Kiss-Toth E et. al. (2004) Human tribbles, a protein family controlling mitogen-activated protein kinase cascades.

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6.

Satoh T et. al. (2013) Critical role of Trib1 in differentiation of tissue-resident M2-like macrophages.

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7.

Yoshida A et. al. (2013) COP1 targets C/EBPα for degradation and induces acute myeloid leukemia via Trib1.

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8.

Hegedus Z et. al. (2006) Tribbles: novel regulators of cell function; evolutionary aspects.

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9.

Bauer RC et. al. (2011) Functional validation of new pathways in lipoprotein metabolism identified by human genetics.

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10.

Ahmadzadeh A et. al. (2014) Genes associated with low serum high-density lipoprotein cholesterol.

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11.

Bauer RC et. al. (2015) Tribbles-1: a novel regulator of hepatic lipid metabolism in humans.

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12.

Iwamoto S et. al. (2015) The role of TRIB1 in lipid metabolism; from genetics to pathways.

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13.

Kahali B et. al. (2015) Insights from Genome-Wide Association Analyses of Nonalcoholic Fatty Liver Disease.

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14.

Stein SJ et. al. (2015) Tribbles in normal and malignant haematopoiesis.

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15.

Eyers PA et. al. (2017) Tribbles in the 21st Century: The Evolving Roles of Tribbles Pseudokinases in Biology and Disease.

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