Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Dapper-Homolog 1

Das DACT1-Gen kodiert ein Protein welche eine Rolle bei der Signaltransduktion während der Ontogenese spielt. Mutationen rufen das Townes-Brocks-Syndrome 2 hervor.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Townes-Brocks-Syndrome 2
DACT1

Referenzen:

1.

Cheyette BN et. al. (2002) Dapper, a Dishevelled-associated antagonist of beta-catenin and JNK signaling, is required for notochord formation.

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2.

Katoh M et. al. (2003) Identification and characterization of human DAPPER1 and DAPPER2 genes in silico.

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3.

Park JI et. al. (2006) Frodo links Dishevelled to the p120-catenin/Kaiso pathway: distinct catenin subfamilies promote Wnt signals.

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4.

Suriben R et. al. (2009) Posterior malformations in Dact1 mutant mice arise through misregulated Vangl2 at the primitive streak.

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5.

Shi Y et. al. (2012) Identification of novel rare mutations of DACT1 in human neural tube defects.

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6.

Webb BD et. al. (2017) Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal-Dominant Syndrome with Features Overlapping Townes-Brocks Syndrome.

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