Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Oncogene WNT5A

Das WNT5A-Ge kodiert ein sezerniertes Signalprotein, welches eine wichtige Rolle in der Kanzerogenese und der Entwicklung zu spielen scheint. Mitationen führen zum autosomal dominanten Robinow-Syndrom 1, welches durch mutlpiple Fehbildungen gekennzeichnet ist.

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:

Autosomal dominantes Robinow-Syndrom 1
WNT5A

Referenzen:

1.

Gavin BJ et. al. (1990) Expression of multiple novel Wnt-1/int-1-related genes during fetal and adult mouse development.

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2.

Robinow M et. al. (1969) A newly recognized dwarfing syndrome.

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3.

Clark CC et. al. (1993) Molecular cloning of the human proto-oncogene Wnt-5A and mapping of the gene (WNT5A) to chromosome 3p14-p21.

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4.

He X et. al. (1997) A member of the Frizzled protein family mediating axis induction by Wnt-5A.

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5.

Yamaguchi TP et. al. (1999) A Wnt5a pathway underlies outgrowth of multiple structures in the vertebrate embryo.

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6.

Oishi I et. al. (2003) The receptor tyrosine kinase Ror2 is involved in non-canonical Wnt5a/JNK signalling pathway.

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7.

Mikels AJ et. al. (2006) Purified Wnt5a protein activates or inhibits beta-catenin-TCF signaling depending on receptor context.

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8.

Schleiffarth JR et. al. (2007) Wnt5a is required for cardiac outflow tract septation in mice.

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9.

Zhang X et. al. (2007) Dishevelled promotes axon differentiation by regulating atypical protein kinase C.

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10.

Witze ES et. al. (2008) Wnt5a control of cell polarity and directional movement by polarized redistribution of adhesion receptors.

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11.

Ford CE et. al. (2009) Wnt-5a signaling restores tamoxifen sensitivity in estrogen receptor-negative breast cancer cells.

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12.

Person AD et. al. (2010) WNT5A mutations in patients with autosomal dominant Robinow syndrome.

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13.

Stefater JA et. al. (2011) Regulation of angiogenesis by a non-canonical Wnt-Flt1 pathway in myeloid cells.

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14.

Miyoshi H et. al. (2012) Wnt5a potentiates TGF-β signaling to promote colonic crypt regeneration after tissue injury.

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15.

Florian MC et. al. (2013) A canonical to non-canonical Wnt signalling switch in haematopoietic stem-cell ageing.

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16.

Kuss P et. al. (2014) Regulation of cell polarity in the cartilage growth plate and perichondrium of metacarpal elements by HOXD13 and WNT5A.

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17.

Roifman M et. al. (2015) De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype.

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18.

Miyamoto DT et. al. (2015) RNA-Seq of single prostate CTCs implicates noncanonical Wnt signaling in antiandrogen resistance.

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