Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Wachstums- und Differenzierungsfaktor 6

Das GDF6-Gen kodiert einen Liganden des TGF-beta. Mutationen verursachen autosomal rezessive Lebersche kongenitale Amaurose Typ 17.

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:

Lebersche kongenitale Amaurose 17
GDF6

Referenzen:

1.

Chang SC et. al. (1994) Cartilage-derived morphogenetic proteins. New members of the transforming growth factor-beta superfamily predominantly expressed in long bones during human embryonic development.

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2.

Storm EE et. al. (1994) Limb alterations in brachypodism mice due to mutations in a new member of the TGF beta-superfamily.

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3.

Clarke RA et. al. (1995) Familial Klippel-Feil syndrome and paracentric inversion inv(8)(q22.2q23.3).

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4.

Wolfman NM et. al. (1997) Ectopic induction of tendon and ligament in rats by growth and differentiation factors 5, 6, and 7, members of the TGF-beta gene family.

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5.

Settle SH et. al. (2003) Multiple joint and skeletal patterning defects caused by single and double mutations in the mouse Gdf6 and Gdf5 genes.

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6.

Hanel ML et. al. (2006) Eye and neural defects associated with loss of GDF6.

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7.

Asai-Coakwell M et. al. (2007) GDF6, a novel locus for a spectrum of ocular developmental anomalies.

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8.

Tassabehji M et. al. (2008) Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome.

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9.

Asai-Coakwell M et. al. (2009) Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes.

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10.

Ye M et. al. (2010) Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies.

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11.

Zhang L et. al. (2012) High temperature requirement factor A1 (HTRA1) gene regulates angiogenesis through transforming growth factor-β family member growth differentiation factor 6.

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12.

Asai-Coakwell M et. al. (2013) Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies.

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13.

Banka S et. al. (2015) Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis.

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