Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Kinesin-like Protein KIF11

Das KIF11-Gen kodiert ein Motorprotein, welches in die Spindeldynamik eingebunden ist. Mutationen verursachen das autosomal dominante Mikrocephalie-Lymphödem-Chorioretinopathie-Syndrom.

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:

Mikrocephalie-Lymphödem-Chorioretinopathie-Syndrom
KIF11

Referenzen:

1.

Justice MJ et al. (1992) A molecular genetic linkage map of mouse chromosome 18 reveals extensive linkage conservation with human chromosomes 5 and 18.

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2.

Tihy F et. al. (1992) Localization of the human kinesin-related gene to band 10q24 by fluorescence in situ hybridization.

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3.

Stewart RJ et. al. (1991) Identification and partial characterization of six members of the kinesin superfamily in Drosophila.

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4.

Blangy A et. al. (1995) Phosphorylation by p34cdc2 regulates spindle association of human Eg5, a kinesin-related motor essential for bipolar spindle formation in vivo.

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5.

Lawrence CJ et. al. (2004) A standardized kinesin nomenclature.

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6.

Kapitein LC et. al. (2005) The bipolar mitotic kinesin Eg5 moves on both microtubules that it crosslinks.

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7.

Vasudevan PC et. al. (2005) Microcephaly-lymphoedema-chorioretinal dysplasia: three cases to delineate the facial phenotype and review of the literature.

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8.

Chauvière M et. al. (2008) Disruption of the mitotic kinesin Eg5 gene (Knsl1) results in early embryonic lethality.

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9.

Bartoli KM et. al. (2011) Kinesin molecular motor Eg5 functions during polypeptide synthesis.

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10.

Ostergaard P et. al. (2012) Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.

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11.

Mirzaa GM et. al. (2014) Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature.

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12.

Robitaille JM et. al. (2014) Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations.

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