Kinesin-like protein KIF11
The KIF11 gene encodes a motor protein involved in spindle dynamics. Mutations cause autosomal dominant microcephaly-lymphedema-chorioretinopathy syndrome.
Genetests:
Related Diseases:
References:
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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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Ostergaard P et al. (2012) Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.
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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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4. |
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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5. |
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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6. |
Tihy F et al. (1992) Localization of the human kinesin-related gene to band 10q24 by fluorescence in situ hybridization.
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7. |
Stewart RJ et al. (1991) Identification and partial characterization of six members of the kinesin superfamily in Drosophila.
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8. |
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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9. |
Lawrence CJ et al. (2004) A standardized kinesin nomenclature.
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10. |
Kapitein LC et al. (2005) The bipolar mitotic kinesin Eg5 moves on both microtubules that it crosslinks.
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11. |
Chauvière M et al. (2008) Disruption of the mitotic kinesin Eg5 gene (Knsl1) results in early embryonic lethality.
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12. |
Bartoli KM et al. (2011) Kinesin molecular motor Eg5 functions during polypeptide synthesis.
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13. |
NCBI article
NCBI 3832
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14. |
OMIM.ORG article
Omim 148760
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15. |
Orphanet article
Orphanet ID 292401
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16. |
Wikipedia article
Wikipedia EN (Kinesin_family_member_11)
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Update: Aug. 14, 2020