Article

Insights into <i>KIF11</i> pathogenesis in Microcephaly-Lymphedema-Chorioretinopathy syndrome: a lymphatic perspective

2023-11-04

Abstract excerpt

Pathogenic variants in kinesin KIF11 underlie microcephaly-lymphedema-chorioretinopathy (MLC) syndrome. Although well known for regulating spindle dynamics ensuring successful cell division, the association of KIF11 (encoding EG5) with development of the lymphatic system, and how KIF11 pathogenic variants lead to lymphatic dysfunction and lymphedema remain unknown. Using patient-derived lymphoblastoid cells, w...

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Literature Corpus work: 1e595a69-3658-5a34-a6e7-9171247df7f5
DOI: 10.1101/2023.11.02.23297090

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