Publications by authors named "Matthieu Duot"

Article Synopsis
  • Cataract is a major cause of blindness in older adults and is influenced by genetic factors, with a heritability estimate of 58%.
  • The study utilized a transcriptome-wide association study (TWAS) to discover and prioritize novel genes associated with cataract by analyzing gene expression from 54 different tissues.
  • The researchers found 99 genes linked to cataract, with 20 being newly identified, and noted that gastrointestinal tissues showed a significant connection to these gene associations.
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Cataract, the opacification of the lens, is the leading cause of blindness worldwide. Although effective, cataract surgery is costly and can lead to complications. Toward identifying alternate treatments, it is imperative to develop organoid models relevant for lens studies and drug screening.

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The ocular lens, along with the cornea, focuses light on the retina to generate sharp images. Opacification of the lens, or cataract, is the leading cause of blindness worldwide. Presently, the best approach for cataract treatment is to surgically remove the diseased lens and replace it with an artificial implant.

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Defects in the development of the ocular lens can cause congenital cataracts. To understand the various etiologies of congenital cataracts, it is important to characterize the genes linked to this developmental defect and to define their downstream pathways that are relevant to lens biology and pathology. Deficiency or alteration of several RNA-binding proteins, including the conserved RBP Celf1 (CUGBP Elav-like family member 1), has been described to cause lens defects and early onset cataracts in animal models and/or humans.

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