Syndromic Microphthalmia 9: Role of rapid genome sequencing and novel mutations in STRA6 gene

Saini, Ashish; Almasarweh, Saleem; Acosta, Stephanie; Jayakar, Parul; Janvier, Michelin; Wong, Terence C.; Salyakina, Daria; Sasaki, Jun

doi:10.1016/j.ppedcard.2021.101443

Cited by 1 publication

(2 citation statements)

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“…STRA6 gene is located on chromosome 15q24.1 and encodes transmembrane receptor [181], with a molecular mass of 74 kDa [182]. It catalyses the release of retinol from RBP4 and facilitates its translocation across the RPE cell membrane to the cytosol [41,181].…”

Section: Retinopathy Due To Pathogenic Variants Stra6mentioning

confidence: 99%

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The Role of Vitamin A in Retinal Diseases

Sajovic

Meglič

Glavač

et al. 2022

IJMS

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Vitamin A is an essential fat-soluble vitamin that occurs in various chemical forms. It is essential for several physiological processes. Either hyper- or hypovitaminosis can be harmful. One of the most important vitamin A functions is its involvement in visual phototransduction, where it serves as the crucial part of photopigment, the first molecule in the process of transforming photons of light into electrical signals. In this process, large quantities of vitamin A in the form of 11-cis-retinal are being isomerized to all-trans-retinal and then quickly recycled back to 11-cis-retinal. Complex machinery of transporters and enzymes is involved in this process (i.e., the visual cycle). Any fault in the machinery may not only reduce the efficiency of visual detection but also cause the accumulation of toxic chemicals in the retina. This review provides a comprehensive overview of diseases that are directly or indirectly connected with vitamin A pathways in the retina. It includes the pathophysiological background and clinical presentation of each disease and summarizes the already existing therapeutic and prospective interventions.

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Section: Retinopathy Due To Pathogenic Variants Stra6mentioning

confidence: 99%

“…STRA6 gene pathogenic variants are associated with Matthew-Wood syndrome, which is in eyes presented with anophthalmia [47,181,[183][184][185][186].…”

Section: Retinopathy Due To Pathogenic Variants Stra6mentioning

confidence: 99%