Involvement of Oxidative and Endoplasmic Reticulum Stress in <i>RDH12</i>-Related Retinopathies

by Hajrah Sarkar, Maria Toms, Mariya Moosajee
Published 2021-08-01

Generation of two human control iPS cell lines (UCLi016-A and UCLi017-A) from healthy donors with no known ocular conditions

by Cécile Méjécase, Philippa Harding, Hajrah Sarkar, Jonathan Eintracht, Dulce Lima Cunha, Lyes Toualbi, Mariya Moosajee
Published 2020-12-01

Generation of two human iPSC lines from patients with autosomal dominant retinitis pigmentosa (UCLi014-A) and autosomal recessive Leber congenital amaurosis (UCLi015-A), associated...

by Hajrah Sarkar, Cécile Méjécase, Philippa Harding, Jonathan Eintracht, Lyes Toualbi, Dulce Lima Cunha, Mariya Moosajee
Published 2021-07-01

Generation of human iPSC line (UCLi013-A) from a patient with microphthalmia and aniridia, carrying a heterozygous missense mutation c.372C>A p.(Asn124Lys) in PAX6

by Philippa Harding, Dulce Lima Cunha, Cécile Méjécase, Jonathan Eintracht, Lyes Toualbi, Hajrah Sarkar, Mariya Moosajee
Published 2021-03-01

Novel Heterozygous Deletion in Retinol Dehydrogenase 12 (RDH12) Causes Familial Autosomal Dominant Retinitis Pigmentosa

by Hajrah Sarkar, Adam M. Dubis, Adam M. Dubis, Susan Downes, Mariya Moosajee, Mariya Moosajee, Mariya Moosajee
Published 2020-04-01