Amna Z. Shah
Bath Street
London, ENG, United Kingdom
London, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 10 publications
Mutations in SPATA13/ASEF2 cause primary angle closure glaucoma.
Journal: PLoS genetics
Published: September 02, 2019
Neonatal brain-directed gene therapy rescues a mouse model of neurodegenerative CLN6 Batten disease.
Neonatal brain-directed gene therapy rescues a mouse model of neurodegenerative CLN6 Batten disease.
Journal: Human molecular genetics
Published: June 12, 2019
EYS Is a Protein Associated with the Ciliary Axoneme in Rods and Cones.
Journal: PloS one
Published: September 01, 2016
First insights into the expression of VAX2 in humans and its localization in the adult primate retina.
Journal: Experimental eye research
Published: March 03, 2016
Transcriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa.
Journal: Scientific reports
Published: June 29, 2015
A Study into the Evolutionary Divergence of the Core Promoter Elements of PRPF31 and TFPT.
Journal: Journal of molecular and genetic medicine : an international journal of biomedical research
Published: August 01, 2013
Dominant PRPF31 mutations are hypostatic to a recessive CNOT3 polymorphism in retinitis pigmentosa: a novel phenomenon of "linked trans-acting epistasis".
Journal: Annals of human genetics
Published: February 25, 2013
CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance.
Journal: PLoS genetics
Published: July 06, 2012
Expression of PRPF31 and TFPT: regulation in health and retinal disease.
Journal: Human molecular genetics
Published: June 23, 2012
Showing 1-10 of 10
Last Updated: 09/26/2026