Associated Papers
Heterozygous variants c.781G>A and c.1066dup of serine protease 56 cause familial nanophthalmos by impairing serine-type endopeptidase activity.
Wu W et al.
The British Journal of Ophthalmology, 2023
Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort.
Prasov L et al.
Scientific Reports, 2020
Müller glia-derived PRSS56 is required to sustain ocular axial growth and prevent refractive error.
Paylakhi S et al.
Plos Genetics, 2018
Posterior microphthalmia and nanophthalmia in Tunisia caused by a founder c.1059_1066insC mutation of the PRSS56 gene.
Said MB et al.
Gene, 2013
Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice.
Nair KS et al.
Nature Genetics, 2011
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