Masakazu Akahori

Tokyo, Japan

Last Updated: 09/26/2026

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Found 19 publications

Germline pathogenic variants detected by GenMineTOP: insight from a nationwide tumor/normal paired comprehensive genomic profiling test, in Japan.

Germline pathogenic variants detected by GenMineTOP: insight from a nationwide tumor/normal paired comprehensive genomic profiling test, in Japan.

Journal: Journal of human genetics

Published: April 05, 2025

The Expression of Rab8, Ezrin, Radixin and Moesin in the Ciliary Body of Cynomolgus Monkeys.

The Expression of Rab8, Ezrin, Radixin and Moesin in the Ciliary Body of Cynomolgus Monkeys.

Journal: Juntendo Iji zasshi = Juntendo medical journal

Published: November 29, 2021

Novel RP1L1 Variants and Genotype-Photoreceptor Microstructural Phenotype Associations in Cohort of Japanese Patients With Occult Macular Dystrophy.

Novel RP1L1 Variants and Genotype-Photoreceptor Microstructural Phenotype Associations in Cohort of Japanese Patients With Occult Macular Dystrophy.

Journal: Investigative ophthalmology & visual science

Published: September 14, 2016

Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation (p.E591K).

Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation (p.E591K).

Journal: Ophthalmic genetics

Published: January 22, 2015

RPE65 Mutations in Two Japanese Families with Leber Congenital Amaurosis.

RPE65 Mutations in Two Japanese Families with Leber Congenital Amaurosis.

Journal: Ophthalmic genetics

Published: December 16, 2014

Overexpression of HtrA1 and exposure to mainstream cigarette smoke leads to choroidal neovascularization and subretinal deposits in aged mice.

Overexpression of HtrA1 and exposure to mainstream cigarette smoke leads to choroidal neovascularization and subretinal deposits in aged mice.

Journal: Investigative ophthalmology & visual science

Published: September 11, 2014

Novel C8orf37 Mutations in Patients with Early-onset Retinal Dystrophy, Macular Atrophy, Cataracts, and High Myopia.

Novel C8orf37 Mutations in Patients with Early-onset Retinal Dystrophy, Macular Atrophy, Cataracts, and High Myopia.

Journal: Ophthalmic genetics

Published: August 13, 2014

RHO Mutations (p.W126L and p.A346P) in Two Japanese Families with Autosomal Dominant Retinitis Pigmentosa.

RHO Mutations (p.W126L and p.A346P) in Two Japanese Families with Autosomal Dominant Retinitis Pigmentosa.

Journal: Journal of ophthalmology

Published: July 26, 2014

Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa.

Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa.

Journal: PloS one

Published: March 04, 2014

Lack of association of LOXL1 gene variants in Japanese patients with central retinal vein occlusion without clinically detectable pseudoexfoliation material deposits.

Lack of association of LOXL1 gene variants in Japanese patients with central retinal vein occlusion without clinically detectable pseudoexfoliation material deposits.

Journal: Acta ophthalmologica

Published: February 21, 2014

Autosomal recessive cone-rod dystrophy associated with compound heterozygous mutations in the EYS gene.

Autosomal recessive cone-rod dystrophy associated with compound heterozygous mutations in the EYS gene.

Journal: Documenta ophthalmologica. Advances in ophthalmology

Published: January 27, 2014

Retinal angiomatous proliferation associated with risk alleles of ARMS2/HTRA1 gene polymorphisms in Japanese patients.

Retinal angiomatous proliferation associated with risk alleles of ARMS2/HTRA1 gene polymorphisms in Japanese patients.

Journal: Clinical ophthalmology (Auckland, N.Z.)

Published: January 10, 2014

Showing 1-12 of 19

Last Updated: 09/26/2026