Noriko Oishi
Overview
Explore the profile of Noriko Oishi including associated specialties, affiliations and a list of published articles.
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Articles
6
Citations
26
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Recent Articles
1.
Mizobuchi K, Hayashi T, Oishi N, Kubota D, Kameya S, Higasa K, et al.
J Clin Med
. 2021 Jun;
10(11).
PMID: 34073704
Background: Little is known about genotype-phenotype correlations of -associated retinal dystrophies in the Japanese population. We aimed to investigate the genetic spectrum of variants and provide a detailed description of...
2.
Oishi N, Kubota D, Nakamoto K, Takeda Y, Hayashi M, Gocho K, et al.
Ophthalmic Genet
. 2021 Feb;
42(3):304-311.
PMID: 33541179
: Maternally inherited diabetes and deafness (MIDD) is caused by a heteroplasmic m.3243A>G mutation in the mitochondrial DNA. The main ocular feature in MIDD is macular dystrophy. The purpose of...
3.
Kubota D, Matsumoto K, Hayashi M, Oishi N, Gocho K, Yamaki K, et al.
Ophthalmic Genet
. 2020 Aug;
41(6):629-638.
PMID: 32814480
Purpose: The hexokinase 1 () gene encodes one of the four human hexokinases that play essential roles in glucose metabolism. Recently, several cases of E847K mutation in the gene were...
4.
Takeda Y, Kubota D, Oishi N, Maruyama K, Gocho K, Yamaki K, et al.
J Nippon Med Sch
. 2020 Feb;
87(2):92-99.
PMID: 32009068
Background: The GUCY2D (guanylate cyclase 2D) gene encodes a photoreceptor guanylate cyclase (GC-E), that is predominantly expressed in the cone outer segments. Mutations in the GUCY2D lead to severe retinal...
5.
Kubota D, Oishi N, Gocho K, Kikuchi S, Yamaki K, Igarashi T, et al.
Ophthalmic Genet
. 2019 Nov;
40(5):480-487.
PMID: 31696758
: The gene encodes the alpha-subunit of transducin in rod photoreceptors and is an important part of the phototransduction cascade. Defects in are very rare but have been identified in...
6.
Kondo H, Oku K, Katagiri S, Hayashi T, Nakano T, Iwata A, et al.
Hum Genome Var
. 2019 Jan;
6:3.
PMID: 30652005
X-linked congenital retinoschisis (XLRS) is an inherited retinal disorder characterized by reduced central vision and schisis of the macula and peripheral retina. XLRS is caused by mutations in the gene....