Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

High-resolution photoreceptor imaging analysis of patients with autosomal dominant retinitis pigmentosa (adRP) caused by HK1 mutation.

Ophthalmic genetics - 1 Dec 2020

Kubota Daiki, Matsumoto Kaori, Hayashi Mika, Oishi Noriko, Gocho Kiyoko, Yamaki Kunihiko, Kobayakawa Shinichiro, Igarashi Tsutomu, Takahashi Hiroshi, Kameya Shuhei

Abstract excerpt

PURPOSE: The hexokinase 1 (HK1) gene encodes one of the four human hexokinases that play essential roles in glucose metabolism. Recently, several cases of E847K mutation in the HK1 gene were reported to cause inherited retinal dystrophy. The purpose of this study was to identify the phenotypical characteristics of patients with a recurrent E847K mutation in the HK1 gene. METHODS: Three generations of one family...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Fluorescein Angiography
Share to Genes, Dominant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hexokinase

Share to Night Blindness

Share to Pedigree

Share to Phenotype

Share to Retinal Cone Photoreceptor Cells

Share to Retinitis Pigmentosa

Source

Identifiers

PMID: 32814480
DOI: 10.1080/13816810.2020.1810284

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

High-resolution photoreceptor imaging analysis of patients with autosomal dominant retinitis pigmentosa (adRP) caused by HK1 mutation.PMID 32814480Read ↗

Autosomal dominant pigmented paravenous retinochoroidal atrophy associated with pathogenic variant in HK1 gene.Semantic proximity Read ↗

A missense mutation in HK1 leads to autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

The phenotypic variability of HK1-associated retinal dystrophySemantic proximity Read ↗

A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa.Semantic proximity Read ↗

Genotypic and Phenotypic Characterization of Hexokinase 1 p.Glu847Lys Variant Causing Autosomal Dominant Pericentral Retinitis Pigmentosa.Semantic proximity Read ↗

Whole-exome sequencing revealed HKDC1 as a candidate gene associated with autosomal-recessive retinitis pigmentosa.Semantic proximity Read ↗

Identification of a Novel Gene on 10q22.1 Causing Autosomal Dominant Retinitis Pigmentosa (adRP).Semantic proximity Read ↗

Ocular Phenotype of a Family with FAM161A-associated Retinal Degeneration.Semantic proximity Read ↗

Novel disease-causing variant in RDH12 presenting with autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

A novel phenotype in a family with autosomal dominant retinal dystrophy due to c.1430A > G in retinoid isomerohydrolase (RPE65) and c.37C > T in bestrophin 1 (BEST1).Semantic proximity Read ↗

CDHR1-Associated Retinal Dystrophies: Expanding the Clinical and Genetic Spectrum with a Hungarian Cohort.Semantic proximity Read ↗

Hexokinase 1 and retinitis pigmentosa: insights into the retina and the molecule.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.