Cover Image

Clinical and genetic characterization of REEP6-associated retinopathy in a Japanese cohort.

Fuente: PubMed

Saved in:

Bibliographic Details
Main Authors:	Tsuboi, Takeru, Mizobuchi, Kei, Yoshitake, Kazutoshi, Kuniyoshi, Kazuki, Kominami, Taro, Ueno, Shinji, Nishiguchi, Koji M, Kusaka, Shunji, Iwata, Takeshi, Hayashi, Takaaki, Nakano, Tadashi
Format:	Artículo científico
Language:	en
Published:	Japanese journal of ophthalmology 2026
Subjects:	Humans Female Male Retrospective Studies Japan Tomography, Optical Coherence Pedigree Adult Extracellular Matrix Proteins DNA Visual Acuity Phenotype Mutation DNA Mutational Analysis Middle Aged Child Young Adult Electroretinography Exome Sequencing Adolescent Retinal Dystrophies Fluorescein Angiography Fundus Oculi East Asian People
Online Access:	Acceder al recurso
Tags:	Add Tag No Tags, Be the first to tag this record!

Similar Items

A splice-site variant in the () gene identified in a symptomatic carrier woman.
by: Domoto, Aya, et al.
Published: (2026)

Clinical features and molecular mechanisms of RP1L1 variants causing occult macular dystrophy.
by: Pan, Yang, et al.
Published: (2025)

A transient mutational burst occurs during yeast colony development.
by: Agier, Nicolas, et al.
Published: (2025)

Tissue specific per base pair resolution exome and genome mutation susceptibilities
by: Schmalohr, Corinna, et al.
Published: (2025)

Prevalence of germline mutations of MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer families from Spain
by: Caldes, T, et al.
Published: (2002)

The negligible mutagenic effects of norfloxacin on the genome of the fission yeast ATCC-16979.
by: Lin, Tongtong, et al.
Published: (2025)

Identification of Cold Shock Gene Loci in Sinorhizobium meliloti by Using a luxAB Reporter Transposon
by: O'connell Kevin P., Gustafson Ann M., Deane Lehmann M. and Thomashow Michael F
Published: (2000)

Characterization of four novel BRCA2 large genomic rearrangements in Spanish breast/ovarian cancer families: review of the literature, and reevaluation of the genetic mechanisms involved in their origin
by: Ruiz de Garibay, G, et al.
Published: (2012)

Mutational features of chromids and chromosomes in provide new insights into the evolution of secondary replicons.
by: Jiang, Wanyue, et al.
Published: (2025)

Ophthalmology: Current and Future Developments: Volume 1 - Diagnostic Atlas of Retinal Diseases
Published: (2023)

Ophthalmology: Current and Future Developments: Volume 2 - Diagnostic Atlas of Retinal Diseases
Published: (2023)

Ophthalmology: Current and Future Developments: Volume 3 - Diagnostic Atlas of Retinal Diseases
Published: (2023)

Caracterización molecular de la región no codificadora del DNA mitocóndrico en Caretta caretta y Chelonia mydas del suroeste de Cuba: Una perspectiva regional
by: Ruiz U., Ariel, et al.
Published: (2008)

Modeling DNA Evolution in Nucleus-Free and Nucleated Systems Using a 100,000-Run Simulation with Advanced Statistical Analyses(Estimated Calculation Simulation )
by: Reza Hashemi
Published: (2025)

Excess of non-synonymous mutations and structural variations in mitogenomes of freshwater snails in the genus .
by: Kawabata, Himeka, et al.
Published: (2025)

E-Commerce-Sales-Analysis: E-Commerce Sales Analysis Dashboard
by: Sultan
Published: (2025)

Genome‐Wide Cross‐Trait Analysis Dissects the Shared Genetic Architecture Between Type 2 Diabetes Mellitus and Metabolic Dysfunction–Associated Steatotic Liver Disease
by: Zijun Zhu, et al.
Published: (2026)

Novel Variants in the SLC16A2 Gene Associated With Allan–Herndon–Dudley Syndrome in China
by: Wei Li, et al.
Published: (2026)

Biallelic Recessive Mutations in TLE6 and NLRP5 Cause Female Infertility Characterized by Human Early Embryonic Arrest
by: Ruiqi Li, et al.
Published: (2024)

Novel ABCG5 and ABCG8 Variants in Sitosterolemia: Insights Into Haemolysis, Calcium Dysregulation and Therapeutic Challenges
by: Prashant Warang, et al.
Published: (2026)

Epithelial Cell–Specific Prognostic Signature (FTH1, RIT1, WASL, NDRG2, KIFC3) Stratifies Cervical Cancer Patients and Correlates With Immune Infiltration
by: Xuegu Wang, et al.
Published: (2026)

Detection of Pathogenic Intronic Variants for COL4A5 Gene in X‐Linked Alport Syndrome: Developing a Novel Methodology
by: Yixiao Li, et al.
Published: (2025)

Detection of Rare Thalassemia Variants Using Accurate Circular Consensus Long‐Read Sequencing
by: Xiaoqiang Zhou, et al.
Published: (2026)

Treatability of the KMT2-Associated Neurodevelopmental Disorders Using Antisense Oligonucleotide-Based Treatments
by: Bianca Zardetto, et al.
Published: (2024)

Spectrum of F8 Gene Variants in Malaysian Patients With Severe Hemophilia A: Discovery of 15 Novel Variants
by: Abdullah Aziz Nursaedah, et al.
Published: (2026)

Homozygous HOXC13 Variant Causes Pure Hair and Nail Ectodermal Dysplasia via Reduction in Protein Stability
by: Virginia Clowes, et al.
Published: (2024)

Single‐Cell and Spatial Transcriptomics Explore Purine Metabolism–Related Prognostic Risk Model and Tumor Immune Microenvironment Modulation in Ovarian Cancer
by: Yinglei Liu, et al.
Published: (2025)

Construction of a Diagnostic Model and Drug Prediction for Postischemic Stroke Cognitive Impairment Based on Machine Learning Screening of Lactate Metabolism– and Pyroptosis‐Related Genes
by: Shulong Ge, et al.
Published: (2026)

High Occurrence of a Missense Variant (c.471C>A) in the FGF23 Gene Related to Hyperostosis–Hyperphosphatemia Syndrome With a Possible Founder Effect
by: Maryam Sedghi, et al.
Published: (2025)

A Single‐Cell Multiomics Pipeline Maps YBX1 as a Functional Biomarker for Immune Evasion and Therapeutic Resistance in Prostate Adenocarcinoma
by: Changcheng Luo, et al.
Published: (2026)

In silico Analysis of CHD4 Mutations Reveals Domain‐Specific Impacts on Cardiovascular Disorders Among Patients With Rare Diseases
by: Apolonia Novillo, et al.
Published: (2026)

Analyses of ATP7B mRNA in Nasopharyngeal Swab Samples Increase Yields of Wilson Disease Molecular Genetic Diagnostics
by: Lenka Steiner Mrázová, et al.
Published: (2026)

Management of Paediatric Cancers Associated With Bloom Syndrome
by: Camille Pacaud, et al.
Published: (2025)

CHD8 Variant and Rett Syndrome: Overlapping Phenotypes, Molecular Convergence, and Expanding the Genetic Spectrum
by: Elaine Zhang, et al.
Published: (2025)

Metabolic Reprogramming in Colorectal Cancer: The Impact of Fatty Acid Metabolism
by: Zirui Zhuang, et al.
Published: (2025)

Integrated Bulk and Single‐Cell Transcriptomic Analysis Reveals Xenobiotic Metabolism Genes Drive Progression From Liver Cirrhosis to Hepatocellular Carcinoma
by: Hao Xu, et al.
Published: (2026)

Polycystic Ovary Syndrome May Be Associated With a Novel Mitochondrial tRNAAsp Mutation
by: Yu Ding, et al.
Published: (2025)

Multiomics Characterization of GCSH + Macrophages Reveals Therapeutic Vulnerabilities and Immune–Metabolic Crosstalk in Triple‐Negative Breast Cancer
by: Jiahao Ge, et al.
Published: (2026)

Genome Sequencing of Rare Disease Patients Through the Korean Regional Rare Disease Diagnostic Support Program
by: Rin Khang, et al.
Published: (2025)

Ubiquitination‐Associated Ductal–Fibroblast Crosstalk Shapes Tumor Progression and Prognosis in Pancreatic Ductal Adenocarcinoma
by: Yiping Fu, et al.
Published: (2026)