Cargando…

Evaluation of the Genetic Variation Spectrum Related to Corneal Dystrophy in a Large Cohort

AIMS: To characterize the genetic landscape and mutation spectrum of patients with corneal dystrophies (CDs) in a large Han ethnic Chinese Cohort with inherited eye diseases (IEDs). METHODS: Retrospective study. A large IED cohort was recruited in this study, including 69 clinically diagnosed CD pat...

Descripción completa

Detalles Bibliográficos
Autores principales:	Li, Wei, Qu, Ning, Li, Jian-Kang, Li, Yu-Xin, Han, Dong-Ming, Chen, Yi-Xi, Tian, Le, Shao, Kang, Yang, Wen, Wang, Zhuo-Shi, Chen, Xuan, Jin, Xiao-Ying, Wang, Zi-Wei, Liang, Chen, Qian, Wei-Ping, Wang, Lu-Sheng, He, Wei
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2021
Materias:	Cell and Developmental Biology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8012530/ https://www.ncbi.nlm.nih.gov/pubmed/33816482 http://dx.doi.org/10.3389/fcell.2021.632946

Ejemplares similares

Genotype Profile of Global EYS-Associated Inherited Retinal Dystrophy and Clinical Findings in a Large Chinese Cohort
por: Xu, Ke, et al.
Publicado: (2021)

Genotype-Phenotype Analysis and Mutation Spectrum in a Cohort of Chinese Patients With Congenital Nystagmus
por: Wang, Xiao-Fang, et al.
Publicado: (2021)

Current Pharmacological Strategies for Duchenne Muscular Dystrophy
por: Yao, Shanshan, et al.
Publicado: (2021)

OGP46 Induces Differentiation of Acute Myeloid Leukemia Cells via Different Optimal Signaling Pathways
por: Zhao, Min, et al.
Publicado: (2021)

The Dark Side of Pyroptosis of Diffuse Large B-Cell Lymphoma in B-Cell Non-Hodgkin Lymphoma: Mediating the Specific Inflammatory Microenvironment
por: Wang, Wei, et al.
Publicado: (2021)

GABAergic System Dysfunction in Autism Spectrum Disorders
por: Zhao, Haisheng, et al.
Publicado: (2022)

Association of Angiogenesis Gene Expression With Cancer Prognosis and Immunotherapy Efficacy
por: Li, Xin-yu, et al.
Publicado: (2022)

Lung Cancer Cells-Controlled Dkk-1 Production in Brain Metastatic Cascade Drive Microglia to Acquire a Pro-tumorigenic Phenotype
por: Gan, Dong-Xue, et al.
Publicado: (2020)

Clinical Significance of Serum Oxidative Stress Markers to Assess Disease Activity and Severity in Patients With Non-Segmental Vitiligo
por: Li, Shuli, et al.
Publicado: (2021)

Overexpression of ABCG2 Confers Resistance to MLN7243, a Ubiquitin-Activating Enzyme (UAE) Inhibitor
por: Wu, Zhuo-Xun, et al.
Publicado: (2021)

Novel Cell Culture Paradigm Prolongs Mouse Corneal Epithelial Cell Proliferative Activity in vitro and in vivo
por: An, Xiaoya, et al.
Publicado: (2021)

Inhibition of Postn Rescues Myogenesis Defects in Myotonic Dystrophy Type 1 Myoblast Model
por: Shen, Xiaopeng, et al.
Publicado: (2021)

Novel Corneal Protein Biomarker Candidates Reveal Iron Metabolic Disturbance in High Myopia Eyes
por: Chen, Jingyi, et al.
Publicado: (2021)

Identification and Validation of a Novel Prognosis Prediction Model in Adrenocortical Carcinoma by Integrative Bioinformatics Analysis, Statistics, and Machine Learning
por: Yan, Xin, et al.
Publicado: (2021)

Long Non-coding RNA MEG3 Promotes Pyroptosis in Testicular Ischemia-Reperfusion Injury by Targeting MiR-29a to Modulate PTEN Expression
por: Ning, Jin-zhuo, et al.
Publicado: (2021)

Effectiveness of reducing corneal astigmatism after combined high-frequency LDV Z8 femtosecond laser-assisted phacoemulsification and arcuate keratotomy
por: Lin, Hung-Yuan, et al.
Publicado: (2022)

Exosomal miR-130b-3p Promotes Progression and Tubular Formation Through Targeting PTEN in Oral Squamous Cell Carcinoma
por: Yan, Wei, et al.
Publicado: (2021)

KNNCNV: A K-Nearest Neighbor Based Method for Detection of Copy Number Variations Using NGS Data
por: Xie, Kun, et al.
Publicado: (2021)

Peroxisomal Membrane Contact Sites in Mammalian Cells
por: Chen, Chao, et al.
Publicado: (2020)

Essential Role of CFAP53 in Sperm Flagellum Biogenesis
por: Wu, Bingbing, et al.
Publicado: (2021)

Chitosan Oligosaccharides Regulate the Occurrence and Development of Enteritis in a Human Gut-On-a-Chip
por: Jing, Bolin, et al.
Publicado: (2022)

Using a smartphone app in the measurement of posture-related pupil center shift on centration during corneal refractive surgery
por: Cheng, Wenbo, et al.
Publicado: (2023)

Raman Spectrum of Follicular Fluid: A Potential Biomarker for Oocyte Developmental Competence in Polycystic Ovary Syndrome
por: Huang, Xin, et al.
Publicado: (2021)

Establishment and Characterization of a Topotecan Resistant Non-small Cell Lung Cancer NCI-H460/TPT10 Cell Line
por: Lei, Zi-Ning, et al.
Publicado: (2020)

The Discovery of Novel BCR-ABL Tyrosine Kinase Inhibitors Using a Pharmacophore Modeling and Virtual Screening Approach
por: Huang, Ting-Ting, et al.
Publicado: (2021)

Role of Autophagy in the Maintenance of Stemness in Adult Stem Cells: A Disease-Relevant Mechanism of Action
por: Chen, Shanshan, et al.
Publicado: (2021)

Different Aberrant Changes of mGluR5 and Its Downstream Signaling Pathways in the Scrapie-Infected Cell Line and the Brains of Scrapie-Infected Experimental Rodents
por: Hu, Chao, et al.
Publicado: (2022)

The predictive effect of immune therapy and chemotherapy under T cell-related gene prognostic index for Gastric cancer
por: Chen, Jingyao, et al.
Publicado: (2023)

Identification of Novel Mutations in CDC20: Expanding the Mutational Spectrum for Female Infertility
por: Zhao, Lin, et al.
Publicado: (2021)

Cabozantinib Reverses Topotecan Resistance in Human Non-Small Cell Lung Cancer NCI-H460/TPT10 Cell Line and Tumor Xenograft Model
por: Lei, Zi-Ning, et al.
Publicado: (2021)

The Advancing Roles of Exosomes in Breast Cancer
por: Wang, Xi, et al.
Publicado: (2021)

Phenotype–genotype correlations in patients with TGFBI-linked corneal dystrophies in Taiwan
por: Hou, Yu-Chih, et al.
Publicado: (2012)

VAMP3 and SNAP23 as Potential Targets for Preventing the Disturbed Flow-Accelerated Thrombus Formation
por: Zhu, Juan-Juan, et al.
Publicado: (2020)

Role of miR-182 in cardiovascular and cerebrovascular diseases
por: Pei, Gaiqin, et al.
Publicado: (2023)

E-cadherin Interacts With Posttranslationally-Modified AGO2 to Enhance miRISC Activity
por: Li, Jie-Ning, et al.
Publicado: (2021)

Extracellular Vesicles in Tumors: A Potential Mediator of Bone Metastasis
por: Li, Shenglong, et al.
Publicado: (2021)

Vaginal Probiotic Lactobacillus crispatus Seems to Inhibit Sperm Activity and Subsequently Reduces Pregnancies in Rat
por: Li, Ping, et al.
Publicado: (2021)

Characterization of a Novel Glutamine Synthetase From Trichinella spiralis and Its Participation in Larval Acid Resistance, Molting, and Development
por: Zhuo, Tong Xu, et al.
Publicado: (2021)

Different Phenotypes in Pseudodominant Inherited Retinal Dystrophies
por: Habibi, Imen, et al.
Publicado: (2021)

Updating the Genetic Landscape of Inherited Retinal Dystrophies
por: García Bohórquez, Belén, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_tavlouktlhav5ctee5q51utkk3