Cargando…

Family-based exome sequencing identifies candidate genes related to keratoconus in Chinese families

Background: Keratoconus (KC) is a complex corneal disorder with a strong genetic component. The present study aimed to identify candidate genes related to KC in Chinese families. Methods: Family-based exome sequencing was performed in ten patients suffering from KC who belong to five families with t...

Descripción completa

Detalles Bibliográficos
Autores principales:	Xu, Liyan, Yang, Kaili, Yin, Shanshan, Gu, Yuwei, Fan, Qi, Wang, Yawen, Zhao, Dongqing, Ren, Shengwei
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9478549/ https://www.ncbi.nlm.nih.gov/pubmed/36118869 http://dx.doi.org/10.3389/fgene.2022.988620

Ejemplares similares

Mitochondrial DNA heteroplasmy analysis in keratoconus patients from China
por: Xu, Liyan, et al.
Publicado: (2023)

Heritability of Corneal Parameters in Nuclear Families With Keratoconus
por: Wang, Yawen, et al.
Publicado: (2022)

Whole mitochondrial genome analysis in Chinese patients with keratoconus
por: Xu, Liyan, et al.
Publicado: (2021)

A Hospital-Based Study on the Prevalence of Keratoconus in First-Degree Relatives of Patients with Keratoconus in Central China
por: Wang, Yawen, et al.
Publicado: (2022)

Accuracy of new Corvis ST parameters for detecting subclinical and clinical keratoconus eyes in a Chinese population
por: Ren, Shengwei, et al.
Publicado: (2021)

A high body mass index strengthens the association between the time of eye rubbing and keratoconus in a Chinese population: a case control study
por: Ren, Shengwei, et al.
Publicado: (2023)

Assessment of Visual Quality in Eyes with Forme Fruste Keratoconus and Mild and Moderate Keratoconus Based on Optical Quality Analysis System II Parameters
por: Ren, Zhonghao, et al.
Publicado: (2020)

Repeatability and comparison of new Corvis ST parameters in normal and keratoconus eyes
por: Yang, Kaili, et al.
Publicado: (2019)

Distribution of pediatric keratoconus by different age and gender groups
por: Yang, Kaili, et al.
Publicado: (2022)

Evaluation of new Corvis ST parameters in normal, Post-LASIK, Post-LASIK keratectasia and keratoconus eyes
por: Yang, Kaili, et al.
Publicado: (2020)

A hospital-based study on clinical data, demographic data and visual function of keratoconus patients in Central China
por: Yang, Kaili, et al.
Publicado: (2021)

Independent and interactive effects of eye rubbing and atopy on keratoconus
por: Yang, Kaili, et al.
Publicado: (2022)

Association between Corneal Stiffness Parameter at the First Applanation and Keratoconus Severity
por: Yang, Kaili, et al.
Publicado: (2020)

Whole-exome sequencing identified a novel mutation of AURKC in a Chinese family with macrozoospermia
por: Hua, Juan, et al.
Publicado: (2018)

Whole-Exome Sequencing of Discordant Monozygotic Twin Families for Identification of Candidate Genes for Microtia-Atresia
por: Fan, Xinmiao, et al.
Publicado: (2020)

Whole-Exome Sequencing Identified Genes Responsible for Thoracic Aortic Aneurysms and Dissections in three Chinese Families
por: Guo, Renle, et al.
Publicado: (2022)

Identification of genetic variants in five chinese families with keratoconus: Pathogenicity analysis and characteristics of parental corneal topography
por: Cheng, Wan-Yu, et al.
Publicado: (2022)

Case Report: Exome Sequencing Identified Variants in Three Candidate Genes From Two Families With Hearing Loss, Onychodystrophy, and Epilepsy
por: Li, Yuan, et al.
Publicado: (2021)

Whole-Exome Sequencing of 24 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Keratoconus
por: González-Atienza, Carmen, et al.
Publicado: (2023)

Whole-Exome Sequencing Identified CFTR Variants in Two Consanguineous Families in China
por: Yang, Binyi, et al.
Publicado: (2021)

Whole-exome identifies germline variants in families with obstructive sleep apnea syndrome
por: de Azevedo, Pedro Guimarães, et al.
Publicado: (2023)

Family-based whole-exome sequencing identifies novel loss-of-function mutations of FBN1 for Marfan syndrome
por: Pu, Zhening, et al.
Publicado: (2018)

Using linkage studies combined with whole‐exome sequencing to identify novel candidate genes for familial colorectal cancer
por: Toma, Claudio, et al.
Publicado: (2019)

Proband Whole-Exome Sequencing Identified Genes Responsible for Autosomal Recessive Non-Syndromic Hearing Loss in 33 Chinese Nuclear Families
por: Sang, Shushan, et al.
Publicado: (2019)

A Bibliometric Analysis of 100 Most-Cited Articles on Corneal Cross-Linking
por: Yang, Kaili, et al.
Publicado: (2022)

Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer
por: Glentis, Stavros, et al.
Publicado: (2019)

Identification of a novel candidate HSD3B2 gene variant for familial hypospadias by whole-exome sequencing
por: Almaramhy, Hamdi Hameed, et al.
Publicado: (2023)

Familial Whole Exome Sequencing Study of 30 Families With Early-Onset High Myopia
por: Yang, Entuan, et al.
Publicado: (2023)

Exome Sequence Analysis of 14 Families With High Myopia
por: Kloss, Bethany A., et al.
Publicado: (2017)

Whole exome sequencing highlights variants in association with Keratoconus in Jordanian families
por: Froukh, Tawfiq, et al.
Publicado: (2020)

Clinical and genetic analysis VSX1 variants among families with keratoconus in northwest China
por: Zhang, Jinjin, et al.
Publicado: (2023)

Candidate genes and sequence variants for susceptibility to mycobacterial infection identified by whole-exome sequencing
por: Varzari, Alexander, et al.
Publicado: (2022)

Rare Variants in Novel Candidate Genes Associated With Nonsyndromic Patent Ductus Arteriosus Identified With Whole-Exome Sequencing
por: Gao, Ying, et al.
Publicado: (2022)

Whole Exome Sequencing Identifies a Novel Predisposing Gene, MAPKAP1, for Familial Mixed Mood Disorder
por: Yang, Chunxia, et al.
Publicado: (2019)

A Novel Loss-of-Function Mutation in the NPRL3 Gene Identified in Chinese Familial Focal Epilepsy with Variable Foci
por: Li, Youzhi, et al.
Publicado: (2021)

Further evaluation of differential expression of keratoconus candidate genes in human corneas
por: Karolak, Justyna A., et al.
Publicado: (2020)

Whole-Exome Sequencing Identified Novel CLMP Mutations in a Family With Congenital Short Bowel Syndrome Presenting Differently in Two Probands
por: Chuang, Yao-Hung, et al.
Publicado: (2020)

Analysis of a Chinese Pedigree With Familial Chylomicronemia Syndrome Reveals Two Novel LPL Mutations by Whole-Exome Sequencing
por: Liu, Ying, et al.
Publicado: (2020)

Accuracy of tomographic and biomechanical parameters in detecting unilateral post-LASIK keratoectasia and fellow eyes
por: Yang, Kaili, et al.
Publicado: (2023)

Exome sequencing identifies a novel mutation of the GDI1 gene in a Chinese non-syndromic X-linked intellectual disability family
por: Duan, Yongheng, et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_879ehnh02pgubsh05iubhfh1tk