Frontiers in Genetics

Original Research

Published on 15 Jul 2024

Exome sequencing confirms the clinical diagnosis of both joubert syndrome and klinefelter syndrome with keratoconus in a han Chinese family

in Genetics of Common and Rare Diseases

Xinhe Fang
Meijiao Ma
Weining Rong
Yuan-Yuan Lian
Xueli Wu
Yongying Gao
Hui-Ping Li
Xunlun Sheng

Frontiers in Genetics

doi 10.3389/fgene.2024.1417584

1,978 views

Original Research

Published on 15 Jul 2024

Screening and the analysis of genotypic and phenotypic characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Fujian province, China

in Applied Genetic Epidemiology

Jinfu Zhou
Yinglin Zeng
Jianping Tang
Shihong Chen
Guilin Li
Xiaolong Qiu
Peiran Zhao
Ting Huang
Jinying Luo
Na Lin

Frontiers in Genetics

doi 10.3389/fgene.2024.1422214

1,180 views
1 citation

Case Report

Published on 12 Jul 2024

Case report: A novel compound heterozygous variant in the COL4A3 gene was identified in a patient with autosomal recessive Alport syndrome

in Genetics of Common and Rare Diseases

Sha Chen
Yufeng Zhang
Jinjin He
Dingwei Yang

Frontiers in Genetics

doi 10.3389/fgene.2024.1426806

1,258 views

Original Research

Published on 12 Jul 2024

Stromal cell-expressed malignant gene patterns contribute to the progression of squamous cell carcinomas across different sites

in Cancer Genetics and Oncogenomics

Kaiyan Qi
Guangqi Li
Yuanjun Jiang
Xuexin Tan
Qiao Qiao

Frontiers in Genetics

doi 10.3389/fgene.2024.1342306

1,447 views

Original Research

Published on 12 Jul 2024

A cross-tissue transcriptome-wide association study identifies new susceptibility genes for frailty

in Genetics of Aging

Daoyi Lin
Shuyan Wu
Wangyu Li
Peng Ye
Xuan Pan
Ting Zheng
Fei Gao

Frontiers in Genetics

doi 10.3389/fgene.2024.1404456

2,104 views
2 citations

Original Research

Published on 12 Jul 2024

Identifying selection signatures for immune response and resilience to Aleutian disease in mink using genotype data

in Livestock Genomics

Guoyu Hu
Duy Ngoc Do
Ghader Manafiazar
Alyson A. Kelvin
Mehdi Sargolzaei
Graham Plastow
Zhiquan Wang
Pourya Davoudi
Younes Miar

Frontiers in Genetics

doi 10.3389/fgene.2024.1370891

1,280 views

Original Research

Published on 11 Jul 2024

Mendelian randomization of stroke risk after total hip and knee replacements

in Applied Genetic Epidemiology

Liang Pang
Zhihui Zheng
Pingping Su
Zhouhengte Xu
Yirui Chen
Zhicheng Liao
Pengcheng Jia
Xiuling Zhang
Cunxian Lv

Frontiers in Genetics

doi 10.3389/fgene.2024.1435124

1,756 views
2 citations

Original Research

Published on 11 Jul 2024

Genome-wide identification and drought stress-induced expression analysis of the NHX gene family in potato

in Genomics of Plants and the Phytoecosystem

Ji Yihong
Liu Zhen
Liu Chang
Shao Ziying
Zhang Ning
Suo Meiqing
Liu Yuhui
Wang Lei

Frontiers in Genetics

doi 10.3389/fgene.2024.1396375

1,554 views
3 citations

Case Report

Published on 11 Jul 2024

Case report: Two novel compound heterozygous variant of SLC12A3 gene in a gitelman syndrome family and literature review

in Genetics of Common and Rare Diseases

Xiaochen Ji
Nan Zhao
Haixia Liu
Yutong Wu
Lichao Liu

Frontiers in Genetics

doi 10.3389/fgene.2024.1391015

1,383 views

Original Research

Published on 11 Jul 2024

Methylation of SSTR4 promoter region in multiple mental health disorders

in Behavioral and Psychiatric Genetics

Rongrong Zhao
Huihui Shi
Yanqiu Wang
Shuaiyu Zheng
Yahui Xu

Frontiers in Genetics

doi 10.3389/fgene.2024.1431769

939 views

Original Research

Published on 11 Jul 2024

Cross-species single-cell landscapes identify the pathogenic gene characteristics of inherited retinal diseases

in Computational Genomics

Hualei Hu
Fei Liu
Pan Gao
Yuwen Huang
Danna Jia
Jamas Reilly
Xiang Chen
Yunqiao Han
Kui Sun
Jiong Luo

Frontiers in Genetics

doi 10.3389/fgene.2024.1409016

2,150 views

Original Research

Published on 10 Jul 2024

Novel pathogenic variants of DNAH5 associated with clinical and genetic spectra of primary ciliary dyskinesia in an Arab population

in Genetics of Common and Rare Diseases

Dalal A. Al-Mutairi
Basel H. Alsabah
Petra Pennekamp
Heymut Omran

Frontiers in Genetics

doi 10.3389/fgene.2024.1396797

1,721 views

Original Research

Published on 10 Jul 2024

The association between IGF-1 levels and four types of osteoarthritis: a bidirectional and two-step mendelian randomization study

in Applied Genetic Epidemiology

Xiaohan Pan
Minghuang Cheng
Dongxu Li
Zeyu Liu
Qi Yao
Wei Jiang
Xiaojun Zhang
Jie Hao

Frontiers in Genetics

doi 10.3389/fgene.2024.1366138

1,642 views

Original Research

Published on 10 Jul 2024

Identification and functional characteristics of a novel splicing heterozygote variant of COL2A1 associated with Stickler syndrome type I

in Genetics of Common and Rare Diseases

Yujing Gong
Weijian Zhu
Mianmian Zhu
Dan Chen
Sunke Wu
Sisi Hu
Yi Luo
Yiyi Jiang
Ting Zhu
Dan Wang

Frontiers in Genetics

doi 10.3389/fgene.2024.1308737

1,111 views

Original Research

Published on 10 Jul 2024

Relationships between systemic sclerosis and atherosclerosis: screening for mitochondria-related biomarkers

in Computational Genomics

Fei Wang
Xiao Yan Lyu
Yi Ming Qin
Mei Juan Xie

Frontiers in Genetics

doi 10.3389/fgene.2024.1375331

2,241 views

Original Research

Published on 10 Jul 2024

Genetically predicted 1091 blood metabolites and 309 metabolite ratios in relation to risk of type 2 diabetes: a Mendelian randomization study

in Applied Genetic Epidemiology

Jixin Li
Wenru Wang
Fengzhao Liu
Linjie Qiu
Yan Ren
Meijie Li
Wenjie Li
Feng Gao
Jin Zhang

Frontiers in Genetics

doi 10.3389/fgene.2024.1356696

2,009 views

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Articles

Exome sequencing confirms the clinical diagnosis of both joubert syndrome and klinefelter syndrome with keratoconus in a han Chinese family

Screening and the analysis of genotypic and phenotypic characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Fujian province, China

Case report: A novel compound heterozygous variant in the COL4A3 gene was identified in a patient with autosomal recessive Alport syndrome

Stromal cell-expressed malignant gene patterns contribute to the progression of squamous cell carcinomas across different sites

A cross-tissue transcriptome-wide association study identifies new susceptibility genes for frailty

Identifying selection signatures for immune response and resilience to Aleutian disease in mink using genotype data

Mendelian randomization of stroke risk after total hip and knee replacements

Genome-wide identification and drought stress-induced expression analysis of the NHX gene family in potato

Case report: Two novel compound heterozygous variant of SLC12A3 gene in a gitelman syndrome family and literature review

Methylation of SSTR4 promoter region in multiple mental health disorders

Cross-species single-cell landscapes identify the pathogenic gene characteristics of inherited retinal diseases

Novel pathogenic variants of DNAH5 associated with clinical and genetic spectra of primary ciliary dyskinesia in an Arab population

The association between IGF-1 levels and four types of osteoarthritis: a bidirectional and two-step mendelian randomization study

Identification and functional characteristics of a novel splicing heterozygote variant of COL2A1 associated with Stickler syndrome type I

Relationships between systemic sclerosis and atherosclerosis: screening for mitochondria-related biomarkers

Genetically predicted 1091 blood metabolites and 309 metabolite ratios in relation to risk of type 2 diabetes: a Mendelian randomization study