Frontiers in Genetics

Original Research

Published on 21 Oct 2025

In vitro cell model to dilucidate the underlying molecular mechanism associated with ophthalmic manifestation of congenital disorders of glycosylation: studying an ALG2-CDG patient

Marisa Angelica Cubilla
Ana Clara Sclausero
Mariano Bisbal
Carla Gabriela Asteggiano

Frontiers in Genetics

doi 10.3389/fgene.2025.1678103

1,641 views

Case Report

Accepted on 20 Oct 2025

Retinitis Pigmentosa and Sensorineural Deafness Associated with a De Novo DHX16 Mutation: Case Report

Lei Wang
Jiyong Gao
Meng Sun
Li Fan
Shuhua Wang
Xue Li
Shuangyu Gu
Bingjuan Han

Frontiers in Genetics

512 views

Original Research

Published on 20 Oct 2025

DLL1 haploinsufficiency in prenatal brain anomalies: a retrospective analysis of 6q terminal deletions

Tingting Ge
Xiaojuan Lin
Xinyuan Tian
Xiaoyu Song
Bingbo Zhou
Ling Hui
Xiaozhuan Wang
Zhiqiang Zhang
Chuan Zhang

Frontiers in Genetics

doi 10.3389/fgene.2025.1640775

1,322 views

Original Research

Published on 17 Oct 2025

Genetic and clinical landscape of Duchenne muscular dystrophy in Guatemala: insights from a national study

M. Orozco
E. Kestler
G. Ramirez
G. Silva
J. Cabrera
S. De la Vega
A. Al Khleifat

Frontiers in Genetics

doi 10.3389/fgene.2025.1595423

1,926 views
1 citation

Case Report

Published on 17 Oct 2025

Case Report: von Hippel-Lindau (VHL) disease: a young female presenting with multiple organ tumors

Jingyuan Li
Yun Ti
Xiao Yang
Keqiang Yan
Tongshuai Chen
Tao Guo
Qin Hu
Cheng Zhang
Peili Bu

Frontiers in Genetics

doi 10.3389/fgene.2025.1676039

1,856 views

Original Research

Published on 17 Oct 2025

Genome-wide identification of selection signals in fat-tailed and thin-tailed sheep populations

Lei Gao
Yiyuan Zhang
Bin Zhang
Weifeng Peng
Yucheng Liu
Zhenliang Zhang
Jingjing Wang
Pengcheng Wan
Hua Yang
Zongsheng Zhao

Frontiers in Genetics

doi 10.3389/fgene.2025.1581914

1,665 views

Original Research

Published on 17 Oct 2025

Association of APOA5 rs2075291 and CIDEB rs2144492 polymorphisms with hypertriglyceridemia in individuals with traditional Chinese medicine dampness syndrome: a case-control study

Na Liu
Hongli Zeng
Xiangsheng Cai
Shuo Yang
Xinyan Chen
Guli Jiang
Jiamin Yuan
Jianxiong Cai
Hui Zhou

Frontiers in Genetics

doi 10.3389/fgene.2025.1654501

1,296 views

Original Research

Published on 16 Oct 2025

A novel deletion upstream of POU3F4 in a Chinese family with X-linked deafness 2 and a literature review

Yanting Yang
Shengwen Huang
Yao Liu
Dan Mu
Ting Bai
Xiaosha Jing
Lingling Xing
Hongqian Liu

Frontiers in Genetics

doi 10.3389/fgene.2025.1641999

1,731 views

Original Research

Published on 16 Oct 2025

CGSDA: inferring snoRNA-disease associations via ChebNetII and GatedGCN

Yongfu Zou
Yusong Lu
Shanghui Lu
Zhanliang Wei
Le Li
Shuilin Liao
Ting Zeng
Yi Zhang
Rui Miao

Frontiers in Genetics

doi 10.3389/fgene.2025.1684484

1,319 views

Original Research

Published on 16 Oct 2025

A novel dinucleotide variant at 5′ splice sites in the F8 gene causes exon 19 skipping in a Chinese family with hemophilia A

Xunzhao Zhou
Qi Yang
Qiuli Chen
Sheng Yi
Shengkai Wei
Jingsi Luo
Dahua Meng
Zailong Qin
Shujie Zhang

Frontiers in Genetics

doi 10.3389/fgene.2025.1686184

1,469 views

Original Research

Published on 16 Oct 2025

Whole exome sequencing identifies concurrent LDLR and ABCG8 mutations in a Saudi family with familial hypercholesterolemia and Sitosterolaemia

Abdulrahman Hummadi
Dhayf Alrahman Mutawwam
Babajan Banaganapalli
Fai Alsubhi
Naji J. Aljohani
Ali J. Alhagawy
Turki Algohani
Ibrahim Fallatah
Mohammed Y. Daghriry
Rawan K. Alharbi

Frontiers in Genetics

doi 10.3389/fgene.2025.1679594

2,465 views

Original Research

Published on 16 Oct 2025

Transcriptome profiling of hypothalamus-pituitary-ovary axis provides insights into egg-laying interval differences between european meat pigeons and shiqi pigeons

Xinlei Wang
Liyu Yang
Ruiting Li
Liheng Zhang
Zhanbing Han
Runzhi Wang
Qiang Li
Dingding Zhang
Mingjun Yang
Pengkun Yang

Frontiers in Genetics

doi 10.3389/fgene.2025.1676255

1,791 views

Original Research

Published on 16 Oct 2025

Identification and validation of selenium metabolism-related genes in lung adenocarcinoma prognosis using bioinformatics analysis

Yun Chen
Ping Li
Yang Wang
Shuai Shen
Ni Chen
Hao Peng
Zheyuan Xu

Frontiers in Genetics

doi 10.3389/fgene.2025.1655262

1,646 views

Brief Research Report

Published on 15 Oct 2025

A rare subtype of lynch syndrome familial with co-mutation of EpCAM c.344T>C, MSH2 c.2744A>G, PMS2 c.1408C>T and APC c.5465T>A, case report and literature review

Guiyu Lu
Ting Pan
Cuidong Deng
Xiaoqian Wan
Zihan Wang
Tengyue Hu
Xianshuo Cheng
Jian Dong

Frontiers in Genetics

doi 10.3389/fgene.2025.1667899

2,068 views

Original Research

Published on 15 Oct 2025

Clinical and genetic analysis of MOCOS gene-related hypouricemia

Huifang Peng
Ping Tu
Qiaobo Ma
Jinpeng Tang
Wannv Xiao
Xinyu Hu
Yingyu Zhang
Hongwei Jiang

Frontiers in Genetics

doi 10.3389/fgene.2025.1636032

1,672 views

Original Research

Published on 15 Oct 2025

Epitranscriptome-wide profiling identifies RNA editing events regulated by ADAR1 that are associated with DNA repair mechanisms in human TK6 cells

Akito Yoshida
Yuqian Song
Hotaru Takaine
Sujin Song
Nonoka Konishi
Yu-Hsien Hwang-Fu
Zachary Johnson
Kiyoe Ura
Akira Sassa

Frontiers in Genetics

doi 10.3389/fgene.2025.1663827

13,973 views
1 citation

Review

Published on 14 Oct 2025

CircZFR functions in cancer from molecular networks to precision therapy

Jinniang Nan
Min Li
Xinru Li
Yuqing Guo
Ziye Cai
Zekang Deng
Chengyi Zhan
Jiacheng Li
Shuying Liu
Ziyi Chen

Frontiers in Genetics

doi 10.3389/fgene.2025.1694220

1,962 views

Original Research

Published on 14 Oct 2025

Identification of key genes for heart failure in dilated cardiomyopathy in different populations

Yue Yu
Chentian Xue
Dong Ji
Wei Sheng
Xiang Gao
Xize Wu
Chengyan Wu

Frontiers in Genetics

doi 10.3389/fgene.2025.1618390

2,227 views

Case Report

Published on 14 Oct 2025

Ataxia, intentional tremor and hypotonia syndrome caused by a novel POU4F1 gene mutation: a case report

Qisheng Hu
Feng Zhu
Wanfen Wang
Yihang Xu
Haiyan Ren
Yanni Zheng
Yiqing Jiang
Shaofa Ke

Frontiers in Genetics

doi 10.3389/fgene.2025.1702803

1,534 views

Review

Published on 14 Oct 2025

Gene-LLMs: a comprehensive survey of transformer-based genomic language models for regulatory and clinical genomics

P. Balakrishnan
A. Anny Leema
V. Dhivya Shree
C. Mohammad Saad
A. Mohan Babu

Frontiers in Genetics

doi 10.3389/fgene.2025.1634882

4,496 views

Correction

Published on 13 Oct 2025

Correction: DeepRNAac4C: a hybrid deep learning framework for RNA N4-acetylcytidine site prediction

Guohua Huang
Runjuan Xiao
Chunying Peng
Jinyun Jiang
Weihong Chen

Frontiers in Genetics

doi 10.3389/fgene.2025.1704319

820 views

Original Research

Published on 13 Oct 2025

Transcriptomic profiling reveals macrophage gene signatures associated with lactylation-related pathways in chronic obstructive pulmonary disease

Hui Guo
Weilin Sun
Fang Zhao
Yang Yu
Xiaoyun Zhao
Daqiang Sun

Frontiers in Genetics

doi 10.3389/fgene.2025.1653163

3,564 views

Editorial

Published on 13 Oct 2025

Editorial: The neurogenetics of brain wiring

Ting Feng
Wenfeng Chen
Aja McDonagh
Zhenxing Liu

Frontiers in Genetics

doi 10.3389/fgene.2025.1699487

1,904 views

Case Report

Published on 13 Oct 2025

Thoracic aortic aneurysm combined with intracranial vascular abnormalities caused by dual mutations in MYLK and FBN2: a case report

Maorong Cai
Yang Liu
Zhaodi Liao
Yiping Wu
Jiantong Jiao

Frontiers in Genetics

doi 10.3389/fgene.2025.1672342

1,370 views

963 Publications

volumes

In vitro cell model to dilucidate the underlying molecular mechanism associated with ophthalmic manifestation of congenital disorders of glycosylation: studying an ALG2-CDG patient

Retinitis Pigmentosa and Sensorineural Deafness Associated with a De Novo DHX16 Mutation: Case Report

DLL1 haploinsufficiency in prenatal brain anomalies: a retrospective analysis of 6q terminal deletions

Genetic and clinical landscape of Duchenne muscular dystrophy in Guatemala: insights from a national study

Case Report: von Hippel-Lindau (VHL) disease: a young female presenting with multiple organ tumors

Genome-wide identification of selection signals in fat-tailed and thin-tailed sheep populations

Association of APOA5 rs2075291 and CIDEB rs2144492 polymorphisms with hypertriglyceridemia in individuals with traditional Chinese medicine dampness syndrome: a case-control study

A novel deletion upstream of POU3F4 in a Chinese family with X-linked deafness 2 and a literature review

CGSDA: inferring snoRNA-disease associations via ChebNetII and GatedGCN

A novel dinucleotide variant at 5′ splice sites in the F8 gene causes exon 19 skipping in a Chinese family with hemophilia A

Whole exome sequencing identifies concurrent LDLR and ABCG8 mutations in a Saudi family with familial hypercholesterolemia and Sitosterolaemia

Transcriptome profiling of hypothalamus-pituitary-ovary axis provides insights into egg-laying interval differences between european meat pigeons and shiqi pigeons

Identification and validation of selenium metabolism-related genes in lung adenocarcinoma prognosis using bioinformatics analysis

A rare subtype of lynch syndrome familial with co-mutation of EpCAM c.344T>C, MSH2 c.2744A>G, PMS2 c.1408C>T and APC c.5465T>A, case report and literature review

Clinical and genetic analysis of MOCOS gene-related hypouricemia

Epitranscriptome-wide profiling identifies RNA editing events regulated by ADAR1 that are associated with DNA repair mechanisms in human TK6 cells

CircZFR functions in cancer from molecular networks to precision therapy

Identification of key genes for heart failure in dilated cardiomyopathy in different populations

Ataxia, intentional tremor and hypotonia syndrome caused by a novel POU4F1 gene mutation: a case report

Gene-LLMs: a comprehensive survey of transformer-based genomic language models for regulatory and clinical genomics

Correction: DeepRNAac4C: a hybrid deep learning framework for RNA N4-acetylcytidine site prediction

Transcriptomic profiling reveals macrophage gene signatures associated with lactylation-related pathways in chronic obstructive pulmonary disease

Editorial: The neurogenetics of brain wiring

Thoracic aortic aneurysm combined with intracranial vascular abnormalities caused by dual mutations in MYLK and FBN2: a case report