Frontiers in Genetics

Case Report

Published on 05 Nov 2025

Case Report: identification of a novel 9.159-kb deletion in a Chinese α-thalassemia family using single molecule real-time technology sequencing

Shulin Wu
Zonghui Feng
Fuxiang Jiang
Min Zhao
Peng Jiang
Gang Xiao
Xian Zhang

Frontiers in Genetics

doi 10.3389/fgene.2025.1669814

174 views

Original Research

Published on 05 Nov 2025

Downregulation of aquaporin 3 promotes hyperosmolarity-induced apoptosis of nucleus pulposus cells through PI3K/Akt/mTOR pathway suppression

Yuan Sang
Huiqing Zhao
Jiajun Wu
Ting Zhang
Wenbin Xu
Kaihua Liu
Chang Liu
Ping Li
Yichun Xu
Jianying Zhang

Frontiers in Genetics

doi 10.3389/fgene.2025.1665899

216 views

Original Research

Accepted on 04 Nov 2025

Distribution characteristics of MTHFR C677T gene polymorphism in Han Nationality and Women of Childbearing Age in 8 regions of Shaanxi Province and a comparative analysis with other regions in China

Ting Chen
Fei Song
Jinyao Sun
Jing Yi
Wenbing Ma

Frontiers in Genetics

Correction

Accepted on 04 Nov 2025

Correction: Drought adaptation index (DAI) based on BLUP as a selection approach for drought-resilient switchgrass germplasm

Shiva Om Makaju
Hari Bahadur Chhetri
Chanaka Abeyratne
Mirko Pavicic
Hari Prasad Poudel
Jazib Ali Irfan
Anita Giabardo
Katrien M. Devos
Daniel Jacobson
Ali M Missaoui

Frontiers in Genetics

Review

Accepted on 04 Nov 2025

Single-Cell Sequencing in Molecular Diagnostics: Transformative Yet Untapped Potential

Duaa El Sheikh
Nour Farchoukh
Reema El-Hassan
Sara Al-Marzooqi
Waad Rashid Alateeq
Haissam Abou-Saleh
Amal Al-Haidose
Hatem Zayed
Atiyeh M Abdallah

Frontiers in Genetics

Methods

Accepted on 04 Nov 2025

OFGPMA: Optimal Frequency Graph Representation Learning for pseudogene and miRNA Association Prediction

Yongbin Zeng
Lixiang Xiong
Yungui Luo

Frontiers in Genetics

Original Research

Accepted on 04 Nov 2025

Benign Mosaic Chromosomal Structural Variants Across Generations: Evidence for a Developmental Correction Mechanism from Clinical and Computational Models

Jiayu Ruan
Qinghao Song
Yue Hu
Xiaodan Liu
Suping Li
Jianjun Zhu
Li Yang

Frontiers in Genetics

Original Research

Accepted on 03 Nov 2025

BAG3-related myofibrillar myopathy: focus on its cardiac involvement

Elise Daire
Elena Panaioli
Cyril Gitiaux
Catherine Gardin
Victor Waldmann
Damien Bonnet
Karim Wahbi
Diala Khraiche

Frontiers in Genetics

Original Research

Accepted on 03 Nov 2025

Phenotype and genetic variation analysis of primary congenital lymphedema caused by FLT4 gene mutation in fetus

Shanshan Zhai
Limin Yuan
Jing Li
Ling Liu
Lulu Hu
Yanjie Ban
Xuewen Yang
Jie Yang
Xuezhe Ouyang
Nana Huang

Frontiers in Genetics

Original Research

Accepted on 03 Nov 2025

FusDRM-m5C: a hybrid model for accurate prediction of 5-Methylcytosine modification sites based on feature fusion and attention mechanism

Hui Huang
Jianhua Jia
Fenglin Zhou

Frontiers in Genetics

Case Report

Accepted on 03 Nov 2025

Case report: mild BRIC-like cholestasis despite a gross USP53 deletion—novel findings and literature review

Ekaterina Nuzhnaya
Tatiana Cherevatova
Zhanna Markova
Ekaterina Lotnik
Aleksandra Shagiazdanova
Ekaterina Filimonova
Olga Parshina
Anastasiia A. Buianova
Anastasia Bobreshova
Andrey Marakhonov

Frontiers in Genetics

Review

Accepted on 03 Nov 2025

Bioinformatics identification of key genes and therapeutic targets for exercise intervention in polycystic ovary syndrome

Xiaodie Yang
Hong Yang
Dongyi Shen
Qiang Zhang
Chan Zhu

Frontiers in Genetics

Original Research

Accepted on 03 Nov 2025

LRRC56 Deficiency Cause Motile Ciliopathies in Humans and Mice

Xiao-Hui Xie
Heng Gu
Junlin Yang
Zhuang-zhuang Yuan
Kele Qin
Zhi-Ping Tan

Frontiers in Genetics

Original Research

Published on 03 Nov 2025

Family-based NGS panel testing of cardiopathies and arrhythmic syndromes

Hana Hrazderova
Jana Petrkova
Anna Crhova
Klara Herkommerova
Kvetoslava Mahutova
Julie Nejezchlebova
Lenka Petrkova
Lubos Boucek
Arpad Boday
Spiros Tavandzis

Frontiers in Genetics

doi 10.3389/fgene.2025.1677311

560 views

Case Report

Accepted on 31 Oct 2025

Case Report: developmental Delay and Intellectual Disability Linked to a Maternally Inherited Derivative Chromosome 3 from a t(3;8) Translocation

Andrés León
Alex S. Aguirre
Anna Lindstrand
Marlene Ek
Vanessa Romero

Frontiers in Genetics

110 views

Correction

Accepted on 31 Oct 2025

Correction: Integrative Machine Learning and Mendelian Randomization Identify Causal Laboratory Biomarkers for Coronary Artery Lesions in Kawasaki Disease: A Prospective Study

Hancao Yang
Meng Wu
Keqing Liang
Yi Li
Ran Yang
Beibei Yuan
Ming Wu
Jin Xu

Frontiers in Genetics

16,342 Publications

Volume 16 - 2025

Case Report: identification of a novel 9.159-kb deletion in a Chinese α-thalassemia family using single molecule real-time technology sequencing

Downregulation of aquaporin 3 promotes hyperosmolarity-induced apoptosis of nucleus pulposus cells through PI3K/Akt/mTOR pathway suppression

Distribution characteristics of MTHFR C677T gene polymorphism in Han Nationality and Women of Childbearing Age in 8 regions of Shaanxi Province and a comparative analysis with other regions in China

Correction: Drought adaptation index (DAI) based on BLUP as a selection approach for drought-resilient switchgrass germplasm

Single-Cell Sequencing in Molecular Diagnostics: Transformative Yet Untapped Potential

OFGPMA: Optimal Frequency Graph Representation Learning for pseudogene and miRNA Association Prediction

Benign Mosaic Chromosomal Structural Variants Across Generations: Evidence for a Developmental Correction Mechanism from Clinical and Computational Models

BAG3-related myofibrillar myopathy: focus on its cardiac involvement

Phenotype and genetic variation analysis of primary congenital lymphedema caused by FLT4 gene mutation in fetus

FusDRM-m5C: a hybrid model for accurate prediction of 5-Methylcytosine modification sites based on feature fusion and attention mechanism

Case report: mild BRIC-like cholestasis despite a gross USP53 deletion—novel findings and literature review

Bioinformatics identification of key genes and therapeutic targets for exercise intervention in polycystic ovary syndrome

LRRC56 Deficiency Cause Motile Ciliopathies in Humans and Mice

Family-based NGS panel testing of cardiopathies and arrhythmic syndromes

Case Report: developmental Delay and Intellectual Disability Linked to a Maternally Inherited Derivative Chromosome 3 from a t(3;8) Translocation

Correction: Integrative Machine Learning and Mendelian Randomization Identify Causal Laboratory Biomarkers for Coronary Artery Lesions in Kawasaki Disease: A Prospective Study