Works in Frontiers in Genetics, 2025

Results: 401

Complete defect in PA-PLA<sub>1</sub>α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous LIPH variant study in a Chinese pedigree.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1591409

By:

Zhang, Xinyue;
Guo, Kexin;
Liu, Jiawei;
Yang, Xueting;
Zhang, Rui;
Wang, Rongrong;
Ma, Donglai;
Zhang, Xue

Publication type:

Article

Unveiling the molecular landscape of δ-thalassemia and δ-globin variants in southern China: novel mutations, gene spectrum, and implications for thalassemia diagnosis.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1584310

By:

Li, Youqiong;
Ye, Lihua;
Liang, Liang;
Zheng, Lihong;
Xiao, Yongjun;
Lao, Zhongchan;
Bai, Jinping;
He, Xi;
Fang, Qixun;
Qin, Ting

Publication type:

Article

Long-read sequencing reveals absence of 5mC in Ogataea parapolymorpha DL-1 genome and introduces telomere-to-telomere assembly.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1574332

By:

Eremin, Andrey;
Sergeev, Alexander;
Kopylov, Arthur;
Rodin, Vladimir;
Malyshev, Daniil;
Panova, Tatiana;
Polyakov, Igor;
Zvereva, Maria

Publication type:

Article

A novel synonymous variant in the NF1 gene disrupting splicing contributes to neurofibromatosis pathogenesis.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1572487

By:

Lin, Tao;
Chen, Zheyan;
Dong, Biwen;
Pan, Haojie;
Wang, Hai;
Zheng, Xianjue;
Chen, Kaixin;
Lai, Yanan;
Zhang, Chenhui;
Dong, Ye;
Xu, Zitong;
Lin, Menmen;
Xi, Xiujie;
Xia, Shuqi;
Wang, Yimin;
Wang, Wenhan;
Li, Xiaoqing;
Sun, Congcong;
Hu, Yanjun;
Xu, Fang

Publication type:

Article

Case report: Clinical and genetic characteristics of heterozygous CaSR variants in three Chinese females with familial hypocalciuric hypercalcemia type 1: a report of three cases.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1570141

By:

Zhang, Ruxuan;
Hu, Tingting;
Wang, Shuai;
Cheng, Yiping;
Luo, Dandan;
Zheng, Dongmei;
Zhou, Xinli

Publication type:

Article

Expression and clinical significance of FANCI gene in pan-cancer: a comprehensive analysis based on multi-omics data.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1542888

By:

Zhao, Yunzheng;
Li, Qingyu;
Li, Jiajun;
Cui, YiFeng;
Lu, Zhaoyang

Publication type:

Article

Nonmetastatic cell 1 gene polymorphisms are associated with the clinical progression and prognoses of patients with colorectal cancer.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1485855

By:

Liu, Yabin;
Bai, Tianliang;
Zhang, Zhenxi;
Xu, Yanjun;
Kong, Dexian

Publication type:

Article

Genetic dissection of yield and yield-related traits in mungbean based on QTL meta-analysis.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1600979

By:

Du, Binbin;
Wang, Qifei;
Gao, Song;
Yang, Fan;
Zhang, Lei;
Zhang, Xiao;
Huo, Dongao;
Wu, Jia;
Zhang, Xingen;
Li, Fang;
Lu, Baowei;
An, Fengxia

Publication type:

Article

Identification of candidate genes harboring pathogenic variants in congenital heart disease and laterality defects in Chinese population.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1582718

By:

Wang, Jinxin;
Chen, Weicheng;
Huang, Xianghui;
Gao, Han;
Feng, Zhiyu;
Tan, Chaozhong;
Zhuang, Quannan;
Gao, Yuan;
Min, Shaojie;
Lu, Yuquan;
Wu, Feizhen;
Qian, Maoxiang;
Yan, Weili;
Sheng, Wei;
Huang, Guoying

Publication type:

Article

Clinical features and genetic analysis of a family with t(5;9) (p15;p24) balanced translocation leading to Cri-du-chat syndrome in offspring.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1550937

By:

Zhao, Jing;
Chen, Ping;
Ren, Yijia;
Li, Shurong;
Zhang, Weiyi;
Li, Yan;
Wang, Fengyu

Publication type:

Article

Case Report: A prenatal case with sex discordance between non-invasive prenatal testing and fetal genetic testings due to maternal rare chromosome karyotype.

Published in:

2025

By:

Zhong, Guoxing;
Wu, Jiajia;
Zhong, Zeyan;
Chen, Dina;
Guan, Zhiyang;
Huang, Shaohui;
Chen, Jianhong

Publication type:

Case Study

RNA hybrid-capture next-generation sequencing has high sensitivity in identifying known and less characterized oncogenic and likely oncogenic NTRK fusions in a real-world standard-of-care setting.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1550706

By:

Wallen, Zachary D.;
Tierno, Marni;
Schnettler, Erica;
Roos, Alison;
Green, Michelle;
Amoah, Kobina;
Previs, Rebecca A.;
Hastings, Stephanie;
Pabla, Sarabjot;
Jensen, Taylor J.;
Caveney, Brian;
Eisenberg, Marcia;
Sathyan, Pratheesh;
Ramkissoon, Shakti H.;
Severson, Eric A.

Publication type:

Article

Chromosome-level draft genome assembly of Hypomesus nipponensis reveals transposable element expansion reshaping the genome structure.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1502681

By:

Zhu, Chenzhao;
Kuang, Youyi;
Li, Zhe;
Tang, Fujiang

Publication type:

Article

Impact of different genomic relationship matrix construction methods on the accuracy of genomic prediction in different species.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1576248

By:

Wang, Shiyi;
Wei, Yingjia;
Liu, Dengying;
Zhang, Xiangzhe;
Wang, Qishan;
Pan, Yuchun;
Ma, Peipei

Publication type:

Article

TCGADownloadHelper: simplifying TCGA data extraction and preprocessing.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1569290

By:

Baumann, Alexandra Anke;
Wolkenhauer, Olaf;
Wolfien, Markus

Publication type:

Article

Integrative genetic and epigenetic control of skeletal muscle fiber traits in agricultural animals.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1566553

By:

Chang, Xiaolong;
Ma, Junwu

Publication type:

Article

Validation of a comprehensive long-read sequencing platform for broad clinical genetic diagnosis.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1499456

By:

Sen, Siddhartha;
Handler, Hillary P.;
Victorsen, Alec;
Flaten, Zach;
Ellison, Aidan;
Knutson, Todd P.;
Munro, Sarah A.;
Martinez, Ryan J.;
Billington, Charles John;
Laffin, Jennifer J.;
Bray, Sarah;
Mroz, Pawel;
Yohe, Sophia;
Nelson, Andrew C.;
Bower, Matthew;
Thyagarajan, Bharat

Publication type:

Article

Radiomic features and tumor immune microenvironment associated with anaplastic lymphoma kinase-rearranged lung adenocarcinoma and their prognostic value.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1581937

By:

Han, Ying;
Feng, Wenya;
Li, Huaxin;
Wang, Hua;
Ye, Zhaoxiang

Publication type:

Article

Applying the algorithm for Proven and young in GWAS Reveals high polygenicity for key traits in Nellore cattle.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1549284

By:

Ogunbawo, Adebisi R.;
Hidalgo, Jorge;
Mulim, Henrique A.;
Carrara, Eula R.;
Ventura, Henrique T.;
Souza, Nadson O.;
Lourenco, Daniela;
Oliveira, Hinayah R.

Publication type:

Article

In vitro 3D modeling of colorectal cancer: the pivotal role of the extracellular matrix, stroma and immune modulation.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1545017

By:

Hanitrarimalala, Veroniaina;
Prgomet, Zdenka;
Hedhammar, My;
Tassidis, Helena;
Wingren, Anette Gjörloff

Publication type:

Article

Identification of potential crucial genes and mechanisms associated with metabolically unhealthy obesity based on the gene expression profile.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1540721

By:

Wang, Qingqing;
Wang, Silu;
Zhuang, Zhanyu;
Wu, Xueting;
Gao, Hongkun;
Zhang, Tianyi;
Zou, Guorong;
Ge, Xing;
Liu, Yapeng

Publication type:

Article

Development and validation of a polygenic risk score for height in a Greek cohort: Association with blood pressure measurements.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1538975

By:

Kalafati, Ioanna Panagiota;
Tsifintaris, Margaritis;
Dimitriou, Maria;
Grigoriou, Effimia;
Moulos, Panagiotis;
Dedoussis, George V.

Publication type:

Article

Relationship of VDR and VDBP gene polymorphisms with sepsis susceptibility and prognosis.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1590750

By:

Lian, Chan;
Ying, Kangtai;
Shao, Haiyan;
Gu, Haiting;
Mao, Wenwei

Publication type:

Article

High-precision lung cancer subtype diagnosis on imbalanced exosomal data via Exo-LCClassifier.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1583081

By:

Zhan, Siyu;
Yu, Hao;
Liu, Shuang;
Qin, Ke;
Guo, Lu

Publication type:

Article

Impact of nonsynonymous single nucleotide polymorphisms in PROCR gene on protein stability and thrombotic risk: a molecular dynamic approach.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1580993

By:

Abuagla, Hytham Ahmed;
Adam, Khalid Mohamed;
Elangeeb, Mohamed E.;
Ahmed, Elsadig Mohamed;
Ali, Elshazali W.;
Edris, Ali M.;
MohamedAhmed, Abubakr Ali Elamin;
Eltieb, Elmoiz Idris;
Khalid, Tarig Babikir Algak;
Elamin, Bahaeldin K.;
Osman, Hiba Mahgoub Ali;
Idris, Ebtehal Salih

Publication type:

Article

Genetic architecture of thermotolerance traits in beef cattle: a novel integration of SNP and breed-of-origin effects.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1576966

By:

Zayas, Gabriel A.;
Santos Rojas, Camila;
Rodriguez, Eduardo E.;
Hernandez, Aakilah S.;
Beard, Ashley M.;
Rafiq, Fahad;
Sarlo Davila, Kaitlyn M.;
Mateescu, Raluca G.

Publication type:

Article

Leveraging long-read sequencing technologies for pharmacogenomic testing: applications, analytical strategies, challenges, and future perspectives.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1435416

By:

Tafazoli, Alireza;
Hemmati, Mahboobeh;
Rafigh, Mahboobeh;
Alimardani, Maliheh;
Khaghani, Faeze;
Korostyński, Michał;
Karnes, Jason H.

Publication type:

Article

The identification of a blood circular RNA signature that differentiates Chikungunya virus infection.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1602177

By:

Bai, Xue;
Yan, Hanlin;
Wen, Guoxia;
Yuan, Shaoxun;
Gu, Wanjun

Publication type:

Article

Constructing ancestral recombination graphs through reinforcement learning.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1569358

By:

Raymond, Mélanie;
Descary, Marie-Hélène;
Beaulac, Cédric;
Larribe, Fabrice

Publication type:

Article

Artificial intelligence meets genomic selection: comparing deep learning and GBLUP across diverse plant datasets.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1568705

By:

Montesinos-López, Abelardo;
Montesinos-López, Osval A.;
Ramos-Pulido, Sofia;
Mosqueda-González, Brandon Alejandro;
Guerrero-Arroyo, Edgar Alejandro;
Crossa, José;
Ortiz, Rodomiro

Publication type:

Article

Potential common mechanisms between primary Sjögren's syndrome and Hashimoto's thyroiditis: a public databases-based study.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1520332

By:

Lin, Yanjun;
Tang, Shupin;
Lin, Yan;
Wang, Rihui;
Xing, Yifeng;
Xu, Zonghe;
Li, Yan;
Fang, Qingxia;
Wei, Wenwei;
Wu, Dong;
Chen, Jiang

Publication type:

Article

Skin transcriptomic and selection signature analyses identify ASIP as a key gene in cattle coat color determination.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1577647

By:

Wang, Xin;
Xu, Longxin;
Zhou, Di;
Lv, Yanli;
Wu, Junda;
Zhao, Yuanfeng;
Ni, Mengmeng;
Zhou, Wenzhang;
Zhang, Kaikai;
Wang, Hua;
Zhang, Jipan

Publication type:

Article

Shared genetic features inference among hypoxia-ischemia diseases in the presence of heterogenous omics data based on a novel risk assessment method.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1587854

By:

Zhang, Yifan;
Liu, Jianfeng;
Basang, Zhuoma;
Yang, Qianxun;
Chen, Hongce;
Chen, Shuo;
Li, Shaogang;
Lei, Changgui;
Fang, Mingyan;
Liu, Huanhuan;
Jin, Xin;
Wang, Yingying

Publication type:

Article

Exploring WNT pathway dysregulation in serrated colorectal cancer for improved diagnostic and therapeutic strategies.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1586867

By:

Zhu, Fengzhi;
Yan, Helen Hoi Ning;
Tong, Yin;
Zhao, Yueliang

Publication type:

Article

Frontier progress and translational challenges of pluripotent differentiation of stem cells.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1583391

By:

Su, Zhengbing;
Dong, Hui;
Fang, Xiang;
Zhang, Wenli;
Duan, Hong

Publication type:

Article

Integrative analysis of DNA methylation, RNA sequencing, and genomic variants in the cancer genome atlas (TCGA) to predict endometrial cancer recurrence.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1569122

By:

Hong, Jin Hwa;
Ouh, Yung Taek;
Jeong, Sohyeon;
Oh, Yoonji;
Cho, Hyun Woong;
Lee, Jae Kwan;
Kim, Hayeon;
Kim, Chungyeul;
Roh, Sanghyun;
Kim, Eun Na;
Chun, Yikyeong;
Gim, Jeong-An

Publication type:

Article

Single-cell transcriptomic construction of fibroblast score for analysis of immune infiltration in primary and metastatic ovarian cancer.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1549541

By:

Guo, Qian;
Ding, Hongmei;
Zheng, Qinlin

Publication type:

Article

A rare germline mutation reverses the suppressive effect of GPC5 thereby promoting lung adenocarcinoma development and tumorigenesis.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1582504

By:

Zheng, Zhifa;
Zhao, Lina;
Zhao, Sen;
Wu, Zhihong;
Wu, Nan

Publication type:

Article

Fetal karyotyping in adolescent pregnancies: a population-based cohort study on outcomes of invasive prenatal testing.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1581249

By:

Staniczek, Jakub;
Manasar-Dyrbuś, Maisa;
Sodowska, Patrycja;
Sodowski, Krzysztof;
Włoch, Agata;
Czuba, Bartosz;
Cnota, Wojciech;
Paul-Samojedny, Monika;
Kania, Agnieszka;
Sodowska, Henryka;
Rybak-Krzyszkowska, Magda;
Kondracka, Adrianna;
Stojko, Rafał;
Drosdzol-Cop, Agnieszka

Publication type:

Article

SAMHD1 knockout hiPSC model enables high lentiviral transduction efficiency in myeloid cell types.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1574545

By:

Li, Huinan;
Afroze, Maliha;
Arora, Gunisha;
Federman, Scot;
Shevade, Kaivalya;
Yang, Yeqing Angela;
Nguyen, Phuong;
Esanov, Rustam;
Przybyla, Laralynne;
Litterman, Adam;
Shafer, Shawn

Publication type:

Article

Emerging and evolving values in the changing landscape of genomics.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1566291

By:

Siermann, Maria;
Mohan, Riya;
Bunnik, Eline M.;
Cambon-Thomsen, Anne;
Chadwick, Ruth;
Cornel, Martina C.;
van Delden, Johannes J. M.;
Joly, Yann;
Molnár-Gábor, Fruzsina;
Nicolás Jiménez, Maria Pilar;
Pinxten, Wim;
Rial-Sebbag, Emmanuelle;
Shabani, Mahsa;
Van Steijvoort, Eva;
Wallace, Susan E.;
Zawati, Ma'n H.;
Knoppers, Bartha Maria;
Borry, Pascal

Publication type:

Article

Correlation of tumor necrosis factor-α and interleukin-1 single-nucleotide polymorphisms with the risk of migraine development.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1556498

By:

Huang, Guijiao;
Dong, Xin;
Shao, Xiaojiao;
Wu, Mengping;
Gao, Shan;
Wang, Yixuan;
Guan, Xinying

Publication type:

Article

Mitochondrial microRNAs (mitomiRs) as emerging biomarkers and therapeutic targets for chronic human diseases.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1555563

By:

Méndez-García, Andrea;
García-Mendoza, Marely Abigail;
Zárate-Peralta, Carmila Patricia;
Flores-Perez, Fernanda Valeria;
Carmona-Ramirez, Luis Fernando;
Pathak, Surajit;
Banerjee, Antara;
Duttaroy, Asim K.;
Paul, Sujay

Publication type:

Article

Prenatal diagnosis of a compound heterozygous variation in the FBXL4 gene by trio-WES and imaging monitoring: a case report.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1539288

By:

Zhai, Yujia;
Chen, Jing;
Yang, Shuo;
Wang, He;
Xiao, Yuanyuan;
Liu, Shanling

Publication type:

Article

Genetic diversity and novel haplotypes of Apis mellifera jemenitica on the Arabian Peninsula: insights from mtDNA markers.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1532988

By:

Alsharhi, Mohammed;
Al-Ghamdi, Ahmad;
Al-Garadi, Maged Ahmed;
Alburaki, Mohamed

Publication type:

Article

Key gene screening and diagnostic model establishment for acute type a aortic dissection.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1586880

By:

Pan, Yue;
Yu, Zhiming;
Qian, Xiaoyu;
Zhang, Xuesong;
Xue, Qun;
Xiao, Weizhang

Publication type:

Article

Genomic and health characteristics of crossbred dairy cattle in central Uganda.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1567910

By:

Sanchez-Molano, Enrique;
Mukiibi, Robert;
Riggio, Valentina;
Ogwang, Joel;
Kawule, Leonard;
Benda, Katali;
Beine, Peter;
de Clare Bronsvoort, Barend M.;
Prendergast, James;
Doeschl-Wilson, Andrea B.;
Muwonge, Adrian

Publication type:

Article

Integration of bulk RNA-seq and scRNA-seq reveals transcriptomic signatures associated with deep vein thrombosis.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1551879

By:

Pan, Bao-ze;
Jiang, Ming-jun;
Deng, Li-ming;
Chen, Jie;
Dai, Xian-peng;
Wu, Zi-xuan;
Deng, Zhi-he;
Luo, Dong-yang;
Wang, Yang-yi-jing;
Ning, Dan;
Xiong, Guo-zuo;
Bi, Guo-shan

Publication type:

Article

MSI expresso: a software for determining MSI status and detecting MSI-related transcription events from RNA sequencing data.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1523278

By:

Tubacher, Emmanuel;
How-Kit, Alexandre;
Sahbatou, Mourad;
Duval, Alex;
Renault, Victor;
Deleuze, Jean-François

Publication type:

Article

Genetic estimates and genome-wide association studies of antibody response in Tanzanian dairy cattle.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1497355

By:

Hernandez-Castro, Luis E.;
Cook, Elizabeth Anne Jessie;
Matika, Oswald;
Mengele, Isaac Joseph;
Motto, Shabani Kiyabo;
Bwatota, Shedrack Festo;
Zirra-Shallangwa, Bibiana;
Pong-Wong, Ricardo;
Prendergast, James;
Mrode, Raphael;
Toye, Philip G.;
Komwihangilo, Daniel Mushumbusi;
Lyatuu, Eliamoni;
Karani, Benedict E.;
Nangekhe, Getrude;
Mwai, Ally Okeyo;
Shirima, Gabriel Mkilema;
Bronsvoort, Barend Mark de Clare

Publication type:

Article