Frontiers in Genetics

Editorial

Published on 10 Dec 2024

Editorial: Multi-omic approaches decipher the pathogenesis of nervous system diseases and identify potential therapeutic drugs

in Neurogenomics

Robert Friedman
Yasin Mamatjan
Cuiping Pan
Patrícia Pelufo Silveira
Margarita Zachariou

Frontiers in Genetics

doi 10.3389/fgene.2024.1520148

2,042 views

Original Research

Published on 10 Dec 2024

Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance

in Human and Medical Genomics

Amina Kurtovic-Kozaric
Lejla Delalic
Belma Mutapcic
Lejla Comor
Eric Siciliano
Mark J. Kiel

Frontiers in Genetics

doi 10.3389/fgene.2024.1487608

5,431 views
4 citations

Case Report

Published on 10 Dec 2024

Insights into diagnostic difficulties in spinal muscular atrophy: a Case Report series

in Genetics of Common and Rare Diseases

Kakha Bregvadze
Luka Abashishvili
Nana Nino Tatishvili
Teona Shatirishvili
Ana Bedoshvili
Gocha Chikvinidze
Arndt Rolfs
Volha Skrahina
Tinatin Tkemaladze

Frontiers in Genetics

doi 10.3389/fgene.2024.1502444

2,552 views
1 citation

Original Research

Published on 10 Dec 2024

DMOIT: denoised multi-omics integration approach based on transformer multi-head self-attention mechanism

in Computational Genomics

Zhe Liu
Taesung Park

Frontiers in Genetics

doi 10.3389/fgene.2024.1488683

3,445 views
12 citations

Original Research

Published on 09 Dec 2024

Validation of selection signatures for coat color in the Podolica Italiana gray cattle breed

in Evolutionary and Population Genetics

Silvia Bruno
Giacomo Rovelli
Vincenzo Landi
Fiorella Sbarra
Andrea Quaglia
Fabio Pilla
Emiliano Lasagna
Elena Ciani

Frontiers in Genetics

doi 10.3389/fgene.2024.1453295

2,975 views
1 citation

Original Research

Published on 09 Dec 2024

Four new genome sequences of the Pallas’s cat (Otocolobus manul): an insight into the patterns of within-species variability

in Evolutionary and Population Genetics

Jana Bubenikova
Martin Plasil
Pamela A. Burger
Petr Horin

Frontiers in Genetics

doi 10.3389/fgene.2024.1463774

2,713 views

Original Research

Published on 09 Dec 2024

UDP-glucuronosyltransferases 2A3 as a biomarker for ulcerative colitis and colon cancer

in Genetics of Common and Rare Diseases

Hao Chen

Frontiers in Genetics

doi 10.3389/fgene.2024.1419755

2,017 views
1 citation

Brief Research Report

Published on 09 Dec 2024

Gender-specific association of STON2 rs2371597 polymorphism in keratoconus patients of Saudi origin

in Genetics of Common and Rare Diseases

Altaf A. Kondkar
Tahira Sultan
Taif A. Azad
Tanvir Khatlani
Glenn P. Lobo
Hatem Kalantan
Saleh A. Al-Obeidan
Abdulrahman M. Al-Muammar

Frontiers in Genetics

doi 10.3389/fgene.2024.1505629

2,011 views

Original Research

Published on 09 Dec 2024

Integration of single-cell and bulk analysis reveals TBXAS1 as a key platelet-related gene causing poor prognosis in osteosarcoma

in Cancer Genetics and Oncogenomics

Han Liu
Wacili Da
Jianhua Mu
Xuanhong He
Zhuangzhuang Li
Taojun Gong
Jingjing Wang
Li Min
Minxun Lu
Chongqi Tu

Frontiers in Genetics

doi 10.3389/fgene.2024.1519529

2,585 views
2 citations

Original Research

Published on 09 Dec 2024

Identification of crucial drought-tolerant genes of barley through comparative transcriptomic analysis and yeast-based stress assay

in Genomics of Plants and the Phytoecosystem

Xiaoyan He
Congjun Su
Xinyi Zhang
Zhaoxia Shi
Yanjie Wang
Huandi Peng
Shuying Fang
Xinyu Chen
Huayan Yin
Jianbin Zeng

Frontiers in Genetics

doi 10.3389/fgene.2024.1524118

2,527 views
1 citation

Original Research

Published on 09 Dec 2024

AnchorFCI: harnessing genetic anchors for enhanced causal discovery of cardiometabolic disease pathways

in Computational Genomics

Adèle H. Ribeiro
Milena Crnkovic
Jaqueline Lopes Pereira
Regina Mara Fisberg
Flavia Mori Sarti
Marcelo Macedo Rogero
Dominik Heider
Andressa Cerqueira

Frontiers in Genetics

doi 10.3389/fgene.2024.1436947

2,226 views
2 citations

Case Report

Published on 06 Dec 2024

Case report: Multiple approach analysis in a case of clinically assessed myotonia congenita

in Genetics of Common and Rare Diseases

Sabrina Lucchiari
Francesco Fortunato
Giovanni Meola
Andrea Mignarri
Serena Pagliarani
Stefania Corti
Giacomo P. Comi
Dario Ronchi

Frontiers in Genetics

doi 10.3389/fgene.2024.1486977

2,443 views

Original Research

Published on 06 Dec 2024

Real-world efficacy and safety of combined first-line treatment with PARP inhibitors and novel hormonal therapy in mCRPC patients with HRR gene mutations

in Cancer Genetics and Oncogenomics

Andong Guo
Chenrui Wu
Jishuang Cao
Kejia Zhu
Sentai Ding

Frontiers in Genetics

doi 10.3389/fgene.2024.1505163

2,146 views

Editorial

Published on 05 Dec 2024

Editorial: CRISPR: the game changer in gene and cell therapy

in Human and Medical Genomics

Wenxia He
Meizhu Bai

Frontiers in Genetics

doi 10.3389/fgene.2024.1517298

2,716 views

Original Research

Published on 05 Dec 2024

Metabolic dysfunction-associated steatotic liver disease and gastroesophageal reflux disease: a mendelian randomization study in European and East Asian populations

in Statistical Genetics and Methodology

Chen’guang Su
Zheng Liao
Hewen Li
Yinxuan Pei
Zixiang Wang
Jian Li
Jinlong Liu

Frontiers in Genetics

doi 10.3389/fgene.2024.1428334

3,054 views
1 citation

Original Research

Published on 05 Dec 2024

Exploring the impact of deubiquitination on melanoma prognosis through single-cell RNA sequencing

in Cancer Genetics and Oncogenomics

Su Peng
Jiaheng Xie
Xiaohu He

Frontiers in Genetics

doi 10.3389/fgene.2024.1509049

2,226 views
1 citation

Case Report

Published on 05 Dec 2024

Case report: A single novel calpain 3 gene variant associated with mild myopathy

in Genetics of Common and Rare Diseases

Sara Massucco
Paola Fossa
Chiara Fiorillo
Elena Faedo
Chiara Gemelli
Rita Barresi
Michela Ripolone
Serena Patrone
Andrea Gaudio
Paola Mandich

Frontiers in Genetics

doi 10.3389/fgene.2024.1437859

2,273 views
1 citation

Original Research

Published on 05 Dec 2024

BIRC5 as a prognostic and diagnostic biomarker in pan-cancer: an integrated analysis of expression, immune subtypes, and functional networks

in Cancer Genetics and Oncogenomics

Guoyu Li
Yanghao Wang
Weizhou Wang
Guodong Lv
Xiang Li
Jingying Wang
Xiuyu Liu
Daolang Yuan
Shoujun Deng
Dingyun You

Frontiers in Genetics

doi 10.3389/fgene.2024.1509342

4,018 views
9 citations

Correction

Published on 04 Dec 2024

Corrigendum: Immune regulation and prognostic prediction model establishment and validation of PSMB6 in lung adenocarcinoma

in Cancer Genetics and Oncogenomics

Haiyang Zhao
Kexin Luo
Meihan Liu
Yuanze Cai
Siman Liu
Shijuan Li
Yongsheng Zhao
Hongpan Zhang

Frontiers in Genetics

doi 10.3389/fgene.2024.1531321

1,198 views

Original Research

Published on 04 Dec 2024

Systematic pharmacology-based strategy to investigate the mechanism of beta-sitosterol for the treatment of rheumarthritis

in Computational Genomics

Xiaodong Wang
Jingxin Mao

Frontiers in Genetics

doi 10.3389/fgene.2024.1507606

3,704 views
4 citations

Case Report

Published on 04 Dec 2024

Case report: A novel nonsense mutation in the MARVELD2 gene causes nonsyndromic hearing loss in a China family

in Human and Medical Genomics

Chuican Huang
Zhenning Huang
Ping Wang
Xijing Wu
Qiaomiao Zhou
Jun Ding
Qing Luo
Weijia Wu
Xialin Fan
Lichun Fan

Frontiers in Genetics

doi 10.3389/fgene.2024.1507600

1,722 views

Original Research

Published on 04 Dec 2024

Gene expression ranking change based single sample pre-disease state detection

in Computational Genomics

Zhenshen Bao
Xianbin Li
Peng Xu
Xiangzhen Zan

Frontiers in Genetics

doi 10.3389/fgene.2024.1509769

1,523 views

Methods

Published on 04 Dec 2024

OCRClassifier: integrating statistical control chart into machine learning framework for better detecting open chromatin regions

in Computational Genomics

Xin Lai
Min Liu
Yuqian Liu
Xiaoyan Zhu
Jiayin Wang

Frontiers in Genetics

doi 10.3389/fgene.2024.1400228

1,377 views

Original Research

Published on 04 Dec 2024

Identification of potential biomarkers from amino acid transporter in the activation of hepatic stellate cells via bioinformatics

in Statistical Genetics and Methodology

Yingying Zhao
Xueqing Xu
Huaiyang Cai
Wenhong Wu
Yingwei Wang
Cheng Huang
Heping Qin
Shuangyang Mo

Frontiers in Genetics

doi 10.3389/fgene.2024.1499915

2,534 views

16,546 articles

articles

Editorial: Multi-omic approaches decipher the pathogenesis of nervous system diseases and identify potential therapeutic drugs

Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance

Insights into diagnostic difficulties in spinal muscular atrophy: a Case Report series

DMOIT: denoised multi-omics integration approach based on transformer multi-head self-attention mechanism

Validation of selection signatures for coat color in the Podolica Italiana gray cattle breed

Four new genome sequences of the Pallas’s cat (Otocolobus manul): an insight into the patterns of within-species variability

UDP-glucuronosyltransferases 2A3 as a biomarker for ulcerative colitis and colon cancer

Gender-specific association of STON2 rs2371597 polymorphism in keratoconus patients of Saudi origin

Integration of single-cell and bulk analysis reveals TBXAS1 as a key platelet-related gene causing poor prognosis in osteosarcoma

Identification of crucial drought-tolerant genes of barley through comparative transcriptomic analysis and yeast-based stress assay

AnchorFCI: harnessing genetic anchors for enhanced causal discovery of cardiometabolic disease pathways

Case report: Multiple approach analysis in a case of clinically assessed myotonia congenita

Real-world efficacy and safety of combined first-line treatment with PARP inhibitors and novel hormonal therapy in mCRPC patients with HRR gene mutations

Editorial: CRISPR: the game changer in gene and cell therapy

Metabolic dysfunction-associated steatotic liver disease and gastroesophageal reflux disease: a mendelian randomization study in European and East Asian populations

Exploring the impact of deubiquitination on melanoma prognosis through single-cell RNA sequencing

Case report: A single novel calpain 3 gene variant associated with mild myopathy

BIRC5 as a prognostic and diagnostic biomarker in pan-cancer: an integrated analysis of expression, immune subtypes, and functional networks

Corrigendum: Immune regulation and prognostic prediction model establishment and validation of PSMB6 in lung adenocarcinoma

Systematic pharmacology-based strategy to investigate the mechanism of beta-sitosterol for the treatment of rheumarthritis

Case report: A novel nonsense mutation in the MARVELD2 gene causes nonsyndromic hearing loss in a China family

Gene expression ranking change based single sample pre-disease state detection

OCRClassifier: integrating statistical control chart into machine learning framework for better detecting open chromatin regions

Identification of potential biomarkers from amino acid transporter in the activation of hepatic stellate cells via bioinformatics