Frontiers in Genetics

Original Research

Published on 11 Dec 2024

The complete chloroplast genome of Illicium verum and comparative analysis with related species from Magnoliaceae and Illiciaceae

in Genomics of Plants and the Phytoecosystem

Yingying Cao
Yongxing Lai
Zhuxin Li
Shanshan Zhai
Yinghan Dai
Junyu Tao
Qing Wang
Ziheng Xu
Minjie Jiang
Li Yu

Frontiers in Genetics

doi 10.3389/fgene.2024.1452680

1,983 views
2 citations

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

2,001 views

Original Research

Published on 10 Dec 2024

Whole-exome sequencing identified a novel heterozygous variant in UBAP2L in a Chinese family with neurodevelopmental disorder characterized by impaired language, behavioral abnormalities, and dysmorphic facies

in Genetics of Common and Rare Diseases

Qi Yang
Qiang Zhang
Xunzhao Zhou
Juntan Feng
Shujie Zhang
Li Lin
Shang Yi
Zailong Qin
Jingsi Luo

Frontiers in Genetics

doi 10.3389/fgene.2024.1503048

2,788 views
2 citations

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

5,293 views
3 citations

Technology and Code

Published on 10 Dec 2024

MMPred: a tool to predict peptide mimicry events in MHC class II recognition

in Computational Genomics

Filippo Guerri
Valentin Junet
Judith Farrés
Xavier Daura

Frontiers in Genetics

doi 10.3389/fgene.2024.1500684

3,010 views
1 citation

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

2,529 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

3,375 views
11 citations

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

2,671 views

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

2,954 views
1 citation

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

2,005 views
1 citation

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

2,504 views
1 citation

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

2,555 views
2 citations

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

1,993 views

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

2,178 views
1 citation

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

2,416 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

2,124 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

2,676 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

3,020 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

2,195 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

3,961 views
8 citations

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

2,235 views
1 citation

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

3,671 views
4 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

1,185 views

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

1,694 views

16,525 articles

articles

The complete chloroplast genome of Illicium verum and comparative analysis with related species from Magnoliaceae and Illiciaceae

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

Whole-exome sequencing identified a novel heterozygous variant in UBAP2L in a Chinese family with neurodevelopmental disorder characterized by impaired language, behavioral abnormalities, and dysmorphic facies

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

MMPred: a tool to predict peptide mimicry events in MHC class II recognition

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

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

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

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

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

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

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

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

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

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

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

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

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