Frontiers in Genetics | Human and Medical Genomics

Editorial

Published on 05 Apr 2023

Editorial: Non-canonical nucleic acid structures, functions and their applications for understanding human genetic diseases

in Human and Medical Genomics

Roshan Satange
Peng Jin
Ming-Hon Hou
Ambadas B. Rode

Frontiers in Genetics

doi 10.3389/fgene.2023.1188978

3,098 views
1 citation

Editorial

Published on 05 Apr 2023

Editorial: Genetic factors in male infertility

in Human and Medical Genomics

Xiaojin He
Shenmin Yang
Mingrong Lv

Frontiers in Genetics

doi 10.3389/fgene.2023.1187445

1,677 views

Original Research

Published on 05 Apr 2023

Clinical efficacy of Yiqi Yangxue formula on knee osteoarthritis and unraveling therapeutic mechanism through plasma metabolites in rats

in Human and Medical Genomics

Ting Zhao
Shiqi Wang
Wenbin Liu
Jiayan Shen
Youwu Dai
Mingqin Shi
Xiaoyi Huang
Yuanyuan Wei
Tao Li
Xiaoyu Zhang

Frontiers in Genetics

doi 10.3389/fgene.2023.1096616

3,761 views
2 citations

Original Research

Published on 03 Apr 2023

A novel pyroptosis-related prognostic signature for lung adenocarcinoma: Identification and multi-angle verification

in Human and Medical Genomics

Xinyue Wang
Jing Zhou
Zhaona Li
Xiuqiong Chen
Qianhui Wei
Kaidi Chen
Richeng Jiang

Frontiers in Genetics

doi 10.3389/fgene.2023.1160915

3,687 views
4 citations

Review

Published on 29 Mar 2023

Mechanism of NLRP3 inflammasome intervention for synovitis in knee osteoarthritis: A review of TCM intervention

in Human and Medical Genomics

Xianfu Han
Demin Lin
Weiwei Huang
Dingpeng Li
Ning Li
Xingwen Xie

Frontiers in Genetics

doi 10.3389/fgene.2023.1159167

5,780 views
10 citations

Case Report

Published on 28 Mar 2023

Case Report: Identification of a rare nonsense mutation in the POC1A gene by NGS in a diabetes mellitus patient

in Human and Medical Genomics

Dongfeng Li
Shihui Li
Jingjing Zhou
Lili Zheng
Gui Liu
Chengzhang Ding
Xingyun Yuan

Frontiers in Genetics

doi 10.3389/fgene.2023.1113314

2,460 views
4 citations

Original Research

Published on 24 Mar 2023

Dynamic of centromere associated RNAs and the centromere loading of DNA repair proteins in growing oocytes

in Human and Medical Genomics

Lin-Li Yang
Yan-Chu Li
Tian-Jin Xia
Sen Li
Xie Feng
Chao Li
Feng-Yun Xie
Xiang-Hong Ou
Jun-Yu Ma

Frontiers in Genetics

doi 10.3389/fgene.2023.1131698

3,324 views
1 citation

Original Research

Published on 24 Mar 2023

LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation

in Human and Medical Genomics

Sergi Cesar
Monica Coll
Victoria Fiol
Anna Fernandez-Falgueras
Jose Cruzalegui
Anna Iglesias
Isaac Moll
Alexandra Perez-Serra
Estefanía Martínez-Barrios
Carles Ferrer-Costa

Frontiers in Genetics

doi 10.3389/fgene.2023.1135438

6,072 views
9 citations

Brief Research Report

Published on 23 Mar 2023

Identification of copy number variants contributing to hallux valgus

in Human and Medical Genomics

Wentao Zhou
Jun Jia
Hui-Qi Qu
Feier Ma
Junyi Li
Xiaohui Qi
Xinyi Meng
Zhiyong Ding
Gang Zheng
Hakon Hakonarson

Frontiers in Genetics

doi 10.3389/fgene.2023.1116284

3,505 views
4 citations

Original Research

Published on 23 Mar 2023

Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool

in Human and Medical Genomics

Frédéric Tran Mau-Them
Julian Delanne
Anne-Sophie Denommé-Pichon
Hana Safraou
Ange-Line Bruel
Antonio Vitobello
Aurore Garde
Sophie Nambot
Nicolas Bourgon
Caroline Racine

Frontiers in Genetics

doi 10.3389/fgene.2023.1099995

6,170 views
13 citations

Case Report

Published on 21 Mar 2023

Case report: A novel heterozygous frameshift mutation of ACAN in a Chinese family with short stature and advanced bone age

in Human and Medical Genomics

Hao Huang
Jieyuan Jin
Rong Xiang
Xia Wang

Frontiers in Genetics

doi 10.3389/fgene.2023.1101695

3,037 views
3 citations

Original Research

Published on 20 Mar 2023

Clinical and genetic characterization of pediatric patients with Wilson’s disease from Yunnan province where ethnic minorities gather

in Human and Medical Genomics

Yanjun Wang
Jiahui Fang
Bin Li
Chongyang Li
Shan Liu
Juan He
Lvyan Tao
Cuifen Li
Ya Yang
Li Li

Frontiers in Genetics

doi 10.3389/fgene.2023.1142968

3,157 views
4 citations

Original Research

Published on 17 Mar 2023

CLPP inhibition triggers apoptosis in human ovarian granulosa cells via COX5A abnormality–Mediated mitochondrial dysfunction

in Human and Medical Genomics

Xiong Yuan
Wenjie Ma
Shuping Chen
Huiyuan Wang
Chenyi Zhong
Li Gao
Yugui Cui
Danhua Pu
Rongrong Tan
Jie Wu

Frontiers in Genetics

doi 10.3389/fgene.2023.1141167

4,963 views
8 citations

Original Research

Published on 17 Mar 2023

Impacts of vitrification on the transcriptome of human ovarian tissue in patients with gynecological cancer

in Human and Medical Genomics

Ruihuan Gu
Naidong Ge
Bin Huang
Jing Fu
Ying Zhang
Ningyi Wang
Yan Xu
Lu Li
Xiandong Peng
Yaoyu Zou

Frontiers in Genetics

doi 10.3389/fgene.2023.1114650

3,772 views
6 citations

Case Report

Published on 15 Mar 2023

Severe nephrotic syndrome and early end-stage diabetic kidney disease in ABCC8-MODY12: A case report

in Human and Medical Genomics

Sophie H. Schmidt
Ursula Barnas
Christof Aigner
Peter Wolf
Nicolas Kozakowski
Renate Kain
Thomas Scherer
Alice Schmidt
Gere Sunder-Plassmann

Frontiers in Genetics

doi 10.3389/fgene.2023.1132772

2,534 views
1 citation

Original Research

Published on 10 Mar 2023

Positive cfDNA screening results for 22q11.2 deletion syndrome—Clinical and laboratory considerations

in Human and Medical Genomics

Erica Soster
Brittany Dyr
Jill Rafalko
Eyad Almasri
Phillip Cacheris

Frontiers in Genetics

doi 10.3389/fgene.2023.1146669

6,888 views
10 citations