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

3,040 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

4,057 views
6 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

2,077 views
3 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

2,768 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

4,417 views
6 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

2,849 views
2 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

4,816 views
7 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

2,220 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

2,455 views
1 citation

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

3,278 views
6 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

3,089 views
4 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

2,029 views

Review

Published on 10 Mar 2023

The multifaceted biology of lncR-Meg3 in cardio-cerebrovascular diseases

in Human and Medical Genomics

Jing Li
Wenxiu Liu
Fu Peng
Xiaoyu Cao
Xiaofang Xie
Cheng Peng

Frontiers in Genetics

doi 10.3389/fgene.2023.1132884

4,112 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

5,753 views
4 citations

Editorial

Published on 09 Mar 2023

The 10th Santorini conference: Systems medicine, personalised health and therapy. “The odyssey from hope to practice: Patient first. Keep Ithaca always in your mind”, Santorini, Greece, 23–26 May 2022

in Human and Medical Genomics

Sophie Visvikis-Siest
Maria G. Stathopoulou
Raute Sunder-Plassmann
Behrooz Z. Alizadeh
Robert Barouki
Ekaterina Chatzaki
Georges Dagher
George Dedoussis
Panagiotis Deloukas
Alexander Haliassos

Frontiers in Genetics

doi 10.3389/fgene.2023.1171131

2,944 views

Case Report

Published on 08 Mar 2023

Novel mutation in exon11 of PRKCG (SCA14): A case report

in Human and Medical Genomics

Rong Sun
Xiang Tang
Xueqin Cao
Xinyu Shao
Hong Sun

Frontiers in Genetics

doi 10.3389/fgene.2023.1129988

1,899 views
1 citation

Navigation group

Articles

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

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

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

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

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

Identification of copy number variants contributing to hallux valgus

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

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

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

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

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

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

The multifaceted biology of lncR-Meg3 in cardio-cerebrovascular diseases

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

The 10th Santorini conference: Systems medicine, personalised health and therapy. “The odyssey from hope to practice: Patient first. Keep Ithaca always in your mind”, Santorini, Greece, 23–26 May 2022

Novel mutation in exon11 of PRKCG (SCA14): A case report