Frontiers in Genetics | Genetics of Common and Rare Diseases

Original Research

Published on 09 Aug 2024

Analyzing three pedigrees in X-linked Alport syndrome with the presentation of nephrotic syndrome

in Genetics of Common and Rare Diseases

Jian-Hui Zhang
Jie Liu
Dan-Dan Ruan
Qian Chen
Jie Yang
Min Wu
Hong-Ping Yu
Li-Sheng Liao
Xiao-Ling Zheng
Jie-Wei Luo

Frontiers in Genetics

doi 10.3389/fgene.2024.1419154

1,387 views

Case Report

Published on 09 Aug 2024

Case Report: Whole exome sequencing identifies compound heterozygous variants in the TRAPPC9 gene in a child with developmental delay

in Genetics of Common and Rare Diseases

Bingxuan Yu
Jing Chen
Shuo Yang
He Wang
Yuanyuan Xiao
Shanling Liu

Frontiers in Genetics

doi 10.3389/fgene.2024.1415194

1,142 views

Original Research

Published on 08 Aug 2024

Using preimplantation genetic testing for monogenic disease for preventing citrullinemia type 1 transmission

in Genetics of Common and Rare Diseases

Zubo Wu
Tao Liang
Yi Liu
Xiaofang Ding
Defeng Shu

Frontiers in Genetics

doi 10.3389/fgene.2024.1389461

1,073 views

Mini Review

Published on 08 Aug 2024

The role of primary cilia in congenital heart defect-associated neurological impairments

in Genetics of Common and Rare Diseases

Nemanja Sarić
Nobuyuki Ishibashi

Frontiers in Genetics

doi 10.3389/fgene.2024.1460228

1,514 views

Original Research

Published on 06 Aug 2024

Genetic testing and human leukocyte antigen in patients with hypertrophic cardiomyopathy and connective tissue diseases

in Genetics of Common and Rare Diseases

Daigo Hiraya
Nobuyuki Murakoshi
Miyako Igarashi
DongZhu Xu
Tomoko Ishizu

Frontiers in Genetics

doi 10.3389/fgene.2024.1432670

1,276 views

Review

Published on 02 Aug 2024

Molecular mechanisms and genetic factors contributing to the developmental dysplasia of the hip

in Genetics of Common and Rare Diseases

Xiaoming Zhao
Shuai Liu
Zhonghua Yang
Yong Li

Frontiers in Genetics

doi 10.3389/fgene.2024.1413500

2,311 views
2 citations

Case Report

Published on 02 Aug 2024

Case report: Comprehensive exploration of a novel PFKM mutation in glycogen storage disease Type VII

in Genetics of Common and Rare Diseases

Ying Chen
Xinyu Wang
Na Ji
Qi Fang
Xin Chang
Meirong Liu

Frontiers in Genetics

doi 10.3389/fgene.2024.1422908

1,437 views

Original Research

Published on 01 Aug 2024

Authentication and validation of key genes in the treatment of atopic dermatitis with Runfuzhiyang powder: combined RNA-seq, bioinformatics analysis, and experimental research

in Genetics of Common and Rare Diseases

Yan Lin
Guangyi Xiong
Xiansong Xia
Zhiping Yin
Xuhui Zou
Xu Zhang
Chenghao Zhang
Jianzhou Ye

Frontiers in Genetics

doi 10.3389/fgene.2024.1335093

1,946 views

Original Research

Published on 31 Jul 2024

Predicting novel biomarkers for early diagnosis and dynamic severity monitoring of human ulcerative colitis

in Genetics of Common and Rare Diseases

Yu Chen
Li Chen
Sheng Huang
Li Yang
Li Wang
Feiyun Yang
Jinxiu Huang
Xiuliang Ding

Frontiers in Genetics

doi 10.3389/fgene.2024.1429482

1,877 views

Brief Research Report

Published on 30 Jul 2024

SMN1 c.5C>G (p.Ala2Gly) missense variant, a challenging molecular SMA diagnosis associated with mild disease, preserves SMN nuclear gems in patient-specific fibroblasts

in Genetics of Common and Rare Diseases

Sara L. Cook
Christian Stout
Lindsey Kirkeby
Noemi Vidal-Folch
Devin Oglesbee
Linda Hasadsri
Duygu Selcen
Margherita Milone
Daniel Anderson
Nathan P. Staff

Frontiers in Genetics

doi 10.3389/fgene.2024.1406819

1,767 views
2 citations

Case Report

Published on 30 Jul 2024

Novel de novo SPAST mutation in a Han Chinese SPG4 patient: a case report

in Genetics of Common and Rare Diseases

Yu-Han Xu
Bao-Yu Yuan
Jia-Le Ji
Di Wu
Hong Zhou
Yi-Jing Guo

Frontiers in Genetics

doi 10.3389/fgene.2024.1410381

976 views

Original Research

Published on 29 Jul 2024

Preimplantation genetic testing for complex chromosomal rearrangements: clinical outcomes and potential risk factors

in Genetics of Common and Rare Diseases

Dun Liu
Chuangqi Chen
Qianwen Huang
Yunqiao Dong
Liqing Xu
Mei Dong
Zhenghong Zhu
Li Huang
Fang Wang
Lijia Zhang

Frontiers in Genetics

doi 10.3389/fgene.2024.1401549

1,609 views

Systematic Review

Published on 29 Jul 2024

The prevalence, diagnostic accuracy and genotype-phenotype correlation of GNAS mutations in fibrous dysplasia: a meta-analysis

in Genetics of Common and Rare Diseases

Ao-Bo Zhang
Jian-Yun Zhang
Jiang Xue
Zhen-Chao Wu
Zhi-Xiu Xu
Li-Sha Sun
Tie-Jun Li

Frontiers in Genetics

doi 10.3389/fgene.2024.1377716

1,655 views
2 citations

Case Report

Published on 24 Jul 2024

Case report: First Chinese patient with family partial lipodystrophy type 6 due to novel compound heterozygous mutations in the LIPE gene

in Genetics of Common and Rare Diseases

Yimeng Zhou
Lin Zhang
Yang Ding
Yongzhen Zhai

Frontiers in Genetics

doi 10.3389/fgene.2024.1417613

1,356 views
2 citations

Original Research

Published on 23 Jul 2024

Deciphering the genomic insights into the coexistence of congenital scoliosis and congenital anomalies of the kidney and urinary tract

in Genetics of Common and Rare Diseases

Haojun Wang
Wen Wen
Mingxi Yao
Tongwang Yang
Dongshan Chen
Wei Wang

Frontiers in Genetics

doi 10.3389/fgene.2024.1399604

1,483 views

Original Research

Published on 22 Jul 2024

Clinical and molecular characteristics of Kabuki syndrome patients with missense variants—novel features and literature review

in Genetics of Common and Rare Diseases

Snir Boniel
Maria Krajewska
Beata Pyrżak
Monika Paluchowska
Anna Majcher
Magdalena Zarlenga
Katarzyna Krenke
Robert Śmigiel
Anetta Jeziorek
Krystyna Szymańska

Frontiers in Genetics

doi 10.3389/fgene.2024.1402531

1,992 views