Frontiers in Genetics | Genetics of Common and Rare Diseases

Original Research

Published on 07 May 2024

Exploring the genetic causal association of TIMP3 on CKD and kidney function: a two-sample mendelian randomization

in Genetics of Common and Rare Diseases

Huang Chen
Lixun Chen
Yufeng Chen
Qinyu Guo
Shirong Lin

Frontiers in Genetics

doi 10.3389/fgene.2024.1367399

1,267 views

Case Report

Published on 06 May 2024

Case report: Novel genotype of ALG2-CDG and confirmation of the heptasaccharide glycan (NeuAc-Gal-GlcNAc-Man2-GlcNAc2) as a specific diagnostic biomarker

in Genetics of Common and Rare Diseases

Ivan Martínez Duncker
Denisse Mata-Salgado
Ibrahim Shammas
Wasantha Ranatunga
Earnest James Paul Daniel
Mario E. Cruz Muñoz
Melania Abreu
Héctor Mora-Montes
Miao He
Eva Morava

Frontiers in Genetics

doi 10.3389/fgene.2024.1363558

2,083 views
1 citation

Correction

Published on 29 Apr 2024

Corrigendum: Novel FOXL2 variants in two Chinese families with blepharophimosis, ptosis, and epicanthus inversus syndrome

in Genetics of Common and Rare Diseases

Mingyu Zhao
Xiaolu Meng
Jiaqi Wang
Tailing Wang

Frontiers in Genetics

doi 10.3389/fgene.2024.1414939

729 views

Editorial

Published on 26 Apr 2024

Editorial: Ehlers-Danlos syndrome: from bedside to bench

in Genetics of Common and Rare Diseases

Tomoki Kosho
Shujiro Hayashi
Ken-ichi Matsumoto
Delfien Syx
Anupriya Kaur

Frontiers in Genetics

doi 10.3389/fgene.2024.1399386

1,420 views

Original Research

Published on 22 Apr 2024

Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health

in Genetics of Common and Rare Diseases

Rahma Mkaouar
Zied Riahi
Jihene Marrakchi
Nessrine Mezzi
Lilia Romdhane
Maroua Boujemaa
Hamza Dallali
Marwa Sayeb
Saida Lahbib
Hager Jaouadi

Frontiers in Genetics

doi 10.3389/fgene.2024.1384094

2,157 views

Brief Research Report

Published on 19 Apr 2024

Human induced pluripotent stem cells (hiPSCs) derived cells reflect tissue specificity found in patients with Leigh syndrome French Canadian variant (LSFC)

in Genetics of Common and Rare Diseases

Roselle Gélinas
Chloé Lévesque
Julie Thompson Legault
Marie-Eve Rivard
Louis Villeneuve
Catherine Laprise
John D. Rioux

Frontiers in Genetics

doi 10.3389/fgene.2024.1375467

1,476 views
2 citations

Original Research

Published on 18 Apr 2024

Endoplasmic reticulum stress-related gene expression causes the progression of dilated cardiomyopathy by inducing apoptosis

in Genetics of Common and Rare Diseases

Jinhao Chen
Xu Yang
Weiwen Li
Ying Lin
Run Lin
Xianzhen Cai
Baoxin Yan
Bin Xie
Jilin Li

Frontiers in Genetics

doi 10.3389/fgene.2024.1366087

1,884 views
1 citation

Original Research

Published on 16 Apr 2024

Polymorphism rs3733591 of the SLC2A9 gene and metabolic syndrome affect gout risk in Taiwan Biobank subjects

in Genetics of Common and Rare Diseases

Chun-Nan Lin
Chien-Chang Ho
Pao-Chun Hsieh
Chih-Hsuan Hsiao
Oswald Ndi Nfor
Yung-Po Liaw

Frontiers in Genetics

doi 10.3389/fgene.2024.1374405

1,266 views
1 citation

Systematic Review

Published on 12 Apr 2024

The top 100 most cited articles on mucopolysaccharidoses: a bibliometric analysis

in Genetics of Common and Rare Diseases

Ruyu Liao
Rongrong Geng
Yue Yang
Yufan Xue
Lili Chen
Lan Chen

Frontiers in Genetics

doi 10.3389/fgene.2024.1377743

1,832 views

Mini Review

Published on 12 Apr 2024

Pegunigalsidase alfa: a novel, pegylated recombinant alpha-galactosidase enzyme for the treatment of Fabry disease

in Genetics of Common and Rare Diseases

Dominique P. Germain
Ales Linhart

Frontiers in Genetics

doi 10.3389/fgene.2024.1395287

7,085 views
14 citations

Original Research

Published on 09 Apr 2024

Compound heterozygous mutation of the SNX14 gene causes autosomal recessive spinocerebellar ataxia 20

in Genetics of Common and Rare Diseases

Yuqi Shao
Saisai Yang
Jiafu Li
Lin Cheng
Jiawei Kang
Juan Liu
Jianhong Ma
Jie Duan
Yuanzhen Zhang

Frontiers in Genetics

doi 10.3389/fgene.2024.1379366

1,464 views

Brief Research Report

Published on 09 Apr 2024

Identification of a novel ANK1 gene variant c.1504-9G>A and its mechanism of intron retention in hereditary spherocytosis

in Genetics of Common and Rare Diseases

Ting Xiong
Zhongjin Xu
Qian Wan
Feng Chen
Yao Ye
Hong Wang
Chongjun Wu

Frontiers in Genetics

doi 10.3389/fgene.2024.1390924

1,188 views
1 citation

Original Research

Published on 04 Apr 2024

Analysis of SIRT1 genetic variants in young Mexican individuals: relationships with overweight and obesity

in Genetics of Common and Rare Diseases

S. Salazar-García
A. Ibáñez-Salazar
E. Lares-Villaseñor
Noemi Gaytan Pacheco
E. Uresti-Rivera
D. P. Portales-Pérez
U. De la Cruz-Mosso
J. M. Vargas-Morales

Frontiers in Genetics

doi 10.3389/fgene.2024.1278201

1,808 views
1 citation

Review

Published on 04 Apr 2024

Stigma associated with genetic testing for rare diseases—causes and recommendations

in Genetics of Common and Rare Diseases

Gareth Baynam
Roy Gomez
Ritu Jain

Frontiers in Genetics

doi 10.3389/fgene.2024.1335768

4,197 views
8 citations

Case Report

Published on 02 Apr 2024

Case Report: Intellectual disability and borderline intellectual functioning in two sisters with a 12p11.22 loss

in Genetics of Common and Rare Diseases

Haemi Choi
Jeong-A. Kim
Kyung-Ok Cho
Hyun Jung Kim
Min-Hyeon Park

Frontiers in Genetics

doi 10.3389/fgene.2024.1355823

2,161 views
1 citation

Original Research

Published on 27 Mar 2024

Functional analysis of RRAS2 pathogenic variants with a Noonan-like phenotype

in Genetics of Common and Rare Diseases

Takaya Iida
Arisa Igarashi
Kae Fukunaga
Taiga Aoki
Tomomi Hidai
Kumiko Yanagi
Masahiko Yamamori
Kazuhito Satou
Hayato Go
Tomoki Kosho

Frontiers in Genetics

doi 10.3389/fgene.2024.1383176

3,083 views
2 citations