Frontiers in Genetics | Genetics of Common and Rare Diseases

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

910 views

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

918 views

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

764 views

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

606 views

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

965 views

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

826 views

Editorial

Published on 02 Dec 2024

Editorial: Recent advances in understanding the genetics of immunological disorders

in Genetics of Common and Rare Diseases

Che Kang Lim
Hassan Abolhassani
Jinqiao Sun

Frontiers in Genetics

doi 10.3389/fgene.2024.1530187

825 views

Brief Research Report

Published on 29 Nov 2024

Genewise detection of variants in MEFV gene using nanopore sequencing

in Genetics of Common and Rare Diseases

Lilit Ghukasyan
Gisane Khachatryan
Tamara Sirunyan
Arpine Minasyan
Siras Hakobyan
Andranik Chavushyan
Varduhi Hayrapetyan
Hovsep Ghazaryan
Gevorg Martirosyan
Gohar Mkrtchyan

Frontiers in Genetics

doi 10.3389/fgene.2024.1493295

1,373 views

Brief Research Report

Published on 29 Nov 2024

Case Report: Novel CNGA3 compound heterozygous variants cause achromatopsia in three patients from a family

in Genetics of Common and Rare Diseases

Xiaoqiang Zhou
Yasi Zhou
Shuijuan Wu
Xiaoling Guo
Liangfeng Yao
Xingkun Yang

Frontiers in Genetics

doi 10.3389/fgene.2024.1457569

609 views

Original Research

Published on 29 Nov 2024

Detection of gene variants associated with recessive limb–girdle muscular weakness and Pompe disease in a global cohort of patients through the application of next-generation sequencing analysis

in Genetics of Common and Rare Diseases

Jorge Alfredo Bevilacqua
Abdullah Mohammed Al-Salti
Abubaker Al Madani
Armando Alves da Fonseca
Hacer Durmus
Josiah Chai
Ali Alshehri
Márcia Gonçalves Ribeiro
Paulo Sgobbi
Sergey S. Nikitin

Frontiers in Genetics

doi 10.3389/fgene.2024.1477291

1,213 views

Case Report

Published on 28 Nov 2024

Novel pathogenic ATM mutation with ataxia-telangiectasia in a Chinese family

in Genetics of Common and Rare Diseases

Qiaomin Zhou
Minling Chen
Enfu Tao

Frontiers in Genetics

doi 10.3389/fgene.2024.1491649

683 views

Case Report

Published on 28 Nov 2024

Case Report: Concurrent de novo pathogenic variants in the LMNA gene as a cause of sporadic partial lipodystrophy

in Genetics of Common and Rare Diseases

José L. Santos
José Patricio Miranda
Carlos F. Lagos
Víctor A. Cortés

Frontiers in Genetics

doi 10.3389/fgene.2024.1468878

1,182 views

Original Research

Published on 26 Nov 2024

Longitudinal transcriptome analysis reveals distinct gene expression patterns in traditional Chinese medicine syndromes of upper respiratory tract infections

in Genetics of Common and Rare Diseases

Hao Zou
Changrui Huang
Qinqi Feng
Bang Yu
Jian Liu
Xinyang Shu
Xiaolu Nie
Hongchun Zhang
Xiaohui Zou

Frontiers in Genetics

doi 10.3389/fgene.2024.1483098

863 views

Original Research

Published on 25 Nov 2024

Transcriptome analysis revealed that ischemic post-conditioning suppressed the expression of inflammatory genes in lung ischemia-reperfusion injury

in Genetics of Common and Rare Diseases

Liangen Lin
Congcong Sun
Yuanwen Ye
Peng Zhu
Keyue Pan
Linglong Chen

Frontiers in Genetics

doi 10.3389/fgene.2024.1425420

964 views

Case Report

Published on 22 Nov 2024

Case Report: Atypical motor development in a patient with the mosaic form of Down syndrome and spinal muscular atrophy type 2- long-term observation

in Genetics of Common and Rare Diseases

Ewa Gajewska
Jędrzej Fliciński
Magdalena Sobieska
Joanna Michalska
Marcin Żarowski
Barbara Steinborn

Frontiers in Genetics

doi 10.3389/fgene.2024.1483903

758 views

Original Research

Published on 21 Nov 2024

Exploring causal associations between interleukins, their receptors, and acute respiratory distress syndrome: a bidirectional-Mendelian Randomization study

in Genetics of Common and Rare Diseases

Jia-wei Ma
Ji-chun Tang
Hong-zhi Fang

Frontiers in Genetics

doi 10.3389/fgene.2024.1447661

1,054 views