Frontiers in Genetics | Genetics of Common and Rare Diseases

Original Research

Published on 18 Sep 2024

A combined transcriptomics and proteomics approach reveals S100A4 as a potential biomarker for Graves’ orbitopathy

in Genetics of Common and Rare Diseases

Chiaw-Ling Chng
Oi Fah Lai
Lay-Leng Seah
Kai-Ling Yong
Yvonne Hsi-Wei Chung
Rochelle Goh
Che Kang Lim

Frontiers in Genetics

doi 10.3389/fgene.2024.1342205

1,556 views

Brief Research Report

Published on 18 Sep 2024

Monozygotic triplets with juvenile-onset autoimmunity and 18p microdeletion involving PTPRM

in Genetics of Common and Rare Diseases

Morten Krogh Herlin
Jens Magnus Bernth Jensen
Lotte Andreasen
Mikkel Steen Petersen
Jonas Lønskov
Mette Bendixen Thorup
Niels Birkebæk
Trine H. Mogensen
Troels Herlin
Bent Deleuran

Frontiers in Genetics

doi 10.3389/fgene.2024.1437566

1,295 views
1 citation

Original Research

Published on 16 Sep 2024

Association study reveals a susceptibility locus with male pattern baldness in the Han Chinese population

in Genetics of Common and Rare Diseases

Yang Li
He Huang
Bo Liang
Feng-Li Xiao
Fu-Sheng Zhou
Xiao-Dong Zheng
Sen Yang
Xue-Jun Zhang

Frontiers in Genetics

doi 10.3389/fgene.2024.1438375

1,775 views

Original Research

Published on 13 Sep 2024

Low prevalence of HIV in the northern Cameroon: contribution of some AIDS restriction genes and potential implications for gene therapy

in Genetics of Common and Rare Diseases

Patrice Djataou
Marceline Djuidje Ngounoue
Carine Nguefeu Nkenfou-Tchinda
Marie Nicole Ngoufack
Elise Elong
Aline Tiga
Clifford Muluh
Joelle Kadji Kameni
Moussa Djaouda
Alexis Ndjolo

Frontiers in Genetics

doi 10.3389/fgene.2024.1447971

1,489 views

Case Report

Published on 12 Sep 2024

Case report: Early (molecular) diagnosis is the clue: report on ALDH7A1 deficiency in newborns

in Genetics of Common and Rare Diseases

Patryk Lipiński
Katarzyna Wójcicka-Kowalczyk
Anna Bogdańska
Ewa Ehmke
Magdalena Pajdowska
Katarzyna Skrzypek
Agnieszka Charzewska
Dorota Hoffman-Zacharska

Frontiers in Genetics

doi 10.3389/fgene.2024.1464556

1,386 views
1 citation

Case Report

Published on 11 Sep 2024

Case report: Unveiling genetic and phenotypic variability in Nonketotic hyperglycinemia: an atypical early onset case associated with a novel GLRX5 variant

in Genetics of Common and Rare Diseases

Victor Marin
Louis Lebreton
Claire Guibet
Samir Mesli
Isabelle Redonnet-Vernhet
Mathurin Dexant
Delphine Lamireau
Sandrine Roche
Margaux Gaschignard
Jean Delmas

Frontiers in Genetics

doi 10.3389/fgene.2024.1432272

1,689 views

Case Report

Published on 09 Sep 2024

Case report: Whole exome sequencing reveals a novel splicing variant of ANKRD17 gene in a Chinese male juvenile with developmental delay and transient tic disorder

in Genetics of Common and Rare Diseases

Jing Chen
Shuo Yang
He Wang
Hongjing Wang
Yuanyuan Xiao
Shanling Liu

Frontiers in Genetics

doi 10.3389/fgene.2024.1422469

1,342 views

Brief Research Report

Published on 09 Sep 2024

De novo and inherited micro-CNV at 16p13.11 in 21 Chinese patients with defective cardiac left-right patterning

in Genetics of Common and Rare Diseases

Kun Yu
Weicheng Chen
Yan Chen
Libing Shen
Boxuan Wu
Yuan Zhang
Xiangyu Zhou

Frontiers in Genetics

doi 10.3389/fgene.2024.1458953

1,686 views

Original Research

Published on 05 Sep 2024

Development and clinical validation of a novel detection kit for α-thalassemia in southern Chinese

in Genetics of Common and Rare Diseases

Yi-Yuan Ge
Jun Xie
Yu-Wei Liao
Long-Xu Xie
Li-Ye Yang

Frontiers in Genetics

doi 10.3389/fgene.2024.1457248

1,336 views

Case Report

Published on 04 Sep 2024

Case report: A novel TLK2 variant with a neuropsychiatric phenotype from a Chinese family

in Genetics of Common and Rare Diseases

Hongmei Huang
Yue Qian
Chenlu Yang
Shijie Li

Frontiers in Genetics

doi 10.3389/fgene.2024.1419027

1,507 views

Case Report

Published on 02 Sep 2024

Case report: Second report of neuromuscular syndrome caused by biallelic variants in ASCC3

in Genetics of Common and Rare Diseases

Wang Li
Zhongliang Li
Junhui Fu
Kaili Xu
Daoqi Mei
Xiaona Wang
Taisong Li
Xilong Du

Frontiers in Genetics

doi 10.3389/fgene.2024.1382275

1,535 views

Correction

Published on 30 Aug 2024

Corrigendum: Evidence for a genetic contribution to the ossification of spinal ligaments in ossification of posterior longitudinal ligament and diffuse idiopathic skeletal hyperostosis: a narrative review

in Genetics of Common and Rare Diseases

Ana Rita Couto
Bruna Parreira
Deborah M. Power
Luís Pinheiro
João Madruga Dias
Irina Novofastovski
Iris Eshed
Piercarlo Sarzi-Puttini
Nicola Pappone
Fabiola Atzeni

Frontiers in Genetics

doi 10.3389/fgene.2024.1477788

976 views

Original Research

Published on 30 Aug 2024

Exome sequence analysis identifies a homozygous, pathogenic, frameshift variant in the MAN2B1 gene underlying clinical variant of α-mannosidosis

in Genetics of Common and Rare Diseases

Jamil Amjad Hashmi
Muhammad Latif
Reham M. Balahmar
Muhammad Zeeshan Ali
Fatima Alfadhli
Muzammil Ahmad Khan
Sulman Basit

Frontiers in Genetics

doi 10.3389/fgene.2024.1421943

1,795 views

Original Research

Published on 20 Aug 2024

Identification of biallelic mutations in MCM3AP and comprehensive literature analysis

in Genetics of Common and Rare Diseases

Chan Liu
Qingfeng Xie
Quan Hu
Bingwu Xiang
Kaiyi Zhao
Xiang Chen
Feixia Zheng

Frontiers in Genetics

doi 10.3389/fgene.2024.1405644

1,150 views

Systematic Review

Published on 20 Aug 2024

Association between vitamin D receptor gene polymorphisms and susceptibility to tuberculosis: a systematic review and meta-analysis

in Genetics of Common and Rare Diseases

Rongshan Tao
Shujuan Xiao
Lianping Wang
Chunjie Hu
Huiqin Suo
Ruiyu Long
Hangyu Liu
Wei Luo
Feng Hong
Jingming Zhao

Frontiers in Genetics

doi 10.3389/fgene.2024.1382957

1,738 views
3 citations

Original Research

Published on 20 Aug 2024

Severe mitochondrial encephalomyopathy caused by de novo variants in OPA1 gene

in Genetics of Common and Rare Diseases

Michela Di Nottia
Teresa Rizza
Enrico Baruffini
Claudia Nesti
Alessandra Torraco
Daria Diodato
Diego Martinelli
Flavio Dal Canto
Alexandru Ionut Gilea
Martina Zoccola

Frontiers in Genetics

doi 10.3389/fgene.2024.1437959

2,094 views