Original Research

Published on 05 Apr 2022

A Novel Mutation c.3392G>T of COL2A1 Causes Spondyloepiphyseal Dysplasia Congenital by Affecting Pre-mRNA Splicing

in Genetics of Common and Rare Diseases

Lihong Fan
Longfei Ji
Yuqing Xu
Guosong Shen
Kefeng Tang
Zhi Li
Sisi Ye
Xueping Shen

Frontiers in Genetics

doi 10.3389/fgene.2022.827560

2,187 views
2 citations

Case Report

Published on 04 Apr 2022

Genetic Analysis of a Pedigree With Antithrombin and Prothrombin Compound Mutations and Antithrombin Heterozygotes

in Genetics of Common and Rare Diseases

Haiyue Zhang
Yiling Hu
Dongli Pan
Yuehua Xv
Weifeng Shen

Frontiers in Genetics

doi 10.3389/fgene.2022.832582

1,687 views
3 citations

Original Research

Published on 04 Apr 2022

Clinical and Genetic Analysis in Neurological Wilson’s Disease Patients With Neurological Worsening Following Chelator Therapy

in Genetics of Common and Rare Diseases

Haiman Hou
Dingbang Chen
Junxiu Liu
Li Feng
Jiwei Zhang
Xiuling Liang
Yuming Xu
Xunhua Li

Frontiers in Genetics

doi 10.3389/fgene.2022.875694

2,719 views
7 citations

Original Research

Published on 01 Apr 2022

Epidermolysis Bullosa With Congenital Absence of Skin: Congenital Corneal Cloudiness and Esophagogastric Obstruction Including Extended Genotypic Spectrum of PLEC, LAMC2, ITGB4 and COL7A1

in Genetics of Common and Rare Diseases

Pharuhad Pongmee
Sanchawan Wittayakornrerk
Ramrada Lekwuttikarn
Sasikarn Pakdeeto
Piangor Watcharakuldilok
Chatchay Prempunpong
Thipwimol Tim-Aroon
Chawintee Puttanapitak
Piyawan Wattanasoontornsakul
Thitiporn Junhasavasdikul

Frontiers in Genetics

doi 10.3389/fgene.2022.847150

3,228 views
3 citations

Original Research

Published on 31 Mar 2022

LDL-C Concentrations and the 12-SNP LDL-C Score for Polygenic Hypercholesterolaemia in Self-Reported South Asian, Black and Caribbean Participants of the UK Biobank

in Genetics of Common and Rare Diseases

Jasmine Gratton
Chris Finan
Aroon D. Hingorani
Steve E. Humphries
Marta Futema

Frontiers in Genetics

doi 10.3389/fgene.2022.845498

4,646 views
5 citations

Original Research

Published on 31 Mar 2022

Detection of De Novo PAX2 Variants and Phenotypes in Chinese Population: A Single-Center Study

in Genetics of Common and Rare Diseases

Hua-Ying Xiong
Yong-Qi Shi
Cheng Zhong
Qin Yang
Gaofu Zhang
Haiping Yang
Daoqi Wu
Yaxi Chen
Qiu Li
Mo Wang

Frontiers in Genetics

doi 10.3389/fgene.2022.799562

3,008 views
6 citations

Original Research

Published on 30 Mar 2022

Autoimmune Disease Associated CLEC16A Variants Convey Risk of Parkinson’s Disease in Han Chinese

in Genetics of Common and Rare Diseases

Hui-Hui Fan
Lei Cui
Xiao-Xia Jiang
Ya-Dan Song
Shu-Shu Liu
Ke-Yun Wu
Hao-Jia Dong
Miao Mao
Begench Ovlyakulov
Hong-Mei Wu

Frontiers in Genetics

doi 10.3389/fgene.2022.856493

2,259 views
8 citations

Case Report

Published on 30 Mar 2022

Case Report: Identification of a De novo C19orf12 Variant in a Patient With Mitochondrial Membrane Protein–Associated Neurodegeneration

in Genetics of Common and Rare Diseases

Yue Yang
Shijie Zhang
Wenming Yang
Taohua Wei
Wenjie Hao
Ting Cheng
Jiuxiang Wang
Wei Dong
Nannan Qian

Frontiers in Genetics

doi 10.3389/fgene.2022.852374

2,175 views
3 citations

Original Research

Published on 30 Mar 2022

Integrative Analysis of Biomarkers and Mechanisms in Adamantinomatous Craniopharyngioma

in Genetics of Common and Rare Diseases

Da Lin
Wenyue Zhao
Jun Yang
Hao Wang
Hongbing Zhang

Frontiers in Genetics

doi 10.3389/fgene.2022.830793

3,533 views
11 citations

Case Report

Published on 29 Mar 2022

Case Report: Identification of a Novel Heterozygous Missense Mutation in COL4A3 Gene Causing Variable Phenotypes in an Autosomal-Dominant Alport Syndrome Family

in Genetics of Common and Rare Diseases

Yanglin Hu
Wei Li
Lulu Tian
Shuai Fu
Yonglong Min
Jia Liu
Fei Xiong

Frontiers in Genetics

doi 10.3389/fgene.2022.839212

2,072 views

Mini Review

Published on 29 Mar 2022

The Pathophysiological Link Between Reelin and Autism: Overview and New Insights

in Genetics of Common and Rare Diseases

Marcello Scala
Eleonora A. Grasso
Giuseppe Di Cara
Antonella Riva
Pasquale Striano
Alberto Verrotti

Frontiers in Genetics

doi 10.3389/fgene.2022.869002

3,736 views
11 citations

Case Report

Published on 28 Mar 2022

Case Report: Chanarin-Dorfman Syndrome: A Novel Homozygous Mutation in ABHD5 Gene in a Chinese Case and Genotype-Phenotype Correlation Analysis

in Genetics of Common and Rare Diseases

Bo Liang
He Huang
Jiaxiang Zhang
Gang Chen
Xiangsheng Kong
Mengting Zhu
Peiguang Wang
Lili Tang

Frontiers in Genetics

doi 10.3389/fgene.2022.847321

3,149 views
2 citations

Original Research

Published on 25 Mar 2022

Comparative Analysis of Differentially Mutated Genes in Non-Muscle and Muscle-Invasive Bladder Cancer in the Chinese Population by Whole Exome Sequencing

in Genetics of Common and Rare Diseases

Fangming Wang
Xiying Dong
Feiya Yang
Nianzeng Xing

Frontiers in Genetics

doi 10.3389/fgene.2022.831146

4,359 views
7 citations

Case Report

Published on 25 Mar 2022

Case Report: Prenatal Diagnosis of a Novel Variant c.251dupT (p.N87Kfs*6) in BCOR Resulting in Oculofaciocardiodental Syndrome Using Whole-Exome Sequencing

in Genetics of Common and Rare Diseases

Jianlong Zhuang
Chunnuan Chen
Yu’e Chen
Shuhong Zeng
Yuying Jiang
Yuanbai Wang
Xinying Chen
Yingjun Xie
Gaoxiong Wang

Frontiers in Genetics

doi 10.3389/fgene.2022.829613

1,635 views

Review

Published on 25 Mar 2022

Structural Variation at a Disease Mutation Hotspot: Strategies to Investigate Gene Regulation and the 3D Genome

in Genetics of Common and Rare Diseases

Alexandra Boyling
Gonzalo Perez-Siles
Marina L. Kennerson

Frontiers in Genetics

doi 10.3389/fgene.2022.842860

3,380 views
8 citations

Original Research

Published on 25 Mar 2022

Crucial Roles of microRNA-16-5p and microRNA-27b-3p in Ameloblast Differentiation Through Regulation of Genes Associated With Amelogenesis Imperfecta

in Genetics of Common and Rare Diseases

Akiko Suzuki
Hiroki Yoshioka
Teng Liu
Aania Gull
Naina Singh
Thanh Le
Zhongming Zhao
Junichi Iwata

Frontiers in Genetics

doi 10.3389/fgene.2022.788259

2,778 views
5 citations

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Articles

A Novel Mutation c.3392G>T of COL2A1 Causes Spondyloepiphyseal Dysplasia Congenital by Affecting Pre-mRNA Splicing

Genetic Analysis of a Pedigree With Antithrombin and Prothrombin Compound Mutations and Antithrombin Heterozygotes

Clinical and Genetic Analysis in Neurological Wilson’s Disease Patients With Neurological Worsening Following Chelator Therapy

Epidermolysis Bullosa With Congenital Absence of Skin: Congenital Corneal Cloudiness and Esophagogastric Obstruction Including Extended Genotypic Spectrum of PLEC, LAMC2, ITGB4 and COL7A1

LDL-C Concentrations and the 12-SNP LDL-C Score for Polygenic Hypercholesterolaemia in Self-Reported South Asian, Black and Caribbean Participants of the UK Biobank

Detection of De Novo PAX2 Variants and Phenotypes in Chinese Population: A Single-Center Study

Autoimmune Disease Associated CLEC16A Variants Convey Risk of Parkinson’s Disease in Han Chinese

Case Report: Identification of a De novo C19orf12 Variant in a Patient With Mitochondrial Membrane Protein–Associated Neurodegeneration

Integrative Analysis of Biomarkers and Mechanisms in Adamantinomatous Craniopharyngioma

Case Report: Identification of a Novel Heterozygous Missense Mutation in COL4A3 Gene Causing Variable Phenotypes in an Autosomal-Dominant Alport Syndrome Family

The Pathophysiological Link Between Reelin and Autism: Overview and New Insights

Case Report: Chanarin-Dorfman Syndrome: A Novel Homozygous Mutation in ABHD5 Gene in a Chinese Case and Genotype-Phenotype Correlation Analysis

Comparative Analysis of Differentially Mutated Genes in Non-Muscle and Muscle-Invasive Bladder Cancer in the Chinese Population by Whole Exome Sequencing

Case Report: Prenatal Diagnosis of a Novel Variant c.251dupT (p.N87Kfs*6) in BCOR Resulting in Oculofaciocardiodental Syndrome Using Whole-Exome Sequencing

Structural Variation at a Disease Mutation Hotspot: Strategies to Investigate Gene Regulation and the 3D Genome

Crucial Roles of microRNA-16-5p and microRNA-27b-3p in Ameloblast Differentiation Through Regulation of Genes Associated With Amelogenesis Imperfecta