Original Research

Published on 12 Aug 2022

ADD1 Single Nucleotide Polymorphisms Are Associated With Essential Hypertension Among Han and Mongolian Population in Inner Mongolia Area

in Genetics of Common and Rare Diseases

Yi Zhang
Peiye Chang
Zhiyue Liu

Frontiers in Genetics

doi 10.3389/fgene.2022.931803

1,681 views
3 citations

Case Report

Published on 12 Aug 2022

Case Report: Heterozygous Germline Variant in EIF6 Additional to Biallelic SBDS Pathogenic Variants in a Patient With Ribosomopathy Shwachman–Diamond Syndrome

in Genetics of Common and Rare Diseases

Ibrahim Taha
Selena Foroni
Roberto Valli
Annalisa Frattini
Pamela Roccia
Giovanni Porta
Marco Zecca
Elena Bergami
Marco Cipolli
Francesco Pasquali

Frontiers in Genetics

doi 10.3389/fgene.2022.896749

2,888 views
2 citations

Case Report

Published on 12 Aug 2022

Case report: Novel compound-heterozygous mutations in the TCN2 gene identified in a chinese girl with transcobalamin deficiency

in Genetics of Common and Rare Diseases

Juan Luo
Hongxi Guo
Lifang Feng
Luhong Yang
Xiaoqian Chen
Tingting Du
Man Hu
Hui Yao
Xiaohong Chen

Frontiers in Genetics

doi 10.3389/fgene.2022.951007

2,119 views
2 citations

Original Research

Published on 12 Aug 2022

Genetic association-based functional analysis detects HOGA1 as a potential gene involved in fat accumulation

in Genetics of Common and Rare Diseases

Myungsuk Kim
Kye Won Park
Yeongseon Ahn
Eun Bi Lim
Soo Heon Kwak
Ahmad Randy
No Joon Song
Kyong Soo Park
Chu Won Nho
Yoon Shin Cho

Frontiers in Genetics

doi 10.3389/fgene.2022.951025

2,655 views
1 citation

Original Research

Published on 11 Aug 2022

Identification of pathogenic genes associated with CKD: An integrated bioinformatics approach

in Genetics of Common and Rare Diseases

Mohd Murshad Ahmed
Zoya Shafat
Safia Tazyeen
Rafat Ali
Majed N. Almashjary
Rajaa Al-Raddadi
Steve Harakeh
Aftab Alam
Shafiul Haque
Romana Ishrat

Frontiers in Genetics

doi 10.3389/fgene.2022.891055

3,693 views
8 citations

Original Research

Published on 11 Aug 2022

The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders

in Genetics of Common and Rare Diseases

Simona Mellone
Chiara Puricelli
Denise Vurchio
Sara Ronzani
Simone Favini
Arianna Maruzzi
Cinzia Peruzzi
Amanda Papa
Alice Spano
Fabio Sirchia

Frontiers in Genetics

doi 10.3389/fgene.2022.875182

3,509 views
10 citations

Case Report

Published on 11 Aug 2022

Case Report: Evidences of myasthenia and cerebellar atrophy in a chinese patient with novel compound heterozygous MSTO1 variants

in Genetics of Common and Rare Diseases

Liqun Liu
Ruiting Su
Peng Huang
Xingfang Li
Jie Xiong
Yangyang Xiao
Dingan Mao
Lingjuan Liu

Frontiers in Genetics

doi 10.3389/fgene.2022.947886

2,086 views
2 citations

Case Report

Published on 11 Aug 2022

Case report: Biochemical and clinical phenotypes caused by cysteine substitutions in the epidermal growth factor-like domains of fibrillin-1

in Genetics of Common and Rare Diseases

Xin Liu
Kaiqing Liu
Danyao Nie
Jing Zhang
Liyun Zhang
Xinhua Liu
Jiantao Wang

Frontiers in Genetics

doi 10.3389/fgene.2022.928683

2,515 views
6 citations

Original Research

Published on 11 Aug 2022

Cell-based analysis of CLIC5A and SLC12A2 variants associated with hearing impairment in two African families

in Genetics of Common and Rare Diseases

Samuel Mawuli Adadey
Edmond Wonkam-Tingang
Leonardo Alves de Souza Rios
Elvis Twumasi Aboagye
Kevin Esoh
Noluthando Manyisa
Carmen De Kock
Gordon A. Awandare
Shaheen Mowla
Ambroise Wonkam

Frontiers in Genetics

doi 10.3389/fgene.2022.924904

2,150 views
1 citation

Case Report

Published on 11 Aug 2022

Case report: Prenatal diagnosis of Kagami–Ogata syndrome in a Chinese family

in Genetics of Common and Rare Diseases

Junjie Hu
Ying Zhang
Yanmei Yang
Liya Wang
Yixi Sun
Minyue Dong

Frontiers in Genetics

doi 10.3389/fgene.2022.959666

2,286 views
3 citations

Original Research

Published on 10 Aug 2022

Identified novel heterozygous HTRA1 pathogenic variants in Chinese patients with HTRA1-associated dominant cerebral small vessel disease

in Genetics of Common and Rare Diseases

Mei-Jiao Chen
Yi Zhang
Wen-Jiao Luo
Hai-Lin Dong
Qiao Wei
Juan Zhang
Qi-Qi Ruan
Wang Ni
Hong-Fu Li

Frontiers in Genetics

doi 10.3389/fgene.2022.909131

2,873 views
1 citation

Opinion

Published on 10 Aug 2022

FMRP, a multifunctional RNA-binding protein in quest of a new identity

in Genetics of Common and Rare Diseases

Edouard W. Khandjian
Claude Robert
Laetitia Davidovic

Frontiers in Genetics

doi 10.3389/fgene.2022.976480

3,433 views
6 citations

Original Research

Published on 10 Aug 2022

Downregulation of miRNA miR-1305 and upregulation of miRNA miR-6785-5p may be associated with psoriasis

in Genetics of Common and Rare Diseases

Jianjun Yan
Yunyue Zhen
Ruijie Wang
Xueqing Li
Shan Huang
Hua Zhong
He Wen
Qing Sun

Frontiers in Genetics

doi 10.3389/fgene.2022.891465

3,094 views
4 citations

Review

Published on 10 Aug 2022

The genetic interactions between non-alcoholic fatty liver disease and cardiovascular diseases

in Genetics of Common and Rare Diseases

Nicholas W.S. Chew
Bryan Chong
Cheng Han Ng
Gwyneth Kong
Yip Han Chin
Wang Xiao
Mick Lee
Yock Young Dan
Mark D. Muthiah
Roger Foo

Frontiers in Genetics

doi 10.3389/fgene.2022.971484

4,707 views
22 citations

Case Report

Published on 10 Aug 2022

Primary primitive neuroectodermal tumor of the cervix confirmed with molecular analysis in a pregnant woman: A case report and literature review

in Genetics of Common and Rare Diseases

Ding Wei
Zhao Jianguo
Li Xiao
Qu Pengpeng

Frontiers in Genetics

doi 10.3389/fgene.2022.871531

1,624 views
1 citation

Original Research

Published on 10 Aug 2022

Identifying gene variants underlying the pathogenesis of diabetic retinopathy based on integrated genomic and transcriptomic analysis of clinical extreme phenotypes

in Genetics of Common and Rare Diseases

Qiaoling Song
Yuchao Zhang
Minghui Zhang
Xiaoli Ma
Qianyue Zhang
Chenyang Zhao
Zhongwen Zhang
Huichen Zhao
Wenchao Hu
Xinxin Zhang

Frontiers in Genetics

doi 10.3389/fgene.2022.929049

2,754 views
2 citations

Navigation group

Articles

ADD1 Single Nucleotide Polymorphisms Are Associated With Essential Hypertension Among Han and Mongolian Population in Inner Mongolia Area

Case Report: Heterozygous Germline Variant in EIF6 Additional to Biallelic SBDS Pathogenic Variants in a Patient With Ribosomopathy Shwachman–Diamond Syndrome

Case report: Novel compound-heterozygous mutations in the TCN2 gene identified in a chinese girl with transcobalamin deficiency

Genetic association-based functional analysis detects HOGA1 as a potential gene involved in fat accumulation

Identification of pathogenic genes associated with CKD: An integrated bioinformatics approach

The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders

Case Report: Evidences of myasthenia and cerebellar atrophy in a chinese patient with novel compound heterozygous MSTO1 variants

Case report: Biochemical and clinical phenotypes caused by cysteine substitutions in the epidermal growth factor-like domains of fibrillin-1

Cell-based analysis of CLIC5A and SLC12A2 variants associated with hearing impairment in two African families

Case report: Prenatal diagnosis of Kagami–Ogata syndrome in a Chinese family

Identified novel heterozygous HTRA1 pathogenic variants in Chinese patients with HTRA1-associated dominant cerebral small vessel disease

FMRP, a multifunctional RNA-binding protein in quest of a new identity

Downregulation of miRNA miR-1305 and upregulation of miRNA miR-6785-5p may be associated with psoriasis

The genetic interactions between non-alcoholic fatty liver disease and cardiovascular diseases

Primary primitive neuroectodermal tumor of the cervix confirmed with molecular analysis in a pregnant woman: A case report and literature review

Identifying gene variants underlying the pathogenesis of diabetic retinopathy based on integrated genomic and transcriptomic analysis of clinical extreme phenotypes