Case Report

Published on 18 Aug 2021

Case Report: Identification of a Novel Homozygous Mutation in GPD1 Gene of a Chinese Child With Transient Infantile Hypertriglyceridemia

in Genetics of Common and Rare Diseases

Haihua Lin
Youhong Fang
Lin Han
Jie Chen
Jingan Lou
Jindan Yu

Frontiers in Genetics

doi 10.3389/fgene.2021.726116

2,667 views
5 citations

Case Report

Published on 16 Aug 2021

Case Report: Identification of a Heterozygous XPA c.553C>T Mutation Causing Neurological Impairment in a Case of Xeroderma Pigmentosum Complementation Group A

in Genetics of Common and Rare Diseases

Juan Antonio García-Carmona
Matthew J. Yousefzadeh
Fernando Alarcón-Soldevilla
Eva Fages-Caravaca
Tra L. Kieu
Mariah A. Witt
Ángel López-Ávila
Laura J. Niedernhofer
José Antonio Pérez-Vicente

Frontiers in Genetics

doi 10.3389/fgene.2021.717361

2,458 views
1 citation

Original Research

Published on 13 Aug 2021

Associations Between CYP17A1 and SERPINA6/A1 Polymorphisms, and Cardiometabolic Risk Factors in Black South Africans

in Genetics of Common and Rare Diseases

Siphiwe N. Dlamini
Ananyo Choudhury
Michèle Ramsay
Lisa K. Micklesfield
Shane A. Norris
Nigel J. Crowther
Andrew A. Crawford
Brian R. Walker
Zané Lombard
Julia H. Goedecke

Frontiers in Genetics

doi 10.3389/fgene.2021.687335

3,130 views
2 citations

Case Report

Published on 12 Aug 2021

Retrospective Diagnosis of a Novel ACAN Pathogenic Variant in a Family With Short Stature: A Case Report and Review of the Literature

in Genetics of Common and Rare Diseases

Valentina Mancioppi
Flavia Prodam
Simona Mellone
Roberta Ricotti
Enza Giglione
Nicolino Grasso
Denise Vurchio
Antonella Petri
Ivana Rabbone
Mara Giordano

Frontiers in Genetics

doi 10.3389/fgene.2021.708864

4,242 views
8 citations

Original Research

Published on 12 Aug 2021

Diaphyseal and Metaphyseal Modeling Defects—Clinical Findings and Identification of WRAP53 Deficiency in Craniometadiaphyseal Dysplasia

in Genetics of Common and Rare Diseases

Yun Hao
Xiao-Lin Wang
Jun Xiao
Chun-Lei Jiao
Xin-Yao Meng
Jia-Chao Guo
Jing-Fan Shao
Jie-Xiong Feng
Jin-Peng He

Frontiers in Genetics

doi 10.3389/fgene.2021.684905

3,254 views

Case Report

Published on 12 Aug 2021

Case Report: Expanding the Digenic Variants Involved in Thyroid Hormone Synthesis−10 New Cases of Congenital Hypothyroidism and a Literature Review

in Genetics of Common and Rare Diseases

Rulai Yang
Yijun Lu
Chenxi Yang
Xiaoyu Wu
Junqi Feng
Ling Zhu
Qiang Shu
Pingping Jiang

Frontiers in Genetics

doi 10.3389/fgene.2021.694683

3,879 views
5 citations

Mini Review

Published on 12 Aug 2021

Laminin Polymerization and Inherited Disease: Lessons From Genetics

in Genetics of Common and Rare Diseases

Liam Shaw
Conor J. Sugden
Kevin J. Hamill

Frontiers in Genetics

doi 10.3389/fgene.2021.707087

5,051 views
12 citations

Original Research

Published on 11 Aug 2021

Evidence That the Etiology of Congenital Hypopituitarism Has a Major Genetic Component but Is Infrequently Monogenic

in Genetics of Common and Rare Diseases

Youn Hee Jee
Mariam Gangat
Olga Yeliosof
Adrian G. Temnycky
Selena Vanapruks
Philip Whalen
Evgenia Gourgari
Cortney Bleach
Christine H. Yu
Ian Marshall

Frontiers in Genetics

doi 10.3389/fgene.2021.697549

3,367 views
6 citations

Original Research

Published on 11 Aug 2021

Correction of Vertebral Bone Development in Ectodysplasin A1-Deficient Mice by Prenatal Treatment With a Replacement Protein

in Genetics of Common and Rare Diseases

Clara-Sophie Kossel
Mandy Wahlbuhl
Sonia Schuepbach-Mallepell
Jung Park
Christine Kowalczyk-Quintas
Michaela Seeling
Klaus von der Mark
Pascal Schneider
Holm Schneider

Frontiers in Genetics

doi 10.3389/fgene.2021.709736

2,157 views
3 citations

Case Report

Published on 11 Aug 2021

Case Report: A Novel Gross Deletion in PAX3 (10.26 kb) Identified in a Chinese Family With Waardenburg Syndrome by Third-Generation Sequencing

in Genetics of Common and Rare Diseases

Jie-Yuan Jin
Lei Zeng
Bing-Bing Guo
Yi Dong
Ju-Yu Tang
Rong Xiang

Frontiers in Genetics

doi 10.3389/fgene.2021.705973

2,663 views
3 citations

Original Research

Published on 11 Aug 2021

The Effect of ACTN3 and VDR Polymorphisms on Skeletal Muscle Performance in Axial Spondyloarthropathies

in Genetics of Common and Rare Diseases

Isabel Pimenta
Hugo Mateus
Santiago Rodrigues-Manica
Rita Pinheiro-Torres
Agna Neto
Lúcia Domingues
Carolina Lage Crespo
Atlas Sardoo
Pedro Machado
Jaime C. Branco

Frontiers in Genetics

doi 10.3389/fgene.2021.688984

3,053 views
1 citation

Original Research

Published on 10 Aug 2021

Gender-Related Impact of Sclerostin Antibody on Bone in the Osteogenesis Imperfecta Mouse

in Genetics of Common and Rare Diseases

Mickaël Cardinal
Antoine Chretien
Thomas Roels
Sébastien Lafont
Michael S. Ominsky
Jean-Pierre Devogelaer
Daniel H. Manicourt
Catherine Behets

Frontiers in Genetics

doi 10.3389/fgene.2021.705505

3,042 views
9 citations

Systematic Review

Published on 10 Aug 2021

COL12A1 rs970547 Polymorphism Does Not Alter Susceptibility to Anterior Cruciate Ligament Rupture: A Meta-Analysis

in Genetics of Common and Rare Diseases

Zheng-tao Lv
Wei Wang
Dong-ming Zhao
Jun-ming Huang

Frontiers in Genetics

doi 10.3389/fgene.2021.665861

2,615 views
5 citations

Original Research

Published on 10 Aug 2021

The Estimated Prevalence of N-Linked Congenital Disorders of Glycosylation Across Various Populations Based on Allele Frequencies in General Population Databases

in Genetics of Common and Rare Diseases

Sander Pajusalu
Mari-Anne Vals
Laura Mihkla
Ustina Šamarina
Tiina Kahre
Katrin Õunap

Frontiers in Genetics

doi 10.3389/fgene.2021.719437

4,373 views
12 citations

Review

Published on 10 Aug 2021

Genetics, Epigenetics, and Gender Impact in Axial-Spondyloarthritis Susceptibility: An Update on Genetic Polymorphisms and Their Sex Related Associations

in Genetics of Common and Rare Diseases

Maria Sole Chimenti
Carlo Perricone
Arianna D’Antonio
Mario Ferraioli
Paola Conigliaro
Paola Triggianese
Cinzia Ciccacci
Paola Borgiani
Roberto Perricone

Frontiers in Genetics

doi 10.3389/fgene.2021.671976

6,716 views
15 citations

Original Research

Published on 09 Aug 2021

Hearing Loss in Id1−/−; Id3+/− and Id1+/−; Id3−/− Mice Is Associated With a High Incidence of Middle Ear Infection (Otitis Media)

in Genetics of Common and Rare Diseases

Qingyin Zheng
Tihua Zheng
Aizhen Zhang
Bin Yan
Bo Li
Zhaoqiang Zhang
Yan Zhang

Frontiers in Genetics

doi 10.3389/fgene.2021.508750

2,515 views
2 citations

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Articles

Case Report: Identification of a Novel Homozygous Mutation in GPD1 Gene of a Chinese Child With Transient Infantile Hypertriglyceridemia

Case Report: Identification of a Heterozygous XPA c.553C>T Mutation Causing Neurological Impairment in a Case of Xeroderma Pigmentosum Complementation Group A

Associations Between CYP17A1 and SERPINA6/A1 Polymorphisms, and Cardiometabolic Risk Factors in Black South Africans

Retrospective Diagnosis of a Novel ACAN Pathogenic Variant in a Family With Short Stature: A Case Report and Review of the Literature

Diaphyseal and Metaphyseal Modeling Defects—Clinical Findings and Identification of WRAP53 Deficiency in Craniometadiaphyseal Dysplasia

Case Report: Expanding the Digenic Variants Involved in Thyroid Hormone Synthesis−10 New Cases of Congenital Hypothyroidism and a Literature Review

Laminin Polymerization and Inherited Disease: Lessons From Genetics

Evidence That the Etiology of Congenital Hypopituitarism Has a Major Genetic Component but Is Infrequently Monogenic

Correction of Vertebral Bone Development in Ectodysplasin A1-Deficient Mice by Prenatal Treatment With a Replacement Protein

Case Report: A Novel Gross Deletion in PAX3 (10.26 kb) Identified in a Chinese Family With Waardenburg Syndrome by Third-Generation Sequencing

The Effect of ACTN3 and VDR Polymorphisms on Skeletal Muscle Performance in Axial Spondyloarthropathies

Gender-Related Impact of Sclerostin Antibody on Bone in the Osteogenesis Imperfecta Mouse

COL12A1 rs970547 Polymorphism Does Not Alter Susceptibility to Anterior Cruciate Ligament Rupture: A Meta-Analysis

The Estimated Prevalence of N-Linked Congenital Disorders of Glycosylation Across Various Populations Based on Allele Frequencies in General Population Databases

Genetics, Epigenetics, and Gender Impact in Axial-Spondyloarthritis Susceptibility: An Update on Genetic Polymorphisms and Their Sex Related Associations

Hearing Loss in Id1−/−; Id3+/− and Id1+/−; Id3−/− Mice Is Associated With a High Incidence of Middle Ear Infection (Otitis Media)