Fbn1 | List of Frontiers open access articles

Review

Published on 10 Jan 2024

The extracellular matrix glycoprotein fibrillin-1 in health and disease

in Molecular and Cellular Pathology

Li Li
Junxin Huang
Youhua Liu

Frontiers in Cell and Developmental Biology

doi 10.3389/fcell.2023.1302285

17,552 views
49 citations

Review

Published on 16 Aug 2022

Genotype-phenotype correlations of marfan syndrome and related fibrillinopathies: Phenomenon and molecular relevance

in Genetics of Common and Rare Diseases

Ze-Xu Chen
Wan-Nan Jia
Yong-Xiang Jiang

Frontiers in Genetics

doi 10.3389/fgene.2022.943083

14,564 views
31 citations

Original Research

Published on 20 Apr 2022

New Studies of the Aberrant Alterations in Fibrillin-1 Methylation During Colorectal Cancer Development

in Cancer Genetics

Ling Lv
Jianzhong Ma
Lina Wu
Chao Zhang
Yueping Wang
Guang Wang

Frontiers in Oncology

doi 10.3389/fonc.2022.862887

2,571 views
4 citations

Case Report

Published on 02 Jul 2025

Case Report: FBN1 mutation screening in South African patients with Marfan syndrome

in Human and Medical Genomics

F. Mhlongo
C. Feben
A. Krause
N. Carstens

Frontiers in Genetics

doi 10.3389/fgene.2025.1612411

2,206 views

Case Report

Published on 15 Jul 2024

Case Report: Two different acromelic dysplasia phenotypes in a Chinese family caused by a missense mutation in FBN1 and a literature review

in Genetics of Common and Rare Diseases

Fengyan Tian
Xiao Dong
Ruyue Yuan
Xiaohan Hou
Jing Qing
Yani Li

Frontiers in Pediatrics

doi 10.3389/fped.2024.1428513

3,212 views
1 citation

Case Report

Published on 07 Mar 2025

A novel missense variant of FBN1 gene in a Sardinian family with Marfan syndrome: a case report

in Genetics of Common and Rare Diseases

Marina Marsan
Mattia Brutti
F. Meloni
M. Marica
C. Soddu
F. Lai
D. Martorana
S. Savasta

Frontiers in Pediatrics

doi 10.3389/fped.2025.1549504

2,565 views
1 citation

Original Research

Published on 19 Mar 2025

Functional analysis of a novel FBN1 deep intronic variant causing Marfan syndrome in a Chinese patient

in Human and Medical Genomics

Qingming Wang
Fang Zhang
Xinlong Zhou
Hui Li
Juan Zhao
Haiming Yuan

Frontiers in Genetics

doi 10.3389/fgene.2025.1564824

2,230 views

Original Research

Published on 07 Apr 2022

Ameliorative Effect of Oxytocin on FBN1 and PEPCK Gene Expression, and Behavioral Patterns in Rats' Obesity-Induced Diabetes

in Clinical Diabetes

Asmaa Elnagar
Khalifa El-Dawy
Hussein I. El-Belbasi
Ibrahim F. Rehan
Hamdy Embark
Zeinab Al-Amgad
Obeid Shanab
Elsayed Mickdam
Gaber E. Batiha
Salman Alamery

Frontiers in Public Health

doi 10.3389/fpubh.2022.777129

6,159 views
11 citations

Original Research

Published on 13 Mar 2024

The Fbn1 gene variant governs passive ascending aortic mechanics in the mgΔlpn mouse model of Marfan syndrome when superimposed to perlecan haploinsufficiency

in Aortic Surgery and Endovascular Repair Archive

Samar A. Tarraf
Rodrigo Barbosa de Souza
Ashley Herrick
Lygia V. Pereira
Chiara Bellini

Frontiers in Cardiovascular Medicine

doi 10.3389/fcvm.2024.1319164

4,304 views
2 citations

Original Research

Published on 27 Jan 2022

Rare Variants and Polymorphisms of FBN1 Gene May Increase the Risk of Non-Syndromic Aortic Dissection

in Human and Medical Genomics

Meichen Pan
Lianjie Li
Zehao Li
Shu Chen
Zongzhe Li
Yuning Wang
Henghui He
Lihua Lin
Haihao Wang
Qian Liu

Frontiers in Genetics

doi 10.3389/fgene.2022.778806

4,413 views
5 citations

Original Research

Published on 10 Dec 2021

Classification and Interpretation for 11 FBN1 Variants Responsible for Marfan Syndrome and Pre-implantation Genetic Testing (PGT) for Two Families Successfully Blocked Transmission of the Pathogenic Mutations

in Molecular Diagnostics and Therapeutics

Songchang Chen
Hongjun Fei
Junyun Zhang
Yiyao Chen
Hefeng Huang
Daru Lu
Chenming Xu

Frontiers in Molecular Biosciences

doi 10.3389/fmolb.2021.749842

9,761 views
6 citations

Mini Review

Published on 11 Jul 2022

The Effects of Asprosin on Exercise-Intervention in Metabolic Diseases

in Clinical and Translational Physiology

Lifei Liu
Yuhao Liu
Mei Huang
Miao Zhang
Chenyu Zhu
Xi Chen
Samuel Bennett
Jiake Xu
Jun Zou

Frontiers in Physiology

doi 10.3389/fphys.2022.907358

11,423 views
23 citations

Case Report

Published on 16 Jul 2025

Case Report: A case of severe pulmonary hypertension combined with FBN1 mutation associated geleophysic dysplasia

in Pediatric Cardiology

Ze-yang Chen
Yuan Cao
Jie Yang
Xue-hua He
Li-ping Liu
Yong-hua Yuan

Frontiers in Pediatrics

doi 10.3389/fped.2025.1642390

1,425 views

Original Research

Published on 03 Nov 2025

A diagnostic RNA sequencing assay for direct identification and interpretation of pathogenic variants in the FBN1 gene

in Molecular Diagnostics and Therapeutics

Manal Irshaid
Ghadeera Al Mansoori
Mohamed Sulaiman
Asjed Mohamed
Mohammed Abdoh
Youssef M. Shalaby
Bashar Al-Zohily
Aalia Batool
Sara Aleissaee
Lara Alzyoud

Frontiers in Molecular Biosciences

doi 10.3389/fmolb.2025.1693943

1,957 views

Case Report

Published on 23 Apr 2025

Case Report: A FBN1 frameshift-and-nonsense mutation and aortic dissection in Marfan syndrome

in Cardiovascular Genetics and Systems Medicine

Chao Su
Linjun Zeng
Haocheng Lu
Zanxin Wang
Minxin Wei

Frontiers in Cardiovascular Medicine

doi 10.3389/fcvm.2025.1533138

3,839 views
1 citation

Original Research

Published on 13 Dec 2022

Novel and recurrent FBN1 mutations causing Marfan syndrome in two Chinese families

in Ophthalmology

Dandan Li
Jun Qiao
Dandan Huang
Ruru Guo
Jian Ji
Wei Liu

Frontiers in Medicine

doi 10.3389/fmed.2022.1086844

2,502 views
1 citation

Articles

The extracellular matrix glycoprotein fibrillin-1 in health and disease

Genotype-phenotype correlations of marfan syndrome and related fibrillinopathies: Phenomenon and molecular relevance

New Studies of the Aberrant Alterations in Fibrillin-1 Methylation During Colorectal Cancer Development

Case Report: FBN1 mutation screening in South African patients with Marfan syndrome

Case Report: Two different acromelic dysplasia phenotypes in a Chinese family caused by a missense mutation in FBN1 and a literature review

A novel missense variant of FBN1 gene in a Sardinian family with Marfan syndrome: a case report

Functional analysis of a novel FBN1 deep intronic variant causing Marfan syndrome in a Chinese patient

Ameliorative Effect of Oxytocin on FBN1 and PEPCK Gene Expression, and Behavioral Patterns in Rats' Obesity-Induced Diabetes

The Fbn1 gene variant governs passive ascending aortic mechanics in the mgΔlpn mouse model of Marfan syndrome when superimposed to perlecan haploinsufficiency

Rare Variants and Polymorphisms of FBN1 Gene May Increase the Risk of Non-Syndromic Aortic Dissection

Classification and Interpretation for 11 FBN1 Variants Responsible for Marfan Syndrome and Pre-implantation Genetic Testing (PGT) for Two Families Successfully Blocked Transmission of the Pathogenic Mutations

The Effects of Asprosin on Exercise-Intervention in Metabolic Diseases

Case Report: A case of severe pulmonary hypertension combined with FBN1 mutation associated geleophysic dysplasia

A diagnostic RNA sequencing assay for direct identification and interpretation of pathogenic variants in the FBN1 gene

Case Report: A FBN1 frameshift-and-nonsense mutation and aortic dissection in Marfan syndrome

Novel and recurrent FBN1 mutations causing Marfan syndrome in two Chinese families