Results 81 to 90 of about 9,183 (184)

FBN1 Mutation Screening in a Marfan Syndrome Patient

Medica Hospitalia : Journal of Clinical Medicine, 2017
Background : MFS is characterized by variable clinical manifestations mainly in cardiovascular, ocular, and skeletal systems. The major encoding gene of structural constituent of extracellular microfibrils is Fibrillin-1 (FBN1). Approximately 90% of MFS cases are caused by mutations in the FBN1 gene (15q21.1) and the other second is TGFBR2 (3p22) gene.
Amallia Setyawati, Nani Maharani, Sultana Faradz, Gerard Pals, Sodiqur Rifqi, Muhammad Sungkar   +5 more
openaire   +2 more sources

Differential Myopathic and Transcriptomic Changes in Soleus and Gastrocnemius Muscles in a Novel Chronic Hindlimb Ischemia Rat Model Induced by Endovascular Catheter Occlusion

Acta Physiologica, Volume 242, Issue 8, August 2026.
ABSTRACT Peripheral artery disease (PAD) is a progressive atherothrombotic disorder affecting more than 230 million people worldwide. Conventional animal models of chronic hindlimb ischemia (HLI) are highly invasive, technically challenging, fail to account for anatomical variation, and may not accurately recapitulate progressive PAD pathophysiology ...
Oliver Kitzerow, Zhiqiu Xia, Samuel Gillman, Iraklis I. Pipinos, Han‐Jun Wang   +4 more
wiley   +1 more source

Skin fibroblasts of patients with geleophysic dysplasia due to FBN1 mutations have lysosomal inclusions and losartan improves their microfibril deposition defect

Molecular Genetics & Genomic Medicine, 2019
Background Geleophysic dysplasia (GPHYSD) is a disorder characterized by dysmorphic features, stiff joints and cardiac involvement due to defects of TGF‐β signaling. GPHYSD can be caused by mutations in FBN1, ADAMTLS2, and LTBP3 genes.
Pasquale Piccolo, Valeria Sabatino, Pratibha Mithbaokar, Elena Polishchuk, John Hicks, Roman Polishchuk, Carlos A. Bacino, Nicola Brunetti‐Pierri   +7 more
doaj   +1 more source

Datasets of genes coexpressed with FBN1 in mouse adipose tissue and during human adipogenesis

Data in Brief, 2016
This article contains data related to the research article entitled “Expression of FBN1 during adipogenesis: relevance to the lipodystrophy phenotype in Marfan syndrome and related conditions” [1].
Margaret R. Davis, Erik Arner, Cairnan R.E. Duffy, Paul A. De Sousa, Ingrid Dahlman, Peter Arner, Kim M. Summers   +6 more
doaj   +1 more source

Association of polymorphisms in FBN1, MYH11, and TGF-β signaling-related genes with susceptibility of sporadic thoracic aortic aneurysm and dissection in the Zhejiang Han population

Open Medicine
Sporadic thoracic aortic aneurysm and dissection (sTAAD) is a complicated vascular disease with a high mortality rate. And its genetic basis has not been fully explored.
Yu Shasha, Huang Lujie, Ren Jianfei, Zhang Xiaoying   +3 more
doaj   +1 more source

Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplification

BMC Medical Genetics, 2011
Background Connective tissue diseases characterized by aortic aneurysm, such as Marfan syndrome, Loeys-Dietz syndrome and Ehlers Danlos syndrome type IV are heterogeneous and despite overlapping phenotypes, the natural history, clinical manifestations ...
Lewis Tracey, Yetman Angela T, Rope Alan F, Wooderchak-Donahue Whitney, Furtado Larissa V, Plant Parker, Bayrak-Toydemir Pinar   +6 more
doaj   +1 more source

A novel FBN1 mutation causes autosomal dominant Marfan syndrome

Molecular Medicine Reports, 2017
Marfan syndrome (MFS) is an inherited and systemic disorder. It has been reported that mutations in the fibrillin‑1 gene (FBN1) account for ~90% of autosomal dominant cases of MFS. This study was conducted to screen mutations of FBN1 in a Chinese family with autosomal dominant MFS; four individuals including two patients with MFS were recruited.
Xiao, Ying, Liu, Xiaoqi, Guo, Xiaoxin, Liu, Liping, Jiang, Linxin, Wang, Qi, Gong, Bo   +6 more
openaire   +3 more sources

Targeted next‐generation sequencing reveals the genetic mechanism of Chinese Marfan syndrome cohort with ocular manifestation

Molecular Genetics & Genomic Medicine
Background Marfan syndrome (MFS) is a hereditary connective tissue disorder involving multiple systems, including ophthalmologic abnormalities. Most cases are due to heterozygous mutations in the fibrillin‐1 gene (FBN1).
Dongming Han, Ziwei Wang, Xuan Chen, Zijia Liu, Zhengtao Yang, Yixi Chen, Peiyi Tian, Jiankang Li, ZhuoShi Wang   +8 more
doaj   +1 more source

Lymphatic dysfunction and ZFP36 deficiency contribute to myxomatous valve degeneration in Marfan syndrome mice

The Journal of Clinical Investigation
Enhanced TGF-β signaling caused by mutations in Fibrillin-1 (FBN1) in patients with Marfan syndrome (MFS) leads to myxomatous degeneration of the mitral valve (MDMV).
Can Tan, Ziyou Ren, Shreya Kurup, Xianpeng Liu, Zhi-Dong Ge, Shodai Suzuki, Pritika Jakka, Cheryl Tang, M. Luisa Iruela-Arispe, Tsutomu Kume   +9 more
doaj   +1 more source

Identification and functional validation of a novel FBN1 variant in a Marfan syndrome family using a zebrafish model

BMC Genomics
Background Marfan syndrome (MFS) is an inherited autosomal dominant disorder that affects connective tissue with an incidence of about 1 in 5,000 to 10,000 people. 90% of MFS is caused by mutations in the fibrillin-1 (FBN1) gene.
Shitong Huang, Jiansong Chen, Qiuyu Wang, Ruyue Zhang, Jian Zhuang, Ruiyuan Huang, Changjiang Yu, Miaoxian Fang, Haishan Zhao, Liming Lei   +9 more
doaj   +1 more source