Results 71 to 80 of about 2,722 (177)

Delineation of a new fibrillino-2-pathy with evidence for a role of FBN2 in the pathogenesis of carpal tunnel syndrome

, 2020
BACKGROUND: Although carpal tunnel syndrome (CTS) is the most common form of peripheral entrapment neuropathy, its pathogenesis remains largely unknown.
Vandeweyer, Geert, Boudin, Eveline, Van Hul, Wim, Fransen, Erik, Lammens, Martin, Cain, Stuart Alan; id_orcid, Houpt, Peter, Noyez, Jan, Cain, Stuart Alan, Kumar, Ajay, Kumar, Ajay Anand, Hermans, Christophe, Mortier, Geert, Jacobs, Werner, Verstreken, Frederik, Decramer, Arne, Peeters, Silke, Baldock, Clair, Loeys, Bart   +18 more
core   +1 more source

A novel FBN2 mutation cosegregates with congenital contractural arachnodactyly in a five‐generation Chinese family

Clinical Case Reports, 2018
Key Clinical Message We identified a novel heterozygous mutation (c.4177T>G and p.Cys1393Gly) in FBN2 that cosegregated with congenital contractural arachnodactyly (CCA) in a five‐generation Chinese family.
Shiyuan Zhou, Fengyu Wang, Yongheng Dou, Jiping Zhou, Gefang Hao, Chengqi Xu, Qing K. Wang, Haili Wang, Pengyun Wang   +8 more
doaj   +1 more source

BMP signaling in wildtype and Fbn2 null forearm muscle.

, 2015
(A) Phosphosmad 1/5/8 immunofluorescence signals (green dots) within DAPI blue-stained nuclei of Fbn2 null muscle compared to wildtype at P1 and P8. (B)BMP mRNA expression levels in P0 Fbn2 heterozygous and null muscle compared to wildtype.
Francesco Ramirez (22223), Valerie Carlberg (761367), Eric J. Carlson (189254), Douglas R. Keene (46430), Lynn Y. Sakai (189267), Sara F. Tufa (189251), Noe L. Charbonneau (189257), Silvia Smaldone (22222), Gerhard Sengle (189245)   +8 more
core   +1 more source

Establishment of a Beals syndrome patient-derived human induced pluripotent stem cell line HELPi001-A

Stem Cell Research, 2019
The human induced pluripotent stem cell line HELPi001-A was derived from peripheral blood mononuclear cells (PBMC) of a 35-year-old female Beals syndrome patient carrying a heterozygous FBN2c.728 T > C mutation.
Hao Liu, Yatping Tsui, Jiaxian Wang, Chen Su, Rui Zheng, Yongfeng Shao, Buqing Ni   +6 more
doaj   +1 more source

Whole exome sequencing identifies a novel missense FBN2 mutation co-segregating in a four-generation Chinese family with congenital contractural arachnodactyly [PDF]

, 2016
BackgroundCongenital contractural arachnodactyly (CCA) is an autosomal dominant rare genetic disease, estimated to be less than 1 in 10,000 worldwide.
Yun Chen, Qinzhao Yuan, Yu, Baofeng, Jinjie Xue, Shi, Yaping, Xie, Jun, Yaping Shi, Chunying Song, Guo, Xingping, Huaixiu Wang, Yanan Yuan, Xinmin Li, Meng, Weijing, Qi, Lixin, Jun Xie, Yunxia Liang, Baofeng Yu, Li, Hongxia, Xingping Guo, Liang, Yunxia, Song, Chunying, Yuan, Yanan, Wang, Huaixiu, Xue, Jinjie, Chen, Yun, Li, Xinmin, Weijing Meng, Yuan, Qinzhao, Hongxia Li, Lixin Qi   +29 more
core   +1 more source

Single‐Nucleotide Polymorphisms Associated With Aortic and Varicose Vein–Related Vascular Anomalies: A Systematic Review

International Journal of Vascular Medicine, Volume 2026, Issue 1, 2026.
Vascular anomalies, including aneurysms, dissections, varicose veins, and abnormal branching, arise from both genetic and environmental influences. While rare monogenic disorders underscore the genetic basis of vascular structure, common single‐nucleotide polymorphisms (SNPs) may also shape vascular morphology.
Marlies Verleyen, Yukun He, Bert Callewaert, Isabelle Van Herzeele, Emmanuel Audenaert, Baohui Xu   +5 more
wiley   +1 more source

Clinical and genetic data of 7 patients with FBN2 c.3769T>C (p.C1257R) mutation.

, 2016
Clinical and genetic data of 7 patients with FBN2 c.3769T>C (p.C1257R) mutation.
Lamei Yuan (748098), Yi Guo (35817), Xiong Deng (429533), Hongbo Xu (748097), Liping Guan (420348), Zhi Song (429534), Hao Deng (409186), Jingjing Xiao (491533), Qian Lu (387695), Zhijian Yang (217065), Qiongfen Lin (2795020)   +10 more
core   +1 more source

Meta-analysis of genome-wide association study identifies FBN2 as a novel locus associated with systemic lupus erythematosus in Thai population

Arthritis Research & Therapy, 2020
Background Differences in the expression of variants across ethnic groups in the systemic lupus erythematosus (SLE) patients have been well documented. However, the genetic architecture in the Thai population has not been thoroughly examined.
Pattarin Tangtanatakul, Chisanu Thumarat, Nusara Satproedprai, Punna Kunhapan, Tassamonwan Chaiyasung, Siriwan Klinchanhom, Yong-Fei Wang, Wei Wei, Jeerapat Wongshinsri, Direkrit Chiewchengchol, Pongsawat Rodsaward, Pintip Ngamjanyaporn, Thanitta Suangtamai, Surakameth Mahasirimongkol, Prapaporn Pisitkun, Nattiya Hirankarn   +15 more
doaj   +1 more source

Engineering the Link: From Genome Interaction Maps to Functional Insight

Advanced Biology, Volume 9, Issue 12, December 2025.
Advances in chromosome conformation capture have revealed the genome's 3D organization, yet its causal impact on gene regulation remains elusive. This review highlights emerging genome‐engineering tools ‐ zinc fingers, TALEs, and CRISPR‐Cas9 ‐ that enable targeted manipulation of chromatin loops to dissect structure–function relationships. It discusses
Frido Petersen, Simon Westermann, Valeriia Smialkovska, Jan Mathony, Angelika Feldmann, Dominik Niopek   +5 more
wiley   +1 more source

Adamts1 Exacerbates Post‐Myocardial Infarction Scar Formation via Mechanosensing of Integrin α8

Advanced Science, Volume 12, Issue 46, December 11, 2025.
Proposed mechanistic model of ADAMTS1‐ITGα8 mechanotransduction in post‐MI scar formation. Schematic illustration showing the mechanistic pathway by which endothelial cell (EC) derived Adamts1 regulates cardiac fibroblast activation through ITGα8‐mediated mechanotransduction following myocardial infarction (MI).
Chun‐Yan Kong, Zhen Guo, Yu‐Lan Ma, Ming‐Yu Wang, Hai‐Yang Ni, Pan Wang, Wen‐Jun Qiu, En‐Gui Wang, Zhou Li, Zheng Yang, Bo Shen, Qi‐Zhu Tang   +11 more
wiley   +1 more source