Results 1 to 10 of about 4,149 (184)

Retrospective analysis of serum NELL-1 and EXT1/2: no significant predictive value for treatment response in a cohort of membranous nephropathy patients [PDF]

Renal Failure
Neural epidermal growth factor-like protein 1 (NELL-1) and the exostosin 1/2 complex (EXT1/2) are recently identified target antigens in membranous nephropathy (MN), yet their prevalence and clinical features in Chinese populations remain poorly ...
Yemei Dai, Rongrong Feng, Xiaowen Duan, Xiaole Su, Lihua Wang   +4 more
doaj   +3 more sources

Ext1 heterozygosity causes a modest effect on postprandial lipid clearance in humans[S] [PDF]

Journal of Lipid Research, 2015
Elevated nonfasting TG-rich lipoprotein levels are a risk factor for CVD. To further evaluate the relevance of LDL-receptor (LDLr) pathway and heparan sulfate proteoglycans (HSPGs) in TG homeostasis, we analyzed fasting and postprandial TG levels in mice
Hans L. Mooij, Sophie J. Bernelot Moens, PhilipL.S.M. Gordts, KristinI. Stanford, ErinM. Foley, MarjoleinA.W. van den Boogert, JuliaJ. Witjes, H.Carlijne Hassing, MichaelW. Tanck, MichielA.J. van de Sande, J.Han Levels, JohnJ.P. Kastelein, ErikS.G. Stroes, GeesjeM. Dallinga-Thie, JeffD. Esko, Max Nieuwdorp   +15 more
doaj   +10 more sources

Exome sequencing and functional analysis identifies a novel mutation in EXT1 gene that causes multiple osteochondromas. [PDF]

PLoS ONE, 2013
Multiple osteochondromas (MO) is an inherited skeletal disorder, and the molecular mechanism of MO remains elusive. Exome sequencing has high chromosomal coverage and accuracy, and has recently been successfully used to identify pathogenic gene mutations.
Feng Zhang, Jinlong Liang, Xiong Guo, Yingang Zhang, Yan Wen, Qiang Li, Zengtie Zhang, Weijuan Ma, Lanlan Dai, Xuanzhu Liu, Ling Yang, Jun Wang, Jun Wang   +12 more
doaj   +3 more sources

Genotype and phenotype correlation analysis in 27 families with multiple osteochondroma and validation by ATDC5 chondrocyte models [PDF]

Bone & Joint Research
Aims: This study aimed to explore the genotype and phenotype correlation of patients with multiple osteochondroma (MO), and validate phenotypic differences in ATDC5 cell model with EXT1 or EXT2 gene disruption (EXT1 -/- or EXT2 -/-).
Xiaoyan Guo, Mingrui Lin, Shan Xu, Boling Liu, Rui Zhang, Shu Liu, Yuancheng Pan   +6 more
doaj   +2 more sources

Heparan Sulfate Biosynthesis Enzyme, Ext1, Contributes to Outflow Tract Development of Mouse Heart via Modulation of FGF Signaling. [PDF]

PLoS ONE, 2015
Glycosaminoglycans are important regulators of multiple signaling pathways. As a major constituent of the heart extracellular matrix, glycosaminoglycans are implicated in cardiac morphogenesis through interactions with different signaling morphogens ...
Rui Zhang, Peijuan Cao, Zhongzhou Yang, Zhenzhen Wang, Jiu-Lin Wu, Yan Chen, Yi Pan   +6 more
doaj   +3 more sources

Dual roles of exostosin glycosyltransferase 1 in Zika virus infection [PDF]

Virulence
Many factors involved in heparan sulfate (HS) biosynthesis and metabolism have been reported to play roles in viral infection. However, the detailed mechanisms are still not fully understood. In this study, we report that exostosin glycosyltransferase 1 (
Jiaxin Ling, Asifa Khan, Matthias Denkewitz, Marco Maccarana, Åke Lundkvist, Jin-Ping Li, Jinlin Li   +6 more
doaj   +2 more sources

Novel EXT1 variants cause divergent symptom severity in multiple cartilaginous exostoses: a family report [PDF]

Egyptian Journal of Medical Human Genetics
Background Multiple cartilaginous exostoses (MCE) are a rare genetic disorder characterized by multiple osteochondromas in the metaphysis of long bones. Case Presentation.
Gozde Atasever Yildirim, Ozlem Anlas, Rabia Miray Kisla Ekinci   +2 more
doaj   +2 more sources

The identification of a novel frameshift insertion mutation in the EXT1 gene in a Chinese family with hereditary multiple exostoses

Clinical Case Reports, 2022
To identify the pathogenic gene variation in a Chinese family with Hereditary Multiple Exostoses (HME). By examining blood‐sourced DNA and clinical manifestations of the proband and his family members, the whole exome sequencing (WES) and Sanger ...
Wanlu Liu, Xinwei Shi, Yuqi Li, Fuyuan Qiao, Yuanyuan Wu   +4 more
doaj   +2 more sources

Genetic and functional analyses detect an EXT1 splicing pathogenic variant in a Chinese hereditary multiple exostosis (HME) family

Molecular Genetics & Genomic Medicine, 2022
Background Hereditary multiple exostosis (HME) is an autosomal dominant skeletal disorder characterized by the development of multiple cartilage‐covered tumors on the external surfaces of bones (osteochondromas).
Jianwei Li, Zhiqiang Wang, Yaxin Han, Chengfang Jin, Dalin Cheng, Yong‐An Zhou, Junping Zhen   +6 more
doaj   +2 more sources

EXT1 and EXT2 Variants in 22 Chinese Families With Multiple Osteochondromas: Seven New Variants and Potentiation of Preimplantation Genetic Testing and Prenatal Diagnosis [PDF]

Frontiers in Genetics, 2020
Multiple osteochondromas (MO), the most common type of benign bone tumor, is an autosomal dominant skeletal disorder characterized by multiple cartilage-capped bony protuberances.
Ye Wang, Liangying Zhong, Yan Xu, Yan Xu, Lei Ding, Yuanjun Ji, Sacha Schutz, Sacha Schutz, Claude Férec, Claude Férec, David N. Cooper, Caixia Xu, Jian-Min Chen, Yanmin Luo   +13 more
doaj   +2 more sources