Results 21 to 30 of about 3,833 (199)

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   +9 more sources

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

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

Clinical and molecular studies of EXT1/EXT2 in Bulgaria

Journal of Inherited Metabolic Disease, 2011
: EXT1/EXT2-CDG (Multiple cartilagineous exostoses, hereditary multiple osteochondroma (MO); OMIM 133700/133701) are common defects of O-xylosylglycan glycosylation.
Stancheva-Ivanova, Malina Kirilova, Vladimirov, Borislav Yordanov, Radeva, Briguita Ivanova, Sokolov, Todor Petrov, Kremensky, Ivo Marinov, Wuyts, Wim, Apostolova, Margarita Dimitrova, van Hul, Els, Vazharova, Radoslava Vasileva   +8 more
core   +4 more sources

Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses.

The American Journal of Human Genetics, 1997
Hereditary multiple exostoses (HME), the most frequent of all skeletal dysplasias, is an autosomal dominant disorder characterized by the presence of multiple exostoses localized mainly at the end of long bones.
Simpson, AH, Monaco, Anthony, Emerton, ME, Monaco, AP, Wells, DE, Philippe, C, Porter, DE   +6 more
core   +4 more sources

Clinical significance of exostosin 1 in confirmed and suspected lupus membranous nephropathy

Lupus Science and Medicine, 2023
Objective This study aimed to investigate the clinical significance of exostosin 1 (EXT1) in confirmed and suspected lupus membranous nephropathy (LMN).Methods EXT1 was detected in 67 renal tissues of M-type phospholipase A2 receptor (PLA2R)-negative and
Xiaohong Li, Tian ye, Mengya Jiang, Xueyan Zeng, Dan Zong, Yuanyuan Du, Biao Huang, Xuanli Tang   +7 more
doaj   +1 more source

Apolipoprotein F is reduced in humans with steatosis and controls plasma triglyceride‐rich lipoprotein metabolism

Hepatology, EarlyView., 2022
Hepatic APOF transcript levels correlate inversely with plasma TG and hepatic steatosis in humans. ApoF expression in mice promotes VLDL‐TG production and lipoprotein remnant clearance in mice. Abstract Background NAFLD affects nearly 25% of the global population. Cardiovascular disease (CVD) is the most common cause of death among patients with NAFLD,
Audrey Deprince, Nathalie Hennuyer, Sander Kooijman, Amanda C. M. Pronk, Eric Baugé, Viktor Lienard, An Verrijken, Eveline Dirinck, Luisa Vonghia, Eloïse Woitrain, Niels J. Kloosterhuis, Eléonore Marez, Pauline Jacquemain, Justina C. Wolters, Fanny Lalloyer, Delphine Eberlé, Sandrine Quemener, Emmanuelle Vallez, Anne Tailleux, Mostafa Kouach, Jean‐Francois Goossens, Violeta Raverdy, Bruno Derudas, Jan Albert Kuivenhoven, Mikaël Croyal, Bart van de Sluis, Sven Francque, François Pattou, Patrick C. N. Rensen, Bart Staels, Joel T. Haas   +30 more
wiley   +1 more source

SYFP2-EXT1 localization in ER structures

, 2021
SYFP2-EXT1 localization in the ER ...
Twizere, J (via Mendeley Data)
core   +2 more sources

Knockdown of EXT1 perturbs ER morphology

, 2021
ATL1, RTN4, Lpn1, Sec23a, Sec16b markers localization in Cos7 cells knockdown for EXT1 compared to control ...
Twizere, J (via Mendeley Data)
core   +2 more sources

Primary Membranous Nephropathy With Enhanced Staining of Exostosin 1/Exostosin 2 in the Glomeruli: A Report of 2 Cases

Kidney Medicine, 2021
Technological advances have allowed the discovery of 6 subtypes of membranous nephropathy based on target antigens: M-type phospholipase A2 receptor (PLA2R), thrombospondin type 1 domain-containing 7A (THSD7A), neural epidermal growth factor-like 1 ...
Takamasa Iwakura, Chiemi Ema, Taichi Sato, Shinsuke Isobe, Tomoyuki Fujikura, Naro Ohashi, Akihiko Kato, Hideo Yasuda   +7 more
doaj   +1 more source

Exostosin1 as a novel prognostic and predictive biomarker for squamous cell lung carcinoma: A study based on bioinformatics analysis

Cancer Medicine, 2021
The exostosin (EXT) protein family is involved in diverse human diseases. However, the expression and prognostic value of EXT genes in human lung squamous cell carcinoma (LUSC) is not well understood.
Disheng Wu, Chao Huo, Siyu Jiang, Yanxia Huang, Xuehong Fang, Jun Liu, Min Yang, Jianwei Ren, Bilian Xu, Yi Liu   +9 more
doaj   +1 more source