Results 81 to 90 of about 2,624 (190)

Hereditary Multiple Osteochondromas and Acute Lymphoblastic Leukemia: A Possible Role for EXT1 and EXT2 in Hematopoietic Malignancies

American Journal of Medical Genetics Part A, Volume 197, Issue 7, July 2025.
ABSTRACT Hereditary multiple osteochondromas (HMO) is an autosomal dominant disorder caused by heterozygous deleterious variants in the EXT1 or EXT2 genes. While the clinical core phenotype is well established and mainly consists of bone deformities, limb length discrepancies, multiple benign bone neoplasms, and increased risk of chondrosarcoma, the ...
Francesco Comisi, Carmela Fusco, Rosamaria Mura, Carla Cerruto, Leonardo D'Agruma, Salvatore Carnazzo, Marco Castori, Salvatore Savasta   +7 more
wiley   +1 more source

Plasma proteome correlates of lipid and lipoprotein: biomarkers of metabolic diversity and inflammation in children of rural Nepal. [PDF]

, 2019
Proteins involved in lipoprotein metabolism can modulate cardiovascular health. While often measured to assess adult metabolic diseases, little is known about the proteomes of lipoproteins and their relation to metabolic dysregulation and underlying ...
Christian, Parul, Cole, Robert N, Eroglu, Abdulkerim, Groopman, John, Lee, Sun Eun, Schulze, Kerry, Stewart, Christine P, West, Keith P, Wu, Lee S-F, Yager, James D   +9 more
core  

Epigenetic loss of the familial tumor-suppressor gene exostosin-1 (EXT1) disrupts heparan sulfate synthesis in cancer cells [PDF]

Human Molecular Genetics, 2004
Germline mutations in the Exostoses-1 gene (EXT1) are found in hereditary multiple exostoses syndrome, which is characterized by the formation of osteochondromas and an increased risk of chondrosarcomas and osteosarcomas. However, despite its putative tumor-suppressor function, little is known of the contribution of EXT1 to human sporadic malignancies.
S. Ropero, F. Setien, J. Espada, M. F. Fraga, M. Herranz, J. Asp, M. S. Benassi, FRANCHI, ALESSANDRO, A. Patino, L. S. Ward, J. Bovee, J. C. Cigudosa, W. Wim, M. Esteller   +13 more
openaire   +4 more sources

Recent Advances in Enzymes and Chemoenzymatic Synthesis of Tetrasaccharide Linkage Region of Proteoglycans

ChemBioChem, Volume 26, Issue 10, May 27, 2025.
The tetrasaccharide linkage region of proteoglycans is synthesized through a series of well‐controlled enzymatic reactions in nature. The expression, activity, and substrate profile of these biosynthetic enzymes and the latest development of chemoenzymatic synthesis of linkage region‐bearing glycopeptides are summarized in this review.
Po‐han Lin, Xuefei Huang
wiley   +1 more source

Structural Features of Heparan Sulfate from Multiple Osteochondromas and Chondrosarcomas

Molecules, 2018
Multiple osteochondromas (MO) is a hereditary disorder associated with benign cartilaginous tumors, known to be characterized by absence or highly reduced amount of heparan sulfate (HS) in the extracellular matrix of growth plate cartilage, which alters ...
Noemi Veraldi, Alessandro Parra, Elena Urso, Cesare Cosentino, Manuela Locatelli, Serena Corsini, Elena Pedrini, Annamaria Naggi, Antonella Bisio, Luca Sangiorgi   +9 more
doaj   +1 more source

, a splicing variant of is a context-dependent activator and inhibitor of Wnt/β-catenin signaling [PDF]

, 2005
Background Secreted Frizzled related proteins (SFRPs) are extracellular regulators of Wnt signaling. These proteins contain an N-terminal cysteine rich domain (CRD) highly similar to the CRDs of the Frizzled family of seven-transmembrane proteins that ...
Medina Araceli, Katoh Masaru, Swain Rajeeb, Steinbeisser Herbert   +3 more
core   +1 more source

Analysis of carbohydrates and glycoconjugates by matrix‐assisted laser desorption/ionization mass spectrometry: An update for 2021–2022

Mass Spectrometry Reviews, Volume 44, Issue 3, Page 213-453, May/June 2025.
Abstract The use of matrix‐assisted laser desorption/ionization (MALDI) mass spectrometry for the analysis of carbohydrates and glycoconjugates is a well‐established technique and this review is the 12th update of the original article published in 1999 and brings coverage of the literature to the end of 2022.
David J. Harvey
wiley   +1 more source

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

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   +1 more source

BMP and TGFbeta pathways in human central chondrosarcoma: enhanced endoglin and Smad 1 signaling in high grade tumors [PDF]

, 2012
BACKGROUND: As major regulators of normal chondrogenesis, the bone morphogenic protein (BMP) and transforming growth factor β (TGFB) signaling pathways may be involved in the development and progression of central chondrosarcoma.
Anne-Marie Cleton-Jansen, Brendy van den Akker, Burkhard Lehner, Judith VMG Bovée, Maayke van Ruler, Stephane Boeuf, Wiltrud Richter   +6 more
core   +1 more source

Single Molecule Force Spectroscopy at Cell Surfaces to Study Physical Properties of Heparan Sulfate Chains and Protein‐Heparan Sulfate Interactions

Proteoglycan Research, Volume 3, Issue 1, January-March 2025.
ABSTRACT Heparins and heparan sulfates (HS) are highly sulfated glycosaminoglycans that contribute to various physiological and pathophysiological processes such as coagulation, signal transduction, and extracellular matrix organization. In addition to its use as an anticoagulant, HS is therefore considered a promising compound for various biomedical ...
Alexandra Grossdorf, Tobias Obser, Yuanyuan Wang, Christian Gorzelanny   +3 more
wiley   +1 more source