Results 61 to 70 of about 4,059 (184)

Histopathological features of condylar hyperplasia and condylar Osteochondroma: a comparison study

Orphanet Journal of Rare Diseases, 2019
Background Both mandibular condylar hyperplasia and condylar osteochondroma can lead to maxillofacial skeletal asymmetry and malocclusion, although they exhibit different biological behavior.
Jingshuang Yu, Tong Yang, Jiewen Dai, Xudong Wang   +3 more
doaj   +1 more source

Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively - coincidence within one family

BMC Medical Genetics, 2010
Background Osteopoikilosis is a rare autosomal dominant genetic disorder, characterised by the occurrence of the hyperostotic spots preferentially localized in the epiphyses and metaphyses of the long bones, and in the carpal and tarsal bones 1 ...
Horn Denise, Kolanczyk Mateusz, Jamsheer Aleksander, Baasanjav Sevjidmaa, Latos Tomasz, Hoffmann Katrin, Latos-Bielenska Anna, Mundlos Stefan   +7 more
doaj   +1 more source

Heterogeneity of Extracellular Vesicles and Non‐Vesicular Nanoparticles in Glioblastoma

Journal of Extracellular Vesicles, Volume 14, Issue 10, October 2025.
ABSTRACT It is increasingly clear that intercellular communication is largely mediated by lipid‐bilayer, membrane‐bound extracellular vesicles (EVs) and amembranous, non‐vesicular extracellular particles (NVEPs), including exomeres and the recently identified supermeres.
Tuoye Xu, Joao A. Paulo, Piyan Zhang, Xinyue Liu, Alya Nguyen, Yuanhua Cheng, Clark Massick, Yanhong Zhang, Dennis K. Jeppesen, Qin Zhang, James N. Higginbotham, Oleg S. Tutanov, Anna M. Krichevsky, Daniel T. Chiu, Steve P. Gygi, Kasey C. Vickers, Jeffrey L. Franklin, Robert J. Coffey, Al Charest   +18 more
wiley   +1 more source

An investigation of genetic polymorphisms in heparan sulfate proteoglycan core proteins and key modification enzymes in an Australian Caucasian multiple sclerosis population

Human Genomics, 2020
Multiple sclerosis (MS) is a chronic inflammatory demyelinating disease affecting the central nervous system in young adults. Heparan sulfate proteoglycans (HSPGs) are ubiquitous to the cell surface and the extracellular matrix.
Rachel K. Okolicsanyi, Julia Bluhm, Cassandra Miller, Lyn R. Griffiths, Larisa M. Haupt   +4 more
doaj   +1 more source

A Novel Pathogenic Large Duplication in EXT1 Identified in a Family with Multiple Osteochondromas. [PDF]

Genes (Basel)
Multiple osteochondromas (MO) is an autosomal dominant disorder and the most common genetic skeletal dysplasia, characterized by the growth of bone outgrowths capped by cartilage, called osteochondromas. Most MO cases are caused by mutations in the exostosin-1 (EXT1) and exostosin-2 (EXT2) genes.
Bartolotti I, Sobul K, Corsini S, Scognamiglio D, Moroni A, Gnoli M, Sangiorgi L, Pedrini E.   +7 more
europepmc   +3 more sources

The Pathophysiological Functions of Heparanases: From Evolution, Structural and Tissue‐Specific Perspectives

The FASEB Journal, Volume 39, Issue 17, 15 September 2025.
Heparanase 1 (HPSE1) and Heparanase 2 (HPSE2) exhibit opposing expression patterns and functions in pathological contexts, such as cancer. Here, we describe their specific expression in immune cells and their implications in skin diseases. Although they are structurally similar and considered to be ‘cousins’, we found no common ancestor and that HPSE2 ...
Elham Vahdatahar, Clément Daviaud, Hugo Main, Rachel Havret, Claire Debarnot, Laure Favot‐Laforge, Jean‐François Jégou, Ingrid Fruitier‐Arnaudin, Antoine Dufour, Romain Vivès, Franck Morel, Yves Bourne, Kévin Baranger   +12 more
wiley   +1 more source

A splice mutation and mRNA decay of EXT2 provoke hereditary multiple exostoses.

PLoS ONE, 2014
BackgroundHereditary multiple exostoses (HME) is an autosomal dominant disease. The classical paradigm of mutation screening seeks to relate alterations in the exostosin glycosyltransferase genes, EXT1 and EXT2, which are responsible for over 70% of HME ...
Chen Tian, Rengna Yan, Shuzhen Wen, Xueling Li, Tianfeng Li, Zhenming Cai, Xinxiu Li, Hong Du, Huimei Chen   +8 more
doaj   +1 more source

Maximizing Efficacy of Cancer Nanovaccines and Immune Cells Landscape in Responders and Non‐Responders to Immunotherapy

Advanced Science, Volume 12, Issue 35, September 18, 2025.
To maximize the efficacy of cancer vaccines, adjuvants, collection, lysis, purification, oxidation, loading sites, and sizes, etc., are investigated. The optimized cancer nanovaccines loading whole tumor antigens can cure all or most tumor‐bearing mice in multiple mouse cancer models.
Xiangxiang Xu, Lu Diao, Jin Wang, Ao Zhu, Xianlan Chen, Yan Zheng, Yuhan Liu, Kang Hu, Jiashan Zhu, Cheng Ding, Chang Li, Yunzhi Pan, Jun Zhao, Mi Liu   +13 more
wiley   +1 more source

Abnormal sodium and water homeostasis in mice with defective heparan sulfate polymerization.

PLoS ONE, 2019
Glycosaminoglycans in the skin interstitium and endothelial surface layer have been shown to be involved in local sodium accumulation without commensurate water retention. Dysfunction of heparan sulfate glycosaminoglycans may therefore disrupt sodium and
Rik H G Olde Engberink, Judith de Vos, Angela van Weert, Yahua Zhang, Naomi van Vlies, Bert-Jan H van den Born, Jens M Titze, Ed van Bavel, Liffert Vogt   +8 more
doaj   +1 more source

Recurrent Somatic Copy Number Alterations and Their Association with Oncogene Expression Levels in High-Grade Ovarian Serous Carcinoma

Life, 2023
Somatic copy number alterations (SCNAs) are frequently observed in high-grade ovarian serous carcinoma (HGOSC). However, their impact on gene expression levels has not been systematically assessed.
Hillary P. Esplen, Richard K. Yang, Awdhesh Kalia, Zhenya Tang, Guilin Tang, L. Jeffrey Medeiros, Gokce A. Toruner   +6 more
doaj   +1 more source