Results 21 to 30 of about 12,622 (181)

Possible effects of EXT2 on mesenchymal differentiation - lessons from the zebrafish [PDF]

open access: yesOrphanet Journal of Rare Diseases, 2014
Mutations in the EXT genes disrupt polymerisation of heparan sulphates (HS) and lead to the development of osteochondroma, an isolated/sporadic- or a multifocal/hereditary cartilaginous bone tumour. Zebrafish (Danio rerio) is a very powerful animal model which has shown to present the same cartilage phenotype that is commonly seen in mice model and ...
Wiweger, M.I.   +4 more
openaire   +3 more sources

Cytoskeletal Abnormalities in Chondrocytes with EXT1 and EXT2 Mutations [PDF]

open access: yesJournal of Bone and Mineral Research, 2000
Abstract The EXT genes are a group of putative tumor suppressor genes that previously have been shown to participate in the development of hereditary multiple exostoses (HME), HME-associated and isolated chondrosarcomas. Two HME disease genes, EXT1 and EXT2, have been identified and are expressed ubiquitously.
M A, Bernard   +10 more
openaire   +2 more sources

Heparanase and Syndecan-4 Are Involved in Low Molecular Weight Fucoidan-Induced Angiogenesis

open access: yesMarine Drugs, 2015
Induction of angiogenesis is a potential treatment for chronic ischemia. Low molecular weight fucoidan (LMWF), the sulfated polysaccharide from brown seaweeds, has been shown to promote revascularization in a rat limb ischemia, increasing angiogenesis ...
Oualid Haddad   +10 more
doaj   +1 more source

Carriers of loss-of-function mutations in EXT display impaired pancreatic beta-cell reserve due to smaller pancreas volume. [PDF]

open access: yesPLoS ONE, 2014
Exotosin (EXT) proteins are involved in the chain elongation step of heparan sulfate (HS) biosynthesis, which is intricately involved in organ development.
Sophie J Bernelot Moens   +11 more
doaj   +1 more source

No correlation between the variants of exostosin 2 gene and type 2 diabetes in Burkina Faso population

open access: yesJournal of Public Health in Africa, 2020
Recent genome-wide association studies and replication analyses have reported the association of variants of the exostosin- 2 gene (EXT2) and risk of type 2 diabetes (T2D) in some populations, but not in others.
Serge Y. Ouedraogo   +13 more
doaj   +1 more source

Study of Drug Target Identification and Associated Molecular Mechanisms for the Therapeutic Activity and Hair Follicle Induction of Two Ashwagandha Extracts Having Differential Withanolide Constitutions

open access: yesJournal of Nutrition and Metabolism, 2023
Background. Ashwagandha extracts play a significant role in traditional Indian medicine to help treat a wide range of disorders from amnesia, erectile dysfunction, neurodegenerative and cardiovascular diseases, cancer, stress, anxiety, and many more ...
Franco Cavaleri   +4 more
doaj   +1 more source

Gedanken experiments for the determination of two-dimensional linear second gradient elasticity coefficients [PDF]

open access: yes, 2015
In the present paper, a two-dimensional solid consisting of a linear elastic isotropic material, for which the deformation energy depends on the second gradient of the displacement, is considered.
Andreaus, Ugo   +3 more
core   +1 more source

New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature Review

open access: yesBrain Sciences, 2020
Potocki-Shaffer syndrome (PSS) is a rare non-recurrent contiguous gene deletion syndrome involving chromosome 11p11.2. Current literature implies a minimal region with haploinsufficiency of three genes, ALX4 (parietal foramina), EXT2 (multiple exostoses),
Slavica Trajkova   +7 more
doaj   +1 more source

EXT2 (exostoses (multiple) 2) [PDF]

open access: yesAtlas of Genetics and Cytogenetics in Oncology and Haematology, 2011
Review on EXT2 (exostoses (multiple) 2), with data on DNA, on the protein encoded, and where the gene is implicated.
openaire   +2 more sources

Identification of Novel EXT Mutations in Patients with Hereditary Multiple Exostoses Using Whole‐Exome Sequencing

open access: yesOrthopaedic Surgery, 2020
Objective To find novel potential gene mutations other than EXT1 and EXT2 mutations, to expand the mutational spectrum of EXT and to explore the correlation between clinical outcome and genotype in patients with hereditary multiple exostoses (HME ...
Chao Liang   +4 more
doaj   +1 more source

Home - About - Disclaimer - Privacy