Results 61 to 70 of about 12,622 (181)
Hereditary Multiple Exostoses: Genetic, Radiologic, and Oncologic Insights from Twenty-one Patients
Acta Haematologica Oncologica TurcicaAim: To characterize the clinical, radiological, and genetic features of genetically confirmed hereditary multiple exostoses (HME) in patients presenting with multiple exostoses and to contribute to the understanding of the phenotypic and genotypic ...
Abdulkerim Kolkıran +8 more
doaj +1 more source
A genotype-phenotype study of hereditary multiple exostoses in forty-six Chinese patients
BMC Medical Genetics, 2017 Background Hereditary multiple exostoses (HME) is a rare autosomal dominant skeletal disorder that can cause a variety of clinical manifestations.
Yuchan Li +4 more
doaj +1 more source
Hereditary Multiple Exostoses: Clinical, Molecular and Radiologic Survey in 9 Families
Prague Medical Report, 2017 Hereditary multiple exostoses (HME) represents a heterogeneous group of diseases often associated with progressive skeletal deformities. Most frequently, mutations in EXT1 and EXT2 genes with autosomal dominant inheritance are responsible for HME. In our
Karel Medek +9 more
doaj +1 more source
Hepatic heparan sulfate is a master regulator of hepcidin expression and iron homeostasis in human hepatocytes and mice. [PDF]
, 2019 Hepcidin is a liver-derived peptide hormone that controls systemic iron homeostasis. Its expression is regulated by the bone morphogenetic protein 6 (BMP6)/SMAD1/5/8 pathway and by the proinflammatory cytokine interleukin 6 (IL6).
Anower-E-Khuda, Ferdous +8 more
core
Cancer Medicine, Volume 15, Issue 1, January 2026.ABSTRACT Background Colorectal cancer (CRC) isthe third most common cancer and the second leading cause of cancer‐relateddeath worldwide. Its genetic heterogeneity complicates treatment. This studyaimed to compare clinicopathological, molecular, and prognostic factors betweenleft‐sided (LCC) and right‐sided (RCC) CRC.
Wenlei Zhao +9 more
wiley +1 more source
Novel mutation of EXT2 identified in a large family with multiple osteochondromas
Molecular Medicine Reports, 2016 Multiple osteochondromas (MO), also known as hereditary multiple exostoses, is an autosomal dominant bone disorder. Mutations in exostosin glycosyl transferase‑1 (EXT1) and exostosin glycosyl transferase‑2 (EXT2), including missense, nonsense, frameshift and splice‑site mutations, account for up to 80% of reported cases. The proteins EXT1 and EXT2 form
Chen, Xiao-Jun +4 more
openaire +3 more sources
Torsion free instanton sheaves on the blow-up of $\mathbb{P}^{3}$ at a point
, 2021 We consider an extension of the instanton bundles definition, given by Casnati-Coskun-Genk-Malaspina, for Fano threefolds, in order to include non locally-free ones on the blow-up $\widetilde{\mathbb{P}^{3}},$ of the projective $3-$space at a point. With
Henni, Abdelmoubine Amar
core
MMP2 Sheds Glypican‐4 to Suppress Slit3‐Robo4 Signaling and Angiogenesis
Proteoglycan Research, Volume 4, Issue 1, January 2026.ABSTRACT Axon guidance molecules, initially identified for their roles in neural development, are now recognized as crucial regulators of angiogenesis and blood vessel patterning. Among these, Slit3 promotes endothelial cell migration, proliferation, and vascular network formation by signaling through the endothelial‐specific receptor Robo4.
Wenyuan Xiao +5 more
wiley +1 more source
Frontiers in Genetics, 2021 Hereditary multiple exostoses (HMEs) syndrome, also known as multiple osteochondromas, represents a rare and severe human skeletal disorder. The disease is characterized by multiple benign cartilage-capped bony outgrowths, termed exostoses or ...
Ewelina Bukowska-Olech +9 more
doaj +1 more source
Moduli spaces of vector bundles on a singular rational ruled surface
, 2015 We study moduli spaces $M_X(r,c_1,c_2)$ parametrizing slope semistable vector bundles of rank $r$ and fixed Chern classes $c_1, c_2$ on a ruled surface whose base is a rational nodal curve.
Bhosle, Usha N., Biswas, Indranil
core +1 more source