Structure of the human heparan sulfate polymerase complex EXT1-EXT2 [PDF]
Nature Communications, 2022 Heparan sulfates are long and complex polysaccharides that mediate a large number of biological processes at the cell surface. Here, the authors provide structural and functional insights into the human EXT1-EXT2 complex that carries out the ...
Francisco Leisico +11 more
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Fibroblast EXT1-levels influence tumor cell proliferation and migration in composite spheroids. [PDF]
PLoS ONE, 2012 BACKGROUND: Stromal fibroblasts are important determinants of tumor cell behavior. They act to condition the tumor microenvironment, influence tumor growth, support tumor angiogenesis and affect tumor metastasis.
Cecilia Österholm +6 more
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Breakpoint characterization of large deletions in
BMC Medical Genetics, 2011 Background Osteochondromas (cartilage-capped bone tumors) are by far the most commonly treated of all primary benign bone tumors (50%). In 15% of cases, these tumors occur in the context of a hereditary syndrome called multiple osteochondromas (MO), an ...
Szuhai Karoly +5 more
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Stem Cell Research, 2021 Multiple Osteochondroma is an abnormal skeleton development autosomal dominant genetic disease which caused by the mutation of EXT1 gene. In this study, we generated induced pluripotent stem cells (iPSCs) from the mesenchymal stem cells (MSCs) of a 12 ...
Yazhou Cui +4 more
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Hereditary multiple osteochondromas in a child: a case report and discussion of postoperative complication management [PDF]
Frontiers in SurgeryBackgroundThe pathogenesis of hereditary multiple exostoses is mainly related to genetic variants and often requires surgical resection when it causes clinical symptoms.
Haiting Jia, Yuting Wang, Tao Liu
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Osteopoikilosis and multiple exostoses caused by novel mutations in
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 +7 more
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Hsa_Circ_0008035 drives immune evasion of gastric cancer via promoting EXT1-mediated nuclear translocation of PKM2 [PDF]
Translational OncologyCircular RNAs (circRNAs) have been reported to be associated with the malignant phenotypes of cancer. However, the role and underlying mechanism of hsa_Circ_0008035 in colorectal cancer (CRC) remains unclear. In this study, we elucidated the pivotal role
Rongqi Jiang +5 more
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Three Novel EXT1 and EXT2 Gene Mutations in Taiwanese Patients with Multiple Exostoses
Journal of the Formosan Medical Association, 2006 Multiple osteochondromatosis, also known as hereditary multiple exostoses (HME), is an inherited autoso-mal dominant disorder characterized by the presence of multiple exostoses on the long bones.
Wen-Chau Chen +3 more
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Cases report: Mosaic structural variants of the EXT1 gene in previously genetically unconfirmed multiple osteochondromas [PDF]
Frontiers in GeneticsMultiple osteochondromas (MO) is a rare autosomal dominant skeletal disorder characterized by the development of multiple benign tumors known as osteochondromas. The condition is predominantly caused by loss-of-function variants in the EXT1 or EXT2 genes,
Artem Borovikov +18 more
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