Results 81 to 90 of about 3,991 (155)
Mutation Screening of the EXT1 and EXT2 Genes in Patients with Hereditary Multiple Exostoses
The American Journal of Human Genetics, 1997 Hereditary multiple exostoses (HME), the most frequent of all skeletal dysplasias, is an autosomal dominant disorder characterized by the presence of multiple exostoses localized mainly at the end of long bones. HME is genetically heterogeneous, with at least three loci, on 8q24.1 (EXT1), 11p11-p13 (EXT2), and 19p (EXT3).
Philippe, Christophe +6 more
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Hereditary Multiple Exostoses: A Narrative Review of Clinical Spectrum, Molecular Pathogenesis, Diagnostic Advances, and Emerging Therapeutic Approaches [PDF]
Journal of Clinical and Diagnostic ResearchHereditary Multiple Exostoses (HME), also known as multiple osteochondromas, is a rare autosomal dominant skeletal disorder characterised by multiple benign cartilage-capped bony outgrowths that develop along the metaphyses of long and flat bones ...
Shashank Yadav +4 more
doaj +1 more source
Zhongshan Daxue xuebao. Yixue kexue ban, 2011 【目的】研究EXT1与EXT2基因在我国南方正常人及致病性突变已明确的遗传性多发性骨软骨瘤病人中的多态性。【方法】 选取50例中国南方健康汉族个体及13例致病突变已明确的遗传性多发性骨软骨瘤病人，提取基因组DNA，对包含5’UTR区、编码区、外显子-内含子交界区及3’UTR区的PCR产物进行直接测序。 鉴定基因内的遗传变异，并将结果和国际数据库中的数据进行对比。【结果】 在所有研究对象中共发现15个不同的EXT1基因的单核苷酸多态性(SNPs)：3个在编码区，为同义突变，11个在内含子区，1个在3 ...
doaj
EXT1 and EXT2 regulate chondrogenesis by modulation of WNT signaling [PDF]
Osteoarthritis and Cartilage, 2018 X. Wang, S. Monteagudo, R. Lories
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Identification of a new mutation in an Iranian family with hereditary multiple osteochondromas
Therapeutics and Clinical Risk Management, 2016 Susan Akbaroghli,1,* Maryam Balali,2,* Behnam Kamalidehghan,3,4 Siamak Saber,4 Omid Aryani,5 Goh Yong Meng,6 Massoud Houshmand4 1Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, 2ENT and Head & Neck Research Center ...
Akbaroghli S +6 more
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Tracing ext3 file system operations in the QEMU emulator
Труды Института системного программирования РАН, 2018 The paper proposes an approach to monitoring file operations through capturing virtual disk accesses in the emulator. This method allows obtaining information about file operations in the OS-agnostic manner but requires a separate implementation for each
V. M. Stepanov +2 more
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Multi-Omics and Single-Cell Dissection of Exostosin Glycosyltransferases (EXT1/EXT2) Reveals Divergent Oncogenic Roles and Therapeutic Vulnerabilities in Gliomas. [PDF]
J CancerChiang YC +24 more
europepmc +1 more source