S Martini, V Nair, SR Patel, F Eichinger, RG Nelson… - Diabetes, 2013 - Am Diabetes Assoc
Genome-wide association studies have proven to be highly effective at defining relationships between single nucleotide polymorphisms (SNPs) and clinical phenotypes in …
Background Multiple osteochondromas is a dysplasia characterized by growth of two or more osteochondromas. It is genetically heterogeneous, caused by pathogenic variants in …
S Caino, MA Cubilla, R Alba, MG Obregón, V Fano… - Genes, 2022 - mdpi.com
Multiple Osteochondromatosis (MO, MIM 133700 & 133701), an autosomal dominant O- glycosylation disorder (EXT1/EXT2-CDG), can be associated with a reduction in skeletal …
AS Sikora, M Delos, P Martinez… - Journal of Cellular …, 2016 - Wiley Online Library
Heparan sulfate (HS) is recognized as an important player in a wide range of dynamic steps of inflammatory reactions. Thereby, structural HS remodeling is likely to play an important …
MA Delgado, G Martinez-Domenech, P Sarrión… - Scientific reports, 2014 - nature.com
Multiple osteochondromatosis (MO), or EXT1/EXT2-CDG, is an autosomal dominant O- linked glycosylation disorder characterized by the formation of multiple cartilage-capped …
S Dong, Y Wu, S Yu, Y Yang, L Lu, S Fan - Medicine, 2018 - journals.lww.com
Abstract Exostosin-1 (EXT1) has been demonstrated to participate in the progression of many cancers. However, it has not been previously described in patients with hepatocellular …
Background Helicobacter pylori (H. pylori) infects nearly half of the world's population with a variation in incidence among different geographic regions. Genetic variants in the promoter …
Y Wu, X Xing, S Xu, H Ma, L Cao… - Journal of Orthopaedic …, 2013 - Wiley Online Library
Multiple osteochondromas (MO) is an autosomal dominant hereditary disorder caused by heterozygous germline mutations in the exostonsin‐1 (EXT1) or exostosin‐2 (EXT2) genes …
X Guo, S Chen, M Lin, Y Pan, N Liu… - Genetic Testing and …, 2021 - liebertpub.com
Background: Multiple osteochondroma (MO), an autosomal dominant genetic disease, is caused by heterozygous mutations in the EXT1 and EXT2 genes. Approximately 80% of …