Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas

P Sarrión, A Sangorrin, R Urreizti, A Delgado… - Scientific Reports, 2013 - nature.com
Multiple osteochondromas is an autosomal dominant skeletal disorder characterized by the
formation of multiple cartilage-capped tumours. Two causal genes have been identified …

From Single Nucleotide Polymorphism to Transcriptional Mechanism: A Model for FRMD3 in Diabetic Nephropathy

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 …

Analysis of mutations in EXT1 and EXT2 in Brazilian patients with multiple osteochondromas

SCL Santos, IMPO Rizzo, RI Takata… - … Genetics & Genomic …, 2018 - Wiley Online Library
Background Multiple osteochondromas is a dysplasia characterized by growth of two or
more osteochondromas. It is genetically heterogeneous, caused by pathogenic variants in …

Clinical and genetic analysis of multiple osteochondromas in a cohort of argentine patients

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 …

Regulation of the Expression of Heparan Sulfate 3‐O‐Sulfotransferase 3B (HS3ST3B) by Inflammatory Stimuli in Human Monocytes

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 …

A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG

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 …

Increased EXT1 gene copy number correlates with increased mRNA level predicts short disease-free survival in hepatocellular carcinoma without vascular invasion

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 …

First insights into the molecular basis association between promoter polymorphisms of the IL1B gene and Helicobacter pylori infection in the Sudanese population …

AB Idris, EB Idris, AE Ataelmanan, AEA Mohamed… - BMC microbiology, 2021 - Springer
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 …

Novel and recurrent mutations in the EXT1 and EXT2 genes in Chinese kindreds with multiple osteochondromas

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 …

A Novel Intronic Splicing Mutation in the EXT2 Gene of a Chinese Family with Multiple Osteochondroma

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 …