[HTML][HTML] Hereditary multiple exostoses—a review of the molecular background, diagnostics, and potential therapeutic strategies
E Bukowska-Olech, W Trzebiatowska, W Czech… - Frontiers in …, 2021 - frontiersin.org
Hereditary multiple exostoses (HMEs) syndrome, also known as multiple osteochondromas,
represents a rare and severe human skeletal disorder. The disease is characterized by …
represents a rare and severe human skeletal disorder. The disease is characterized by …
[HTML][HTML] Hereditary multiple osteochondromas
W Wuyts, GA Schmale, HA Chansky, WH Raskind - 2020 - europepmc.org
Hereditary multiple osteochondromas (HMO), previously called hereditary multiple
exostoses (HME), is characterized by growths of multiple osteochondromas, benign …
exostoses (HME), is characterized by growths of multiple osteochondromas, benign …
[HTML][HTML] The structure of EXTL3 helps to explain the different roles of bi-domain exostosins in heparan sulfate synthesis
Heparan sulfate is a highly modified O-linked glycan that performs diverse physiological
roles in animal tissues. Though quickly modified, it is initially synthesised as a …
roles in animal tissues. Though quickly modified, it is initially synthesised as a …
[HTML][HTML] 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 …
glycosylation disorder (EXT1/EXT2-CDG), can be associated with a reduction in skeletal …
The Missing Piece of the Puzzle: Unveiling the Role of PTPN11 Gene in Multiple Osteochondromas in a Large Cohort Study
A Borovikov, N Galeeva, A Marakhonov… - Human …, 2024 - Wiley Online Library
This study is aimed at investigating the clinical and genetic characteristics of 244 unrelated
probands diagnosed with multiple osteochondromas (MO). The diagnosis of MO typically …
probands diagnosed with multiple osteochondromas (MO). The diagnosis of MO typically …
Congenital disorders of glycosylation, dolichol and glycosylphosphatidylinositol metabolism
J Jaeken, E Morava - Inborn Metabolic Diseases: Diagnosis and …, 2022 - Springer
Numerous proteins are glycosylated with monosaccharides and/or oligosaccharide
structures, also termed glycans, attached to the polypeptide chain. Most extracellular …
structures, also termed glycans, attached to the polypeptide chain. Most extracellular …
[HTML][HTML] Genetic analysis of seven pateints with Hereditary Multiple Osteochondromas (HMO)
Z Ren, JY Yuan, J Zhang, Y Tan, WQ Chen… - American Journal of …, 2022 - ncbi.nlm.nih.gov
Background: HMO (Hereditary Multiple Osteochondroma), an uncommon autosomal
dominant disorder, is characterized by the development of multiple osteochondromas, which …
dominant disorder, is characterized by the development of multiple osteochondromas, which …
[HTML][HTML] EXT1 and EXT2 Variants in 22 Chinese Families With Multiple Osteochondromas: Seven New Variants and Potentiation of Preimplantation Genetic Testing …
Y Wang, L Zhong, Y Xu, L Ding, Y Ji, S Schutz… - Frontiers in …, 2020 - frontiersin.org
Multiple osteochondromas (MO), the most common type of benign bone tumor, is an
autosomal dominant skeletal disorder characterized by multiple cartilage-capped bony …
autosomal dominant skeletal disorder characterized by multiple cartilage-capped bony …
A frameshift variant in the EXT1 gene in a feline leukemia virus‐negative cat with osteochondromatosis
Y Fujii, A Uno, S Takitani, R Iwasaki… - Animal …, 2022 - Wiley Online Library
Osteochondromatosis is a benign proliferative disorder characterized by cartilage‐capped
bony protuberances. In humans and most mammals, variants in the EXT1 or EXT2 gene are …
bony protuberances. In humans and most mammals, variants in the EXT1 or EXT2 gene are …
[HTML][HTML] Hereditary multiple osteochondromas in Jordanian patients: Mutational and immunohistochemical analysis of EXT1 and EXT2 genes
The aim of the present study was to investigate the molecular characteristics of hereditary
multiple osteochondromas (HMO) in a subset of Jordanian patients with a focus on the …
multiple osteochondromas (HMO) in a subset of Jordanian patients with a focus on the …