Results 131 to 140 of about 3,263 (170)

Whole-Exome Sequencing Analysis of Inflammatory Bowel Disease-Associated Serrated Dysplasia. [PDF]

Int J Mol Sci
Balajthy Z, Almási S, Lantos T, Kuthi L, Deftereos G, Choi WT, Sejben A.   +6 more
europepmc   +1 more source

Mutations in the EXT1 and EXT2 Genes in Hereditary Multiple Exostoses [PDF]

American Journal of Human Genetics, 1998
Hereditary multiple exostoses (EXT; MIM 133700) is an autosomal dominant bone disorder characterized by the presence of multiple benign cartilage-capped tumors (exostoses). Besides suffering complications caused by the pressure of these exostoses on the surrounding tissues, EXT patients are at an increased risk for malignant chondrosarcoma, which may ...
Geert Mortier, Bert Bakker, Ugo Pazzaglia   +2 more
exaly   +6 more sources

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Obesity induced Ext1 reduction mediates the occurrence of NAFLD

Biochemical and Biophysical Research Communications, 2022
Non-alcoholic fatty liver disease (NAFLD) is the most common liver disorder with intricate etiology. It is closely associated with metabolic syndrome, insulin resistance and endoplasmic reticulum (ER) stress. Exostosin1 (Ext1) is an ER-resident transmembrane glycosyltransferase, which plays an important role in ER homeostasis.
Jin Liang
exaly   +3 more sources

Disruption of Gastrulation and Heparan Sulfate Biosynthesis in EXT1-Deficient Mice

Developmental Biology, 2000
Mutations in the EXT1 gene are responsible for human hereditary multiple exostosis type 1. The Drosophila EXT1 homologue, tout-velu, regulates Hedgehog diffusion and signaling, which play an important role in tissue patterning during both invertebrate and vertebrate development.
Jeffrey Esko, Martin Matzuk, Dan E Wells   +2 more
exaly   +3 more sources

Clinical and molecular studies of EXT1/EXT2 in Bulgaria

Journal of Inherited Metabolic Disease, 2011
AbstractEXT1/EXT2‐CDG (Multiple cartilagineous exostoses, hereditary multiple osteochondroma (MO); OMIM 133700/133701) are common defects of O‐xylosylglycan glycosylation. The diagnostic criteria are at least two osteochondromas of the juxta‐epiphyseal region of long bones with in the majority of cases a positive family history and/or mutation in one ...
Stancheva-Ivanova, Malina Kirilova, Wuyts, Wim, van Hul, Els, Radeva, Briguita Ivanova, Vazharova, Radoslava Vasileva, Sokolov, Todor Petrov, Vladimirov, Borislav Yordanov, Apostolova, Margarita Dimitrova, Kremensky, Ivo Marinov   +8 more
openaire   +3 more sources

A Novel EXT1 Mutation Identified in a Family with Multiple Osteochondromas

Genetic Testing and Molecular Biomarkers, 2019
Multiple exostoses (MO), also referred to as hereditary multiple exostoses (HME), is an autosomal dominant inherited skeletal disorder that has been found to be associated with mutations in the EXT1 and EXT2 genes. In the present study, we report a Chinese family with HME and our mutational analyses of the EXT1 and EXT2 genes in affected and unaffected
Mingxiang Kong
exaly   +3 more sources

Identification and functional characterization of the human EXT1 promoter region

Gene, 2012
Mutations in Exostosin-1 (EXT1) or Exostosin-2 (EXT2) cause the autosomal dominant disorder multiple osteochondromas (MO). This disease is mainly characterized by the appearance of multiple cartilage-capped protuberances arising from children's metaphyses and is known to display clinical inter- and intrafamilial variations. EXT1 and EXT2 are both tumor
Jennes, Ivy, Zuntini, Monia, Mees, Kirsten, Palagani, Ajay, Pedrini, Elena, De Cock, Greet, Fransen, Erik, Vanden Berghe, Wim, Sangiorgi, Luca, Wuyts, Wim   +9 more
openaire   +3 more sources

Identification of the Xenopus laevis cDNA for EXT1: A Phylogenetic Perspective

DNA Sequence, 2002
The EXT family of genes is involved in the developmentally important biosynthesis of heparan sulfate molecules. Members of the EXT family have a demonstrated role in gastrulation, wing formation in flies, and proper bone development in vertebrates. EXT family members have been isolated from several phylogenetically diverse species.
A L, Hill, N, Brown, M S, Hill, D E, Wells   +3 more
openaire   +2 more sources