Results 151 to 160 of about 12,622 (181)

The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes

Nature Genetics, 1996
Hereditary multiple exostoses (EXT) is an autosomal dominant condition characterized by short stature and the development of bony protuberances at the ends of all the long bones. Three genetic locl have been identified by genetic linkage analysis at chromosomes 8q24.1, 11p11-13 and 19p.
Michael Lovett
exaly   +3 more sources

Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes

Human Mutation, 2000
Hereditary multiple exostoses (EXT) is an autosomal dominant disorder characterized by the formation of exostoses, which are cartilage-capped bony protuberances mainly located on long bones. Two genes, EXT1 and EXT2, and at least one other unidentified gene, are known to be involved in the formation of exostoses.
Wim Wuyts, Wim Van Hul
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

Familial solitary chondrosarcoma resulting from germline EXT2 mutation

Genes, Chromosomes and Cancer, 2016
Germline mutations of EXT2, encoding Exostosin Glycosyltransferase 2, are associated with multiple osteochondromas (MO), an autosomal dominant disease characterized by the development of multiple peripheral cartilaginous benign tumors with a weak risk of malignant transformation.
Abdelkader Heddar, Pierre Fermey, Sophie Coutant, Emilie Angot, Jean‐Christophe Sabourin, Paul Michelin, Nathalie Parodi, Françoise Charbonnier, Myriam Vezain, Gaëlle Bougeard, Stéphanie Baert‐Desurmont, Thierry Frébourg, Isabelle Tournier   +12 more
openaire   +3 more sources

Gene expression of EXT1 and EXT2 during mouse brain development

Developmental Brain Research, 2003
Heparan sulfate (HS) and heparan sulfate proteoglycans (HSPGs) play significant roles in various biological processes. There is a wealth of circumstantial and experimental evidence suggesting the roles of HS in mammalian neural development. HS synthesis is governed by a series of enzymes.
Masaru, Inatani, Yu, Yamaguchi
openaire   +2 more sources

Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas [PDF]

Human Mutation, 2005
We describe the results of an optimised DHPLC-based mutation screening of the EXT1 and EXT2 genes in Italian patients affected by multiple osteochondromas [MO; also referred to as hereditary multiple exostoses (HME) in the literature], using a multistep approach.
Elena Pedrini, Alessandro De Luca, Marina Mordenti   +2 more
exaly   +6 more sources

Improved deleted file recovery technique for Ext2/3 filesystem

The Journal of Supercomputing, 2014
Digital devices are increasingly being used in various crimes, and therefore, it becomes important for law enforcement agencies to be able to investigate and analyze digital devices. Accordingly, there is an increasing demand for digital forensic technologies which can recover the data concealed or deleted by criminals that are of prime importance ...
Seokjun Lee, Taeshik Shon
openaire   +1 more source

The EXT1/EXT2 tumor suppressors: catalytic activities and role in heparan sulfate biosynthesis [PDF]

EMBO Reports, 2000
The D‐glucuronyltransferase and N‐acetyl‐D‐glucosaminyltransferase reactions in heparan sulfate biosynthesis have been associated with two genes, EXT1 and EXT2, which are also implicated in the inherited bone disorder, multiple exostoses. Since the cell systems used to express recombinant EXT proteins synthesize endogenous heparan sulfate, and the EXT ...
Thomas Lind, Hiroshi Kitagawa, Kazuyuki Sugahara   +2 more
exaly   +3 more sources

EXT2-positive multiple hereditary osteochondromas with some features suggestive of metachondromatosis

Skeletal Radiology, 2011
Metachondromatosis (MC) and hereditary multiple osteochondromas (HMO) are thought to be distinct disorders, each with characteristic x-ray and clinical features. Radiographic differences are the current mainstay of differential diagnosis. Both disorders are autosomal dominant, but the majority of patients with HMO have mutations in EXT-1 or EXT 2 genes.
Neil C, Vining, Stephen, Done, Ian A, Glass, Shawn E, Parnell, Darci L, Sternen, Kathleen A, Leppig, Vincent S, Mosca, Michael J, Goldberg   +7 more
openaire   +2 more sources

EXT2 File System

2018
This chapter covers EXT2 file system. The goal of this chapter is to lead the reader to implement a complete EXT2 file system that is totally Linux compatible. The premise is that if the reader understands one file system well, it should be easy to adapt to any other file systems.
openaire   +1 more source