Results 131 to 140 of about 4,149 (173)

Cell surface ribonucleoproteins cluster with heparan sulfate to regulate growth factor signaling

open access: yes
Chai P   +8 more
europepmc   +1 more source

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

open access: yesAmerican 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   +2 more
exaly   +6 more sources
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Methylation status of EXT1 and EXT2 promoters and two mutations of EXT2 in chondrosarcoma

Cancer Genetics and Cytogenetics, 2005
Germline mutation and functional loss of EXT1 or EXT2 are commonly found in multiple osteochondromas and predispose to the development of chondrosarcoma. Mutations of EXT1 and EXT2 have rarely been detected in sporadic secondary chondrosarcomas from osteochondroma; these frequently display loss of heterozygosity at the EXT1 and EXT2 loci, but primary ...
Takashi, Tsuchiya   +16 more
openaire   +2 more sources

ESB: Ext2 Split Block Device

2012 IEEE 18th International Conference on Parallel and Distributed Systems, 2012
Solid State Disks (SSDs) start to replace rotating media (hard disks, HDD) in many areas, but are still not as cost efficient concerning capacity to completely replace them. One approach to use their superior performance properties is to use them as a cache for magnetic disks to speed up overall storage operations.
Jürgen Kaiser   +3 more
openaire   +1 more source

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   +8 more
openaire   +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

EXT2 transition in adolescent membranous nephritis

Pediatric Nephrology
Membranous nephropathy (MN) is the cause of 3% of pediatric nephrotic syndrome, with increasing incidence in adolescents. It was historically divided into primary and secondary forms but is increasingly described by antigen. The direct clinical value of knowing the MN antigen often depends on the strength of association between antigen and various ...
Elizabeth Rackovan   +5 more
openaire   +2 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

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

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