Results 41 to 50 of about 3,833 (199)

Exome sequencing and functional analysis identifies a novel mutation in EXT1 gene that causes multiple osteochondromas. [PDF]

PLoS ONE, 2013
Multiple osteochondromas (MO) is an inherited skeletal disorder, and the molecular mechanism of MO remains elusive. Exome sequencing has high chromosomal coverage and accuracy, and has recently been successfully used to identify pathogenic gene mutations.
Feng Zhang, Jinlong Liang, Xiong Guo, Yingang Zhang, Yan Wen, Qiang Li, Zengtie Zhang, Weijuan Ma, Lanlan Dai, Xuanzhu Liu, Ling Yang, Jun Wang, Jun Wang   +12 more
doaj   +1 more source

Contribution of EXT1, EXT2, and EXTL3 to Heparan Sulfate Chain Elongation [PDF]

Journal of Biological Chemistry, 2007
The exostosin (EXT) family of genes encodes glycosyltransferases involved in heparan sulfate biosynthesis. Five human members of this family have been cloned to date: EXT1, EXT2, EXTL1, EXTL2, and EXTL3. EXT1 and EXT2 are believed to form a Golgi-located hetero-oligomeric complex that catalyzes the chain elongation step in heparan sulfate biosynthesis,
Marta, Busse, Almir, Feta, Jenny, Presto, Maria, Wilén, Mona, Grønning, Lena, Kjellén, Marion, Kusche-Gullberg   +6 more
openaire   +2 more sources

EXT1-dependent lipidomics, glycomics, and proteomics

, 2020
Comparison between lipid species (Table S5), N- and O-glycans (Table S2), and peptides (Table S4) isolated from Endoplasmic reticulum membranes of EXT1 knock-down and control HeLa cells. Proteins identified by mass spectrometry, as partners of EXT1 in ER
Twizere, J (via Mendeley Data)
core   +1 more source

Proteomic Analysis of Complement Proteins in Membranous Nephropathy

Kidney International Reports, 2020
Introduction: Membranous nephropathy (MN) is the most common cause of nephrotic syndrome in Caucasian adults. Phospholipase A2 receptor (PLA2R)– and exostosin 1 (EXT1)/exostosin 2 (EXT2)–associated MN represent the most common primary and secondary forms
Aishwarya Ravindran, Benjamin Madden, M. Cristine Charlesworth, Rishi Sharma, Amit Sethi, Hanna Debiec, Daniel Cattran, Fernando C. Fervenza, Richard J. Smith, Pierre Ronco, Sanjeev Sethi   +10 more
doaj   +1 more source

Deletion of exon 8 from the EXT1 gene causes multiple osteochondromas (MO) in a family with three affected members. [PDF]

, 2016
Multiple osteochondromas (also called hereditary multiple exostoses) is an autosomal dominant disorder characterized by multiple cartilaginous tumors, which are caused by mutations in the genes for exostosin-1 (EXT1) and exostosin-2 (EXT2).
Stefan Kuchen, Simon D. Gerber, Peter M. Villiger, Kuchen, Stefan, Villiger, Peter, Lei Zhuang, Zhuang, Lei, Trueb, Beat, Gerber, Simon D, Beat Trueb   +9 more
core   +1 more source

Genomic Organization and Promoter Structure of the Human EXT1 Gene

Genomics, 1997
Hereditary predisposition to multiple exostoses is a genetically heterogeneous disease. Recently, we have reported the identification of the EXT1 gene on human chromosome 8. We have now isolated a cDNA clone from a human adult lung cDNA library and have determined the genomic organization and promoter structure of the EXT1 gene. The gene is composed of
H J, Lüdecke, J, Ahn, X, Lin, A, Hill, M J, Wagner, L, Schomburg, B, Horsthemke, D E, Wells   +7 more
openaire   +2 more sources

A mouse model of osteochondromagenesis from clonal inactivation of Ext1 in chondrocytes [PDF]

Proceedings of the National Academy of Sciences, 2010
We report a mouse model of multiple osteochondromas (MO), an autosomal dominant disease in humans, also known as multiple hereditary exostoses (MHE or HME) and characterized by the formation of cartilage-capped osseous growths projecting from the metaphyses of endochondral bones.
Jones, Kevin B., Piombo, Virginia, Searby, Charles, Kurriger, Gail, Yang, Baoli, Grabellus, Florian, Roughley, Peter J., Morcuende, Jose A., Buckwalter, Joseph A., Capecchi, Mario R., Vortkamp, Andrea, Sheffield, Val C.   +11 more
openaire   +3 more sources

Cytoskeletal Abnormalities in Chondrocytes with EXT1 and EXT2 Mutations [PDF]

Journal of Bone and Mineral Research, 2000
Abstract The EXT genes are a group of putative tumor suppressor genes that previously have been shown to participate in the development of hereditary multiple exostoses (HME), HME-associated and isolated chondrosarcomas. Two HME disease genes, EXT1 and EXT2, have been identified and are expressed ubiquitously.
M A, Bernard, D A, Hogue, W G, Cole, T, Sanford, M B, Snuggs, D, Montufar-Solis, P J, Duke, D D, Carson, A, Scott, W B, Van Winkle, J T, Hecht   +10 more
openaire   +2 more sources

Dynamics of Lnp1, ATL1 and a luminal ER marker in cells depleted for EXT1

, 2020
Dynamics of Lnp1 in control Cos7 cells Dynamics of Lnp1 in EXT1 k.d. Cos7 cells Dynamics of ATL1 in control Cos7 cells Dynamics of ATL1 in EXT1 k.d. Cos7 cells Photoactivation of the PA-KDEL-GFP marker in control Cos7 cells Photoactivation of the PA-KDEL-
Twizere, J
core   +2 more sources

Identification of Novel EXT Mutations in Patients with Hereditary Multiple Exostoses Using Whole‐Exome Sequencing

Orthopaedic Surgery, 2020
Objective To find novel potential gene mutations other than EXT1 and EXT2 mutations, to expand the mutational spectrum of EXT and to explore the correlation between clinical outcome and genotype in patients with hereditary multiple exostoses (HME ...
Chao Liang, Yong‐jie Wang, Yu‐xuan Wei, Yang Dong, Zhi‐chang Zhang   +4 more
doaj   +1 more source