Results 21 to 30 of about 2,559 (174)

Three Novel EXT1 and EXT2 Gene Mutations in Taiwanese Patients with Multiple Exostoses

Journal of the Formosan Medical Association, 2006
Multiple osteochondromatosis, also known as hereditary multiple exostoses (HME), is an inherited autoso-mal dominant disorder characterized by the presence of multiple exostoses on the long bones.
Wen-Chau Chen, Chih-Hsien Chi, Chia-Chang Chuang, l-Ming Jou   +3 more
doaj   +1 more source

The glycosyltransferase EXTL2 promotes proteoglycan deposition and injurious neuroinflammation following demyelination

Journal of Neuroinflammation, 2020
Background Chondroitin sulfate proteoglycans (CSPGs) are potent inhibitors of axonal regrowth and remyelination. More recently, they have also been highlighted as a modulator of macrophage infiltration into the central nervous system in experimental ...
Annie Pu, Manoj K. Mishra, Yifei Dong, Samira Ghorbanigazar, Erin L. Stephenson, Khalil S. Rawji, Claudia Silva, Hiroshi Kitagawa, Stephen Sawcer, V. Wee Yong   +9 more
doaj   +1 more source

Update on New Antigens in the Pathogenesis of Membranous Nephropathy

European Medical Journal, 2022
Previously, membranous nephropathies were divided into primary and secondary categories when the exact mechanism or pathogenetic factor were unknown. Approximately 70% accounted for primary membranous nephropathies.
Maurizio Salvadori, Aris Tsalouchos
doaj   +1 more source

Targeted Next-Generation Sequencing Newly Identifies Mutations in Exostosin-1 and Exostosin-2 Genes of Patients with Multiple Osteochondromas.

The Tohoku journal of experimental medicine, 2018
Multiple osteochondromas (MO) is one of the most common benign bone tumors in humans with an autosomal dominant hereditary mode. MO is a genetic heterogeneity disease with variable number and size of osteochondromas, as well as changeable number and location of diseased bones.
Xiaoyan, Guo, Mingrui, Lin, Tengfei, Shi, Wei, Yan, Wenxu, Chen   +4 more
openaire   +3 more sources

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

EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay. [PDF]

, 2017
We studied three patients with severe skeletal dysplasia, T cell immunodeficiency, and developmental delay. Whole-exome sequencing revealed homozygous missense mutations affecting exostosin-like 3 (EXTL3), a glycosyltransferase involved in heparan ...
Bortolomai, I., Bosticardo, M., Brauer, P.M., Buoncompagni, A., Capuder, K., Di Rocco, M., Dobbs, K., Du, L., Felgentreff, K., Freedman, G., Giliani, S., Hagedorn, E.J., Hayashida, A., Hayashida, K., Imberti, L., Lee, H., Linhardt, R.J., Luche, N., Manis, J., Marcovecchio, G.E., Martini, A., Notarangelo, L.D., Ott de Bruin, L., Park, P.W., Poliani, P.L., Poulain, F.E., Puck, J.M., Rath, P., Rivolta, C., Rosenzweig, S.D., Royer-Bertrand, B., Slavotinek, A., Sun Kuehn, H., Superti-Furga, A., van Rooijen, E., Volpi, S., Yamazaki, Y., Zon, L., Zúñiga-Pflücker, J.C.   +38 more
core   +4 more sources

Mayo Clinic Consensus Report on Membranous Nephropathy: Proposal for a Novel Classification [PDF]

, 2023
Membranous nephropathy (MN) is a pattern of injury caused by autoantibodies binding to specific target antigens, with accumulation of immune complexes along the subepithelial region of glomerular basement membranes.
Roccatello, Dario
core   +4 more sources

Development of 'Redox Arrays' for identifying novel glutathionylated proteins in the secretome [PDF]

, 2015
Proteomics techniques for analysing the redox status of individual proteins in complex mixtures tend to identify the same proteins due to their high abundance.
Bottazzi, Barbara, Chan, Philippe, Ghezzi, Pietro, Hammouz, Raneem, Mullen, Lisa, Seavill, Miles, Vaudry, David   +6 more
core   +1 more source

Multiple Osteochondromas: Clinicopathological and Genetic Spectrum and Suggestions for Clinical Management

Hereditary Cancer in Clinical Practice, 2004
Multiple Osteochondromas is an autosomal dominant disorder characterised by the presence of multiple osteochondromas and a variety of orthopaedic deformities.
Hameetman Liesbeth, Bovée Judith VMG, Taminiau Antonie HM, Kroon Herman M, Hogendoorn Pancras CW   +4 more
doaj   +1 more source

Haploinsufficiency of EXT1 and Heparan Sulphate Deficiency Associated with Hereditary Multiple Exostoses in a Pakistani Family

Medicina, 2022
Background and Objectives: Hereditary multiple exostoses (HME) is a disease characterized by cartilage-capped bony protuberances at the site of growth plates of long bones.
Muhammad Ajmal, Hafsah Muhammad, Muhammad Nasir, Muhammad Shoaib, Salman Akbar Malik, Irfan Ullah   +5 more
doaj   +1 more source