Results 11 to 20 of about 4,149 (173)

Regulation of zebrafish skeletogenesis by ext2/dackel and papst1/pinscher. [PDF]

PLoS Genetics, 2008
Mutations in human Exostosin genes (EXTs) confer a disease called Hereditary Multiple Exostoses (HME) that affects 1 in 50,000 among the general population. Patients with HME have a short stature and develop osteochondromas during childhood. Here we show
Aurélie Clément, Malgorzata Wiweger, Sophia von der Hardt, Melissa A Rusch, Scott B Selleck, Chi-Bin Chien, Henry H Roehl   +6 more
doaj   +7 more sources

A splice mutation and mRNA decay of EXT2 provoke hereditary multiple exostoses.

PLoS ONE, 2014
BackgroundHereditary multiple exostoses (HME) is an autosomal dominant disease. The classical paradigm of mutation screening seeks to relate alterations in the exostosin glycosyltransferase genes, EXT1 and EXT2, which are responsible for over 70% of HME ...
Chen Tian, Rengna Yan, Shuzhen Wen, Xueling Li, Tianfeng Li, Zhenming Cai, Xinxiu Li, Hong Du, Huimei Chen   +8 more
doaj   +4 more sources

Structure of the human heparan sulfate polymerase complex EXT1-EXT2

Nature Communications, 2022
Heparan sulfates are long and complex polysaccharides that mediate a large number of biological processes at the cell surface. Here, the authors provide structural and functional insights into the human EXT1-EXT2 complex that carries out the ...
Francisco Leisico, Juneina Omeiri, Christine Le Narvor, Joël Beaudouin, Michael Hons, Daphna Fenel, Guy Schoehn, Yohann Couté, David Bonnaffé, Rabia Sadir, Hugues Lortat-Jacob, Rebekka Wild   +11 more
doaj   +5 more sources

Prevalence of neural epidermal growth factor-like 1- and exostosin 1/exostosin 2-associated membranous nephropathy: a single-center retrospective study in Japan

Scientific Reports, 2022
Membranous nephropathy (MN) is the leading cause of nephrotic syndrome in adults. We previously reported that the prevalence of phospholipase A2 receptor (PLA2R)- and thrombospondin type 1 domain containing 7A (THSD7A)-associated MN patients in Japan is ...
Takamasa Iwakura, Chiemi Ema, Shinsuke Isobe, Tomoyuki Fujikura, Naro Ohashi, Akihiko Kato, Hideo Yasuda   +6 more
doaj   +1 more source

HSPG-deficient zebrafish uncovers dental aspect of multiple osteochondromas.

PLoS ONE, 2012
Multiple Osteochondromas (MO; previously known as multiple hereditary exostosis) is an autosomal dominant genetic condition that is characterized by the formation of cartilaginous bone tumours (osteochondromas) at multiple sites in the skeleton ...
Malgorzata I Wiweger, Zhe Zhao, Richard J P van Merkesteyn, Henry H Roehl, Pancras C W Hogendoorn   +4 more
doaj   +1 more source

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

Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas [PDF]

Scientific Reports, 2013
Multiple osteochondromas is an autosomal dominant skeletal disorder characterized by the formation of multiple cartilage-capped tumours. Two causal genes have been identified, EXT1 and EXT2, which account for 65% and 30% of cases, respectively. We have undertaken a mutation analysis of the EXT1 and EXT2 genes in 39 unrelated Spanish patients, most of ...
P. Sarrión, A.Sangorrin, R. Urreizti, A. Delgado, R. Artuch, L. Martorell, J. Armstrong, J, Anton, F.Torner, M.A. Villaseca, J.Nevado, P.Lapunzina, C.G. Asteggiano, S. Balcells, D. Grinberg   +14 more
openaire   +6 more sources

Heparanase and Syndecan-4 Are Involved in Low Molecular Weight Fucoidan-Induced Angiogenesis

Marine Drugs, 2015
Induction of angiogenesis is a potential treatment for chronic ischemia. Low molecular weight fucoidan (LMWF), the sulfated polysaccharide from brown seaweeds, has been shown to promote revascularization in a rat limb ischemia, increasing angiogenesis ...
Oualid Haddad, Erwan Guyot, Nicolas Marinval, Fabien Chevalier, Loïc Maillard, Latifa Gadi, Christelle Laguillier-Morizot, Olivier Oudar, Angela Sutton, Nathalie Charnaux, Hanna Hlawaty   +10 more
doaj   +1 more source

Carriers of loss-of-function mutations in EXT display impaired pancreatic beta-cell reserve due to smaller pancreas volume. [PDF]

PLoS ONE, 2014
Exotosin (EXT) proteins are involved in the chain elongation step of heparan sulfate (HS) biosynthesis, which is intricately involved in organ development.
Sophie J Bernelot Moens, Hans L Mooij, H Carlijne Hassing, Janine K Kruit, Julia J Witjes, Michiel A J van de Sande, Aart J Nederveen, Ding Xu, Geesje M Dallinga-Thie, Jeffrey D Esko, Erik S G Stroes, Max Nieuwdorp   +11 more
doaj   +1 more source

Zebrafish Ext2 is necessary for Fgf and Wnt signaling, but not for Hh signaling [PDF]

BMC Developmental Biology, 2011
Abstract Background Heparan sulfate (HS) biosynthesis is tightly regulated during vertebrate embryo development. However, potential roles for HS biosynthesis in regulating the function of paracrine signaling molecules that bind to HS are incompletely understood. Results In
Fischer S, Filipek-Gorniok B, Ledin J
openaire   +4 more sources