Results 11 to 20 of about 12,622 (181)

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   +5 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

Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses [PDF]

Orphanet Journal of Rare Diseases, 2021
Background Hereditary Multiple Exostoses (HME), also known as Multiple Osteochondromas (MO) is a rare genetic disorder characterized by multiple benign cartilaginous bone tumors, which are caused by mutations in the genes for exostosin ...
Zayed Al-Zayed, Roua A. Al-Rijjal, Lamya Al-Ghofaili, Huda A. BinEssa, Rajeev Pant, Anwar Alrabiah, Thamer Al-Hussainan, Minjing Zou, Brian F. Meyer, Yufei Shi   +9 more
doaj   +3 more sources

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   +3 more sources

Primary Membranous Nephropathy With Enhanced Staining of Exostosin 1/Exostosin 2 in the Glomeruli: A Report of 2 Cases

Kidney Medicine, 2021
Technological advances have allowed the discovery of 6 subtypes of membranous nephropathy based on target antigens: M-type phospholipase A2 receptor (PLA2R), thrombospondin type 1 domain-containing 7A (THSD7A), neural epidermal growth factor-like 1 ...
Takamasa Iwakura, Chiemi Ema, Taichi Sato, Shinsuke Isobe, Tomoyuki Fujikura, Naro Ohashi, Akihiko Kato, Hideo Yasuda   +7 more
doaj   +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

Mice deficient in Ext2 lack heparan sulfate and develop exostoses [PDF]

Development, 2005
Hereditary multiple exostoses (HME) is a genetically heterogeneous human disease characterized by the development of bony outgrowths near the ends of long bones. HME results from mutations in EXT1 and EXT2,genes that encode glycosyltransferases that synthesize heparan sulfate chains. To study the relationship of the disease to mutations in these genes,
Dominique, Stickens, Beverly M, Zak, Nathalie, Rougier, Jeffrey D, Esko, Zena, Werb   +4 more
openaire   +2 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

Linear spaces of matrices of constant rank and instanton bundles [PDF]

, 2013
We present a new method to study 4-dimensional linear spaces of skew-symmetric matrices of constant co-rank 2, based on rank 2 vector bundles on P^3 and derived category tools.
Ada Boralevi, Atiyah, Beĭlinson, Costa, Căldăraru, Daniele Faenzi, Decker, DʼAlmeida, Eisenbud, Emilia Mezzetti, Fania, Gelfand, Grayson, Hartshorne, Hartshorne, Hartshorne, Hartshorne, Huybrechts, Ilic, Kapranov, Mac Lane, Manivel, Newstead, Rahavandrainy, Sierra, Sylvester, Westwick, Westwick   +27 more
core   +3 more sources

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