Results 21 to 30 of about 4,149 (184)

Alelo doble mutante en el gen EXT1 no informado previamente en una adolescente con exostosis múltiple hereditaria

Journal of Inherited Metabolic Disease, 2015
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 ...
Francisco Cammarata‐Scalisi, Mónica Cozar, Daniel Grinberg, Susana Balcells, Carla G Asteggiano, Gustavo Martínez-Domenech, Ana Bracho, Yanira Sánchez, Frances Stock, Wilmer Delgado-Luengo, Carmen Zara-Chirinos, José Antonio Chacín   +11 more
openalex   +4 more sources

EXT1 (exostoses (multiple) 1) [PDF]

Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2011
Review on EXT1 (exostoses (multiple) 1), with data on DNA, on the protein encoded, and where the gene is implicated.
Judith V.M.G. Bovée
openalex   +4 more sources

Clinical significance of exostosin 1 in confirmed and suspected lupus membranous nephropathy

Lupus Science and Medicine, 2023
Objective This study aimed to investigate the clinical significance of exostosin 1 (EXT1) in confirmed and suspected lupus membranous nephropathy (LMN).Methods EXT1 was detected in 67 renal tissues of M-type phospholipase A2 receptor (PLA2R)-negative and
Xiaohong Li, Tian ye, Mengya Jiang, Xueyan Zeng, Dan Zong, Yuanyuan Du, Biao Huang, Xuanli Tang   +7 more
doaj   +1 more source

EXT1/EXT2-Associated Membranous Nephropathy Secondary to TAFRO Syndrome: A Case Report.

Nephron
Kamido H, Oba Y, Kurihara S, Yamanouchi M, Suwabe T, Kono K, Ohashi K, Yamamoto S, Tsuji T, Ubara Y, Sawa N.   +10 more
europepmc   +2 more sources

Apolipoprotein F is reduced in humans with steatosis and controls plasma triglyceride‐rich lipoprotein metabolism

Hepatology, EarlyView., 2022
Hepatic APOF transcript levels correlate inversely with plasma TG and hepatic steatosis in humans. ApoF expression in mice promotes VLDL‐TG production and lipoprotein remnant clearance in mice. Abstract Background NAFLD affects nearly 25% of the global population. Cardiovascular disease (CVD) is the most common cause of death among patients with NAFLD,
Audrey Deprince, Nathalie Hennuyer, Sander Kooijman, Amanda C. M. Pronk, Eric Baugé, Viktor Lienard, An Verrijken, Eveline Dirinck, Luisa Vonghia, Eloïse Woitrain, Niels J. Kloosterhuis, Eléonore Marez, Pauline Jacquemain, Justina C. Wolters, Fanny Lalloyer, Delphine Eberlé, Sandrine Quemener, Emmanuelle Vallez, Anne Tailleux, Mostafa Kouach, Jean‐Francois Goossens, Violeta Raverdy, Bruno Derudas, Jan Albert Kuivenhoven, Mikaël Croyal, Bart van de Sluis, Sven Francque, François Pattou, Patrick C. N. Rensen, Bart Staels, Joel T. Haas   +30 more
wiley   +1 more source

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

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 ...
Patricia Sarrión, Anna Sangorrin, Roser Urreizti, María Andrea Delgado, Rafael Artuch, Loreto Martorell, Judith Armstrong, Jordi Antón, Ferrán Torner, Marina Vilaseca, Julián Nevado, Pablo Lapunzina, Carla Asteggiano, Susana Balcells, Daniel Grinberg   +14 more
openalex   +10 more sources

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

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   +1 more source

Exostosin1 as a novel prognostic and predictive biomarker for squamous cell lung carcinoma: A study based on bioinformatics analysis

Cancer Medicine, 2021
The exostosin (EXT) protein family is involved in diverse human diseases. However, the expression and prognostic value of EXT genes in human lung squamous cell carcinoma (LUSC) is not well understood.
Disheng Wu, Chao Huo, Siyu Jiang, Yanxia Huang, Xuehong Fang, Jun Liu, Min Yang, Jianwei Ren, Bilian Xu, Yi Liu   +9 more
doaj   +1 more source

Endothelial cell-specific reduction of heparan sulfate suppresses glioma growth in mice

Discover Oncology, 2021
Purpose Heparan sulfate (HS) is one of the factors that has been suggested to be associated with angiogenesis and invasion of glioblastoma (GBM), an aggressive and fast-growing brain tumor.
Takamasa Kinoshita, Hiroyuki Tomita, Hideshi Okada, Ayumi Niwa, Fuminori Hyodo, Tomohiro Kanayama, Mikiko Matsuo, Yuko Imaizumi, Takahiro Kuroda, Yuichiro Hatano, Masafumi Miyai, Yusuke Egashira, Yukiko Enomoto, Noriyuki Nakayama, Shigeyuki Sugie, Kazu Matsumoto, Yu Yamaguchi, Masayuki Matsuo, Hideaki Hara, Toru Iwama, Akira Hara   +20 more
doaj   +1 more source