Results 141 to 150 of about 16,338 (222)

Identification of a novel mutation in the EXT1 gene from a patient with multiple osteochondromas by exome sequencing

, 2016
Guolin Hong, Xiaoyan Guo, Wei Yan, Qianqian Li, Hailing Zhao, Ping Ma, Xiao Hu   +6 more
openalex   +2 more sources

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

, 2016
Lei Zhuang, Simon Gerber, Stefan Kuchen, Peter M. Villiger, Beat Trüeb   +4 more
openalex   +1 more source

Case Report: Exostosin 1-associated membranous nephropathy and Guillain-Barré syndrome: a common autoimmune etiology? [PDF]

Front Nephrol
León-Póo M, López-Melero E, Shabaka A, Guerrero-Márquez C, Barcenilla-López M, Cases-Corona C, Gruss E, Roldán D.   +7 more
europepmc   +1 more source

Figure S1 from Heparan Sulfate Synthesized by <i>Ext1</i> Regulates Receptor Tyrosine Kinase Signaling and Promotes Resistance to EGFR Inhibitors in GBM

, 2023
Yuki Ohkawa, Anna Wade, Olle R. Lindberg, Katharine Y. Chen, Vy M. Tran, Spencer J. Brown, Anupam Kumar, Mausam Kalita, C. David James, Joanna J. Phillips   +9 more
openalex   +1 more source

Not So Benign: Revisiting Pure Membranous Lupus Nephritis. [PDF]

J Pers Med
Uzzo M, Calatroni M, Moroni GL.
europepmc   +1 more source

Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses [PDF]

, 2014
Aleksander Jamsheer, Magdalena Socha, Anna Sowińska‐Seidler, Kinga Telega, Tomasz Trzeciak, Anna Latos‐Bieleńska   +5 more
openalex   +1 more source

Expanding the Genetic Spectrum of Non-Syndromic Cleft Lip and Palate Through Whole-Exome Sequencing. [PDF]

Int J Mol Sci
Biedziak B, Dąbrowska J, Bogdanowicz A, Karbowska K, Mostowska A.   +4 more
europepmc   +1 more source

Mutation Screening of EXT1 and EXT2 by Denaturing High-Performance Liquid Chromatography, Direct Sequencing Analysis, Fluorescence in Situ Hybridization, and a New Multiplex Ligation-Dependent Probe Amplification Probe Set in Patients with Multiple Osteochondromas

, 2007
Ivy Jennes, Mark M. Entius, Els Van Hul, Alessandro Parra, Luca Sangiorgi, Wim Wuyts   +5 more
openalex   +2 more sources

EXT1-dependent lipidomics, glycomics, and proteomics

, 2020
Jean‐Claude Twizere
openalex   +1 more source

Adipocyte heparan sulfate determines type 2 diabetes susceptibility in mice via FGF1-Mediated glucose regulation. [PDF]

Mol Metab
Yu CJ, Pessentheiner AR, Liu S, Wax S, Maciej-Hulme ML, Painter CD, Ramms B, Sandoval DR, Quach A, DeForest N, Ducasa GM, Tognaccini C, Labib C, Al-Azzam N, Haumann F, Trieger G, Secrest P, Majithia A, Petrey AC, Godula K, Atkins AR, Downes M, Evans RM, Gordts PLSM.   +23 more
europepmc   +1 more source