Results 31 to 40 of about 2,624 (190)

The identification of a novel frameshift insertion mutation in the EXT1 gene in a Chinese family with hereditary multiple exostoses

Clinical Case Reports, 2022
To identify the pathogenic gene variation in a Chinese family with Hereditary Multiple Exostoses (HME). By examining blood‐sourced DNA and clinical manifestations of the proband and his family members, the whole exome sequencing (WES) and Sanger ...
Wanlu Liu, Xinwei Shi, Yuqi Li, Fuyuan Qiao, Yuanyuan Wu   +4 more
doaj   +1 more source

Glycosyltransferase Extl1 promotes CCR7-mediated dendritic cell migration to restrain infection and autoimmunity

Cell Reports, 2023
Summary: CCR7-triggered DC migration toward draining lymph nodes is critical for the initiation of protective immunity and maintenance of immune tolerance.
Juan Liu, Yujie Cheng, Xiaomin Zhang, Yali Chen, Ha Zhu, Kun Chen, Shuxun Liu, Zhiqing Li, Xuetao Cao   +8 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

Mechanisms of Primary Membranous Nephropathy

Biomolecules, 2021
Membranous nephropathy (MN) is an autoimmune disease of the kidney glomerulus and one of the leading causes of nephrotic syndrome. The disease exhibits heterogenous outcomes with approximately 30% of cases progressing to end-stage renal disease.
Yan Gu, Hui Xu, Damu Tang
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

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   +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

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

Pteropine orthoreoviruses use cell surface heparan sulphate as an attachment receptor

Emerging Microbes and Infections, 2023
Pteropine orthoreoviruses (PRVs) are an emerging group of fusogenic, bat-borne viruses from the Orthoreovirus genus. Since the isolation of PRV from a patient with acute respiratory tract infections in 2006, the zoonotic potential of PRV has been further
Chee Wah Tan, Akshamal M. Gamage, Wee Chee Yap, Leon Jia Wei Tang, Yuan Sun, Xing-Lou Yang, Alyssa Pyke, Kaw Bing Chua, Lin-Fa Wang   +8 more
doaj   +1 more source