نتایج جستجو برای: ژن lrp4

تعداد نتایج: 15935  

Journal: :The Lancet. Neurology 2015
Nils Erik Gilhus Jan J Verschuuren

Myasthenia gravis is an autoimmune disease that is characterised by muscle weakness and fatigue, is B-cell mediated, and is associated with antibodies directed against the acetylcholine receptor, muscle-specific kinase (MUSK), lipoprotein-related protein 4 (LRP4), or agrin in the postsynaptic membrane at the neuromuscular junction. Patients with myasthenia gravis should be classified into subgr...

Journal: :Cancer research 2005
Barbara Jarzab Malgorzata Wiench Krzysztof Fujarewicz Krzysztof Simek Michal Jarzab Malgorzata Oczko-Wojciechowska Jan Wloch Agnieszka Czarniecka Ewa Chmielik Dariusz Lange Agnieszka Pawlaczek Sylwia Szpak Elzbieta Gubala Andrzej Swierniak

The study looked for an optimal set of genes differentiating between papillary thyroid cancer (PTC) and normal thyroid tissue and assessed the sources of variability in gene expression profiles. The analysis was done by oligonucleotide microarrays (GeneChip HG-U133A) in 50 tissue samples taken intraoperatively from 33 patients (23 PTC patients and 10 patients with other thyroid disease). In the...

2016
Hiroaki Nakashima Bisei Ohkawara Shinsuke Ishigaki Takayasu Fukudome Kenyu Ito Mikito Tsushima Hiroyuki Konishi Tatsuya Okuno Toshiro Yoshimura Mikako Ito Akio Masuda Gen Sobue Hiroshi Kiyama Naoki Ishiguro Kinji Ohno

At the neuromuscular junction (NMJ), acetylcholine receptor (AChR) clustering is mediated by spinal motor neuron (SMN)-derived agrin and its receptors on the muscle, the low-density lipoprotein receptor-related protein 4 (LRP4) and muscle-specific receptor tyrosine kinase (MuSK). Additionally, AChR clustering is mediated by the components of the Wnt pathway. Laser capture microdissection of SMN...

Journal: :Neurology 2014
Christiane Gasperi Arthur Melms Benedikt Schoser Yina Zhang Julia Meltoranta Valerie Risson Laurent Schaeffer Bertold Schalke Stephan Kröger

OBJECTIVE Because the extracellular matrix protein agrin is essential for neuromuscular junction formation and maintenance, we tested the hypothesis that autoantibodies against agrin are present in sera from patients with myasthenia gravis (MG). METHODS We determined the presence of anti-agrin antibodies in 54 sera from patients with generalized MG using a solid-phase ELISA with purified mini...

2010
Ricardo A. Maselli Juan Arredondo Órla Cagney Jarae J. Ng Jennifer A. Anderson Colette Williams Bae J. Gerke Betty Soliven Robert L. Wollmann

We describe a severe congenital myasthenic syndrome (CMS) caused by two missense mutations in the gene encoding the muscle specific receptor tyrosine kinase (MUSK). The identified MUSK mutations M605I and A727V are both located in the kinase domain of MuSK. Intracellular microelectrode recordings and microscopy studies of the neuromuscular junction conducted in an anconeus muscle biopsy reveale...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2013
Maartje G Huijbers Wei Zhang Rinse Klooster Erik H Niks Matthew B Friese Kirsten R Straasheijm Peter E Thijssen Hans Vrolijk Jaap J Plomp Pauline Vogels Mario Losen Silvère M Van der Maarel Steven J Burden Jan J Verschuuren

Myasthenia gravis (MG) is a severely debilitating autoimmune disease that is due to a decrease in the efficiency of synaptic transmission at neuromuscular synapses. MG is caused by antibodies against postsynaptic proteins, including (i) acetylcholine receptors, the neurotransmitter receptor, (ii) muscle-specific kinase (MuSK), a receptor tyrosine kinase essential for the formation and maintenan...

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