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ProteomicsUnravelling MYO9A pathophysiology in CMS allows the identification of a therapeutic intervention concept
Congenital myasthenic syndromes (CMS) are a group of rare, inherited disorders characterised by compromised function of the neuromuscular junction (NMJ), manifesting with fatigable muscle weakness. Mutations in MYO9A were previously identified as causative for CMS but the precise pathomechanism rema...
ORGANISM(S): Mus musculus (Mouse) 
2018-10-24 | PXD007178 | Pride
Lc-msms Myo9a Nsc34 
UnknownMYO9A deficiency in motor neurons is associated with reduced neuromuscular agrin secretion.
Not available
S-EPMC5991207 | biostudies-literature
UnknownIdentification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome.
Not available
S-EPMC4958899 | biostudies-literature
UnknownRho-GTPase Activating Protein myosin MYO9A identified as a novel candidate gene for monogenic focal segmental glomerulosclerosis.
Not available
S-EPMC8076076 | biostudies-literature
UnknownModulation of Agrin and RhoA Pathways Ameliorates Movement Defects and Synapse Morphology in MYO9A-Depleted Zebrafish.
Not available
S-EPMC6721702 | biostudies-literature
UnknownMyosin IXa Binds AMPAR and Regulates Synaptic Structure, LTP, and Cognitive Function.
Not available
S-EPMC4719083 | biostudies-literature
Genomicsena-DATASET-NCCK-08-02-2018-06:39:13:971-399 - samples
Fastq files for the whole genome sequencing data (Illumina HiSeq 2500; 32.6-fold) for two diffuse gastric cancers revealing the fusion breakpoints. 2102T: CTNND1-ARHGAP26 gene fusion (g.chr11:57,578,103-g.chr5:142,358,707) 354T: ANXA2-MYO9A gene fusion (g.chr15:60,656,550-g.chr15:72,157,966)
EGAD00001003953 | EGA
UnknownRhoGAP domain-containing fusions and PPAPDC1A fusions are recurrent and prognostic in diffuse gastric cancer.
Not available
S-EPMC6202325 | biostudies-literature
UnknownClinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review.
Not available
S-EPMC9961056 | biostudies-literature
UnknownThe RhoGAP HUM-7/Myo9 integrates signals to modulate RHO-1/RhoA during embryonic morphogenesis in Caenorhabditiselegans.
Not available
S-EPMC6288380 | biostudies-literature
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