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PNKD is thought to play a role in the regulation of myofibrillogenesis. 再加上，我们可以发PNKD 抗体 (40) 和 PNKD 蛋白 (5)和数多这个蛋白质的别的产品。
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The combined analysis identified a new risk association for colorectal cancer (CRC) at 2q35 marked by rs992157 which is intronic to PNKD and TMBIM1.Intriguingly this susceptibility single-nucleotide polymorphism (SNP) is in strong linkage disequilibrium (r(2) = 0.90, D' = 0.96) with the previously discovered GWAS SNP rs2382817 for inflammatory bowel disease (IBD).
study highlights the frequency, novel mutations and clinical and molecular spectrum of PRRT2, SLC2A1 and PNKD mutations as well as the phenotype-genotype overlap among these paroxysmal movement disorders.
This study present the pedigree is the first PNKD family from Chinese Mainland, which is also the largest PNKD family among those reported across the globe. It included 5 generations and 26 patients.
MR-1 (显示 MR1 ELISA试剂盒) functions as a tumor promoter in MCF7 cells by activating the MEK (显示 MAP2K1 ELISA试剂盒)/ERK (显示 EPHB2 ELISA试剂盒) signaling
MR-1 overexpression was tightly associated with more aggressive tumor behavior and a poor prognosis in pancreatic ductal adenocarcinoma.
MR-1 was up-regulated in gastric cancer tissues. High expression of MR-1 in gastric cancer was significantly correlated with clinical stage. Postoperative survival of the MR-1 positive group tended to be poorer than that of the MR-1 negative group.
A Taiwanese family with paroxysmal nonkinesigenic dyskinesia has a heterozygous c.20 C>T (p.Ala7Val) mutation which was clearly segregated in the five affected patients.
In this report we present two families with paroxysmal non-kinesigenic dyskinesia of Southern European origin carrying a PNKD protein recurrent mutation.
Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability.
The pnkd mutation alters such a response, suggesting that a less flexible AC region may be more effective in coupling Ca(2 (显示 CA2 ELISA试剂盒)+) binding to channel opening.
PNKD KO mice, RIM1/2 protein levels are reduced and synaptic strength is impaired. Thus, PNKD is a novel synaptic protein with a regulatory role in neurotransmitter release
These findings support the hypothesis that the PNKD protein functions to modulate striatal neuro-transmitter release in response to stress and other precipitating factors.
these findings suggest that silencing MR-1 (显示 MR1 ELISA试剂盒) protected mice myocardium against inflammatory injury induced by AngII by suppression of pro-inflammatory transcription factors NF-kappaB (显示 NFKB1 ELISA试剂盒) and AP-1 (显示 JUN ELISA试剂盒) signaling pathway.
MR-1 plays an aggravative role in the development of cardiac hypertrophy via activation of the nuclear factor kappaB signaling pathway
Paroxysmal non-kinesigenic dyskinesia (PNKD) is characterized by spontaneous hyperkinetic attacks that are precipitated by alcohol, coffee, stress and fatigue.
This gene is thought to play a role in the regulation of myofibrillogenesis. Mutations in this gene have been associated with the movement disorder paroxysmal non-kinesigenic dyskinesia. Alternative splicing results in multiple transcript variants.
brain protein 17
, myofibrillogenesis regulator 1
, probable hydrolase PNKD
, trans-activated by hepatitis C virus core protein 2
, paroxysmal nonkinesiogenic dyskinesia
, paroxysmal nonkinesiogenic dyskinesia protein