Matches in Nanopublications for { ?s <http://purl.org/nanopub/x/asSentence> ?o ?g. }
- assertion asSentence Smurf1+is+a+negative+feedback+regulator+for+IFN-gamma+signaling+by+targeting+STAT1+for+ubiquitination+and+proteasomal+degradation. assertion.
- assertion asSentence Hypertrophy+in+skeletal+myotubes+induced+by+junctophilin-2+mutant%2C+Y141H%2C+involves+an+increase+in+store-operated+Ca2%2B+entry+via+Orai1. assertion.
- assertion asSentence Mutations+within+the+GJC2+gene+are+associated+with+primary+lymphoedema. assertion.
- assertion asSentence Mutations+and+birth+defects+caused+by+thalidomide+exposure. assertion.
- assertion asSentence SALL4+plays+a+critical+role+in+the+pathogenesis+of+MDS+by+causing+the+aberrant+activation+of+the+Wnt%2Fbeta-catenin+pathway. assertion.
- assertion asSentence Two+patients+with+%27Dropped+head+syndrome%27+due+to+mutations+in+SEPN1+genes. assertion.
- assertion asSentence Beta+cells+are+extensively+coupled+within+pancreatic+islets+via+exchanges+of+mostly+positively+charged+molecules+across+Cx36+channels. assertion.
- assertion asSentence AID+overexpression+by+itself+does+not+automatically+lead+to+the+onset+of+a+mutator+phenotype. assertion.
- assertion asSentence Both+mice+and+humans+share+a+latent%2C+AID-dependent+pathway+for+the+preimmune+diversification+of+B+lymphocytes. assertion.
- assertion asSentence Collectrin+and+ACE2+in+renal+and+intestinal+amino+acid+transport. assertion.
- assertion asSentence High+NDRG2+gene+expression+is+associated+with+recurrent+intracranial+meningiomas. assertion.
- assertion asSentence PPM1H%2C+overexpressed+in+colon+adenocarcinoma%2C+is+associated+with+CSE1L+protein. assertion.
- assertion asSentence Knockdown+of+the+serine%2Fthreonine+phosphatase+PPM1H+confers+trastuzumab+resistance+via+reduction+in+protein+levels+of+the+tumor+suppressor+p27. assertion.
- assertion asSentence Dominant+negative+MKL2+blocked+differentiation-induced+expression+of+SRF+target+genes+skeletal+alpha-actin+and+alpha-myosin+heavy+chain+and+blocked+differentiation+of+the+myoblasts+to+myotubes+in+vitro. assertion.
- assertion asSentence Cardif+induces+interferon+%28IFN%29alpha+through+a+direct+and+specific+interaction+with+the+TRAF+domain+of+TRAF3%2C+implicating+Cardif+as+the+link+between+cytoplasmic+viral+receptors+and+TRAF3. assertion.
- assertion asSentence The+ability+of+DHX9+in+sensing+both+poly+I%3AC+and+RNA+virus+is+mediated+by+IPS-1+in+myeloid+dendritic+cells. assertion.
- assertion asSentence There+is+an+association+of+the+deletion+variant+of+MTUS1+with+a+decreased+risk+for+both+familial+and+high-risk+familial+BC+supporting+its+role+in+human+cancer. assertion.
- assertion asSentence COG+directly+and+positively+regulates+endosome-to-TGN+retrograde+transport+by+specific+and+direct+interaction+with+the+t-SNARE+Stx6+via+its+Cog6+subunit. assertion.
- assertion asSentence ASCT2+silencing+inhibits+mTORC1+%28mTOR%2Fraptor%29+signaling+and+leads+to+growth+repression%2C+followed+by+enhanced+survival+signaling+via+mTORC2+%28mTOR%2Frictor%29+and+apoptosis+of+hepatoma+cells. assertion.
- assertion asSentence MIB1+overexpression+is+associated+with+urothelial+carcinomas+of+the+upper+urinary+tract. assertion.
- assertion asSentence High+expression+of+ERalpha+and+the+estrogen-induced+gene+EIG121+predicts+shorter+overall+survival+in+patients+with+high-grade+serous+ovarian+carcinoma. assertion.
- assertion asSentence TAO+kinases+are+regulators+of+p38-mediated+responses+to+DNA+damage+and+are+intermediates+in+the+activation+of+p38+by+ATM. assertion.
- assertion asSentence Cellular+STAMBPL1+is+a+positive+regulator+of+human+T-cell+leukemia+virus+type+1+Tax-mediated+NF-kappaB+signaling. assertion.
- assertion asSentence In+the+Australian+GWAS%2C+one+SNP+achieved+genomewide+significance+for+comorbid+AD%2FND%2C+rs12882384+in+KIAA1409+on+chromosome+14+%28p+%3D+4.86+x+10%28-8%29%29%29. assertion.
- assertion asSentence P-Rex1-dependent+activation+of+Rac+promotes+prostate+cancer+metastasis. assertion.
- assertion asSentence P-Rex1+is+a+key+element+in+stromal+cell-derived+factor-1-induced+angiogenic+responses+and+signaling+pathway. assertion.
- assertion asSentence P-Rex1+is+a+critical+component+for+formyl+peptide+receptor+1-mediated+signaling+leading+to+NADPH+oxidase+activation. assertion.
- assertion asSentence Both+RPEL+peptides+of+the+MAL+protein+bind+to+the+G-actin+hydrophobic+cleft+and+to+subdomain+3. assertion.
- assertion asSentence p80+is+recruited+to+the+viral+origin+in+an+E1-+and+E2-dependent+manner. assertion.
- assertion asSentence Translation+initiation+from+a+non-AUG+%28UUG%29+start+site. assertion.
- assertion asSentence STIM1+and+STIM2+are+located+in+the+acidic+Ca2%2B+stores+and+associates+with+Orai1+upon+depletion+of+the+acidic+stores+in+human+platelets. assertion.
- assertion asSentence It+plays+a+specific+role+in+differentiation+and+immunologic+stimulation+in+B+and+T+cells+to+cause+autoimmune+thyroid+disease+and+contains+AT-hook+domain+and+18+C2H2-type+zin+finger+domain. assertion.
- assertion asSentence KLHL1+interacts+with+Cav3.2+and+modulates+T-type+calcium+currents+by+increasing+current+deactivation+kinetics+and+current+density+and+calcium+influx. assertion.
- assertion asSentence POSH+inhibits+ROMK+channels+by+enhancing+dynamin-dependent+and+clathrin-independent+endocytosis+and+by+stimulating+ubiquitination+of+ROMK+channels. assertion.
- assertion asSentence p400%2FTip60+ratio+is+critical+for+colon+cancer+cells+proliferation+and+response+to+therapeutic+drugs+through+the+control+of+stress-response+pathways. assertion.
- assertion asSentence Mutations+in+the+UVSSA+gene+is+associated+with+UV-sensitive+syndrome. assertion.
- assertion asSentence The+human+zinc-finger+protein+ZBTB4+binds+methylated+DNA+in+a+sequence-specific+manner. assertion.
- assertion asSentence The+frequency+of+BRAF-KIAA1549+fusion+transcripts+is+significantly+lower+in+adult+patients+with+pilocytic+astrocytoma. assertion.
- assertion asSentence Mutations+of+ALS2+are+not+a+common+cause+of+ALS. assertion.
- assertion asSentence CHD8+promotes+the+association+of+beta-catenin+and+histone+H1%2C+with+formation+of+the+trimeric+complex+on+chromatin+being+required+for+inhibition+of+beta-catenin-dependent+transactivation. assertion.
- assertion asSentence DNA+damage+recognition+and+remodeling+activities+of+FANCM+and+FAAP24+cooperate+to+promote+efficient+activation+of+DNA+damage+checkpoints+in+Fanconi+anemia. assertion.
- assertion asSentence FANCM%2FFAAP24+plays+a+role+in+ICL-induced+checkpoint+activation+through+regulating+RPA+recruiment+at+ICL-stalled+replication+forks. assertion.
- assertion asSentence Variants+in+DENND1A+are+associated+with+polycystic+ovary+syndrome+in+women+of+European+ancestry. assertion.
- assertion asSentence The+prevalent+TRB3+missense+Q84R+polymorphism+is+significantly+associated+with+several+insulin+resistance-related+abnormalities+and+with+the+presence+of+a+cluster+of+cardiovascular+risk+factors. assertion.
- assertion asSentence TRB3+and+ATF4+belong+to+the+same+protein+complex+bound+to+the+sequence+involved+in+the+ATF4-dependent+regulation+of+gene+expression+by+amino+acid+limitation. assertion.
- assertion asSentence Q84R+variant+is+associated+with+insulin+resistance+among+T2DM+patients+in+Chinese+population. assertion.
- assertion asSentence Helicobacter+pylori+infection+is+associated+with+decreased+expression+of+TRIB3+in+human+gastric+epithelial+cell+lines+and+tissue+samples. assertion.
- assertion asSentence GATAD1+mutation+is+associated+with+autosomal+recessive+dilated+cardiomyopathy. assertion.
- assertion asSentence Hepcidin+serves+to+decrease+the+export+of+iron+from+reticuloendothelial+cells+and+absorptive+enterocytes. assertion.
- assertion asSentence Iron+overload+and+hemochromatosis+my+be+due+to+a+deficiency+in+hepcidin. assertion.
- assertion asSentence Hepatitis+C+virus-induced+oxidative+stress+suppresses+hepcidin+expression+through+increased+histone+deaceetylase+activity. assertion.
- assertion asSentence Macrophage+hepcidin+expression+is+induced+by+the+activation+of+STAT1+and+NF-kappaB+and+the+induction+of+C%2FEBPbeta+expression. assertion.
- assertion asSentence Hepcidin+messenger+RNA+expression+in+human+lymphocytes. assertion.
- assertion asSentence GATA-RE%2C+-TTATCT-+in+the+HAMP+promoter+region+-103%2F-98+is+crucial+for+the+GATA-4+and+GATA-6+driven+transcription+of+hepcidin+in+Huh7+cells. assertion.
- assertion asSentence APMCF1+participates+at+least+partially+in+cell+cycle+regulation+through+regulating+genes+such+as+p21+and+TIMP3. assertion.
- assertion asSentence Sapap3+is+a+promising+functional+candidate+gene+for+human+grooming+disorder+%28obsessive+compulsive+disorder%29. assertion.
- assertion asSentence Multiple+rare+SAPAP3+missense+variants+in+trichotillomania+and+OCD. assertion.
- assertion asSentence Human+lymphocyte+SelK+colocalizes+with+endoplasmic+reticulum+biomarker+KDEL+%28Lys-Asp-Glu-Leu%29+endoplasmic+reticulum+receptor. assertion.
- assertion asSentence Mutations+in+PDLIM3+and+MYOZ1%2C+encoding+myocyte+Z+line+proteins%2C+do+not+play+any+significant+role+in+the+genetic+etiology+of+idiopathic+DCM. assertion.
- assertion asSentence IL-21+expression+by+in+PBMCs+reduced+IgE+production+by+B+cells. assertion.
- assertion asSentence The+levels+of+serum+BAFF+and+IL-21+level+are+increased+in+the+patients+with+SLE. assertion.
- assertion asSentence IL-21-reduced+gene+and+protein+expression+of+growth-transforming+EBV+nuclear+antigen+2+%28EBNA2%29+and+increased+expression+of+latent+membrane+protein+1+%28LMP1%29+of+Epstein-Barr+virus. assertion.
- assertion asSentence IL-10+production+is+increased+in+cells+from+IL-21+transgenic+mice. assertion.
- assertion asSentence IL-21+is+induced+during+acute+and+chronic+progressive+HIV+infection+and+correlates+with+relative+control+of+virus. assertion.
- assertion asSentence A+pivotal+role+for+an+autocrine+positive+feedback+loop+involving+IL-21+and+consequent+persistent+STAT3+activation+in+the+pathogenesis+of+Sezary+syndrome. assertion.
- assertion asSentence IL-21+is+associated+with+Graves%27+disease+and+Graves%27+ophthalmopathy. assertion.
- assertion asSentence Crystal+structure+of+IL-21+binding+to+IL-21R+reveals+that+the+WSXWS+motif+of+IL-21R+is+C-mannosylated+at+the+first+tryptophan. assertion.
- assertion asSentence The+MMP-21+gene+572C%2FT+polymorphism+has+no+significant+effect+on+the+development+and+progression+of+breast+cancer. assertion.
- assertion asSentence During+esophageal+tumorigenesis%2C+MMP-21+and+MMP-26+have+different%2C+unique+expression+patterns. assertion.
- assertion asSentence SLC36A4+%28hPAT4%29+is+a+high+affinity+amino+acid+transporter+when+expressed+in+Xenopus+laevis+oocytes. assertion.
- assertion asSentence The+LRRK2+mutation+as+a+cause+of+Parkinson%27s+disease. assertion.
- assertion asSentence Heterozygous+misssense+mutations+in+exon+41+are+common+in+Parksinson+disease. assertion.
- assertion asSentence Glucocerebrosidase+and+LRRK2+mutations+are+discrete+risk+factors+for+parkinsonism+in+both+Ashkenazi+Jewish+and+non-Jewish+subjects. assertion.
- assertion asSentence Parkinson%27s+disease-associated+mutations+in+LRRK2+link+enhanced+GTP-binding+and+kinase+activities+to+neuronal+toxicity. assertion.
- assertion asSentence Common+variaations+occur+in+Parkinson+disease. assertion.
- assertion asSentence LRRK2+G6055A+mutation+in+Italian+patients+with+familial+or+sporadic+Parkinson%27s+disease. assertion.
- assertion asSentence Endogenous+human+LRRK2+expression+is+detected+during+development+in+temporal+lobe. assertion.
- assertion asSentence Mutations+in+LRRK2+are+a+clinically+relevant+cause+of+PD+that+merit+testing+in+patients+with+hereditary+PD+and+in+subgroups+of+patients+with+Parkinson%27s+disease. assertion.
- assertion asSentence Low+frequency+alleles+distributed+throughout+LRRK2+are+a+genetic+background+to+a+third+of+Parkinson%27s+disease+cases. assertion.
- assertion asSentence Multiple+single+nucleotide+polymorphisms+in+LRRK2+gene+is+associated+with+12q12+locus+with+Crohn+Disease. assertion.
- assertion asSentence A+mutation+in+LRRK2+causes+a+gain-of-function+effect+that+promotes+the+rearrangement+of+actin+cytoskeleton. assertion.
- assertion asSentence The+cerebral+cortex+in+familial+PD+linked+with+G2019S+LRRK2+is+affected+in+a+similar+way+than+that+seen+in+sporadic+parkinson+disease+without+cognitive+impairment. assertion.
- assertion asSentence LRRK2+interacts+with+the+microRNA+%28miRNA%29+pathway+to+regulate+protein+synthesis. assertion.
- assertion asSentence LRRK2+Pro755Leu+variant+rarely+increased+risk+for+PD+in+ethnic+Chinese+population+in+Asia. assertion.
- assertion asSentence Mutations+in+the+gene+encoding+leucine-rich+repeat+kinase+2+%28LRRK2%29+play+a+major+role+in+the+development+of+Parkinson%27s+disease. assertion.
- assertion asSentence Increased+spontaneous+apoptosis+of+peripheral+blood+lymphocytes+is+strongly+associated+with+LRRK2+mutations+in+Parkinson%27s+disease+patients. assertion.
- assertion asSentence Absence+of+the+Arg441His+polymorphism+in+the+tryptophan+hydroxylase+2+gene+in+adults+with+anxiety+disorders+and+depression. assertion.
- assertion asSentence TPH2+703G%2FT+SNP+is+related+to+nicotine+dependence+and+is+associated+with+the+age+of+smoking+onset. assertion.
- assertion asSentence Suicide+under+the+influence+of+alcohol+is+strongly+connected+with+TPH2+gene. assertion.
- assertion asSentence Single+Nucleotide+Polymorphisms+in+KRT74+gene+is+associated+with+woolly+hair. assertion.
- assertion asSentence FAM29A+promotes+microtubule+amplification+via+recruitment+of+the+NEDD1-gamma-tubulin+complex+to+the+mitotic+spindle. assertion.
- assertion asSentence LMP1%2C+through+its+transmembrane+domains%2C+directly+bound+FGD4+and+enhanced+FGD4+activity+toward+Cdc42%2C+leading+to+actin+cytoskeleton+rearrangement+and+increased+motility+of+NPC+cells. assertion.
- assertion asSentence Mutations+of+ABH2+is+associated+with+pediatric+brain+tumors. assertion.
- assertion asSentence The+expression+of+SOCS5+and+its+closest+homolog+SOCS4+is+elevated+in+cells+following+treatment+with+EGF%2C+similar+to+several+negative+feedback+regulators+of+EGFR+whose+expression+is+up-regulated+upon+receptor+activation. assertion.
- assertion asSentence The+structure+of+the+SOCS4-ElonginC-ElonginB+complex+reveals+a+distinct+SOCS+structural+class. assertion.
- assertion asSentence Higher+mRNA+expression+levels+of+SOCS1%2C+3%2C+4+and+7+are+significantly+associated+with+earlier+tumour+stage+and+better+clinical+outcome+in+human+breast+cancer. assertion.
- assertion asSentence A+splice-site+mutation+in+a+retina-specific+exon+of+TTC8+causes+nonsyndromic+retinitis+pigmentosa. assertion.
- assertion asSentence Mutations+in+MTFMT+underlie+a+human+disorder+of+formylation+causing+impaired+mitochondrial+translation. assertion.
- assertion asSentence OSTalpha%2FOSTbeta+expression+is+induced+by+bile+acids+through+ligand-dependent+transactivation+of+both+OST+genes+by+the+nuclear+bile+acid+receptor%2Ffarnesoid+X+receptor+%28FXR%29. assertion.
- assertion asSentence Decreases+in+SEPTIN12+expression+is+associated+with+male+infertility. assertion.