PMID int64 27.8M 36.2M | Title/Abstract stringlengths 7 10.7k | MeshTerms stringlengths 7 104 | SemanticTypes stringlengths 4 84 |
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34,680,961 | hyperinsulinem hypoglycemia three generat famili glucokinas activ mutat ct c ptrparg famili hyperinsulinem hypoglycemia fhh rare diseas heterogen clinic manifest report heterozyg activ mutat glucokinas gck attribut fhh report describ effect cours pregnanc affect motheraffect child larg kindr fhh gck ct c ptrparg pathogen variant identifi four famili member three generat affect clinic follow one clinic center last year differ time diagnosi rang neonat period adulthood sever hypoglycemia mildsever fast trigger hypoglycemia respons diazoxid vari good neonat moderatepoor childhoodadulthood howev bias poor complianc treatment somatostatin analogu discontinu due side effect time patient develop clinic adapt low glucos level pregnanc episod sever hypoglycemia first trimest observ respond well steroid clinic cours gck ct c ptrparg mutat vari famili develop clinic adapt low glucos level time treatment steroid might prevent hypoglycemia pregnanc affect mother | D020022 | T032 |
34,680,959 | environment alter embryon develop studi impact stressor pluripot stem cell deriv cardiomyocyt non communic diseas ncds sauch diabet obes cardiovascular diseas rise rapid countri world wide environment matern factor eg diet oxid stress drug mani other matern ill stressor predispos newborn develop diseas differ stage life connect environment factor ncds formul david barker colleagu development origin health diseas dohad hypothesi review describ dohad concept effect sever environment stressor health progeni provid anim human evid focus cardiovascular diseas repres lead caus death worldwid purpos review discuss vitro studi pluripot stem cell pscs embryon induc pluripot stem cell esc ipsc underpin research non genet heart condit pscs could provid tool recapitul aspect embryon develop dish studi effect environment exposur cardiomyocyt cm differenti matur establish link molecular mechan epigenet | D013312 | T121;T039;T046;T032;T040 |
34,680,958 | tempor transcriptom analysi reveal dynam express profil gamet embryon develop japanes flounder paralichthi olivaceus matern zygot transit mzt crucial event embryo develop featur mzt across speci share stage transit differ among speci character mzt flatfish speci japanes flounder paralichthi olivaceus studi analyz gb transcriptom data two type gamet sperm egg embryo development stage japanes flounder identifi matern factor relat gene found matern factor relat gene express decreas low blastula lb stage remain silent subsequ embryon develop period meanwhil verifi zygot genom transcript might occur cell stage larg scale transcript began lb stage indic lb stage major wave zygot genom activ zga occur addit indic wnt signal pathway play divers role embryon develop involv zga axi format result report list matern gene japanes flounder defin stage mzt contribut understand detail mzt japanes flounder embryon develop | D059467 | T086;T081 |
34,680,957 | dna methyl level chang transgen chines cabbag brassica rapa ssp pekinensi plant effect correspond gene express pattern plant tissu cultur vitro techniqu use manipul cell tissu organ play import role genet transform howev plant cultur vitro often exhibit unintend genet epigenet variat sinc import secur stabil endogen exogen gene express transgen plant prefer avoid occurr variat studi focus epigenet variat exclus methyl level chang dna transgen chines cabbag brassica rapa ssp pekinensi plant detect methyl level chang dna bisulfit sequenc perform obtain sequenc compar ct refer genom differenti methyl region dmrs dna non transgen transgen line detect bisulfit sequenc ten dmrs locat exon region identifi region methyl variat inherit consist maintain next generat line select valid also analyz relationship methyl status express level transform conserv dmr tcd gene quantit revers transcript pcr result suggest chang methyl level dmrs might relat plant transform process affect subsequ gene express find use fundament research methyl variat transgen plant suggest variat affect express associ gene | D019175 | T044 |
34,680,956 | factor regul activ line retrotransposon line l class autonom mobil genet element form somat mosaic various tissu organ activ l retrotransposon strict control mani factor somat germ cell stage ontogenesi alter l activ note number diseas neuropsychiatr autoimmun diseas well various form cancer alter activ l retrotransposon patholog associ epigenet chang defect gene involv repress review discuss molecular genet mechan retrotransposit regul activ l element contribut various factor control express distribut l element genom occur stage retrotransposit regul l element transcript post transcript integr genom stage describ detail final review also focus evolutionari aspect l accumul interplay host regul system | D020084 | T114;T123 |
34,680,955 | genom tool identif loci associ facial eczema new zealand sheep facial eczema fe signific metabol diseas affect new zealand rumin ingest mycotoxin sporidesmin lead liver bile duct damag result photosensitis reduc product death strategi use manag incid sever diseas includ breed sheep consider genet variat respons fe commerci test program avail ram breeder aim increas toler determin concentr serum enzym gamma glutamyltransferas day measur sporidesmin challeng ggt genom wide associ studi carri determin region genom associ ggt two region chromosom report explain phenotyp varianc respons fe respect region chromosom contain globin locus signific snps region one missens variant within haemoglobin subunit hbb gene mass spectrometri haemoglobin anim differ genotyp locus indic genotyp associ differ form adult globin haemoglobin haplotyp previous associ variat sever health relat trait sheep warrant investig regard role toler fe sheep show strateg approach identif region import commerci breed program combin discoveri statist biolog valid studi highlight power use increas densiti genotyp identif influenti genom region combin subsequ inclus lower densiti genotyp platform | D020641;D040641 | T086;T028 |
34,680,953 | improv snv discoveri barcod stratifi scrna seq align current detect singl nucleotid variant snvs x genom singl cell rna sequenc data scrna seq typic perform pool sequenc read across cell sampl assess gain inform regard snv assess individu cell scrna seq data wherein align split cellular barcod prior variant call also reanalyz public avail data mcf cell line anticanc treatment assess snv call three variant caller gatk strelka mutect combin method cell level tabul sequenc read count bear variant allel screadcount singl cell read count analysi show variant call individu cell align identifi least two fold higher number snvs compar pool scrna seq snvs enrich novel variant stop codon missens substitut studi indic immens potenti snv call individu cell scrna seq data emphas need cell level variant detect approach tool contribut understand cellular heterogen relationship phenotyp help elucid somat mutat evolut function | D020641 | T086 |
34,680,951 | ras dimer novic coupl ras erk pathway ball signal convey ras erk pathway constitut pivot regulatori element cancer relat cellular process recent ras dimer propos key step relay ras signal critic contribut raf activ ras cluster plasma membran microdomain endomembran facilit ras dimer respons stimul promot raf dimer subsequ activ remark inhibit ras dimer forestal tumorigenesi cellular anim model thus pharmacolog disrupt ras dimer emerg addit target cancer research quest mean curtail aberr ras activ | D055503 | T067 |
34,680,950 | meta analyt investig gap measur predict inter popul genet divers speci high conserv concern case critic endang european mink mustela lutreola l although proper design sampl popul genet studi key import plan evid inform conserv measur sampl strategi rare discuss case european mink mustela lutreola critic endang speci order address problem meta analysi aim examin complet mtdna haplotyp sampl recent studi lutreola inter popul genet divers conduct analysi perform use sampl size base rarefact extrapol sampl curv method three popul northeastern russia belarus estonia western franc spain southeastern romania extrapol valu shannon wiener index determin assum full sampl coverag gap measur predict inter popul genet divers estim indic identifi level sampl coverag lowest ne popul follow se popul w popul guid sampl design account sampl uncertainti futur popul genet studi european mink provid relat low sampl coverag russian popul clear indic urgent need take conserv measur european mink countri | D056727;D011110 | T098;T045 |
34,680,949 | consist assign risk benign allel rs cf modifi gene scnnb three independ fdel cftr homozyg patient popul cftr encod chlorid bicarbon channel express apic membran polar epitheli cell transepitheli sodium transport mediat amilorid sensit sodium channel enac thought contribut manifest cf diseas thus enac therapeut target cf valid cystic fibrosi modifi gene character scnnb genet modifi three independ patient cohort fdel cftr homozygot could identifi regulatori element scnnb genom segment rs rs rs fine map pbest consist observ risk allel rs c contrast benign allel rs g three patient cohort furthermor result show express level scnnb associ rs genotyp intestin epithelia p data confirm well establish biolog role scnnb recogn associ studi inform endophenotyp rare diseas cystic fibrosi call attent reproduc result associ studi obtain small albeit care character patient popul | D060045;D020641 | T086;T028 |
34,680,948 | insulin like growth factor signal mammalian hear insulin like growth factor igf peptid hormon belong insulin famili protein almost biolog effect igf mediat bind high affin tyrosin kinas receptor igfr transmembran receptor belong insulin receptor famili factor receptor igf bind protein form igf system multipl role mammalian develop adult tissu homeostasi age consequ mutat gene igf system includ downstream intracellular target underli multipl common patholog associ multipl rare human diseas review contribut igf system understand molecular genet basi human hear loss describ express pattern igf system mammalian inner ear ii downstream signal igf hear organ iii mous mutat igf system includ upstream regul downstream target igf inform cochlear pathophysiolog iv human mutat gene caus hear loss | D006309 | T039 |
34,680,947 | genet molecular evalu report three novel mutat creat awar pycnodysostosi diseas pycnodysostosi rare autosom recess disord characterist diagnost manifest studi aim phenotyp provid molecular character egyptian patient emphasi identifi unusu phenotyp rais awar pycnodysostosi differ present avoid mis diagnosi consequ mismanag report egyptian pycnodysostosi patient includ new particip descend consanguin famili age rang year addit prenat diagnosi perform one famili affect sibl present short statur except one patient present pancytopenia primari complaint moreov patient sleep apnea present craniosynostosi failur tooth develop molecular analysi via direct exom sequenc cathepsin k gene reveal three novel mutat nm cdelcct cdelaa cg well two previous report mutat among nine new case follow conclus studi expand molecular spectrum pycnodysostosi identifi three novel mutat add clinic orodent aspect diseas link ctsk gene mutat failur tooth develop establish studi could help improv understand molecular patholog | D010641 | T032 |
34,680,945 | non recombinogen function rad brca rad dna damag toler dna damag toler ddt respons aim time safe complet dna replic facilit advanc replic fork block lesion process associ accumul singl strand dna ssdna fork behind fork lesion bypass ssdna fill perform translat synthesi tls templat switch mechan tls use low fidel polymeras incorpor dntp opposit block lesion wherea templat switch use radssdna nucleofila sister chromatid bypass lesion rad load nucleofila two mediat protein brca rad three factor critic homolog recombin hr review recent advanc show rad brca rad perform function mechan requir strand exchang activ rad format protect revers fork structur aim bypass block lesion promot tls find point central hr protein potenti molecular switch choic mechan ddt | D004260 | T045 |
34,680,944 | global transcriptom character assembl thermophil ascomycet chaetomium thermophilum correct genom annot fundament research field molecular structur biolog annot refer genom chaetomium thermophilum report previous essenti limit open read frame orf protein code gene contain noncod transcript studi identifi annot full length transcript c thermophilum deep rna sequenc annot code gene noncod gene astonish code gene altern splice identifi novel code gene well novel noncod gene correct structur organ previous annot gene furthermor substanti extend gene ontolog go enzym commiss ec list provid comprehens search tool potenti industri applic basic research identifi novel transcript improv annot help understand gene regulatori landscap c thermophilum analysi pipelin develop use build transcriptom assembl identifi code noncod rnas speci | D059467 | T086;T081 |
34,680,943 | dna damag respons cell cycl regul pluripot stem cell pluripot stem cell pscs hold great promis cell base therapi pluripot properti abil prolifer indefinit embryon stem cell esc deriv inner cell mass icm possess uniqu cell cycl control shorten g phase addit esc high express homolog recombin hr relat protein repair doubl strand break dsbs hr non homolog end join nhej pathway hand generat induc pluripot stem cell ipsc forc express transcript factor oct sox klf c myc accompani oxid stress dna damag dna repair mechan dsbs therefor critic determin genom stabil effici ipsc generat maintain genom stabil pscs play pivot role prolifer pluripot pscs term therapeut applic genom stabil key reduc risk cancer develop due abnorm cell replic year group identifi import regul dna damag respons pscs includ foxm sirt puma function transcript regul downstream target p cdk involv cell cycl regul review fundament link psc specif hr process dna damag respons focus role foxm sirt maintain genom integr | D002453;D004249 | T043;T049 |
34,680,942 | associ aldh genet variant alcohol consumpt risk nasopharyng carcinoma east asian popul nasopharyng carcinoma npc alcohol flush syndrom thought strong influenc genet factor high preval amongst east asian diminish activ aldehyd dehydrogenas aldh major enzym alcohol metabol pathway caus flush syndrom associ alcohol consumpt genet effect aldh isoform npc unknown therefor investig associ genet polymorph aldh isoform npc among patient npc age gender match healthi control taiwan singl nucleotid polymorph snps locat base pair upstream downstream aldh isoform code region collect two genom wise associ studi conduct taiwan taiwan biobank thirteen snps locat aldha aldha aldhb aldhl aldha aldh gluli rs associ npc suscept stratif alcohol status reveal cumul risk effect npc amongst drinker non drinker odd ratio confid interv respect synergist effect observ snps alcohol studi first report associ genet variant aldh isoform interact alcohol consumpt npc east asian popul | D020641 | T086 |
34,680,941 | compar transcriptom analysi monocyt deriv macrophag asymptomat gba mutat carrier patient gba associ parkinson diseas mutat gba gene encod lysosom enzym glucocerebrosidas gcase greatest genet risk factor parkinson diseas pd frequenc across world ns lp two common mutat gba gene pd carrier sever mutat lp gba gene character earlier age onset compar ns everi carrier gba mutat develop pd one lifetim current studi aim find common gene express signatur pd associ mutat gba gene gba pd use rna seq compar transcriptom monocyt deriv macrophag patient gba pd lpn nsn asymptomat gba mutat carrier gba carrier lpn nsn control also conduct compar transcriptom analysi lpn gba pd patient gba carrier reveal deregul gene gba pd independ gba mutat lp ns involv immun respons neuron function found upregul pathway associ zinc metabol lpn gba pd patient potenti import role dusp pathogenesi gba pd suggest | D059467 | T086;T081 |
34,680,939 | novel variant superoxid dismutas gene pvm al patient pure lower motor neuron present amyotroph later sclerosi al progress fatal disord character degener motor neuron cerebr cortex brain stem spinal cord case al appear sporad patient famili histori diseas mutat superoxid dismutas gene sod found famili case sporad case current differ sod gene variant identifi al patient describ two appar sporad al patient carri sod cg variant lead pvm substitut previous describ patient show pure lower motor neuron phenotyp former present flail leg syndrom rare al variant character progress distal onset weak atrophi lower limb slow progress better surviv typic al latter exhibit rapid progress weak upper lower limb neither upper motor neuron bulbar involv shorter surviv typic al provid accur descript phenotyp bioinformat analysi pvm variant protein structur studi may increas knowledg genotyp phenotyp correl al improv approach al patient | D020125 | T045 |
34,680,938 | genet genom pathway melanoma develop invas metastasi melanoma serious form skin cancer account skin cancer death recent studi suggest melanoma invas attribut phenotyp switch revers type cell behaviour similar epitheli mesenchym transit phenotyp switch melanoma report independ genet alter wherea chang gene transcript epigenet alter associ invas melanoma cell line review mutat transcript epigenom alter contribut tumour heterogen melanoma potenti drive melanoma invas metastasi also discuss three model hypothes contribut toward aspect tumour heterogen tumour progress melanoma name clonal evolut model cancer stem cell model phenotyp switch model discuss merit disadvantag model explain tumour heterogen melanoma precursor invas metastasi | D015972 | T045 |
34,680,937 | determin diseas penetr prpf associ retinopathi retin pigmentosa rp caus domin mutat prpf howev signific proport mutat carrier develop retinopathi investig relationship cnot polymorph msr repeat copi number diseas penetr rp patient non penetr carrier npcs character prpf cnot express fibroblast eight rp patient one npc famili carri cc variant retin organoid ros retin pigment epithelium rpe differenti induc pluripot stem cell deriv rp patient npc control subject rp patient homozyg copi msr repeat prpf promot npcs carri copi msr repeat cnot rs genotyp correl diseas penetr prfp express declin age adult cadaver retina prpf cnot express reduc rp fibroblast ro rpe compar control rp npc rpe display shorten primari cilia compar control howev subpopul cell normal cilia length present npc rpe monolay result indic rp non penetr associ inherit copi msr repeat cnot polymorph | D019683 | T081 |
34,680,935 | uptak patient perspect addit test novel diseas associ gene lesson pah cohort pulmonari arteri hypertens pah identifi genet caus pah case due health benefit confer earli detect pah recent identif addit pah associ gene decid offer extend genet test incid preval idiopath pah ipah pulmonari veno occlus diseas pvod patient clinic report lesson learn contact ipahpvod patient concern uptak analysi identifi pah associ gene patient perspect approach | D001290 | T078;T041;T055 |
34,680,934 | use comorbid pattern analysi detect reliabl methyl gene colorect cancer verifi stool dna test colorect cancer crc third common diagnos cancer worldwid colonoscopi fecal immunochem test fit common use crc screen test type test possess differ limit recent liquid biopsi base dna methyl test becom power tool cancer screen detect abnorm dna methyl stool specimen consid effect approach crc screen aim studi develop novel approach biomark select base integr primari biomark genom wide methyl profil secondari biomark crc comorbid analyt total differenti methyl probe dmps identifi primari biomark genom wide methyl profil among biomark includ hypermethyl dmps hypomethyl dmps consid suitabl dmp candid crc screen test compar commerci kit three gene adhf sdc ppprc select candid epigenet biomark crc screen test methyl level three biomark signific higher patient crc normal subject sensit specif integr methyl adhf sdc ppprc crc detect achiev respect integr approach use genom wide dna methyl profil electron medic record could design biomark panel allow earli accur noninvas detect crc use stool sampl | D019175 | T044 |
34,680,932 | influenc renal impair genet subtyp warfarin control japanes patient genotyp vitamin k epoxid reductas complex vkorc cytochrom p c cypc influenc therapeut warfarin dose convers nongenet factor especi renal function associ warfarin mainten dose howev optim algorithm consid gene renal dysfunct establish singl center prospect cohort studi aim evalu factor affect warfarin mainten dose develop pharmacogenet guid algorithm includ factor renal impair other commenc outpati prescrib warfarin thromboembol stroke prophylaxi stroke center enrol patient characterist blood test result dietari vitamin k intak cypc vkorc g genotyp record cypc vkorc g genotyp reveal patient cypc vkorc mutant aa genotyp multipl linear regress analysi demonstr optim pharmacogenet base model compris age bodi surfac area estim glomerular filtrat rate egfr genotyp vitamin k intak aspart aminotransferas level alcohol intak egfr exercis signific impact mainten dose increas egfr mlmin escal warfarin mainten dose mg reduc egfr relat lower warfarin mainten dose independ vkorc cypc genotyp japanes patient | D054796;D005919;D000071184 | T057;T060;T045 |
34,680,930 | pyroptosi pattern character distinct tumor microenviron infiltr landscap gastric cancer potenti role pyroptosi tumor microenviron tme reprogram immunotherapi receiv increas attent studi concentr singl tme cell type singl pyroptosi regul pr overal tme cell infiltr characterist mediat integr role multipl prs comprehens recogn | D000069292;D059016 | T043;T070 |
34,680,928 | gene amplif extrachromosom circular dna oncogen amplif close link pathogenesi broad spectrum human malign tumor amplifi gene local either extrachromosom circular dna refer cytogenet visibl doubl minut dms submicroscop episom chromosom homogen stain region hsr extrachromosom circl chromosom arm initi gene amplif result format dms hsr sequenc element requir replic initi replic initi regionmatrix attach region irmar genet background permit gene amplif articl natur intracellular behavior generat contribut cancer genom plastic extrachromosom circl summar discuss review recent articl topic studi critic understand treat human cancer also product recombin protein biopharmaceut increas recombin gene cell | D005784 | T045 |
34,680,927 | evalu genotyp base gene express model perform cross framework cross dataset studi predict gene express genotyp data valuabl studi inaccess tissu brain herein present egenscor polygenicpoli variat method compar predixcan method base regular linear regress use elast net method purpos predict gene express base genotyp carri import methodolog differ compar perform express quantit trait loci eqtl model predict gene express frontal cortex compar across framework egenscor vs predixcan train dataset braineac brain specif vs gtex data across multipl tissu addit intern five fold cross valid extern valid gene express model use commonmind consortium databas result show predixcan outperform egenscor regardless train databas use use predixcan perform eqtl model frontal cortex higher train gtex braineac | D005838;D008957;D059467 | T086;T032;T170;T081 |
34,680,926 | evolut multicellular emerg multicellular organ perhap spectacular major transit evolutionari histori life planet | D019143 | T038 |
34,680,925 | risk allel frequenc analysi singl nucleotid polymorph vitamin concentr differ ethnic group preval vitamin defici vari among popul differ ethnic suggest exist genet compon purpos studi provid insight genet caus vitamin concentr differ among individu divers ancestri collect singl nucleotid polymorph snps associ vitamin concentr genom wide associ studi catalog popul level allel frequenc deriv base genom project korean refer genom databas use fisher exact test assess signific enrich deplet effect allel given snp databas addit calcul snp base genet risk score grs perform correl analysi vitamin concentr includ latitud european american south asian popul show similar heatmap pattern wherea african east asian korean popul distinct one grs calcul allel frequenc vitamin concentr highest among european follow east asian african addit differ vitamin concentr high correl genet factor rather latitud effect | D005787;D020641 | T086;T081;T078 |
34,680,924 | genet target clinic trial parkinson diseas learn success made oncolog clinic trial neurodegen disord associ high rate failur oncolog implement precis medicin focus genet defin subtyp diseas target drug develop seen unpreced success gene associ parkinson diseas pd high penetr often caus earli onset atyp sign symptom increas understand associ pathophysiolog culmin dopaminerg neurodegener appli technolog design field neurodegener seem logic step review describ method use oncolog clinic trial attempt parkinson diseas potenti implement genet biomark smart clinic trial design diseas area | D002986 | T062 |
34,680,923 | antibacteri peptid resist staphylococcus aureus various mechan associ pathogen staphylococcus aureus bacterium main colon nasal caviti skin colon host necessari aureus resist mani antibacteri factor deriv human commens bacteria among bacteria deriv antimicrobi peptid amp call bacteriocin report two compon system tcss signal transduct system specif bacteria involv resist sever bacteriocin aureus howev tcs mediat resist limit relat low concentr bacteriocin high concentr bacteriocin still exhibit antibacteri activ aureus determin whether could obtain high bacteriocin resist mutant tri isol high nisin resist mutant expos cell sub minimum inhibitori concentr mic nisin nisin one bacteriocin produc lactococcus lacti util food preserv worldwid final obtain high nisin resist mutant mutat one tcs brar pmtr involv express pmtabcd notabl high resist strain also show increas pathogen base find review provid date inform role tcss suscept antibacteri peptid addit mechan high antimicrobi peptid resist associ pathogen aureus elucid | D024881 | T032 |
34,680,922 | context fear condit syndrom mous model effect trisom gene content age sex genet background syndrom ds trisomi long arm human chromosom hsa common genet caus intellectu disabl id current effect pharmacotherapi success clinic trial improv cognit depend part design preclin evalu mous model broaden understand common limit experi learn memori report perform context fear condit cfc three mous model ds dp yey dp yey dp yey abbrevi dp dp dp separ trisom human hsa ortholog map mous chromosom respect examin femal male mice three line standard cblj background month age dp dp month age also examin femal male mice dp dp month age f hybrid obtain cross dbaj background result indic genotyp sex age genet background affect cfc perform data support need use femal male mice trisomi set hsa ortholog addit age genet background improv reliabl preclin evalu drug id ds | D003214;D000068617 | T032;T041 |
34,680,921 | integr map hifa regulatori element variat hypoxia induc factor hif famili transcript factor hifa epa hifa regul cellular respons hypoxia shown involv develop various diseas cancer diabet erythrocytosi complet map connect hif famili gene various omic type yet develop main aim present analysi construct integr map genom element associ hifa gene priorit potenti deleteri variant various genom databas bioinformat tool use includ ensembl mirtarbas string cytoscap methprim cadd sift ualcan integr hifa gene map visual includ transcript post transcript regul downstream target genet variant one cpg island overlap transcript start site hifa gene missens variant four predict deleteri effect protein function least five bioinformat tool current mirna report target hifa hifa downstream target includ protein code gene long noncod rnas microrna hypoxamir studi present first integr heterogen molecular interact associ hifa gene enabl holist view gene lay groundwork supplement data futur | D012045 | T114;T123 |
34,680,920 | role human satellit iii q copi number variat adapt respons age stress patholog pendulum model pericentr satellit iii satiii sat ii tandem repeat recent appear transcrib stress condit transcript shown play essenti role univers stress respons paper review role human specif satiii copi number variat cnv normal stress respons age patholog focus q loci postul close link transcript satiiiii repeat cnv accru bodi data suggest hypothet univers mechan provid satiii copi gain stress respons alongsid anoth hypothet revers mechan might reduc mean satiii copi number like via select cell excess larg q loci mechan work altern like swing pendulum may ensur balanc satiii copi number optimum stress resist model verifi recent data satiii cnv patholog therapi age senesc respons genotox stress vitro | D056915 | T086;T045 |
34,680,919 | genom consider chemotherapi induc ovarian damag fertil preserv chemotherapi induc ovarian damag fertil preserv young patient cancer emerg disciplin mechan treatment relat gonad damag provid import inform target prevent method genom aspect ovarian damag chemotherapi fulli understood sever studi demonstr gene alter relat follicular apoptosi acceler follicl activ relat ovarian insuffici suscept ovarian damag follow chemotherapi may acceler follicular apoptosi follicl reservoir util damag ovarian stroma via multipl molecular reaction chemotherapi review highlight import genom consider chemotherapi induc ovarian damag multidisciplinari oncofertil strategi provid high qualiti care young femal cancer patient | D004249 | T049 |
34,680,918 | silver forg almost gold standard dataset gene set analysi wide use gain insight high throughput express studi although various tool method develop gene set analysi consensus among research regard best practic often evalu studi report contradictori recommend method superior therefor unbias quantit framework evalu gene set analysi method valuabl framework requir gene express dataset enrich status gene set known priori absenc gold standard dataset artifici dataset common use evalu gene set analysi method howev often reli oversimplifi assumpt make bias favor given method paper propos quantit framework evalu gene set analysi method synthes express dataset use real data without reli oversimplifi unrealist assumpt preserv complex gene gene correl retain distribut express valu util quantit approach shown evalu ten wide use gene set analysi method implement propos method public avail suggest use silver evalu exist new gene set analysi method evalu use silver provid better understand current method aid develop gene set analysi method achiev higher specif without sacrif sensit | D012984 | T170;T073;T090 |
34,680,917 | genet knockout indic abcc protein bollworm helicoverpa zea major receptor cryac insecticid protein member insect atp bind cassett transport subfamili c abcc sever moth speci known receptor cryac insecticid protein bacillus thuringiensi bt mutat abolish function domain abcc known caus resist cryac although report level resist vari wide depend insect speci studi function abcc gene putat cryac receptor helicoverpa zea major pest crop evalu use crisprca progress elimin differ function abcc domain result bioassay edit insect line support mutat abcc associ cryac resist ratio rr rang fold signific differ suscept cryac detect h zea partial complet abcc knockout although highest level toler observ knock half abcc base fold rrs report similar studi close relat moth speci low rrs observ h zea knockout support abcc major cryac receptor insect | D007305 | T032 |
34,680,916 | character missens mutat catalyt domain splice mutat coagul factor x compound heterozyg chines pedigre congenit coagul factor x fx defici rare bleed disord incid one one million caus mutat fx code gene f lead abnorm coagul activ tendenc sever hemorrhag therefor identifi mutat fx import diagnos congenit fx defici | D006579;D020125;D012326 | T033;T032;T045 |
34,680,915 | fanconi anaemia childhood cancer brca gene fanconi anaemia fa inherit chromosom instabl disord characteris congenit development abnorm strong cancer predisposit less case fa caus bi allel pathogen variant pgvs brcafancd rare case bi allel pgvs brcafanc rariti fa like present due pgvs brca even due pgvs brca support fundament role encod protein normal develop prevent malign transform fa caus brca pgvs strong associ distinct spectra embryon childhood cancer aml brca pgvs also earli epitheli cancer brca pgvs germlin variant brca gene also identifi non fa childhood malign therebi impli possibl role brca pgvs also non syndrom cancer predisposit children provid concis review aspect clinic genet featur brca associ fa focus associ malign review novel aspect role germlin brca brca pgvs occur non fa childhood cancer discuss aspect clinic biolog implic | D019398;D024522 | T028 |
34,680,914 | catalogu transmiss genet arab ctga databas analys lebanes data genet disord lebanon high annual incid birth defect per live birth due genet factor catalogu transmiss genet arab ctga databas current hold data genet diseas relat gene describ lebanes subject subset disord exclus describ lebanes popul report ctga omim analysi disord highlight preponder congenit malform deform chromosom abnorm demonstr report disord follow autosom recess inherit pattern addit analysi reveal least known genet disord first map lebanes famili ctga also host variant record describ lebanes subject report clinvar dbsnp variant involv substitut follow delet duplic well del insert variant review genet data ctga databas highlight need screen program best knowledg comprehens report status genet disord lebanon date | D018912;D030541 | T170;T098 |
34,680,912 | meiosi polyploid implic genet map review plant cytogenet studi provid essenti knowledg chromosom behavior meiosi contribut understand complex process review describ detail meiotic process auto allopolyploid onset prophas pair recombin bival format highlight recent find genet control mode action specif protein lead diploid like meiosi behavior polyploid speci meiosi newli form polyploid relat chromosom homolog autopolyploid homolog homoeolog allopolyploid combin complex structur call multival structur occur multipl chromosom simultan pair synaps recombin discuss effect crossov frequenc prevent multival format favor regular meiosi homoeolog recombin particular generat new gene locus combin phenotyp may destabil karyotyp lead aberr meiotic behavior reduc fertil crop speci understand factor control pair recombin potenti provid plant breeder resourc make fuller use avail chromosom variat number structur focus wheat oilse rape sinc abund elucid studi subject includ molecular character ph wheat prbn oilse rape loci known play crucial role regul meiosi final exploit consequ chromosom pair recombin genet map construct polyploid highlight two case studi complex genom modern sugarcan man made genom harbor two subgenom recombin chromosom ii hexaploid sweet potato natur occur polyploid recent inclus allel dosag inform improv linkag estim polyploid allow multilocus genet map construct | D011123 | T049;T025 |
34,680,910 | second allel key understand time sporad hereditari colorect tumorigenesi understand molecular basi colorect neoplasia deriv mendelian genet tumor suppressor gene contribut deregul growth oncogen patient hereditari syndrom express one allel key tumor suppressor gene absent birth loss express second allel precipit tumorigenesi howev multipl way express second allel tumor suppressor gene lost review way possibl effect phenotyp | D019656 | T045 |
34,680,908 | expand neurolog phenotyp ring chromosom syndrom case report review literatur ring chromosom r syndrom rare genet condit current describ medic literatur small number case report studi typic clinic featur includ microcephali short statur facial dysmorph ophthalmolog abnorm genitourinari malform report novel case r syndrom review neurolog neuroradiolog phenotyp previous describ case patient year old italian girl repres th case r syndrom describ date intellectu disabilitydevelopment delay iddd microcephali strabismus hypotonia stereotypedaggress behavior electroencephalograph abnorm identifi patient seri previous case brain mri disclos complex malform involv vermi cerebellar hemispher literatur posterior cranial fossa abnorm document ct scan anoth case two gene delet case zmynd p ebf q involv autosom domin neurodevelopment disord character differ express brain posterior cranial fossa abnorm iddd hypotonia behavior problem case expand neurolog neuroradiolog phenotyp r syndrom although r syndrom repres extrem rare condit clinic character limit case report recurr specif neurolog neuroradiolog featur suggest need specif genotyp phenotyp studi | D010641 | T032 |
34,680,906 | ewa monozygot twin implic role mtor pathway pathogenesi tic spectrum disord tic spectrum disord tsd umbrella term includ gill de la tourett syndrom gts chronic tic disord ctd consid high herit yet genet compon remain larg unknown studi aim investig diseas associ dna methyl differ identifi gene pathway may implic tsd aetiolog purpos perform exploratori analysi genom wide dna methyl pattern whole blood sampl monozygot twin pair eight discord six concord tsd two pair asymptomat although site reach genom wide signific identifi sever site region suggest signific locat within vicin gene biolog function associ neuropsychiatr disord two top gene identifi tsc cryz tyw enrich pathway compon phosphoinosid pten pathway insulin receptor substrat bind relat associ pikaktmtor pathway gene pathway previous associ gts mtor signal implic rang neuropsychiatr disord thus possibl alter mtor signal play role complex pathogenesi tsd | D019175;D044127 | T044;T045 |
34,680,905 | machin learn overview applic pharmacogenet narrat review aim provid overview main machin learn ml techniqu applic pharmacogenet antidepress anti cancer warfarin drug past year ml deal studi design develop algorithm give comput capabl learn without explicit program ml sub field artifici intellig date demonstr satisfactori perform wide rang task biomedicin accord final goal ml defin supervis sml unsupervis uml sml techniqu appli predict focus research hand uml techniqu use outcom known goal research unveil under structur data increas use sophist ml algorithm like instrument improv knowledg pharmacogenet | D000069550 | T066 |
34,680,904 | major depress disord lifestyl correl genet effect extend twin pedigre recent year evid accumul regard ubiqu pleiotropi across genom share genet etiolog thought play larg role widespread comorbid among psychiatr disord risk factor recent method investig pleiotropi estim genet correl genom wide associ summari statist comprehens estim deriv known related genet relat analysi extend twin pedigre data allow estim genet correl addit non addit genet effect well share household effect conduct seri bivari genet analys extend twin pedigre data lifetim major depress disord mdd three indic lifestyl name smoke behavior physic inact obes decompos phenotyp varianc covari genet environment compon analyz lifetim mdd lifestyl data larg multigener dataset individu varianc compon analysi mendel softwar find genet correl mdd smoke behavior r g physic inact r g bodi mass index r g obes r g primarili driven addit genet effect outcom provid evid favor share genet etiolog mdd lifestyl factor | D008019 | T047;T054 |
34,680,903 | two decad mandibuloacr dysplasia discoveri addit case comprehens view diseas characterist pathogen variant lmna gene caus group heterogen genet disord call laminopathi particular homozyg compound heterozyg variant lmna associ mandibuloacr dysplasia type mada autosom recess disord character mandibular hypoplasia growth retard main postnat pigmentari skin chang progress osteolysi distal phalang andor clavicl partial lipodystrophi detail characterist multisystem diseas yet specifi due rariti limit number case describ report three unrel egyptian patient variabl sever mad featur next generat sequenc use gene panel reveal homozyg cg parghi missens variant lmna exon affect individu typic mada phenotyp anoth homozyg cg pargleu variant affect amino acid identifi two addit patient present sever manifest earli life combin observ togeth data mada case report literatur get clearer pictur phenotyp variabl diseas work rais number report mada famili argu presenc founder effect egypt strengthen genotyp phenotyp correl | D010641 | T032 |
34,680,902 | gwas meta analysi reveal share gene biolog pathway major depress disord insomnia major depress disord mdd one preval disabl mental disord worldwid among symptom mdd sleep disturb insomnia promin first reason patient may seek profession help howev under pathophysiolog comorbid still elus recent genom wide associ studi gwas begun unveil genet background sever psychiatr disord includ mdd insomnia identifi share genom risk loci comorbid psychiatr disord could valuabl strategi understand comorbid studi seek identifi share gene biolog pathway mdd insomnia base share genet variant first perform meta analysi base gwas summari statist mdd insomnia obtain psychiatr genom consortium uk biobank respect next associ share genet variant gene use two gene map strategi posit map base genom proxim b express quantit trait loci eqtl map base gene express linkag across multipl tissu result total share gene identifi half protein code gene function enrich analysi show enrich biolog pathway relat epigenet modif sensori percept immunolog signatur also identifi druggabl target use network approach togeth result may provid insight understand genet predisposit under biolog pathway comorbid mdd insomnia symptom | D040641 | T028 |
34,680,896 | novel qtl candid gene associ progress motil franch montagn stallion spermatozoa thaw use frozen thaw semen import reproduct tool preserv biodivers small nativ hors breed franch montagn fm howev stallion produc cryotoler semen progress motil thaw improv understand genet background male fertil trait fresh frozen thaw semen perform genom wide associ studi gwas gel free volum sperm cell concentr total sperm count progress motil fresh frozen thaw semen fm stallion use genom wide singl nucleotid polymorph snps identifi one signific p quantit trait locus qtl eca within scna gene progress motil thaw previous associ progress motil boar homozyg stallion show substanti drop progress motil thaw qtl could use identifi cryointoler stallion avoid cost cryopreserv process studi need confirm whether qtl also present hors breed | D005615;D040641 | T070;T028 |
34,680,895 | genet character current model system prognost stratif pax fusion negat vs pax fusion posit rhabdomyosarcoma rhabdomyosarcoma rms common soft tissu sarcoma children adolesc account approxim soft tissu sarcoma adult subcategor distinct subtyp base histolog featur fusion status pax foxovgllncoa despit advanc understand pathobiolog molecular landscap rms prognosi tumor signific improv recent year develop better understand genet abnorm risk stratif beyond fusion status crucial develop better therapeut strategi herein aim highlight genet pathwaysabnorm involv specif fusion negat rms assess current avail model system studi rms pathogenesi discuss avail prognost factor well import risk stratif achiev optim therapeut manag | D050939;D008954 | T063;T075 |
34,680,894 | ckm gene rs polymorph power athlet status multipl genet variant known influenc athlet perform includ polymorph muscl specif creatin kinas ckm gene associ endur andor power phenotyp howev independ replic requir support find aim present studi determin whether ckm rs c g polymorph associ power athlet status profession russian lithuanian competitor genom dna collect nation intern standard athlet russia n lithuania n healthi non athlet subject russia n lithuania n genotyp ckm rs ag polymorph perform use pcr micro array analysi genotyp allel frequenc compar athlet non athlet non athlet athlet segreg accord popul sport disciplin anaerob type event statist signific differ genotyp allel frequenc observ non athlet power athlet strength sprint speedstrength orient athlet present studi report non associ ckm rs elit status athlet sport anaerob energi pathway determin success | D054874;D020641;D013177 | T086;T056;T055 |
34,680,893 | mia splice defect cane corso dog dental skelet retin anomali dsra investig hereditari syndrom cane corso dog affect dog develop dental skelet retin anomali dsra clinic character brittl discolor transluc teeth disproportion growth progress retin degener result vision loss combin linkag homozygos map delin mb critic interv comparison whole genom sequenc data affect dog control genom reveal privat homozyg splice region variant critic interv affect mia gene encod mia sh domain er export factor essenti role export collagen secret protein identifi variant xm cdel lead skip two exon wild type transcript xm rdel genotyp variant consist monogen autosom recess mode inherit complet famili show perfect genotyp phenotyp associ affect unaffect cane corso dog mia variant previous shown caus relat phenotyp human mice data dog togeth exist function knowledg mia variant mammalian speci suggest mia splice defect near complet loss gene function causat molecular pathomechan dsra phenotyp investig dog | D012326 | T045 |
34,680,892 | il polymorph relat obes paramet physic activ young men interleukin il cytokin pro anti inflammatori action also consid metabol hormon involv immun respons affect glucos protein lipid metabol propos relat obes various result present thus studi homogen popul young male militari profession live condit involv high physic activ select avoid influenc environment factor subject divid group depend obes paramet bmi bodi mass index fat percentag fat follow il snps singl nucleotid polymorph analyz rs rs rs relat found obes paramet il polymorph rs rs rs may postul even genet predisposit involv il gene effect individu obes low grade minor avoid least mark reduc chang lifestyl | D010809;D020641 | T086;T078 |
34,680,891 | explor semi quantit metagenom studi use oxford nanopor sequenc comput experiment protocol gut microbiom play major role chronic diseas sever character alter composit divers bacteri communiti larg scale sequenc project allow character perturb communiti howev translat discoveri clinic applic remain challeng facilit routin implement microbiom profil clinic set portabl real time low cost sequenc technolog need propos comput experiment protocol whole genom semi quantit metagenom studi human gut microbiom oxford nanopor sequenc technolog ont could appli microbi ecosystem develop bioinformat protocol analyz ont sequenc taxonom function optim preanalyt protocol includ stool collect dna extract method maxim read length critic paramet sequenc align classif protocol evalu use simul metagenom communiti reflect natur occur composit variat next valid protocol use stool sampl bariatr surgeri cohort sequenc ont illumina solid technolog result reveal similar divers microbi composit profil protocol implement clinic research set bring rapid person whole genom profil target microbiom speci | D056186 | T091 |
34,680,890 | genom wide associ studi milk somat cell score romanian dairi cattl mastiti one frequent encount diseas dairi cattl negat affect anim welfar milk product reason contribut understand genom architectur great interest genom wide associ studi gwas identifi multipl loci associ somat cell score scs mastiti cattl howev studi conduct differ part world various breed none investig studi genet architectur mastiti romanian dairi cattl breed point time studi report first gwas scs dairi cattl breed romania gwas use axiom bovin v snp chip singl nucleotid polymorph snps record cow belong romanian spot rs romanian brown rb cattl result found one snp signific associ scs rs breed suggest snps log p rs rb marker locat near known gene akap clhc megf satb gata spata cola ep luzp ramac ila ankrd rb cattl marker close zdhhc dapk mmp gene one snp overlap herc gene rs cattl four gene herc luzp akap megf associ scs studi previous report differ studi signific snp rs associ scs locat within herc gene breed snps posit associ signal distinct among three pariti denot mastiti control differ gene depend accord pariti current result contribut expans bodi knowledg regard proport genet variabl explain snps scs dairi cattl | D020022 | T032 |
34,680,889 | homozyg akna frameshift variant associ microcephali pakistani famili primari microcephali mcph prenat condit small brain size vari degre intellectu disabl heterogen genet disord associ gene report far gene encod centrosom protein recent akna recogn novel centrosom protein regul neurogenesi via microtubul organ make akna like candid gene mcph use linkag analysi whole exom sequenc found frameshift variant exon akna nm cdelg cosegreg microcephali mild intellectu disabl speech impair consanguin famili pakistan variant predict result protein truncat c terminus p gluargf shown indispens akna local centrosom normal brain develop moreov amino acid sequenc alter begin second two pest domain rich prolin p glutam acid e serin threonin common rapid degrad protein impair function pest domain may affect intracellular half life protein genet find compel substanti predict candidaci base newli ascrib function featur multifacet protein akna associ mcph | D020022 | T032 |
34,680,886 | singl base insert f caus hemophilia b famili newfoundland parti standard poodl hybrid dog hemophilia b x link recess hereditari coagulopathi report various speci describ male newfoundland parti standard poodl hybrid puppi famili hemophilia b clinic manifest molecular genet defect index case present dyspnea found mediastin hematoma surgic remov transfus support brought relief progress hematoma format led human euthanasia sequenc f exon reveal singl nucleotid insert result frameshift last exon nm cinsa predict result prematur stop codon np pasnlysfst loss amino acid unexpect high residu plasma factor ix activ control like erron studi perform purebr newfoundland dam sister heterozyg insert five addit male offspr develop sever hemorrhag hemizyg f variant andor prolong aptt contrast male litterm normal aptt evid bleed relat common newfoundland granddam preval pathogen variant newfoundland breed current unknown clinic molecular genet studi illustr precis medicin achiev clinic companion anim practic | D020022 | T032 |
34,680,883 | prkg splice site variant dogo argentino dog disproportion dwarfism dwarfism phenotyp occur mani speci may caus genet environment factor studi investig famili nine dogo argentino dog two dog affect disproportion dwarfism radiograph affect dog reveal decreas level endochondr ossif growth plate prematur closur distal ulnar physe pedigre dog present evid monogen autosom recess inherit combin linkag homozygos map assign like posit potenti genet defect genom segment total mb genom affect dog sequenc compar control genom priorit privat variant reveal clear top candid variant observ dwarfism variant prkg xm cg affect splice donor site therefor predict disrupt function pkrg gene encod protein kinas cgmp depend type known regul chondrocyt differenti genotyp prkg variant perfect associ phenotyp studi famili dog prkg loss function variant previous report caus disproportion dwarfism human cattl mice rat togeth compar data speci data strong suggest prkg cg candid causat variant observ dwarfism phenotyp dogo argentino dog | D020022 | T032 |
34,680,878 | import extend analysi use current molecular genet method base exampl cohort patient hereditari breast ovarian cancer syndrom women breast cancer increas number case breast cancer observ famili histori howev current breast cancer case attribut pathogen gene alter molecular genet diagnost underw enorm develop within last year next generat sequenc approach allow increas extens analys result identif addit candid gene present work germlin molecular diagnost analysi cohort patient suspect hereditari breast ovarian cancer syndrom hboc evalu pathogen gene variant initi detect list distribut high risk brca brca gene present studi ten high risk patient date pathogen variant could detect extend genet analysi previous consid risk gene perform three variant uncertain signific one pathogen variant could describ prove import extend analysi use current molecular genet method | D057089 | T091;T059 |
34,680,877 | suicid relat phenotyp bipolar sampl genet underpin suicid bipolar disord bd relev clinic concern genet may shape individu risk suicid behavior bd togeth known clinic factor lack consist replic bd may associ multigenet compon present contribut analyz sampl bd individu step bd databas identifi genet variant potenti associ three differ suicid relat phenotyp feel life worth live fantasi commit violent suicid previous attempt suicid sampl analysi includ bd individu none snps reach genom wide signific howev trend associ evidenc rs intron variant aopep gene associ phenotyp p molecular pathway analysi show signific enrich investig phenotyp pathway relat post synapt signal neurotransmiss neurodevelop notch signal aminobutyr acid gaba ergic signal found associ specif suicid relat phenotyp present investig contribut hypothesi genet architectur suicid behavior bd relat alter entir pathway rather singl gene particular molecular pathway analysi point specif molecular event could focus research field | D020022;D059020 | T032;T033 |
34,680,875 | myoa frameshift variant miniatur dachshund coat color dilut neurolog defect resembl human griscelli syndrom type month old femal smooth hair miniatur dachshund dilut color neurolog defect investig aim studi character clinic sign histopatholog chang under genet defect puppi visibl coat color dilut unabl hold head remain stabl prone posit extend period histopatholog examin reveal accumul clump melanin deposit accumul keratin within hair follicl accompani dermal pigmentari incontin dermatolog chang compat histopatholog describ dog mlph relat dilut coat color sequenc genom affect dog compar data control genom myoa code myosin va investig top function candid gene search reveal privat homozyg frameshift variant myoa xm cinsa predict truncat amino acid wild type myosin va protein xp p asnlysf genotyp index famili show expect co segreg phenotyp mutant allel absent addit genotyp unrel dachshund dog myoa loss function variant caus griscelli type syndrom human lavend foal hors phenotyp dilut mous mutant base avail data togeth current knowledg speci propos identifi myoa frameshift insert candid causat variant observ dermatolog neurolog sign investig dog | D020022 | T032 |
34,680,873 | trend applic omic ecotoxicolog stress ecolog abil predict assess environment chang pollut climat chang affect compon earth biom paramount import need posit field ecotoxicolog stress ecolog center environment monitor effort advanc interdisciplinari field depend conceptu leap also technolog advanc data integr high throughput omic technolog enabl measur molecular chang virtual level organ biolog organ thus continu influenc impact stressor understood bibliometr review describ literatur trend indic differ stressor speci studi year stressor studi two phyla time molecular respons divers set non model speci investig cross speci comparison still rare transcriptom studi domin shift toward proteom multiom studi appar wealth data function omic level mani phylogenet divers speci review therefor address question integr omic inform across speci | D055432;D040901 | T091 |
34,680,867 | formalin fix paraffin embed sampl next generat sequenc problem solut year increas inform ask pathologist move pure morpholog diagnosi biomolecular genet studi made possibl implement use molecular target therapi anti epiderm growth factor receptor egfr molecul egfr mutat lung cancer exampl today next generat sequenc ngs chang approach neoplasm extent short time gain place absolut import diagnost prognost therapeut util scenario formaldehyd fix paraffin embed ffpe biolog tissu sampl sourc clinic molecular inform howev problem aris genet materi dna rna use ngs due fixat work devot possibl strategi reduc effect paper discuss applic ffpe tissu sampl execut ngs focus problem aris use type materi nucleic acid extract final consid use strategi prevent reduc singl nucleotid polymorph snv fixat artifact | D016612 | T059 |
34,680,864 | myocardi deform analysi mybpc myh relat sarcomer hypertroph cardiomyopathi graz hypertroph cardiomyopathi registri accumul evid suggest individu sarcomer hypertroph cardiomyopathi hcm carri myh mutat may wors prognosi mybpc mutat carrier myocardi deform analysi superior standard echocardiographi detect subtl myocardi dysfunct scar format studi evalu associ hcm genotyp scarc therefor aim compar myocardi strain paramet mybpc myh mutat carrier proven hcm particip prospect graz hcm registri carri least one causat mutat mybpc n myh n enrol mybpc mutat carrier older predomin male often treat implant cardiovert defibril vs p use analys covari signific differ mybpc myh mutat carrier regard left ventricular global longitudin strain estim margin mean standard deviat vs p right ventricular segment endocardi strain vs p studi suggest myocardi deform analysi may help conclud under hcm genotyp vice versa | D020022 | T032 |
34,680,862 | analysi codon usag pattern six sequenc brachypodium distachyon line reveal declin cg skew cdss end end brachypodium distachyon new monocotyledon model plant receiv wide attent biolog research due small genom numer genet resourc codon usag bias import featur gene genom use transgen evolutionari studi studi nucleotid composit pattern codon usag bias calcul use codon w addit enc plot pariti rule correspond analys use explor major factor influenc codon usag bias pattern number hydrogen bond skew use analyz gc trend end code sequenc result show minor differ codon usag bias pattern reveal enc plot pariti rule correspond analys analys cg skew number hydrogen bond show declin trend number cytosin end cdss end end indic gc may play major role codon usag bias addit result laid foundat studi codon usag bias pattern brachypodium genus suggest gc play major role determin pattern | D019143 | T038 |
34,680,861 | evolutionari relev social learn transmiss non social arthropod focus oviposit relat behavior research social learn center around vertebr evid accumul small brain non social arthropod also learn other social learn lead social inherit social acquir behavior transmit subsequ generat use oviposit site select critic behavior arthropod exampl first highlight complementar social classic genet inherit discuss relev studi social learn transmiss non social arthropod document known case literatur includ exampl social learn con hetero specif highlight condit social learn adapt conclud non social arthropod studi oviposit behavior offer unparallel opportun unravel import social learn inherit anim evolut | D005075;D010058 | T040;T045 |
34,680,860 | role digit health artifici intellig inflammatori bowel diseas scope review inflammatori bowel diseas ibd subdivid crohn diseas cd ulcer coliti uc chronic diseas character relaps remit period inflamm gastrointestin tract recent year amount research surround digit health dh artifici intellig ai increas purpos scope review explor grow field research summar role dh ai diagnosi treatment monitor prognosi ibd review articl reveal impact ai algorithm dh technolog ai algorithm improv diagnost accuraci assess diseas activ predict treatment respons base data modal endoscop imag genet data term dh patient util dh platform experienc improv qualiti life diseas literaci treatment adher medic manag addit dh method reduc need person appoint decreas use healthcar resourc without compromis standard care articl demonstr preliminari evid potenti dh ai improv manag ibd howev major studi perform regul clinic environ therefor valid result real world environ requir assess efficaci method general ibd popul | D001185 | T066;T073;T090 |
34,680,859 | genet transcript profil analysi tissu specif anthocyanin pigment carrot root phloem purpl carrot anthocyanin pigment express entir root display tissu specif pattern within phloem purpl pigment found outer phloem op also call cortex inner phloem ip confin exclus op work genet control under tissu specif anthocyanin pigment carrot root op ip tissu investig mean linkag map transcriptom rna seq phylogenet analys follow gene express rt qpcr evalu two genet background f popul inbr b genet map root outer phloem anthocyanin pigment ropap inner phloem pigment ripap reveal coloc ropap p p genom region previous known condit pigment differ genet stock wherea ripap co local p transcriptom analysi purpl op pop vs non purpl ip npip tissu along linkag phylogenet data allow initi identif candid gene evalu rt qpcr independ root sampl b reveal gene consist upregul pop genet background two gene upregul pop specif background includ seven transcript factor seven anthocyanin structur gene two gene involv cellular transport altogeth result point dcmyb dcmyb mad box dcar main candid gene condit ropap wherea dcmyb mad box condit ripap background dcmyb condit ropap | D020869 | T059;T063 |
34,680,858 | genet divers related among captiv african paint dog north america african paint dog lycaon pictus apd high endang fewer remain natur captiv breed program preserv genet divers popul provid sourc individu reintroduct howev program initi founder suffer low genet divers inbreed aim studi use molecular marker assess genet variat inbreed related among apd north american captiv popul use data realign studbook record compar data wild popul european captiv popul facilit develop global manag plan sequenc mitochondri major histocompat mhc class ii loci genotyp microsatellit loci apd institut north america identifi three like studbook error resolv ten case uncertain patern overal microsatellit heterozygos higher report europ effect popul size estim lower mitochondri sequenc variat extrem limit fewer mhc haplotyp europ wild although popul show evid signific inbreed overal sever individu share high related valu incorpor futur breed program | D014644 | T070 |
34,680,857 | differenti diagnosi marfan syndrom loey dietz syndrom type novel chromosom delet cover tgfb marfan syndrom mfs loey dietz syndrom type lds two hereditari connect tissu disord mfs display ectopia lenti distinguish characteris featur thorac aortic ectasia aneurysm dissect system featur manifest overlap lds lds characteris presenc hypertelor cleft palat andor bifid uvula possibl ectasia aneurysm arteri variabl age onset clinic manifest make clinic diagnosi difficult studi report case patient marfan syndrom diagnos centr age basi typic clinic manifest syndrom age appear ectasia left common iliac arteri tortuos iliac arteri suggest presenc lds next generat sequenc ngs analysi follow array cgh allow detect novel chromosom delet includ entir tgfb gene confirm clinic suspicion lds also clinic phenotyp associ haploinsuffici mechan turn associ delet entir gene mutat detect two young son emblemat case confirm must care differenti diagnosi two patholog especi age young subject suspect affect mfs particular must verifi diagnosi extend genet analysi necessari search chromosom alter recent ectopia lenti report patient lds confirm tight overlap two syndrom accur revis clinic paramet characteris overlap two patholog high desir | D002872 | T049 |
34,680,856 | transcriptom analysi vitro fertil parthenogenesi activ earli embryon develop pig parthenogenesi activ pa import artifici breed method stabli preserv domin genotyp speci howev delay develop pa embryo still over sever larg lead pre implant failur pig mechan under defici pa embryo complet understood understand molecular mechan behind pa embryo failur perform transcriptom analysi among pig oocyt meiosi ii mii earli embryo three development stage zygot morula blastocyst vitro fertil ivf pa group total differenti express gene deg differenti express lincrna del identifi deg enrich regul apoptot process cis tran manner function predict found hub lincrna most involv abnorm parthenogenesi embryon develop addit twenti de imprint gene show patern imprint gene ivf display higher express pa notabl identifi three del imprint gene mest plagl dira regul ivf signific chang pa group disord express key gene embryon develop might play key role abnorm parthenogenesi embryon develop studi indic embryo deriv differ product techniqu vari vitro develop blastocyst stage also affect transcript level correspond gene imprint gene work help futur research gene molecular assist breed pig parthenot | D005307;D020869 | T010;T059;T063;T061 |
34,680,173 | angiogen potenti vegf mimet peptid biofunction collagenhydroxyapatit composit current focus bioinspir concept develop tissu engin construct increas purpos combin collagen coll hydroxyapatit ha come closest natur composit bone order confer angiogen properti scaffold materi vascular endotheli growth factor vegf frequent use present studi use vegf mimet peptid qk modifi qk peptid poli glutam acid tag e qk enhanc bind ha analyz detail bind effici angiogen properti detect signific higher bind effici e qk peptid hydroxyapatit particl compar unmodifi qk peptid tube format assay reveal similar angiogen function e qk peptid induc entir vegf protein analys gene express angiogen factor receptor flt kdr hgf met il hif mmp igfbp igfbp vcam angpt show higher express level huvec cultur presenc e qk vegf compar detect negat control group without angiogen stimuli contrast express anti angiogen gene timp show lower mrna level huvec cultur e qk vegf sprout assay huvec spheroid within collha qk scaffold show signific longer sprout compar induc within collhaqk collha scaffold result demonstr signific better function e qk peptid electrostat bound hydroxyapatit particl compar unmodifi qk peptid conclud use e qk peptid repres excel suit biomolecul generat collagenhydroxyapatit composit angiogen properti | D023822 | T061 |
34,680,165 | decod stem cell overview planarian stem cell heterogen lineag progress planarian flatworm capabl whole bodi regener abl regrow miss bodi part injuri amput extraordinari regen capac planarian base upon presenc adult larg popul somat pluripot stem cell cell call neoblast offer uniqu system studi process stem cell specif differenti vivo recent year fac base isol neoblast rnai function analys well high throughput approach singl cell sequenc allow rapid progress understand mani differ aspect neoblast biolog summar current knowledg molecular signatur defin planarian neoblast heterogen includ percentag truli pluripot stem cell guid commit pluripot neoblast lineag specif progenitor cell well differenti specif planarian cell type | D018740;D013234 | T032;T025;T081 |
34,680,164 | microrna metabol revisit warburg effect emphasi epigenet background clinic applic sinc well known hallmark cancer describ hanahan weinberg fundament advanc molecular genom technolog result discoveri novel puzzl piec multistep pathogenesi cancer microrna involv alter epigenet pattern metabol phenotyp malign transform cell contribut initi progress metastasi format cancer also interact oncogen tumor suppressor gene epigenet modifi metabol reprogram cancer cell result dysregul complex network microrna locat central hub microrna regul express sever metabol enzym includ tumor specif isoform therefor direct impact level metabolit also influenc epigenet pattern due metabolit cofactor chromatin modifi target microrna includ numer epigenet enzym sirtuin key regul cellular metabol homeostasi better understand revers epigenet metabol alter open new horizon person treatment cancer microrna express level util differenti diagnosi prognosi stratif predict chemoresist therapeut modul microrna level area particular interest provid promis tool restor alter metabol cancer cell | D000082802 | T039 |
34,680,162 | order meet disord model function protein interfac fuzzi complex degre protein structur organ rang high structur compact fold intrins disord degre self organ correspond specif function well organ structur motif enzym offer proper environ precis posit function group particip catalyt reaction end self organ spectrum intrins disord protein act bind hub via format multipl transient often non specif interact review focuss case structur organ protein domain associ high disord protein chain lead format interfac vari degre fuzzi present review comput method develop provid us inform fuzzi interfac integr experiment inform discuss focuss two specif case microtubul homolog recombin nucleoprotein filament network intrins disord tail exert regulatori function recruit partner macromolecul protein dna tune atom level associ notabl show comput approach molecular dynam simul bring new knowledg help bridg gap experiment analysi most concern ensembl properti behavior individu disord protein chain contribut regul function | D017510 | T044 |
34,680,160 | integr multi omic biomed research genom technolog revolution biomedicin complex biolog system explain genom alon | D023281;D055432;D040901 | T091 |
34,680,157 | apoptosi quantif tissu develop semi automat protocol assess critic step imag process apoptosi associ numer phenotyp characterist thus studi mani tool studi compar two broad use apoptot assay tunel stain antibodi target activ form effector caspas compar develop protocol base common use tool imag filter z project threshold even though common use imag process protocol threshold remain recur problem analyz impact process paramet readout choic accuraci apoptot signal quantif result show tunel quit robust even imag process paramet may alway allow detect subtl differ apoptot rate contrari imag anti cleav caspas stain sensit handl necessit process care develop open sourc fiji macro automat step imag process quantif protocol noteworthi field applic macro wider apoptosi use treat quantifi kind imag | D007091 | T066 |
34,680,154 | preval manag alkyl methoxypyrazin chang climat viticultur oenolog consider alkyl methoxypyrazin import class odor activ molecul contribut green unrip charact wine consid undesir wine style natur occur grape metabolit mani cultivar also deriv coccinellida speci ladybug inadvert introduc must harvest oper project impact climat chang discuss conclud includ alter alkyl methoxypyrazin composit grape wine mani wine region thus care consider manag vineyard wineri import time review bring togeth relev literatur viticultur oenolog intervent aim mitig alkyl methoxypyrazin load make recommend manag aim maintain wine qualiti chang challeng climat | D057231 | T070 |
34,680,150 | hyaluron acid key ingredi therapi inflamm hyaluron acid ha natur polym produc endogen human bodi uniqu physicochem biolog properti exhibit desir biocompat biodegrad therefor wide studi possibl applic area inflammatori diseas although exogen ha describ unabl restor replac properti activ endogen ha still provid satisfactori pain relief review aim discuss advanc achiev treatment inflammatori diseas use hyaluron acid key ingredi essenti focus studi carri year | D016503 | T074 |
34,680,149 | advanc challeng qtl analysi gwas plant breed high yield focus rapese yield one import agronom trait breed rapese brassica napus l genet dissect format high yield remain enigmat given rapid popul growth present review review discoveri major loci under import agronom trait recent advanc select complex trait discuss benchmark summari high throughput techniqu high resolut genet breed rapese biparent linkag analysi associ map becom power strategi comprehend genet architectur complex agronom trait crop generat improv crop varieti especi rapese great urg enhanc yield product sens whole genom sequenc rapese becom achiev clone identifi quantit trait loci qtls moreov generat high throughput sequenc genotyp techniqu signific enhanc precis qtl map genom wide associ studi gwas methodolog furthermor studi demonstr first attempt identifi novel qtls yield relat trait specif focus ovul number per pod also highlight recent breakthrough concern singl locus gwas sl gwas multi locus gwas ml gwas aim enhanc potenti robust control gwas improv complex trait | D055106 | T063 |
34,680,146 | promis intracellular protein degrad strategi trimbodi away techniqu base nanobodi fragment recent technolog term trim away allow acut rapid destruct endogen target protein cultur cell use specif antibodi endogenousexogen tripartit motif trim howev relat larg size full size mab kda result correspond low tissu penetr inaccess steric hinder epitop limit target protein degrad addit exogen introduct trim may caus side effect treat cell tackl limit sought replac full size mab smaller format antibodi nanobodi vhh kda construct new type fusion protein name trimbodi fuse nanobodi rbcc motif trim next introduc enhanc green fluoresc protein egfp model substrat generat egfp trimbodi use bispecif anti egfp egfp nanobodi remark induc express egfp trimbodi could specif degrad intracellular egfp hekt cell time depend manner treat cell inhibitor found intracellular egfp degrad egfp trimbodi reli ubiquitin proteasom autophagi lysosom pathway taken togeth result suggest trimbodi away technolog could util specif degrad intracellular protein could expand potenti applic degrad technolog | D059748 | T040;T044 |
34,680,145 | cytokinin base tissu cultur stabl medicin plant product regener phytochem profil salvia bulleyana shoot salvia bulleyana rare chines medicin plant due presenc polyphenol lower risk chronic diseas especi relat cardiovascular system present studi examin organogen compet various combin concentr plant growth regul develop effici protocol vitro regener bulleyana via leaf explant maintain high product activ constitu purpos studi also assess possibl use cytokinin base regener effect produc therapeut compound adventiti shoot format observ direct organogenesi media purin deriv meta topolin mt benzylaminopurin bap indirect organogenesi media urea deriv tidiazuron tdz forchlorfenuron cppu highest regener frequenc shoot per explant obtain leav cultur murashig skoog ms medium contain mgl naphthalen acet acid naa mgl bap follow inter simpl sequenc repeat issr marker base profil obtain organogen shoot line reveal similar band pattern mother line total variabl indic high level genet stabil similar genet profil studi line translat similar growth paramet moreov hplc analysi reveal qualit differ profil bioactiv metabolit also total polyphenol content similar differ line except shoot obtain presenc cppu produc higher level bioactiv compound first report effect rapid vitro organogenesi protocol bulleyana effici employ obtain stabl cultur rich bioactiv metabolit | D046509 | T059 |
34,680,137 | dipend open sourc pipelin generat ensembl disord segment use neighbor depend backbon prefer ensembl base structur model flexibl protein segment intrins disord region complex task often solv select conform initi pool base conform experiment data howev properti conform pool crucial sampl conform space suffici optim case relat uniform word ideal sampl effici exhaust achiev special tool usual necessari might maintain long term avail platform flexibl enough tweak individu need present open sourc extend pipelin generat initi protein structur pool use select base tool obtain ensembl model flexibl protein segment method implement python use chimerax scwrl gromac neighbor depend backbon distribut compil publish previous dunbrack lab tool data public avail maintain basic premis use residu specif neighbor depend ramachandran distribut enhanc effici explor relev region conform space also provid straightforward way bias sampl toward specif conform select residu combin differ conform distribut allow consider priori known conform prefer case preform structur element open sourc modular natur pipelin allow easi adapt specif problem test pipelin intrins disord segment protein cd also singl alpha helic sah region generat conform pool select ensembl match experiment data use consensx server | D019295 | T091 |
34,680,133 | red blood cell thermodynam behavior neurodegen patholog age main trend current research neurodegen diseas ndds direct toward discoveri novel biomark diseas diagnost progress patholog featur ndds suggest diagnost marker found peripher fluid cell herein investig thermodynam behavior peripher red blood cell rbcs deriv patient diagnos three common ndds parkinson diseas pd alzheim diseas ad amyotroph later sclerosi al compar healthi individu evalu fresh age rbcs establish ndds differenti normal healthi state basi variat thermodynam paramet unfold major rbcs protein cytoplasm hemoglobin hb membran band b protein common featur ndds higher thermal stabil hb b protein along rbcs age calorimetr enthalpi distinguish pd al ad data provid insight rbcs thermodynam behavior two complex tight relat phenomena neurodegen patholog age suggest determin thermodynam paramet fingerprint alter conform hb b protein modifi rbcs age studi ndds | D013816 | T090 |
34,680,132 | confoc endomicroscopi neuromuscular junction stain physiolog inert protein fragment tetanus toxin live imag neuromuscular junction nmjs situ constrain suitabl ligand inert vital stain motor nerv termin construct sever truncat deriv tetanus toxin c fragment tetc fuse emerald fluoresc protein emgfp four construct name full length emgfp tetc emgfp tetc truncat compris amino acid emgfp tetc emgfp tetc emgfp tetc produc select high contrast stain motor nerv termin rodent human muscl explant isometr tension intracellular record endplat potenti mous muscl indic neither full length truncat emgfp tetc construct signific impair nmj function transmiss motor nerv termin stain emgfp tetc construct readili visualis situ isol prepar use fibr optic confoc endomicroscopi cem emgfp tetc deriv cem also visualis regener nmjs dual waveband cem imag prepar co stain fluoresc emgfp tetc construct alexa bungarotoxin resolv innerv denerv nmjs axotom wlds mous muscl degener nmjs transgen sodga mous muscl find highlight region tetc fragment requir select bind visualis motor nerv termin show fluoresc deriv tetc suitabl situ morpholog physiolog characteris healthi injur diseas nmjs | D018613 | T059 |
34,680,130 | alcohol induc lysosom damag suppress lysosom biogenesi contribut hepatotox hiv expos liver cell although caus hepatotox among alcohol abus hiv patient multifactori alcohol remain least explor second hit hiv relat hepatotox investig whether metabol deriv acetaldehyd impair lysosom enhanc hiv induc hepatotox expos cytochrom p e cype express huh also known rlw cell acetaldehyd generat system ag h infect cell hiv ada expos ag anoth h lysosom damag assess galectin lamp co local cathepsin leakag express lysosom biogenesi transcript factor tfeb measur protein level situ immunofluoresc exposur cell ag hiv caus greatest amount lysosom leakag impair lysosom biogenesi lead intrins apoptosi furthermor movement tfeb cytosol nucleus via microtubul impair ag exposur latter impair appear occur acetyl tubulin moreov zkscan repressor lysosom gene activ tfeb amplifi ag chang contribut ag elicit disrupt lysosom biogenesi find indic metabol generat acetaldehyd damag lysosom like prevent repair restor therebi exacerb hiv induc hepatotox | D001678 | T043;T070 |
34,680,125 | inhibit cnot induc apoptosi via midip colorect cancer cell activ p ccr transcript complex subunit cnot subunit ccr complex describ cancer progress cnot complex play import role multipl cellular function recent studi laboratori show cnot promot breast cancer cell prolifer angiogenesi addit cnot signal critic relat apoptosi induc atorvastatin lung cancer cell furthermor deplet cnot shown enhanc antitumor effect midlin interact protein midip deplet thus inhibit c myc express liver cancer cell howev molecular mechan relat oncogen role remain unclear herein first time report cnot inhibit induc apoptosi colorect cancer cell activ p inhibit cnot mark induc apoptosi various cancer cell like wild type p furthermor inhibit cnot elong p half life previous laboratori demonstr midip promot coloc c myc mediat cnot interest inhibit cnot induc p express without midip apoptosi cancer cell conclus result demonstr cnot inhibit induc apoptosi midip activ p | D017209 | T043;T116;T123 |
34,680,124 | biolog profil two gentiana lutea l metabolit use comput approach vitro test natur product main sourc bioactiv molecul centuri test biolog profil two metabolit extract gentiana lutea l mean comput techniqu vitro assay two molecul logan acid gentiopicrosid test silico use innov techniqu name invers virtual screen iv highlight putat partner among panel protein involv inflamm cancer event posit bind cyclooxygenas cox alpha antichymotrypsin alpha acid glycoprotein emerg comput experi outcom promis interact cox confirm western blot highlight reliabl iv field natur product | D019295;D055442 | T091;T070;T039 |
34,680,121 | degrad poli caprolacton thermophil communiti brevibacillus thermorub strain isol bulgarian hot spring continu plastic accumul environ hazard consequ determin interest thermophil possibl effect plastic degrad due uniqu metabol mechan chang plastic properti elev temperatur pcl one major biodegrad plastic promis applic replac exist non biodegrad polym metagenom analysi phylogenet divers plastic contamin area marikostinovo hot spring bulgaria reveal higher number taxonom group sampl enrich without plastic marikostinovo communiti control sampl mkc c enrich presenc poli caprolacton pcl mkc p strong domin phylum proteobacteria observ mkc c domin phyla mkc p deinococcus thermus firmicut among strain isol mkc p highest esteras activ regist brevibacillus thermorub strain c co cultiv anoth isol result increas enzym activ day biodegrad process decreas pcl molecular weight weight loss establish result degrad mkc p strain pcl degrad intermedi profil mkc p pure strain similar broken plastic piec pcl surfac format biofilm mkc p observ sem pure strain caus signific deform pcl probe without biofilm format | D013696 | T081 |
34,680,120 | dna end join g ing core human evolv seri dna doubl strand break dsb repair pathway effici accur rejoin nascent form pair doubl strand dna end dses gg phase cell non homolog end join nhej altern end join ej oper support coval rejoin dses nhej predomin util collabor extens dna damag respons ddr support pair dses much less known ej collabor ddr factor nhej absent non cycl lymphocyt progenitor cell use nhej complet v j recombin antigen receptor gene initi rag endonucleas hold pair target dsbs synaps specifi pair dses hand nhej dsb sensor complex ku similar design endonucleas dsbs absenc ku allow ej access rag dses random pair complet repair describ recent insight major phase dsb end join emphasi synapsi tether mechan bring togeth new old concept nhej vs ej rag mediat repair pathway choic | D059766;D016192 | T045 |
34,680,119 | revisit jatropha curca monomer esteras dienelacton hydrolas compat electrostat catapult model jatropha curca contain seed high oil content suitabl biodiesel product oil extract remain mass rich sourc enzym howev data literatur describ physicochem characterist monomer esteras j curca seed fit electrostat catapult model esteraseslipas decid reevalu j curca esteras extend character check appar discrep gain insight enzym potenti biocatalyst anion exchang chromatographi two dimension gel electrophoresi identifi enzym belong dienelacton hydrolas famili character cystein nucleophil catalyt triad enzym display basic optimum hydrolysi ph acid pi rang contrast literatur data make well line electrostat catapult model furthermor enzym show low hydrolysi activ organ solvent contain medium isopropanol acetonitril ethanol revert recov aqueous reaction mixtur enzym valuabl tool hydrolysi reaction short chain ester use pharmaceut intermedi synthesi due high hydrolyt rate basic ph stabil organ solvent | D008958;D055672 | T070;T170 |
34,680,118 | protocatechu acid simpl plant secondari metabolit induc apoptosi promot oxid stress ho downregul p upregul colon cancer cell gastrointestin cancer particular colorect cancer main influenc dietari factor diet rich fruit veget help reduc incid colorect cancer thank phenol compound possess antimutagen anticarcinogen properti polyphenol alongsid well known antioxid properti also show pro oxid potenti make possibl sensit tumor cell oxid stress ho combin antioxid activ overexpress cancer cell involv tumor progress inhibit consid feasibl therapeut strategi cancer treatment studi effect protocatechu acid pca viabil colon cancer cell caco annexin v ldh releas reactiv oxygen speci level total thiol content ho glutamylcystein synthetas p express evalu pca induc dose depend manner signific reduc cell viabil caco oxidativeantioxid imbal phenol acid induc modif level ho non proteic thiol group glutamylcystein synthetas reactiv oxygen speci p pca induc pro oxid effect cancer cell vitro pro apoptot effect caco cell mediat modul redox balanc inhibit ho system led activ p result suggest pca may repres use tool prevent andor therapi colon cancer | D017209;D015536;D018384;D064210 | T049;T044;T116;T123;T043 |
34,680,112 | alcohol metabol enrich squamous cell carcinoma cancer stem cell surviv oxid stress via autophagi alcohol ethanol consumpt major risk factor head neck esophag squamous cell carcinoma sccs howev ethanol etoh affect scc homeostasi incomplet understood | D001343;D018384 | T043;T049 |
34,680,101 | recent advanc pancreat cancer novel prognost biomark target therapi review literatur pancreat adenocarcinoma carri devast prognosi local advanc metastat diseas sever chemotherapeut regimen current use past year novel approach includ target egfr ntrk parp k ras well stroma fibrosi lead approv ntrk parp inhibitor moreov immun check point inhibitor differ combin approach involv immunotherapeut agent investig mani clinic trial mirna repres novel tool thought great improv manag allow earlier diagnosi precis guidanc treatment | D058990 | T061 |
34,680,094 | standardis approach biomechan evalu tracheal graft ideal tracheal substitut must biomechan properti compar nativ trachea current standardis approach evalu properti propos novel method evalu compar properti tracheal substitut thus systematis measur data curat system test compar nativ rabbit trachea frozen decellularis specimen determin histolog characterist specimen perform radial compress test anteroposterior tracheal axi longitudin axial tensil test specimen anastomos jaw connect measur system calcul result adjust accord tracheal size alway use variabl relat tracheal dimens thus permit comparison differ size organ biomechan properti decellularis specimen slight reduc compar control signific regard maximum stress withstood longitudin axi mpa ci mpa energi store per volum unit mjmm ci mjmm propos method suitabl systemat characteris biomechan properti differ tracheal substitut regardless size natur substitut thus allow direct comparison | D023822 | T061 |
34,680,093 | descript joint alter observ famili carri pasnser comp variant clinic phenotyp silico predict function impact comp protein stabil review literatur role genet develop osteoarthr well establish molecular base fulli understood describ famili carri germlin mutat comp cartilag oligomer matrix protein associ three distinct phenotyp index case enrol famili form idiopath earli onset osteoarthr screen potenti causal gene osteoarthr identifi heterozyg missens mutat comp cc pasnser absent genom databas locat high conserv residu predict deleteri molecular dynam simul suggest mutat destabil overal comp protein structur consequ calcium releas neighbor calcium bind site mutat report literatur causal sever multipl epiphys dysplasia med howev sign dysplasia present index case mutat also identifi one brother diagnos med secondari osteoarthr sister affect atyp syndrom includ peripher inflammatori arthriti unknown caus without osteoarthr dysplasia articl suggest mutat comp causal idiopath earli onset osteoarthr sever med also associ broad phenotyp variabl alway joint alter | D020022 | T032 |
34,680,091 | antioxid anti inflammatori properti bioavail protein hydrolys lupin deriv agri wast agri food industri generat sever product includ protein rich materi current treat wast lupin speci could sustain altern sourc protein compar crop soybean chickpea protein hydrolys contain bioactiv peptid may act posit diseas prevent treatment inflammatori respons oxid stress underli mani chronic patholog natur treatment approach gain attent altern synthet pharmaceut recent studi shown lupin protein hydrolys lphs could import sourc biopeptid especi sinc demonstr anti inflammatori properti howev due possibl degrad digest brush border enzym clear whether peptid resist intestin absorpt reach bloodstream may exert biolog effect work vitro cellular uptaketransport anti inflammatori antioxid properti lph investig co cultur system intestin epitheli caco cell thp deriv macrophag result indic lph cross human intestin caco monolay exert anti inflammatori activ macrophag locat basement area decreas mrna level product pro inflammatori cytokin remark reduct nitric oxid ros cell base system peptid lph also demonstr preliminari result point underexplor protein hydrolys food product industri novel natur sourc high valu ad biopeptid | D062611 | T167 |
34,680,090 | natur product promis sourc anthelmint drug discoveri parasit nematod infect almost form life human context parasit one major causat factor physic intellectu growth retard develop world agricultur set parasit great econom impact reduct livestock perform control cost main method control devast condit use anthelmint drug unfortun anthelmint drug class avail market signific resist develop parasit speci livestock therefor develop new anthelmint differ mode action critic sustain parasit control futur drug develop pipelin broad limit two type molecul name synthet compound natur plant product compar synthet compound natur product high divers mani histor proven valuabl folk medicin treat various gastrointestin ailment review focus use tradit knowledg base plant extract develop new therapeut lead approach use screen techniqu common bottleneck opportun plant base anthelmint drug discoveri | D055808 | T062 |
34,680,089 | metabolom studi metabol alter induc non steroid anti inflammatori drug mini review non steroid anti inflammatori drug nsaid food drug administr fda approv antipyret anti inflammatori analges drug mitig pain howev associ gastrointestin injuri cardiovascular diseas individu metabolom potenti understand interact host drug nsaid administr disciplin use mani research understand serious side effect nsaid highlight potenti metabolom understand pathogenesi advers event due nsaid administr choic metabolom techniqu bio sampl handl review metabolom studi front nsaid differ biofluid tissu pathway analysi data present publish literatur analysi find tricarboxyl acid cycl tca glycin serin threonin metabol alanin aspart glutam metabol fatti acid metabol alter nsaid like ibuprofen indomethacin naproxen aspirin celecoxib conclus metabolom allow use biolog sampl identifi use pathway involv diseas progress subsequ inform greater understand diseas pathogenesi depth investig associ pathway mention hold potenti drug target side effect mitig | D055432 | T091 |
34,680,085 | comparison isoton activ cell volum regul rat periton mesotheli cell kidney outer medullari collect duct princip cell diseas state mesotheli cell expos variabl osmot condit high osmot stress exert periton dialysi pd fluid contain unphysiolog high concentr glucos result major periton membran transform pd function loss effect isoton entri urea myo inositol hyperton mosmkg medium cell volum primari cultur rat periton mesotheli cell rat kidney outer medullari collect duct omcd princip cell studi hyperton medium rat periton mesotheli cell activ differ mechan cell volum regul presenc isoton urea mm comparison rat kidney omcd princip cell kidney omcd cell inflow urea shrunken cell result restor cell volum shrunken periton mesotheli cell isoton urea inflow caus small volum increas activ regulatori volum decreas rvd isoton myo inositol activ rvd hyperton medium cell type isoton applic osmolyt caus sharp increas intracellular calcium periton mesotheli cell kidney omcd princip cell conclus periton mesotheli cell exhibit rvd mechan challeng myo inositol urea hyperosmolar isoton switch mannitol involv calcium depend control myo inositol effect ident one omcd princip cell wherea urea effect omcd princip cell led rvd induct | D010530 | T061 |
34,680,084 | interact hmgb protein genom impact diseas high mobil group box hmgb protein small architectur dna bind protein regul multipl genom process dna damag repair nucleosom slide telomer homeostasi transcript control normal cellular function impact myriad diseas state includ cancer autoimmun diseas hmgb protein bind dna nucleosom modul local chromatin environ facilit bind regulatori protein factor genom modul higher order chromosom organ numer studi year character structur function interact hmgb protein dna biochem insid cell provid valuabl mechanist insight well evid interact influenc patholog process review highlight recent studi support role hmgb hmgb global organ genom well role transcript regul telomer mainten via interact g quadruplex structur moreov emerg model hmgb protein function rna bind protein present nuclear hmgb protein broad regulatori potenti impact numer aspect cellular metabol normal diseas state | D014158 | T045 |
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