
alberto konbliyatt

alberto konblitt (jananam juun 30,1954) badal raibo nucleic assid spliesingil vaidagdhyamulla oru arjanteeniyan molecular biologistaanu. ooksfoordile francisco baralleyumaayulla thante poost doctoral parisheelanathinidayil, cornblit badal spliesinginte aadya kesukalilonnu rekhappeduthukayum orotta traanskript cheytha jeeninu engane onniladhikam protein vakabhedangal srishtikkaan kazhiyumennu vishadeekarikkukayum cheythu. 2011ll amerikkayile naashanal akkadami oof sayansasinte videsha asosiyettaayi thiranjedukkappetta cornblit, 2013ll bhauthikashaasthranjanaaya juvan martin maldesinaykkoppam eee dashakathile ettavum prasakthamaaya arjanteenayile shaasthranjanulla diamond award nedukayum 2022ll fraansile akkadami dess sciencesil ulppeduthukayum cheythu.
vyakthiparamaaya jeevitam.
konblitt vivaahithanaan, rund muthirnna aanmakkalumund. thante gaveshanathinu purathu, buenos airs sarvakalashaalayil biruda biology vidyaarthikale padippikkaanulla avasarathe konblitt abhinandikkunnu. ozhivusamayangalil, konblitt paachakam, shaasthreeya samgeetham, saahithyathinte niravadhi vibhagangal, padavyuthpatthi enniva aasvadikkunnu, koodaathe jeevithakalam muzhuvan sinimaye snehikkunnu.
aadyakaala jeevithavum vidyaabhyaasavum.
alberto konblitt 1954 juun 30 nuu arjanteenayile buenos airsilaanu janichathu. addehathinte maathaapithaakkal ganithavum bhoomishaasthravum padippikkukayum cornblickum shaasthrathilum vidyaabhyaasathilum currier pinthudarnna rund sahodarangalkkum cheruppatthil thanne arivinum padanathinumulla anthareeksham nalkukayum cheythu. 16 vayassullappol, konblitt rosa gwaagliyaanon nirddeshicha oru haiskool sasyashaasthra, biology classil chernnu, ithu konblittine laboratory microscopy jolikalum nadatthaan avasaram nalki. eee anubhavam dnailum emrnailum konblittinte thaalparyam aarambhichu. haiskoolinethudarnnu, konblitt buenous airs sarvakalaashaalayile faakkaltti oof sciencias ekttas vaii naachuralsil (school oof sciences) vidyaabhyaasam thudarnnu, 1977 ll biology birudam nedi. 1980 ll, konblitt hector torresinte maarganirdeshaprakaaram buenous airsile campomar foundeshanil ninnu biochemistryil phd nedi. konblitt pinneedu oxfordilekku thamasam maari, avide 1981 muthal 1984 vare sarr vilyam dunn school oof patholajiyil poost doctoral sthaanam vahichu. professor francisco baraleyumaayi chernnu cornblit thante poost doctoral gaveshanathil pravartthikkukayum avar orumichu manushya fibronectin jeeninte cloningle vijayikkukayum cheythu. koshangalude ottikkalinum tissue nannakkalinum vendiyulla oru pradhana glycoproteinaaya fibronectin pakaramaayi splies cheythathaanennum irupathu polypeptideukalude ulppaadanathinu kaaranamakumennum avar nirnnayichu.
gaveshanam.
ooksfoordil thante poost doctoral gaveshanam poortthiyaakkiya sesham, cornblit 1984ll arjanteenayilekku madangukayum buenous airs sarvakalaashaalayile faakkaltti oof sciencias ekstraattas vaii naturalisil molecular aandu sell bayolajiyude asisttant professoraayi oru sthaanam sweekarikkukayum cheythu. 1991ll phul professoraayi niyamithanaaya addeham ippol professor emeritus aanu. konsettinte muthirnna konsett anweshakan koodiyaaya konblitt, badal raibo nucleic assid spliesinginte niyanthranam padikkaan oru gaveshana samghavumaayi pravartthikkunnu. jeane expression samayat badal spliesing sambhavikkunnu, ithu oru jeenil ninnulla exonukale ozhivaakkaano ulppeduthaano anuvadikkunnu, athinte falamaayi orotta jeane onniladhikam proteinukal uthpaadippikkunnu. konblittinte laabile pradhana padhathikal shradha kendreekarikkunnathu 1) badal spliesinginoppam transcription coupling; 2) badal spliesing kromattinum; 3) badal spliesing nattellu muscular atrophy; 4) ultraviolet laitt irrediation badal spliesing; 5) sasyangalil badal spliesing.
badal spliesinginoppam coupling traanskripshanekkurichuri gaveshanam.
konblittinte laab, badal pree-marnah spliesing niyantrikkunnathinaayi badal spliesinginoppam transcription cheiyunna samvidaanangalil shradha kendreekarikkunnu. protein uthppaadanam anuvadikkunnathinaayi oru jeeninte janithaka kramam dnal ninnu arnailake traanskript cheiyukayo maattukayo cheiyunna prakriyayaan transcription. konblihattinte gaveshanathile ettavum pradhanappetta nettangalilonnu 1997-ll vannu. konblihattinte gaveshana samghathinu promoter swaappingumaayi samyojippichu oru badal spliesing asey nadatthaan kazhinju, transcription promotermaar spliesinginte phalathe baadhikkunnuvenn theliyikkaan avar pinneedu transcription, spliesing ennivayude coupling transcription deerghaveekshana vegatha, allengil kainettik coupling, spliesingil rna polymerase II traanskript cheiyunnathinte swaadheenam ennivaye aashrayichirikkunnuvennu nirnnayichu. konblittinte gaveshanam, deerghaveekshanam badal spliesing sambhavangale baadhikkunnuvenn kandethi, pathukke neelam vardhikkunna exonukalude 80 sathamaanavum sasthanikalude koshangalil ekadesham 20 sathamaanavum ozhivaakkunnu.
badal spliesinginekkurichum kromattinekkurichum kooduthal.
konblittinte padanatthinte oru adhika mekhala, badal spliesingil kromaattin gadanayude swaadheenam anweshichu. kromaattin ghadanayum transcription nirakkum badal spliesingine baadhikkunnuvenn konblittinte gaveshana samgham theliyichu. karsanamaaya kromaattin ghadana kuranja neelavum ayanja kromaattin gadanakal transcription dairkhyavum nalkunnuvennu avar kandethi. eee padanangal badal spliesing epigenetics thammilulla bandhathinu kooduthal sambhavana nalki, ithu konblittinte team asthikooda muscular atroficulla saadhyathayulla chikilsakal padikkaan upayogichu.
badal spliesing, sushumna muscular atrophy ennivayekkurichulla gaveshanam.
sushumna motor neuron (smn) protein shaamam moolam kendra naadeevyavasthayude paarambarya degenerative rogamaanu sushumna muscular atrophy (sma). motor neuron 1 (smn 1)-nte athijeevanathinte illaathaakkal allengil parivartthanam moolamaanu ithu sambhavikkunnath. smn1 jeenil thakaraarundaayathinaal sma rogikalkku mathiyaya smn protein illa. ellah manushyarkkum ulla motor neuronukal 2 (smn 2) enna jeenine athijeevichavare sma rogikal aasrayikkanam. krama vyathyaasangalum exon 7 ozhivaakkalum kaaranam motor neuronukalkku peshikale signal cheyyaan mathiyaya poornna dairkhyamulla protein utppaadippikkaan smn 2 nuu kazhiyilla, ithu mothatthilulla smn protein kuravinu kaaranamaakunnu. smaude chikitsa thanthramenna nilayil, spinrasa ennariyappedunna aadyathe fda amgeekritha marunnu doow. adrian crainer addehathinte colled spring harber laborattari sahapravarthakarum. sma rogikalil kooduthal smn protein nirmmikkunnathin smn2 sajeevamakkaan pravartthikkunna oru oligo nucleotidaanu spinrasa. 2015-ll, spinal muscular atrophy rogikalude kudumbangal cornblit, crainer ennivare spinraasayude falaprapti mechappeduthunnathino spinraasayumaayi samyojippichu upayogikkaavunna badal chikilsakal vikasippikkunnathino orumichu pravartthikkaan prothsaahippichu. smn2 jeenil ninnulla smn protein vardhippikkunnathinulla epigenetic thanthrangalil konblittinte gaveshana samgham shradha kendreekarikkunnu, ithu upayogicha spintaasayekkaal vyathyasthamaaya oru samvidaanamaanu. dna shreniyil maattamillathe jeane expressionile maattangale epigenetics padikkunnu. 2017lum 2019lum cornblick cure smayil ninnum prashasthiyil ninnum (sma, arjanteenayile kudumbangal) moonnu vyathyastha graantukal labhichu, "smn2" iii7 alternative spliesingile epigenetics "," smn2 iii7 alternative spliesing II leeii epigenetics "ennee padhathikalil thudarchayaaya pravartthanangale pinthunaykkunnathinaayi. eee padhathikalil, onniladhikam proteinukal uthpaadippikkunnathinu orotta jeane upayogichu smn protein vikasanathinaayi puthiya samvidaanangal vikasippikkunnathin badal pree-marnah spliesing niyanthrikkunnathin konblittinte team pravarthichittundu. spinrasa polulla oligo nucleotide chikilsakalumaayi samyojippichu pravarthikkunnathinu exon 7 ulppeduthalil prathyeka shradha kendreekarikkunna sma therappikkaayulla smn 2 jeenil konblittinte laab pravartthikkunnathu thudarunnu.
mattu gaveshanangal.
yuvi-induced dna kedupaadukal.
badal spliesinginekkurichu avarude deerghakaala gaveshanathinte thudarchayaayi, konblittinte team manushya charmmakoshangalile badal spliesingil ultraviolet laitt (yuvi) vikiranathaal undaakunna dna kedupaadukal padichu. sooryaprakaashathodulla dna-kedupadukalkkulla prathikaranam rna polymerasinte phosphorylation kaaranamaakukayum ensaiminte vegatha kuraykkukayum cheiyunnuvennu avarude gaveshanam theliyichu. niravadhi jeenukalude badal spliesing uthejippikkunnathinum kedupaadukal sambhavichatho parivartthanam cheythatho aaya koshangalude maranam prolsaahippikkunnathum yuvi vikiranangal aavasyamaanennu avarude gaveshanathiloode avar kandethi.
sasyangalil badal spliesing.
manushyakoshangalil nadatthiya gaveshanathinu purame, konblittinte samgham sasyangalile transcription badal spliesing padikkunnathinaayi avarude gaveshanam vipuleekarichu. baahya prakasha saahacharyangal badal spliesingine engane baadhichuvennu anweshikkaan arabidopsis taliana plaant upayogichu. prakaashasamsleshanam nadakkunna chloroplast prakasham manassilakkukayum badal spliesing niyantrikkunnathinaayi sell nucleusilekku oru signal ayaykkukayum cheiyunnuvennu gaveshanangal theliyichu. sasthanikalude koshangalil munbu kandethiyathupole, sasyangalile badal spliesing gathikorja samvidaanathodu prathikarikkunnuvennu konblittinte samgham theliyichu. iruttil neelam kurayumbol aarr. enn. eiii polymerase II (pooll II) ll prakasham neelam koottunnuvennu avarude gaveshanam kaanikkunnu.

