Congenital hydrocephalus,theaccumul

Congenital hydrocephalus,theaccumulationofexcesscerebrospinal fluid (CSF)intheventriclesofthe
brain, affectsoneofevery1000childrenborntoday,makingitoneofthemostcommonhuman
developmental disorders.Geneticcausesofhydrocephalusarepoorlyunderstoodinhumans,butanimal
models suggestabroadgeneticprogramunderlyingtheregulationofCSFbalance.Inthisstudy,the
random integrationofatransgeneintothemousegenomeledtothedevelopmentofanearlyonsetand
rapidlyprogressivehydrocephalus. Juvenilehydrocephalus transgenicmice(JhylacZ) inheritcommunicat-
ing hydrocephalusinanautosomalrecessivefashionwithdilationofthelateralventriclesobservedas
earlyaspostnatalday1.5.Ventriculardilationincreasesinseverityovertime,becomingfatalat4–8
weeks ofage.Theependymalcilialiningthelateralventriclesaremorphologicallyabnormalandreduced
in numberin JhylacZ/lacZ brains,andultrastructuralanalysisrevealeddisorganizationoftheexpected9+2
microtubulepattern.Rather,themajorityof JhylacZ/lacZ ciliadevelopaxonemeswith9+0 or8+2 microtubule
structures.Disruptionofanunstudiedgene, 4931429I11Rik (nownamed Jhy) appearstounderliethe
hydrocephalusof JhylacZ/lacZ mice,andthe Jhy transcriptandproteinaredecreasedin JhylacZ/lacZ mice.
Partialphenotypicrescuewasachievedin JhylacZ/lacZ micebytheintroductionofabacterialartificial
chromosome(BAC)carrying60–70%oftheJHYproteincodingsequence. Jhy is evolutionarilyconserved
fromhumanstobasalvertebrates,butthepredictedJHYproteinlacksidentifiablefunctionaldomains.
OngoingstudiesaredirectedatuncoveringthephysiologicalfunctionofJHYanditsroleinCSF
homeostasis.

ผลลัพธ์ (ไทย) 2:

แต่กำเนิด hydrocephalus, ของเหลว theaccumulationofexcesscerebrospinal (CSF) intheventriclesofthe
สมอง affectsoneofevery1000childrenborntoday, makingitoneofthemostcommonhuman
disorders.Geneticcausesofhydrocephalusarepoorlyunderstoodinhumans พัฒนาการ butanimal
suggestabroadgeneticprogramunderlyingtheregulationofCSFbalance.Inthisstudy
รุ่นที่สุ่ม
Juvenilehydrocephalus transgenicmice (JhylacZ) inheritcommunicat-
ไอเอ็นจี ofage.Theependymalcilialiningthelateralventriclesaremorphologicallyabnormalandreduced ใน numberin JhylacZ / lacZ JhylacZ / lacZ ciliadevelopaxonemeswith9 + 0 + 2 or8 microtubule structures.Disruptionofanunstudiedgene, 4931429I11Rik (nownamed Jhy) appearstounderliethe hydrocephalusof JhylacZ / lacZ หนู andthe Jhy transcriptandproteinaredecreasedin JhylacZ / lacZ หนู. Partialphenotypicrescuewasachievedin JhylacZ / lacZ Jhy คือ

ผลลัพธ์ (ไทย) 3:

ภาวะน้ำคั่งในสมอง theaccumulationofexcesscerebrospinal แต่กำเนิด , ของเหลว ( น้ำ ) intheventriclesofthe

พัฒนาการสมอง affectsoneofevery1000childrenborntoday makingitoneofthemostcommonhuman , ความผิดปกติ geneticcausesofhydrocephalusarepoorlyunderstoodinhumans butanimal
, รุ่น suggestabroadgeneticprogramunderlyingtheregulationofcsfbalance inthisstudy ,
.rapidlyprogressivehydrocephalus integrationofatransgeneintothemousegenomeledtothedevelopmentofanearlyonsetand
สุ่ม juvenilehydrocephalus transgenicmice ( jhylacz ) inheritcommunicat -

earlyaspostnatalday1.5 ไอเอ็นจี hydrocephalusinanautosomalrecessivefashionwithdilationofthelateralventriclesobservedas . ventriculardilationincreasesinseverityovertime becomingfatalat4 – 8
, สัปดาห์ ofage .theependymalcilialiningthelateralventriclesaremorphologicallyabnormalandreduced
ใน numberin jhylacz / lacz มันสมอง andultrastructuralanalysisrevealeddisorganizationoftheexpected9 2
microtubulepattern ค่อนข้าง themajorityof jhylacz / lacz ciliadevelopaxonemeswith9 0 or8 2 ไมโครทูบูล
structures.disruptionofanunstudiedgene 4931429i11rik ( nownamed , jhy ) appearstounderliethe
hydrocephalusof jhylacz / lacz หนู และ jhy transcriptandproteinaredecreasedin jhylacz / lacz หนู . . .
partialphenotypicrescuewasachievedin jhylacz / lacz micebytheintroductionofabacterialartificial
โครโมโซม ( BAC ) carrying60 – 70% ofthejhyproteincodingsequence . jhy เป็น fromhumanstobasalvertebrates evolutionarilyconserved
,
butthepredictedjhyproteinlacksidentifiablefunctionaldomains .ongoingstudiesaredirectedatuncoveringthephysiologicalfunctionofjhyanditsroleincsf
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