کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
4353708 | 1298492 | 2010 | 21 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Many roads lead to primary autosomal recessive microcephaly
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کلمات کلیدی
GLI1LAPMicrocephalinCPAPMCPHPLK1ReelinTbr1RELNNBS1TNFalphaMcph1PCNTmDC1BubR1BRCT53BP1Pitx2BACH1CDK5RAP2glioma-associated oncogene homologataxia telangiectasia and Rad3-related proteinPCMCMDATRPCCPericentrinshRNASTILγTuRCcentrosominEB1cell division cycle 25AASPMSufuAPCcdk5OFCataxia telangiectasia mutated - Ataxia telangiectasia جهش یافته استshort hairpin RNA - RNA موی سر کوتاهSpindle - اسپیندلstandard deviation - انحراف معیارPremature chromosome condensation - تراکم کروموزوم زودرسtumor necrosis factor-alpha - تومور نکروز عامل آلفاATM - خودپردازShh - خیرcalponin homology domain - دامنه هماهنگی کالپونMOT - در برابرCNS - دستگاه عصبی مرکزیCentrosome - سانتریفیوژsuppressor of fused - سرکوب کننده همجوشیCNN - سی ان انcentral nervous system - سیستم عصبی مرکزیcyclin-dependent kinase 5 - سیکلین وابسته به کیناز 5sonic hedgehog - صدای جیر جیرPaired-like homeodomain transcription factor 2 - فاکتور رونویسی هومیوودینام 2 مانندMad2 - مد 2microtubule-organizing center - مرکز میکروتوبولی سازماندهیmicrocephaly - میکروسفالیNeuroepithelium - نوروپاتیلیومmediator of DNA damage checkpoint protein 1 - واسطه ژن پروتئین پروتئین 1Polo-like kinase 1 - پلی کیناز 1anaphase-promoting complex - پیچیده ترویج آنافازCell cycle - چرخه سلولیCASK - کاسکCalmodulin - کالمودولینMental retardation - کمتوانی ذهنی
موضوعات مرتبط
علوم زیستی و بیوفناوری
علم عصب شناسی
علوم اعصاب (عمومی)
پیش نمایش صفحه اول مقاله
چکیده انگلیسی
Autosomal recessive primary microcephaly (MCPH), historically referred to as Microcephalia vera, is a genetically and clinically heterogeneous disease. Patients with MCPH typically exhibit congenital microcephaly as well as mental retardation, but usually no further neurological findings or malformations. Their microcephaly with grossly preserved macroscopic organization of the brain is a consequence of a reduced brain volume, which is evident particularly within the cerebral cortex and thus results to a large part from a reduction of grey matter. Some patients with MCPH further provide evidence of neuronal heterotopias, polymicrogyria or cortical dysplasia suggesting an associated neuronal migration defect. Genetic causes of MCPH subtypes 1-7 include mutations in genes encoding microcephalin, cyclin-dependent kinase 5 regulatory associated protein 2 (CDK5RAP2), abnormal spindle-like, microcephaly associated protein (ASPM), centromeric protein J (CENPJ), and SCL/TAL1-interrupting locus (STIL) as well as linkage to the two loci 19q13.1-13.2 and 15q15-q21. Here, we provide a timely overview of current knowledge on mechanisms leading to microcephaly in humans with MCPH and abnormalities in cell division/cell survival in corresponding animal models. Understanding the pathomechanisms leading to MCPH is of high importance not only for our understanding of physiologic brain development (particularly of cortex formation), but also for that of trends in mammalian evolution with a massive increase in size of the cerebral cortex in primates, of microcephalies of other etiologies including environmentally induced microcephalies, and of cancer formation.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Progress in Neurobiology - Volume 90, Issue 3, March 2010, Pages 363-383
Journal: Progress in Neurobiology - Volume 90, Issue 3, March 2010, Pages 363-383
نویسندگان
Angela M. Kaindl, Sandrine Passemard, Pavan Kumar, Nadine Kraemer, Lina Issa, Angelika Zwirner, Benedicte Gerard, Alain Verloes, Shyamala Mani, Pierre Gressens,