تفاصيل الوثيقة
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نوع الوثيقة |
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مقال في مجلة دورية |
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عنوان الوثيقة |
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Molecular genetics of human primary microcephaly: an overview Molecular genetics of human primary microcephaly: an overview |
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لغة الوثيقة |
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الانجليزية |
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المستخلص |
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Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental disorder that is characterised by microcephaly present at birth and non-progressive mental retardation. Microcephaly is the outcome of a smaller but architecturally normal brain; the cerebral cortex exhibits a significant decrease in size. MCPH is a neurogenic mitotic disorder, though affected patients demonstrate normal neuronal migration, neuronal apoptosis and neural function. Twelve MCPH loci (MCPH1-MCPH12) have been mapped to date from various populations around the world and contain the following genes: Microcephalin, WDR62, CDK5RAP2, CASC5, ASPM, CENPJ, STIL, CEP135, CEP152, ZNF335, PHC1 and CDK6. It is predicted that MCPH gene mutations may lead to the disease phenotype due to a disturbed mitotic spindle orientation, premature chromosomal condensation, signalling response as a result of damaged DNA, microtubule dynamics, transcriptional control or a few other hidden centrosomal mechanisms that can regulate the number of neurons produced by neuronal precursor cells. Additional findings have further elucidated the microcephaly aetiology and pathophysiology, which has informed the clinical management of families suffering from MCPH. The provision of molecular diagnosis and genetic counselling may help to decrease the frequency of this disorder. |
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ردمد |
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1755-8794 |
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اسم الدورية |
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BMC Med Genomics |
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المجلد |
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8 |
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العدد |
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1 |
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سنة النشر |
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1436 هـ
2015 م |
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نوع المقالة |
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مقالة علمية |
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تاريخ الاضافة على الموقع |
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Tuesday, April 19, 2016 |
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الباحثون
| Muhammad Faheem | Faheem, Muhammad | باحث رئيسي | | |
| Muhammad Imran Naseer | Naseer, Muhammad Imran | باحث مشارك | | |
| Mahmood Rasool | Rasool, Mahmood | باحث مشارك | | |
| Adeel G. Chaudhary | Chaudhary, Adeel G. | باحث مشارك | | |
| Taha A. Kumosani | Kumosani, Taha A. | باحث مشارك | | |
| Asad Muhammad Ilyas | Ilyas, Asad Muhammad | باحث مشارك | | |
| Peter Natesan Pushparaj | Pushparaj, Peter Natesan | باحث مشارك | | |
| Farid Ahmed | Ahmed, Farid | باحث مشارك | | |
| Hussain A. Algahtani | Algahtani, Hussain A. | باحث مشارك | | |
| Mohammad H. Al-Qahtani | Al-Qahtani, Mohammad H. | باحث مشارك | | |
| Hasan Saleh Jamal | Jamal, Hasan Saleh | باحث مشارك | | |
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الرجوع إلى صفحة الأبحاث
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