نتایج جستجو برای: aspm

تعداد نتایج: 234  

Journal: :Science 2005
Nitzan Mekel-Bobrov Sandra L Gilbert Patrick D Evans Eric J Vallender Jeffrey R Anderson Richard R Hudson Sarah A Tishkoff Bruce T Lahn

The gene ASPM (abnormal spindle-like microcephaly associated) is a specific regulator of brain size, and its evolution in the lineage leading to Homo sapiens was driven by strong positive selection. Here, we show that one genetic variant of ASPM in humans arose merely about 5800 years ago and has since swept to high frequency under strong positive selection. These findings, especially the remar...

Journal: :iranian journal of child neurology 0
elinaz akbariazar msc of human genetic, university of social welfare& rehabilitation sciences, tehran, iran mohammad reza ebrahimpour msc of human genetics, university of social welfare & rehabilitation sciences, tehran, iran saeedeh akbari msc of human genetics, university of social welfare & rehabilitation sciences, tehran, iran sanaz arzhanghi bsc in nursing, genetics research center, university of social welfare & rehabilitation sciences, tehran, iran seydeh sedigheh abedini msc of human genetics, university of social welfare & rehabilitation sciences, tehran, iran hossein najmabadi professor of molecular biology, university of social welfare & rehabilitation sciences, tehran, iran

how to cite this article: akbarizar e, ebrahimpour m, akbari s, arzhanghi s, abedini ss, najmabadi h, kahrizi k. a novel deletion mutation in aspm gene in an iranian family with autosomal recessive primary microcephaly. iran j child neurol.  2013 spring;7(2):23-30.   objective autosomal recessive primary microcephaly (mcph) is a neurodevelopmental and genetically heterogeneous disorder with dec...

Journal: :American journal of human genetics 2003
Jacquelyn Bond Sheila Scott Daniel J Hampshire Kelly Springell Peter Corry Marc J Abramowicz Ganesh H Mochida Raoul C M Hennekam Eamonn R Maher Jean-Pierre Fryns Abdulrahman Alswaid Hussain Jafri Yasmin Rashid Ammar Mubaidin Christopher A Walsh Emma Roberts C Geoffrey Woods

Mutations in the ASPM gene at the MCPH5 locus are expected to be the most common cause of human autosomal recessive primary microcephaly (MCPH), a condition in which there is a failure of normal fetal brain development, resulting in congenital microcephaly and mental retardation. We have performed the first comprehensive mutation screen of the 10.4-kb ASPM gene, identifying all 19 mutations in ...

Journal: :Future Internet 2018
Jingbo Zhang Zhenyang Sun Shufang Zhang

In the field of cognitive radio spectrum sensing, the adaptive silence period management mechanism (ASPM) has improved the problem of the low time-resource utilization rate of the traditional silence period management mechanism (TSPM). However, in the case of the low signal-to-noise ratio (SNR), the ASPM algorithm will increase the probability of missed detection for the primary user (PU). Focu...

2005
J Shen W Eyaid G H Mochida F Al-Moayyad A Bodell C G Woods C A Walsh

Background: Human autosomal recessive primary microcephaly (MCPH) is a heterogeneous disorder with at least six genetic loci (MCPH1–6), with MCPH5, caused by ASPM mutation, being the most common. Despite the high prevalence of epilepsy in microcephaly patients, microcephaly with frequent seizures has been excluded from the ascertainment of MCPH. Here, we report a pedigree with multiple affected...

Journal: :Journal of medical genetics 2005
J Shen W Eyaid G H Mochida F Al-Moayyad A Bodell C G Woods C A Walsh

BACKGROUND Human autosomal recessive primary microcephaly (MCPH) is a heterogeneous disorder with at least six genetic loci (MCPH1-6), with MCPH5, caused by ASPM mutation, being the most common. Despite the high prevalence of epilepsy in microcephaly patients, microcephaly with frequent seizures has been excluded from the ascertainment of MCPH. Here, we report a pedigree with multiple affected ...

Journal: :IJCAT 2008
Nao Li Mingshu Li Qing Wang Shuanzhu Du

Our Agent-based Software Process Modelling (ASPM) approach describes a software process as a set of cooperative agents. Negotiation is the way in which the agents construct their cooperative relations, and thus the software process. Currently, most negotiation models use a fixed negotiation protocol and fixed strategies. In order to achieve the flexibility that the negotiation of the agents in ...

Journal: :IEEE Transactions on Industrial Electronics 2023

Linear modulation techniques (LMTs) of an asymmetrical six-phase machine (ASPM) with two isolated neutral points synthesize the desired voltage vectors by applying at least five switching states. Different choices applied vectors, sequences in which they are used, distribution dwell-times among redundant states give rise to a large number possible LMTs. It is desirable that these LMTs avoid mor...

Journal: :Science 2007
Nicholas Timpson Jon Heron George Davey Smith Wolfgang Enard

Evans et al. and Mekel-Bobrov et al. (Reports, 9 September 2005, p. 1717 and 1720, respectively) reported that human genetic variants of Microcephalin (MCPH1) and abnormal spindle-like microcephaly associated (ASPM) are under strong positive selection. We genotyped these variants in 9000 children and find no meaningful associations with brain size and various cognitive measures, which indicates...

Journal: :Molecular biology and evolution 2008
Farhan Ali Rudolf Meier

The rapid increase of brain size is a key event in human evolution. Abnormal spindle-like microcephaly associated (ASPM) is discussed as a major candidate gene for explaining the exceptionally large brain in humans but ASPM's role remains controversial. Here we use codon-specific models and a comparative approach to test this candidate gene that was initially identified in Homo-chimp comparison...

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