نتایج جستجو برای: aspm
تعداد نتایج: 234 فیلتر نتایج به سال:
BACKGROUND Primary microcephaly (MCPH) is a genetically heterogeneous disorder showing an autosomal recessive mode of inheritance. Affected individuals present with head circumferences more than three SDs below the age- and sex-matched population mean, associated with mild to severe mental retardation. Five genes (MCPH1, CDK5RAP2, ASPM, CENPJ, STIL) and two genomic loci, MCPH2 and MCPH4, have b...
The size of human brain tripled over a period of approximately 2 million years (MY) that ended 0.2-0.4 MY ago. This evolutionary expansion is believed to be important to the emergence of human language and other high-order cognitive functions, yet its genetic basis remains unknown. An evolutionary analysis of genes controlling brain development may shed light on it. ASPM (abnormal spindle-like ...
BACKGROUND Children with ependymoma may experience a relapse in up to 50% of cases depending on the extent of resection. Key biological events associated with recurrence are unknown. METHODOLOGY/PRINCIPAL FINDINGS To discover the biology behind the recurrence of ependymomas, we performed CGHarray and a dual-color gene expression microarray analysis of 17 tumors at diagnosis co-hybridized with...
The anatomical basis and adaptive function of the expansion in primate brain size have long been studied; however we are only beginning to understand the genetic basis of these evolutionary changes. Genes linked to human primary microcephaly have received much attention as they have accelerated evolutionary rates along lineages leading to humans. However these studies focus narrowly on apes and...
Microcephaly (MCPH) genes are informative in understanding the genetics and evolution of human brain volume. MCPH1 and abnormal spindle-like MCPH associated (ASPM) are the two known MCPH causing genes that were suggested undergone recent positive selection in human populations. However, previous studies focusing only on the two tag single nucleotide polymorphisms(SNPs) of MCPH1 and ASPM failed ...
Voice over IP (VoIP) is a key technology, which provides new ways of communication. It enables the transmission of telephone calls over the Internet, which delivers economical telephony that can clearly benefit both consumers and businesses, but it also provides a cheap method of mass advertising. Those bulks unsolicited calls are known as SPam over Internet Telephony (SPIT). In this paper we i...
H autosomal recessive primary microcephaly (MCPH) is failure of normal fetal brain development, resulting in microcephaly (MIC) and mental retardation. It is caused by an abnormal spindlelike microcephaly (ASPM) gene mutation. It is a heterogeneous disorder, with at least 7 genetic loci. A mutation of the ASPM gene at the MPCH5 locus is the most common cause of MCPH. The ASPM associated protein...
Language is a hallmark of our species and understanding linguistic diversity is an area of major interest. Genetic factors influencing the cultural transmission of language provide a powerful and elegant explanation for aspects of the present day linguistic diversity and a window into the emergence and evolution of language. In particular, it has recently been proposed that linguistic tone-the ...
Mekel-Bobrov et al. and Evans et al. (Reports, 9 Sept. 2005, p. 1720 and p. 1717, respectively) examined sequence data from modern humans within two gene regions associated with brain development, ASPM and microcephalin, and concluded that selection of these genes must be ongoing. We show that models of human history that include both population growth and spatial structure can generate the obs...
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