31 research outputs found

    The genetic architecture of the human cerebral cortex

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    The cerebral cortex underlies our complex cognitive capabilities, yet little is known about the specific genetic loci that influence human cortical structure. To identify genetic variants that affect cortical structure, we conducted a genome-wide association meta-analysis of brain magnetic resonance imaging data from 51,665 individuals. We analyzed the surface area and average thickness of the whole cortex and 34 regions with known functional specializations. We identified 199 significant loci and found significant enrichment for loci influencing total surface area within regulatory elements that are active during prenatal cortical development, supporting the radial unit hypothesis. Loci that affect regional surface area cluster near genes in Wnt signaling pathways, which influence progenitor expansion and areal identity. Variation in cortical structure is genetically correlated with cognitive function, Parkinson's disease, insomnia, depression, neuroticism, and attention deficit hyperactivity disorder

    Case Report - "Salvage" Transhiatal Oesophagectomy After Unsuccessful Curative Chemoradiotherapy for Squamous Cell Cancer of the Oesophagus

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    A patient who underwent a palliative transhiatal oesophagectomy after failed chemoradiation is presented and the issues related to this management option in oesophageal cancer are discussed

    Alzheimer Disease: A New Beginning or a Final Exit?

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    Today, a new chapter is being written in the book of Alzheimer disease, one that is challenging the longstanding view that adult neurons are incapable of division, remain nonproliferative, and are terminally differentiated. Here, we review the provocative notion that, in Alzheimer disease, whole populations of nonstem cell neurons leave their quiescent state and re-enter into the cell cycle. However, such neuronal re-entry into the cell cycle is futile and ultimately leads to the neurodegeneration that typifies Alzheimer disease.Fil: Obrenovich, Mark E.. No especifíca;Fil: Raina, Arun K.. No especifíca;Fil: Ogawa, Osamu. No especifíca;Fil: Atwood, Craig S.. No especifíca;Fil: Morelli, Laura. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Instituto de Investigaciones Bioquímicas de Buenos Aires. Fundación Instituto Leloir. Instituto de Investigaciones Bioquímicas de Buenos Aires; ArgentinaFil: Smith, Mark A.. No especifíca

    Intraspecific variation in the internal transcribed spacer (ITS) regions of rDNA in <i style="">Withania somnifera</i> (Linn.) Dunal

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    325-328Intraspecific variation in ITS regions of the rDNA among the five wild and five cultivated genotypes of Withania somnifera, were evaluated at nucleotide sequence level using restriction fragment length polymorphism (RFLP). The entire internal transcribed spacer (ITS1-5.8S-ITS2) region was first amplified by PCR and then cleaved with four different restriction enzymes (EcoRV, Hinf I, Afa I &amp; Hae III). Restriction endonuclease digests, types, and sequence length composition of ITS 1 and ITS 2 of nuclear ribosomal DNA provided discrete differences between the cultivated and wild genotypes. A 710 bp single amplified product was obtained in all the five wild genotypes whereas, two ITS bands named as ITS type A and B of 709 bp and 552 bp, respectively were obtained in the five cultivated genotypes. A single deletion at 672 position was noted in ITS type A of cultivated genotypes. There was no restriction site in 552 bp ITS band for all the four restriction enzymes used. The variation of ITS at amplification as well as digestion level is in conformity with morphological and phytochemical differences in W. somnifera genotypes

    Utility of multidisciplinary approach for genome diagnostics of cultivated and wild germplasm resources of medicinal Withania somnifera, and status of new species, W. ashwagandha, to the cultivated taxon

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    Realizing the inconsistencies that exist in the extent and nature of differentiation in the Withania somnifera genetic resources in India, the 21 cultivated and wild accessions, and the two hybrids (cultivated 9 wild accessions and vice versa) were investigated for morphological,cytogenetical, chemical profiling, and crossability features.Their nuclear and chloroplast genomes were also assayed at the nucleotide sequence level, and by use of DNA markers. Chloroplast DNA diversity and somatic chromosome number (2n = 48) were not helpful in identifying the differences. Other approaches, on the other hand, especially restriction endonuclease digests, types and sequence length composition of ITS 1 and ITS 2 of nuclear ribosomal DNA, AFLP fingerprinting, and crossability barriers unambiguously provided startling discrete differences between the cultivated and wild accessions, indicating a clear division of W. somnifera into two distinct lineages.These data, therefore, are indicative of the fact that because of the unique characteristics of its nuclear genome, and strong crossability barriers vis-a`-vis wild accessions of W. somnifera, the cultivated accessions should be relegated to the rank of the separate species, W. ashwagandha
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