Every Cell Has a Sex - Women`s Health Research Institute
... 28 EXPLORING THE BIOLOGICAL CONTRIBUTIONS TO HUMAN HEALTH: DOES SEX MATTER? gate with the Y chromosome (“hairy ears,” for example [Dronamraju 1964]) tended to reinforce the notion that the Y chromosome encoded the male gonadal phenotype (Koopman et al., 1991), one or more genes involved in male fer ...
... 28 EXPLORING THE BIOLOGICAL CONTRIBUTIONS TO HUMAN HEALTH: DOES SEX MATTER? gate with the Y chromosome (“hairy ears,” for example [Dronamraju 1964]) tended to reinforce the notion that the Y chromosome encoded the male gonadal phenotype (Koopman et al., 1991), one or more genes involved in male fer ...
ppt - University of Connecticut
... The chlamydial symbiont is lost - possibly without trace, except for the genes that facilitated the integration of the metabolism of the host with that of a photoautotroph. This hypothesis also explains why the evolution of an organelle from a primary endosymbiont is rare. A photoautotroph with a si ...
... The chlamydial symbiont is lost - possibly without trace, except for the genes that facilitated the integration of the metabolism of the host with that of a photoautotroph. This hypothesis also explains why the evolution of an organelle from a primary endosymbiont is rare. A photoautotroph with a si ...
Molecular Cytogenetics
... breakpoints or any pathologic copy number variation elsewhere in the genome (data not shown). We performed additional FISH studies using BAC clones from chromosomes 7 and 10 to narrow the location of the breakpoints. Concurrently, we generated somatic cell hybrids of the proband's lymphocytes and ha ...
... breakpoints or any pathologic copy number variation elsewhere in the genome (data not shown). We performed additional FISH studies using BAC clones from chromosomes 7 and 10 to narrow the location of the breakpoints. Concurrently, we generated somatic cell hybrids of the proband's lymphocytes and ha ...
Gene Section myeloid leukemia 1; aml1 oncogene)) Atlas of Genetics and Cytogenetics
... alternate splicing --> transcripts of 2, 3.3, -> 7.5 and 8 kb. ...
... alternate splicing --> transcripts of 2, 3.3, -> 7.5 and 8 kb. ...
Bases genéticas de mutações de canal de sódio cardíaco ligadas a
... within the context of what is presently known ...
... within the context of what is presently known ...
PDF - Molecular Vision
... three different chromosomal loci, with several genes in these loci being implicated. The role of both VSX1 and COL8A2 in PPCD remains controversial but recent work suggests that mutations in the transcription factor gene ZEB1/TCF8 account for disease in up to 30% of subjects, with a significant asso ...
... three different chromosomal loci, with several genes in these loci being implicated. The role of both VSX1 and COL8A2 in PPCD remains controversial but recent work suggests that mutations in the transcription factor gene ZEB1/TCF8 account for disease in up to 30% of subjects, with a significant asso ...
TEL1, a Gene Involved in Controlling Telomere Length in S
... may be defective in some aspect of telomere metabolism. Pandita et al. (1995) showed that two AT cell lines had telomeres that were slightly smaller than those in wild-type cells, but had somewhat elevated levels of telomerase activity. The ATM (for AT mutated) gene from humans has been cloned and s ...
... may be defective in some aspect of telomere metabolism. Pandita et al. (1995) showed that two AT cell lines had telomeres that were slightly smaller than those in wild-type cells, but had somewhat elevated levels of telomerase activity. The ATM (for AT mutated) gene from humans has been cloned and s ...
Supplemental Figure and Methods
... 222 candidate genes had adjacent or overlapping gene regions and were thus combined for the gene analysis: C3-TRIP10, CHUK-PKD2L1, KCNJ11-ABCC8, LTATNF, NR1H3-SPI1, and NR5A1-NR6A1. We estimated the study-wide significance of an observed number of significant SNPs by comparing to the appropriate bin ...
... 222 candidate genes had adjacent or overlapping gene regions and were thus combined for the gene analysis: C3-TRIP10, CHUK-PKD2L1, KCNJ11-ABCC8, LTATNF, NR1H3-SPI1, and NR5A1-NR6A1. We estimated the study-wide significance of an observed number of significant SNPs by comparing to the appropriate bin ...
Disease Genomics Part 2 - Medical Sciences Division
... • Excellent functional genomics resources – The comparison between a human phenotype and a mouse phenotype is often very readily interpretable. – Other useful organisms include the fly, the worm and even yeast • Useful as they have well-curated data for many genes ...
... • Excellent functional genomics resources – The comparison between a human phenotype and a mouse phenotype is often very readily interpretable. – Other useful organisms include the fly, the worm and even yeast • Useful as they have well-curated data for many genes ...
Genome Research 17
... genes than in autosomal genes. This “fast-X effect” should be evident by an increased ratio of nonsynonymous to synonymous substitutions (dN/dS) for sex-linked genes; however, recent studies have produced mixed support for this expectation. To make an independent test of the idea of fast-X evolution ...
... genes than in autosomal genes. This “fast-X effect” should be evident by an increased ratio of nonsynonymous to synonymous substitutions (dN/dS) for sex-linked genes; however, recent studies have produced mixed support for this expectation. To make an independent test of the idea of fast-X evolution ...
How To Use GOstats Testing Gene Lists for GO Term Association 1 Introduction
... the ALL1/AF4 group than in the NEG group, whereas for a different gene it might be the NEG group that shows the increased expression. By only looking at the p-values for the test statistics, the directionality is lost. The danger is that an association with a GO category may be found where the genes ...
... the ALL1/AF4 group than in the NEG group, whereas for a different gene it might be the NEG group that shows the increased expression. By only looking at the p-values for the test statistics, the directionality is lost. The danger is that an association with a GO category may be found where the genes ...
TheraGuide 5-FU Slide Set
... • Use of pharmacogenetics in understanding patient susceptibility to 5-FU toxicity ...
... • Use of pharmacogenetics in understanding patient susceptibility to 5-FU toxicity ...
Non-coding RNA
... Short (few hundred bp to 1000bp) Lacks 5’ cap and 3’ polyA Transient and levels correlate with enhancer activities Functions unknown Kim et al., Nature 465,182–187(2010). ...
... Short (few hundred bp to 1000bp) Lacks 5’ cap and 3’ polyA Transient and levels correlate with enhancer activities Functions unknown Kim et al., Nature 465,182–187(2010). ...
Cancer Prone Disease Section Multiple osteochondromas (MO) Atlas of Genetics and Cytogenetics
... homologue Wnt). It was therefore hypothesized that EXT mutations affect IHh / PTHLH, TGF-beta/BMP and Wnt signaling pathways within the normal growth plate. Indeed, altered levels of the EXT1 and EXT2 protein and of their putative downstream effectors (IHh/PTHrP, TGF-beta/BMP and Wnt signalling path ...
... homologue Wnt). It was therefore hypothesized that EXT mutations affect IHh / PTHLH, TGF-beta/BMP and Wnt signaling pathways within the normal growth plate. Indeed, altered levels of the EXT1 and EXT2 protein and of their putative downstream effectors (IHh/PTHrP, TGF-beta/BMP and Wnt signalling path ...
AllBio_DJK
... Enriched signals at the QTL position • 16 differentially expressed probes in 1Mb region around QTL • QTL acting at chromatin or methylation level? • PH simply one of the downstream effects. ...
... Enriched signals at the QTL position • 16 differentially expressed probes in 1Mb region around QTL • QTL acting at chromatin or methylation level? • PH simply one of the downstream effects. ...
Draft data leave geneticists with a mountain still to climb
... although the company says its sequence covers 99% of the genome. On the basis of the data presented publicly, it is impossible to verify whether Celera’s assembly is correctly orientated and ordered throughout the genome. But Celera has also produced a second map by incorporating data from the publi ...
... although the company says its sequence covers 99% of the genome. On the basis of the data presented publicly, it is impossible to verify whether Celera’s assembly is correctly orientated and ordered throughout the genome. But Celera has also produced a second map by incorporating data from the publi ...
Scenario C – HIV Genotyping of Drug Resistant Strains
... mutations lead to drug resistance. All other variables are controlled as much as possible. Variables that were controlled included the infection stage of the patient, the age of the patient, and whether they were a male or female. Also, their symptoms were all matched as much a possible. You have en ...
... mutations lead to drug resistance. All other variables are controlled as much as possible. Variables that were controlled included the infection stage of the patient, the age of the patient, and whether they were a male or female. Also, their symptoms were all matched as much a possible. You have en ...
PowerPoint Presentation - Aminosugar metabolism
... FolP-like gene family (FolP2, MJ0107) found mostly in Archaea, may be involved in methanopterin biosynthesis (M. Rasche, personal communication). On the other hand, the ThyA-like TS enzyme of M. jannaschii was shown to utilize folate rather than methanopterin derivatives as a cofactor (Nature Struct ...
... FolP-like gene family (FolP2, MJ0107) found mostly in Archaea, may be involved in methanopterin biosynthesis (M. Rasche, personal communication). On the other hand, the ThyA-like TS enzyme of M. jannaschii was shown to utilize folate rather than methanopterin derivatives as a cofactor (Nature Struct ...
human lymphoblastoid cells. and unbalanced translocation in p53
... force for the acquisition of these multiple genetic alterations (34, 47). If genomic instability increases the rate at which these alterations occur, then the accumulation of changes and subsequent selection for growth advantage may lead to tumorigenesis. Although the molecular mechanisms leading to ...
... force for the acquisition of these multiple genetic alterations (34, 47). If genomic instability increases the rate at which these alterations occur, then the accumulation of changes and subsequent selection for growth advantage may lead to tumorigenesis. Although the molecular mechanisms leading to ...
Information homeostasis as a fundamental principle governing the
... Cancer as a mechanism of increasing the channel capacity Several lines of investigation suggest an increase in the source capacity in cancer cells [11,12]. Onset of cancer in a tissue is associated with genetic mutations either in a single cell or multiple cells [13] followed by activation of new ge ...
... Cancer as a mechanism of increasing the channel capacity Several lines of investigation suggest an increase in the source capacity in cancer cells [11,12]. Onset of cancer in a tissue is associated with genetic mutations either in a single cell or multiple cells [13] followed by activation of new ge ...
Oncogenomics
Oncogenomics is a relatively new sub-field of genomics that applies high throughput technologies to characterize genes associated with cancer. Oncogenomics is synonymous with ""cancer genomics"". Cancer is a genetic disease caused by accumulation of mutations to DNA leading to unrestrained cell proliferation and neoplasm formation. The goal of oncogenomics is to identify new oncogenes or tumor suppressor genes that may provide new insights into cancer diagnosis, predicting clinical outcome of cancers, and new targets for cancer therapies. The success of targeted cancer therapies such as Gleevec, Herceptin, and Avastin raised the hope for oncogenomics to elucidate new targets for cancer treatment.Besides understanding the underlying genetic mechanisms that initiates or drives cancer progression, one of the main goals of oncogenomics is to allow for the development of personalized cancer treatment. Cancer develops due to an accumulation of mutations in DNA. These mutations accumulate randomly, and thus, different DNA mutations and mutation combinations exist between different individuals with the same type of cancer. Thus, identifying and targeting specific mutations which have occurred in an individual patient may lead to increased efficacy of cancer therapy.The completion of the Human Genome Project has greatly facilitated the field of oncogenomics and has increased the abilities of researchers to find cancer causing genes. In addition, the sequencing technologies now available for sequence generation and data analysis have been applied to the study of oncogenomics. With the amount of research conducted on cancer genomes and the accumulation of databases documenting the mutational changes, it has been predicted that the most important cancer-causing mutations, rearrangements, and altered expression levels will be cataloged and well characterized within the next decade.Cancer research may look either on the genomic level at DNA mutations, the epigenetic level at methylation or histone modification changes, the transcription level at altered levels of gene expression, or the protein level at altered levels of protein abundance and function in cancer cells. Oncogenomics focuses on the genomic, epigenomic, and transcript level alterations in cancer.