HL7 V2.5.1 Genetic Test Result Message
... genomic and healthcare IT data standards may use this guide to extend these standards for support of clinical sequencing. Users of this guide must be familiar with the details of HL7 message construction and processing. This guide is not intended to be a tutorial on that subject. ...
... genomic and healthcare IT data standards may use this guide to extend these standards for support of clinical sequencing. Users of this guide must be familiar with the details of HL7 message construction and processing. This guide is not intended to be a tutorial on that subject. ...
frequency distribution of antimalarial drug
... African Republic, we determined the baseline frequency distribution of the mutant alleles of genes associated with resistance to chloroquine and sulfadoxine-pyrimethamine in the P. falciparum population. Samples collected in 2004 for in vitro drug sensitivity assays were used for testing for markers ...
... African Republic, we determined the baseline frequency distribution of the mutant alleles of genes associated with resistance to chloroquine and sulfadoxine-pyrimethamine in the P. falciparum population. Samples collected in 2004 for in vitro drug sensitivity assays were used for testing for markers ...
Gene Section BIN1 (bridging integrator 1) Atlas of Genetics and Cytogenetics
... integrating cell polarity signaling (Balguerie et al., 1999). Genetic ablation of the Bin1 homolog in fruit flies causes mislocalization of the cell polarity complex Dlg/Scr/Lgl, normally localized to the tight junction, that is implicated in epithelial polarity and suppression of tumor-like growths ...
... integrating cell polarity signaling (Balguerie et al., 1999). Genetic ablation of the Bin1 homolog in fruit flies causes mislocalization of the cell polarity complex Dlg/Scr/Lgl, normally localized to the tight junction, that is implicated in epithelial polarity and suppression of tumor-like growths ...
TBK1 Gene Duplication and Normal
... sum of these data strongly suggest that duplication of TBK1 causes 0.4% to 1.3% of NTG cases.18,19 However, animal and/or functional studies will be required to definitively prove that chromosome 12q14 duplications cause NTG by altering the function of TBK1 rather than through effects on other neigh ...
... sum of these data strongly suggest that duplication of TBK1 causes 0.4% to 1.3% of NTG cases.18,19 However, animal and/or functional studies will be required to definitively prove that chromosome 12q14 duplications cause NTG by altering the function of TBK1 rather than through effects on other neigh ...
Identification of novel endogenous antisense transcripts by DNA
... conserved NATs (antisense of Acaa1b and Aard) by performing Northern and in situ hybridization (ISH) analyses. Whereas human ACAA1 (acetyl-Coenzyme A acyltransferase 1) overlaps with DLEC1 (deleted in lung and esophageal cancer 1) in a tail-to-tail overlapping manner, its orthologous counterpart in ...
... conserved NATs (antisense of Acaa1b and Aard) by performing Northern and in situ hybridization (ISH) analyses. Whereas human ACAA1 (acetyl-Coenzyme A acyltransferase 1) overlaps with DLEC1 (deleted in lung and esophageal cancer 1) in a tail-to-tail overlapping manner, its orthologous counterpart in ...
Glioma heterogeneity and the LAT-1
... Glioma heterogeneity and the L-Amino acid transporter-1 (LAT1): A first step to stratified BPA-based BNCT? ...
... Glioma heterogeneity and the L-Amino acid transporter-1 (LAT1): A first step to stratified BPA-based BNCT? ...
Mutant Fruit Flies: Exploratorium Exhibit. Mutations in
... Mutations are neither good nor bad: some may be beneficial for an organism; others may be lethal. By creating new gene versions, mutations are a driving force for changes in evolution, sometimes leading to new species. Biologists learn about the proper function of any gene by studying mutations. If ...
... Mutations are neither good nor bad: some may be beneficial for an organism; others may be lethal. By creating new gene versions, mutations are a driving force for changes in evolution, sometimes leading to new species. Biologists learn about the proper function of any gene by studying mutations. If ...
Renal Cell Carcinoma: Recent Advances in Genetics and Imaging
... with types 1 and 2 B VHL disease are at high risk of developing clear cell RCCs. Clear cell RCCs occur in 75% of VHL patients by the sixth decade and are a leading cause of morbidity and mortality.13 VHL gene encodes for pVHL (VHL protein), a key component of cellular oxygen homeostatic mechanism. A ...
... with types 1 and 2 B VHL disease are at high risk of developing clear cell RCCs. Clear cell RCCs occur in 75% of VHL patients by the sixth decade and are a leading cause of morbidity and mortality.13 VHL gene encodes for pVHL (VHL protein), a key component of cellular oxygen homeostatic mechanism. A ...
Complex genetic background in a large family with Brugada syndrome
... ST-segment elevation in V1–V3 leads and negative T wave on standard ECG. BrS patients are at risk of sudden cardiac death (SCD) due to ventricular tachyarrhythmia. At least 17 genes have been proposed to be linked to BrS, although recent findings suggested a polygenic background. Mutations in SCN5A, ...
... ST-segment elevation in V1–V3 leads and negative T wave on standard ECG. BrS patients are at risk of sudden cardiac death (SCD) due to ventricular tachyarrhythmia. At least 17 genes have been proposed to be linked to BrS, although recent findings suggested a polygenic background. Mutations in SCN5A, ...
Gsp1 Triggers the Sexual Developmental Program
... 2001). Lee et al. (2008) identified the mt2 gamete–specific homeodomain gene GSM1. The ectopic expression of GSM1 in mt+ gametes also enhances the transcription of zygote-specific genes, and it has recently been shown that Gsp1 and Gsm1 physically interact upon the formation of zygotes and that the Gsp ...
... 2001). Lee et al. (2008) identified the mt2 gamete–specific homeodomain gene GSM1. The ectopic expression of GSM1 in mt+ gametes also enhances the transcription of zygote-specific genes, and it has recently been shown that Gsp1 and Gsm1 physically interact upon the formation of zygotes and that the Gsp ...
Gsp1 Triggers the Sexual Developmental Program
... 2001). Lee et al. (2008) identified the mt2 gamete–specific homeodomain gene GSM1. The ectopic expression of GSM1 in mt+ gametes also enhances the transcription of zygote-specific genes, and it has recently been shown that Gsp1 and Gsm1 physically interact upon the formation of zygotes and that the Gsp ...
... 2001). Lee et al. (2008) identified the mt2 gamete–specific homeodomain gene GSM1. The ectopic expression of GSM1 in mt+ gametes also enhances the transcription of zygote-specific genes, and it has recently been shown that Gsp1 and Gsm1 physically interact upon the formation of zygotes and that the Gsp ...
Development and validation of a diagnostic service for epimutations
... No evidence of known microdeletions in NESP55 (sporadic). ...
... No evidence of known microdeletions in NESP55 (sporadic). ...
Direct Deletion Analysis in Two Duchenne Muscular Dystrophy
... We determined the segregation of the STR (CA)n alleles that were located within the deletion-prone regions 5’DYS-II, 07A, 5’-7n4, STR 44, STR 45, STR 49, and STR 50. The PCR products of the alleles were analyzed by superimposing the traces of the proband to that of her relatives. The haplotypes of t ...
... We determined the segregation of the STR (CA)n alleles that were located within the deletion-prone regions 5’DYS-II, 07A, 5’-7n4, STR 44, STR 45, STR 49, and STR 50. The PCR products of the alleles were analyzed by superimposing the traces of the proband to that of her relatives. The haplotypes of t ...
Duchenne and Becker Types of Muscular Dystrophy
... gene may have a variation in the instruction that causes the gene to no longer function properly. This variation is called a mutation or pathogenic variant, and means that the product produced by the gene, called a protein, is impaired or even absent. Gene mutations may be inherited from a parent, o ...
... gene may have a variation in the instruction that causes the gene to no longer function properly. This variation is called a mutation or pathogenic variant, and means that the product produced by the gene, called a protein, is impaired or even absent. Gene mutations may be inherited from a parent, o ...
Resistance to cephalosporins and carbapenems in Gram
... original definition due to extension of the spectrum of already widely disseminated plasmid-encoded -lactamases by amino acid substitution; (b) acquisition of genes encoding ESBL from environmental bacteria as, for instance the CTX-M-type -lactamases from Kluyvera spp.; (c) high-level expression of ...
... original definition due to extension of the spectrum of already widely disseminated plasmid-encoded -lactamases by amino acid substitution; (b) acquisition of genes encoding ESBL from environmental bacteria as, for instance the CTX-M-type -lactamases from Kluyvera spp.; (c) high-level expression of ...
Comparative Analysis of Structural Diversity and
... synonymous and nonsynonymous substitution rates have increased considerably in the transferred genes compared with their mitochondrial counterparts, and the degree of rate acceleration varies by gene, species, and evolutionary timing of transfer. Pairwise and branchwise Ka/Ks analysis identified fou ...
... synonymous and nonsynonymous substitution rates have increased considerably in the transferred genes compared with their mitochondrial counterparts, and the degree of rate acceleration varies by gene, species, and evolutionary timing of transfer. Pairwise and branchwise Ka/Ks analysis identified fou ...
The msh2 Gene of Schizosaccharomyces pombe Is
... homology to the Msh2 subgroup. msh2 disruption gives rise to increased mitotic mutation rates and increased levels of postmeiotic segregation of genetic markers. In bandshift assays performed with msh2D cell extracts, a general mismatch-binding activity is absent. By complementation assays, we showe ...
... homology to the Msh2 subgroup. msh2 disruption gives rise to increased mitotic mutation rates and increased levels of postmeiotic segregation of genetic markers. In bandshift assays performed with msh2D cell extracts, a general mismatch-binding activity is absent. By complementation assays, we showe ...
Article 1 Title: The pseudoautosomal regions of the U/V sex
... The structural analysis described above strongly indicated that the Ectocarpus PARs exhibit features resembling those of the non-recombining SDR. Recombination is completely suppressed within the SDR of the Ectocarpus sex chromosome [6] but analysis of molecular marker segregation has confirmed that ...
... The structural analysis described above strongly indicated that the Ectocarpus PARs exhibit features resembling those of the non-recombining SDR. Recombination is completely suppressed within the SDR of the Ectocarpus sex chromosome [6] but analysis of molecular marker segregation has confirmed that ...
Insights into three whole-genome duplications gleaned
... estimated gaps) is composed of 1,202 scaffolds, 274 of which have lengths >2 kb and 96 of which are >50 kb (Table S1). This is less than half the genome size of all members of the P. aurelia complex that have been sequenced (68-77 Mb) (McGrath et al., submitted), and consistent with P. caudatum havi ...
... estimated gaps) is composed of 1,202 scaffolds, 274 of which have lengths >2 kb and 96 of which are >50 kb (Table S1). This is less than half the genome size of all members of the P. aurelia complex that have been sequenced (68-77 Mb) (McGrath et al., submitted), and consistent with P. caudatum havi ...
Phytoalexin-Deficient Mutants of Arabidopsis Reveal That
... (Col-0) and examining their response to pathogens. Mutations in PADI, PAD2, and PAD4 caused enhanced susceptibility tothe bacterial pathogen Pseudomonas syringae pv. maculicola strain ES4326 (PsmES4326), while mutations in PAD3 or PAD5 did not. Camalexin was not detected in any of the double mutants ...
... (Col-0) and examining their response to pathogens. Mutations in PADI, PAD2, and PAD4 caused enhanced susceptibility tothe bacterial pathogen Pseudomonas syringae pv. maculicola strain ES4326 (PsmES4326), while mutations in PAD3 or PAD5 did not. Camalexin was not detected in any of the double mutants ...
Mutational analysis of protein phosphatase 2C involved in abscisic
... mesophyll protoplasts (Fig. 3B). However, two mutations (G174D and DGH177–179KLN) abolished the ability of ABI1 to block ABA-inducible transcription (Fig. 3C). PP2C activity assays using cell extracts from transfected maize mesophyll protoplasts (Fig. 3D) or transformed E. coli cells (Fig. 3E) confi ...
... mesophyll protoplasts (Fig. 3B). However, two mutations (G174D and DGH177–179KLN) abolished the ability of ABI1 to block ABA-inducible transcription (Fig. 3C). PP2C activity assays using cell extracts from transfected maize mesophyll protoplasts (Fig. 3D) or transformed E. coli cells (Fig. 3E) confi ...
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.