Standard Mutation Nomenclature in Molecular Diagnostics
... Another important issue is the choice of proper nomenclature for intronic variants. To describe an intronic variant clearly and unequivocally, one should use a genomic reference sequence that contains uninterrupted genomic DNA sequence including introns. In contrast, a coding DNA reference sequence ...
... Another important issue is the choice of proper nomenclature for intronic variants. To describe an intronic variant clearly and unequivocally, one should use a genomic reference sequence that contains uninterrupted genomic DNA sequence including introns. In contrast, a coding DNA reference sequence ...
The Genetics of Alcohol Metabolism
... The primary enzymes involved in alcohol metabolism are alcohol dehydrogenase (ADH) and aldehyde dehydrogenase (ALDH). Both enzymes occur in several forms that are encoded by different genes; moreover, there are variants (i.e., alleles) of some of these genes that encode enzymes with different charac ...
... The primary enzymes involved in alcohol metabolism are alcohol dehydrogenase (ADH) and aldehyde dehydrogenase (ALDH). Both enzymes occur in several forms that are encoded by different genes; moreover, there are variants (i.e., alleles) of some of these genes that encode enzymes with different charac ...
Gene Section CLTC (clathrin heavy polypeptide) Atlas of Genetics and Cytogenetics
... Must not be confused with CLTCL1 (clathrin heavy polypeptide-like 1). ...
... Must not be confused with CLTCL1 (clathrin heavy polypeptide-like 1). ...
Supplementary Figure Legends - Word file
... digested with EcoRV and PvuII which allows to discriminate between episomal and integrated forms. Southern blots were probed with fragments detecting the single copy pfsir2 ...
... digested with EcoRV and PvuII which allows to discriminate between episomal and integrated forms. Southern blots were probed with fragments detecting the single copy pfsir2 ...
Expression of E. coli Phosphofructokinase Gene in an Autotrophic
... Tt-7 transconjugants, respectively (Fig. 4, lanes 2, 4, and 5), whereas no polypeptide bands of the corresponding size were detectable in E. coli DF1010 and Tt-7 (Fig. 4, lanes 3 and 6). Agarose gel electrophoresis of RT-PCR products confirmed that the pfkA gene was expressed in Tt7 transconjugants ...
... Tt-7 transconjugants, respectively (Fig. 4, lanes 2, 4, and 5), whereas no polypeptide bands of the corresponding size were detectable in E. coli DF1010 and Tt-7 (Fig. 4, lanes 3 and 6). Agarose gel electrophoresis of RT-PCR products confirmed that the pfkA gene was expressed in Tt7 transconjugants ...
Genomic gains and losses influence expression levels of genes
... normal’ was determined. In addition, differentially expressed genes were identified by means of the two-sample t-statistic score with correction for unequal variances.6 The analysis was programmed using R (version 1.7.1; www.r-project.org/). ...
... normal’ was determined. In addition, differentially expressed genes were identified by means of the two-sample t-statistic score with correction for unequal variances.6 The analysis was programmed using R (version 1.7.1; www.r-project.org/). ...
Translation
... A specific RNA structure in the mRNA (a stem and loop structure with a particular nucleotide sequence) signals that selenocysteine is to be inserted at the neighboring UGA codon. This event requires the participation of a selenocysteine-specific translation factor ...
... A specific RNA structure in the mRNA (a stem and loop structure with a particular nucleotide sequence) signals that selenocysteine is to be inserted at the neighboring UGA codon. This event requires the participation of a selenocysteine-specific translation factor ...
Life: The Science of Biology, 10e
... nucleotides in experimental settings. • An artificial ribozyme has been developed that can catalyze assembly of short RNAs into a longer molecule that is an exact copy of itself. ...
... nucleotides in experimental settings. • An artificial ribozyme has been developed that can catalyze assembly of short RNAs into a longer molecule that is an exact copy of itself. ...
The Pleiotropy Problem for Evolution
... pituitary gland, which increases not only height and size of hand and foot, but also controls the entire body size. Many genes have well-known pleiotropic effects, including one important gene called p53 and all heat-shock genes that are part of the genetic systems responding to temperature fluctuati ...
... pituitary gland, which increases not only height and size of hand and foot, but also controls the entire body size. Many genes have well-known pleiotropic effects, including one important gene called p53 and all heat-shock genes that are part of the genetic systems responding to temperature fluctuati ...
MIE_Tutorial_OBOFoun.. - Buffalo Ontology Site
... GO provides a controlled system of representations for use in annotating data • multi-species, multi-disciplinary, open source • contributing to the cumulativity of scientific results obtained by distinct research communities ...
... GO provides a controlled system of representations for use in annotating data • multi-species, multi-disciplinary, open source • contributing to the cumulativity of scientific results obtained by distinct research communities ...
Parkinsonian phenotype in Machado-Joseph disease (MJD/SCA3): a two-case report Open Access
... those of European origin [7]. MJD phenotypes with EPS, particularly those with a PD-like phenotype, may result from epistatic effects of variants in other loci. As primary candidates are PD associated loci, namely PARK2, LRRK2, PINK1, DJ-1, SNCA, MAPT, and APOE (e.g. [8-10]). Variation in mitochondr ...
... those of European origin [7]. MJD phenotypes with EPS, particularly those with a PD-like phenotype, may result from epistatic effects of variants in other loci. As primary candidates are PD associated loci, namely PARK2, LRRK2, PINK1, DJ-1, SNCA, MAPT, and APOE (e.g. [8-10]). Variation in mitochondr ...
Des - Evolution of Developmental Genes
... • Cloning of opossum IGF2 was succesful • 3 of 4 sequences were identical to each other and to opossum IGF-2 ...
... • Cloning of opossum IGF2 was succesful • 3 of 4 sequences were identical to each other and to opossum IGF-2 ...
Introductory Molecular and Cell Biology (Shors, Kostman)
... Molecular and Cellular Biology) is core course within all three of the aforementioned majors. The unifying theme in this course is the oneness of all earthly life forms, attesting to their common evolutionary origin. As described in the COLS's learning objectives, in addition to studying the factual ...
... Molecular and Cellular Biology) is core course within all three of the aforementioned majors. The unifying theme in this course is the oneness of all earthly life forms, attesting to their common evolutionary origin. As described in the COLS's learning objectives, in addition to studying the factual ...
POTE Paralogs Are Induced and Differentially Expressed in Many
... clone is based on its BLAST score against this database. The paralog giving the best score is assigned to the clone. The raw sequence data can be used without vector trimming or additional cleaning step. Fluorescence in situ hybridization and spectral karyotyping. Labeled POTE probe (6) was hybridiz ...
... clone is based on its BLAST score against this database. The paralog giving the best score is assigned to the clone. The raw sequence data can be used without vector trimming or additional cleaning step. Fluorescence in situ hybridization and spectral karyotyping. Labeled POTE probe (6) was hybridiz ...
Chart 1
... Women are more likely to be symptomatic (sex bias) - Most common form of short limbed dwarfism - Short stature with shortening of the limbs, genu varum, trident hand - Frontal bossing, mid-face hypoplasia and macrocephaly - Exaggerated lumbar lordosis - Prone to obesity ** Complete Penetrance, 80% c ...
... Women are more likely to be symptomatic (sex bias) - Most common form of short limbed dwarfism - Short stature with shortening of the limbs, genu varum, trident hand - Frontal bossing, mid-face hypoplasia and macrocephaly - Exaggerated lumbar lordosis - Prone to obesity ** Complete Penetrance, 80% c ...
Gene Section ALOX5 (arachidonate 5-lipoxygenase) Atlas of Genetics and Cytogenetics
... shown to stimulate proliferation, as well as the proliferation of the mitogenic intracellular tyrosine kinases, MEK/ERK and PI3 kinase/AKT. ...
... shown to stimulate proliferation, as well as the proliferation of the mitogenic intracellular tyrosine kinases, MEK/ERK and PI3 kinase/AKT. ...
Chapter 1 Genes Are DNA
... • Complementary single strands can renature or anneal when the temperature is reduced. Figure 01.23: Denatured single strands of DNA can renature to give the duplex form. ...
... • Complementary single strands can renature or anneal when the temperature is reduced. Figure 01.23: Denatured single strands of DNA can renature to give the duplex form. ...
genetic control of pigment differentiation in somatic cells
... Let us focus our attention on the latter process and ask the following question: what would be an ideal system for studying the genetic control of somatic cell differentiation? As an elementary system for such studies, one might pick a tissue in which all of its cells were of the same cellular type ...
... Let us focus our attention on the latter process and ask the following question: what would be an ideal system for studying the genetic control of somatic cell differentiation? As an elementary system for such studies, one might pick a tissue in which all of its cells were of the same cellular type ...
Localization of Three Genes in the Hook
... genome, on another chromosome, B9 [29]. We confirmed that the CAD gene was located on a chromosome with the same relative dimensions as B9, on the basis of the relative lengths of the p and q arms, and that this chromosome was different from the one on which the other two genes were located (Fig. 2D ...
... genome, on another chromosome, B9 [29]. We confirmed that the CAD gene was located on a chromosome with the same relative dimensions as B9, on the basis of the relative lengths of the p and q arms, and that this chromosome was different from the one on which the other two genes were located (Fig. 2D ...
RNA-Seq
RNA-seq (RNA sequencing), also called whole transcriptome shotgun sequencing (WTSS), is a technology that uses the capabilities of next-generation sequencing to reveal a snapshot of RNA presence and quantity from a genome at a given moment in time.