mutation and Y486D mutation in exon 5 of the UGT1A1 - Funpec-RP
... level of 1-6 mg/dL (Bosma et al., 1995; Bayram et al., 2013). CN is related to inborn errors in metabolism and are inherited as autosomal recessive traits. These traits result from unconjugated hyperbilirubinemia because of defective bilirubin uridinediphosphate (UDP)glucuronosyltransferase (UGT1A1) ...
... level of 1-6 mg/dL (Bosma et al., 1995; Bayram et al., 2013). CN is related to inborn errors in metabolism and are inherited as autosomal recessive traits. These traits result from unconjugated hyperbilirubinemia because of defective bilirubin uridinediphosphate (UDP)glucuronosyltransferase (UGT1A1) ...
ANALYSIS OF MULTIPLE RESTRICTION FRAGMENT LENGTH
... probes and containing an insert of 14 .5 kb, termed XGSB 16.1, was restriction mapped (Fig. 1 B) . The Pvu II-Bam HI fragment, GB2PE, which contained neither human repeats nor CRI-1- and CRI-4-like sequences, hybridized to the 14.5-kb Bam HI fragment characteristic ofan S allele and to nonallelic fr ...
... probes and containing an insert of 14 .5 kb, termed XGSB 16.1, was restriction mapped (Fig. 1 B) . The Pvu II-Bam HI fragment, GB2PE, which contained neither human repeats nor CRI-1- and CRI-4-like sequences, hybridized to the 14.5-kb Bam HI fragment characteristic ofan S allele and to nonallelic fr ...
WW Genetic Counselor English - Wonderwise
... they decide to have one. Cathy enjoys her job because it is part detective work, part people work, and part science. It is a new field where discoveries are made every day. To do her job well she constantly needs to learn new things and how to use new tools. One of Cathy’s tools is a picture of a pe ...
... they decide to have one. Cathy enjoys her job because it is part detective work, part people work, and part science. It is a new field where discoveries are made every day. To do her job well she constantly needs to learn new things and how to use new tools. One of Cathy’s tools is a picture of a pe ...
P57: Beckwith-Wiedemann Syndrome
... Inherited in autosomal dominant fashion Mapped to chromosome 11p15 Translocation breakpoints found within chromosome map to three distinct regions Region 1, BWSCR1, contains 5 translocation breakpoints, which all disrupt the KCNQ1 gene and is the region of primary concern ...
... Inherited in autosomal dominant fashion Mapped to chromosome 11p15 Translocation breakpoints found within chromosome map to three distinct regions Region 1, BWSCR1, contains 5 translocation breakpoints, which all disrupt the KCNQ1 gene and is the region of primary concern ...
HTR1A a Novel Type 1 Diabetes Susceptibility
... were recruited between May 2005 and September 2009 from 40 pediatric clinics in Sweden [6]. At follow up, 95% of the patients were classified as T1D while the remaining 5% were classified with type 2, MODY, secondary, ‘‘other’’ or ‘‘unknown’’ type of diabetes. All patients of non-European descent we ...
... were recruited between May 2005 and September 2009 from 40 pediatric clinics in Sweden [6]. At follow up, 95% of the patients were classified as T1D while the remaining 5% were classified with type 2, MODY, secondary, ‘‘other’’ or ‘‘unknown’’ type of diabetes. All patients of non-European descent we ...
lecture 1 File
... DNA or RNA and the protein coat. Transduction is especially important because it explains one mechanism by which antibiotic drugs become ineffective due to the transfer of antibiotic-resistance genes between bacteria. In addition, hopes to create medical methods of genetic modification of diseases s ...
... DNA or RNA and the protein coat. Transduction is especially important because it explains one mechanism by which antibiotic drugs become ineffective due to the transfer of antibiotic-resistance genes between bacteria. In addition, hopes to create medical methods of genetic modification of diseases s ...
- University of Bath Opus
... similarity in sex-biased gene expression among neighbouring genes. Whether this clustering of genes with similar expression profiles is functional or instead the result of transcriptional interference with adjacent genes displaying non-functional but significant similarity in patterns of gene expres ...
... similarity in sex-biased gene expression among neighbouring genes. Whether this clustering of genes with similar expression profiles is functional or instead the result of transcriptional interference with adjacent genes displaying non-functional but significant similarity in patterns of gene expres ...
Chapter 3
... date, no data on genetic aspects of mesoderm formation are available for animals from the third bilaterian clade, the lophotrochozoans. Therefore, we decided to compare genes known to be involved in mesoderm formation in deuterostomes and ecdysozoans with orthologs of those genes in lophotrochozoans ...
... date, no data on genetic aspects of mesoderm formation are available for animals from the third bilaterian clade, the lophotrochozoans. Therefore, we decided to compare genes known to be involved in mesoderm formation in deuterostomes and ecdysozoans with orthologs of those genes in lophotrochozoans ...
Gene families and evolution of trehalose
... The class I subfamily of TPS genes encodes catalytically active TPS enzymes, and is represented by only one or two genes in most species. A. thaliana is atypical in having four class I TPS genes, three of which (AtTPS2–4) encode unusual short isoforms of TPS that appear to be found only in members o ...
... The class I subfamily of TPS genes encodes catalytically active TPS enzymes, and is represented by only one or two genes in most species. A. thaliana is atypical in having four class I TPS genes, three of which (AtTPS2–4) encode unusual short isoforms of TPS that appear to be found only in members o ...
Molecular Signatures of Natural Selection for Polymorphic Genes of
... of polymorphisms in genes of the dopaminergic and serotonergic systems. Along with this, there has been considerable interest in the possibility that these polymorphisms have developed and/or been maintained due to the action of natural selection. Episodes of natural selection on a gene are expected ...
... of polymorphisms in genes of the dopaminergic and serotonergic systems. Along with this, there has been considerable interest in the possibility that these polymorphisms have developed and/or been maintained due to the action of natural selection. Episodes of natural selection on a gene are expected ...
Document
... 1) In the abstract and the main text abbreviations and distinct scientific terms should be explained when appearing the first time: i.e. P5CD, PUA domain, G5K, Ka/Ks analysis, etc etc 2) All (!) tables and figures lack a legend. These should be added so that each figure and table stands alone, self- ...
... 1) In the abstract and the main text abbreviations and distinct scientific terms should be explained when appearing the first time: i.e. P5CD, PUA domain, G5K, Ka/Ks analysis, etc etc 2) All (!) tables and figures lack a legend. These should be added so that each figure and table stands alone, self- ...
Surveying Saccharomyces Genomes to Identify Functional Elements
... productive with DNA sequences of relatively closely related organisms. We sought to gain experience with this by comparing the DNA sequences of yeasts of the Saccharomyces genus because (1) the complete Saccharomyces cerevisiae genome sequence is available for comparison (Goffeau et al. 1996); (2) t ...
... productive with DNA sequences of relatively closely related organisms. We sought to gain experience with this by comparing the DNA sequences of yeasts of the Saccharomyces genus because (1) the complete Saccharomyces cerevisiae genome sequence is available for comparison (Goffeau et al. 1996); (2) t ...
J Mol Evol (2007) 65:541–554 - digital
... immune system and bind peptides derived from the processing of extracellular pathogens such as bacteria or parasites. The MHC class II protein consists of two amino acid chains, called a and b, encoded by MHC class II A and MHC class II B genes, respectively. While both amino acid chains shape the p ...
... immune system and bind peptides derived from the processing of extracellular pathogens such as bacteria or parasites. The MHC class II protein consists of two amino acid chains, called a and b, encoded by MHC class II A and MHC class II B genes, respectively. While both amino acid chains shape the p ...
in plant physiology
... gene expression, lipid metabolism and other processes, 30 tRNA genes and full sets of rRNA genes. In spite of their small genomes (0.15 Mbp in land plant chloroplasts versus 3 Mbp in cyanobacteria), chloroplast gene expression is regulated by more complex systems compared to the simple prokaryotic r ...
... gene expression, lipid metabolism and other processes, 30 tRNA genes and full sets of rRNA genes. In spite of their small genomes (0.15 Mbp in land plant chloroplasts versus 3 Mbp in cyanobacteria), chloroplast gene expression is regulated by more complex systems compared to the simple prokaryotic r ...
The Evolution of CONSTANS-Like Gene Families
... The CO (CONSTANS) gene of Arabidopsis has an important role in the regulation of flowering by photoperiod. CO is part of a gene family with 17 members that are subdivided into three classes, termed Group I to III here. All members of the family have a CCT (CO, CO-like, TOC1) domain near the carboxy ...
... The CO (CONSTANS) gene of Arabidopsis has an important role in the regulation of flowering by photoperiod. CO is part of a gene family with 17 members that are subdivided into three classes, termed Group I to III here. All members of the family have a CCT (CO, CO-like, TOC1) domain near the carboxy ...
Opposing Activities of DRM and MES
... somatic and germ cells, but dampening occurs by different mechanisms in the two cell types. In the hermaphrodite soma, a “dosage compensation complex” related to chromosome condensation factors binds the two X chromosomes and down-regulates their expression to equal that of the single X in males (Me ...
... somatic and germ cells, but dampening occurs by different mechanisms in the two cell types. In the hermaphrodite soma, a “dosage compensation complex” related to chromosome condensation factors binds the two X chromosomes and down-regulates their expression to equal that of the single X in males (Me ...
Identification of Full and Partial Class Relevant Genes
... classification problems. Signal-to-noise ratio [1], t-test [2], between-groups to within-groups ratio [3], support vector machine (SVM) based on recursive feature elimination method [4], and least squares bound method [5], etc. are among those applicable mainly to two-class problems. Microarray data ...
... classification problems. Signal-to-noise ratio [1], t-test [2], between-groups to within-groups ratio [3], support vector machine (SVM) based on recursive feature elimination method [4], and least squares bound method [5], etc. are among those applicable mainly to two-class problems. Microarray data ...
Analysis of TALE superclass homeobox genes
... glycine, there might not even be a strong interaction with the DNA, and additional specificity might be conferred by other parts of the protein, for example the N-terminal region of the homeodomain. The characteristic differences between typical homeobox genes and the TALE class demonstrates that th ...
... glycine, there might not even be a strong interaction with the DNA, and additional specificity might be conferred by other parts of the protein, for example the N-terminal region of the homeodomain. The characteristic differences between typical homeobox genes and the TALE class demonstrates that th ...
Friedman N, Linial M, Nachman I, Pe'er D. (2000). Using Bayesian networks to analyze expression data. J Comput Biol. 7, 601-20.
... (Pearl, 1988). These networks represent the dependence structure between multiple interacting quantities (e.g., expression levels of different genes). Our approach, probabilistic in nature, is capable of handling noise and estimating the con dence in the different features of the network. We are, t ...
... (Pearl, 1988). These networks represent the dependence structure between multiple interacting quantities (e.g., expression levels of different genes). Our approach, probabilistic in nature, is capable of handling noise and estimating the con dence in the different features of the network. We are, t ...
PDF
... pCR2.1-ACF1-flag using the Site-directed Mutagenesis Kit (Stratagene). The following pairs of oligonucleotides were used to delete the PHD1 or PHD2, respectively: PHD1F, 5⬘-ACCAATAAGTCATTAGTCGACGTAAAGAGTCTGGGTCTCAGC-3⬘; PHD1R, 5⬘-ACCCAGACTCTTTACGTCGACTAATGACTTATTGGTGGAACGC-3⬘; PHD2F, 5⬘-GATGAGGAAAAG ...
... pCR2.1-ACF1-flag using the Site-directed Mutagenesis Kit (Stratagene). The following pairs of oligonucleotides were used to delete the PHD1 or PHD2, respectively: PHD1F, 5⬘-ACCAATAAGTCATTAGTCGACGTAAAGAGTCTGGGTCTCAGC-3⬘; PHD1R, 5⬘-ACCCAGACTCTTTACGTCGACTAATGACTTATTGGTGGAACGC-3⬘; PHD2F, 5⬘-GATGAGGAAAAG ...
Using Bayesian Networks to Analyze Expression Data
... (Pearl, 1988). These networks represent the dependence structure between multiple interacting quantities (e.g., expression levels of different genes). Our approach, probabilistic in nature, is capable of handling noise and estimating the con dence in the different features of the network. We are, t ...
... (Pearl, 1988). These networks represent the dependence structure between multiple interacting quantities (e.g., expression levels of different genes). Our approach, probabilistic in nature, is capable of handling noise and estimating the con dence in the different features of the network. We are, t ...
Inheritance of Autosomal Recessive Genetic Diseases
... disease, because the second gene can pull up the slack, and maintain health. In some recessive diseases, a carrier gets a mild form of the disease. For example, in X-linked recessive hemophilia, a female carrier has one bad gene on chromosome X, but the good gene on the other X chromosome produces e ...
... disease, because the second gene can pull up the slack, and maintain health. In some recessive diseases, a carrier gets a mild form of the disease. For example, in X-linked recessive hemophilia, a female carrier has one bad gene on chromosome X, but the good gene on the other X chromosome produces e ...
Site-specific recombinase technology
Nearly every human gene has a counterpart in the mouse (regardless of the fact that a minor set of orthologues had to follow species specific selection routes). This made the mouse the major model for elucidating the ways in which our genetic material encodes information. In the late 1980s gene targeting in murine embryonic stem (ES-)cells enabled the transmission of mutations into the mouse germ line and emerged as a novel option to study the genetic basis of regulatory networks as they exist in the genome. Still, classical gene targeting proved to be limited in several ways as gene functions became irreversibly destroyed by the marker gene that had to be introduced for selecting recombinant ES cells. These early steps led to animals in which the mutation was present in all cells of the body from the beginning leading to complex phenotypes and/or early lethality. There was a clear need for methods to restrict these mutations to specific points in development and specific cell types. This dream became reality when groups in the USA were able to introduce bacteriophage and yeast-derived site-specific recombination (SSR-) systems into mammalian cells as well as into the mouse