FX 8 - ACMG
... Rare FMR1 mutations, unrelated to trinucleotide expansion may not be detected by this assay. Possible diagnostic errors include sample mix-ups and genotyping errors resulting from trace contamination of PCRs, maternal cell contamination of fetal samples and from rare polymorphisms, which interfere w ...
... Rare FMR1 mutations, unrelated to trinucleotide expansion may not be detected by this assay. Possible diagnostic errors include sample mix-ups and genotyping errors resulting from trace contamination of PCRs, maternal cell contamination of fetal samples and from rare polymorphisms, which interfere w ...
Non-additive genome-wide association scan reveals a new gene
... with common disorders. For example, coffee consumption has been linked to protective effects on various common pathologies such as cardiovascular diseases3, hypertension4,5, Alzheimer’s and Parkinson’s diseases6,7, type 2 diabetes8–10, some types of cancer11,12 and hearing functions13, while it may ...
... with common disorders. For example, coffee consumption has been linked to protective effects on various common pathologies such as cardiovascular diseases3, hypertension4,5, Alzheimer’s and Parkinson’s diseases6,7, type 2 diabetes8–10, some types of cancer11,12 and hearing functions13, while it may ...
Introduction
... The section above needs further expansion..needs more on genes possibly involved in sperm-egg interactions eg GEX2 The sperm cells are transported close to the tip of the pollen tube and are, therefore in a prime position to process directional signals for the tube. HAP2 is an integral membrane prot ...
... The section above needs further expansion..needs more on genes possibly involved in sperm-egg interactions eg GEX2 The sperm cells are transported close to the tip of the pollen tube and are, therefore in a prime position to process directional signals for the tube. HAP2 is an integral membrane prot ...
カイコの油蚕変異体に関する
... positions were selected using siDirect ver. 2.0 (http://sidirect2.rnai.jp/). Two and one pair of optimal sequences for Bmdysb and EGFP, respectively, were selected from a list of potential candidates provided by siDirect as described previously (Yamaguchi et al., 2011). EGFP was used as a control. T ...
... positions were selected using siDirect ver. 2.0 (http://sidirect2.rnai.jp/). Two and one pair of optimal sequences for Bmdysb and EGFP, respectively, were selected from a list of potential candidates provided by siDirect as described previously (Yamaguchi et al., 2011). EGFP was used as a control. T ...
Peer-reviewed Article PDF
... PAH native-state stability of 318 PKU-associated missense mutations, using the protein-design algorithm FoldX has been studied [16]. For the 80 mutations for which expression analyses had been performed in eukaryotes, in most cases they found substantial overall correlation between the mutational en ...
... PAH native-state stability of 318 PKU-associated missense mutations, using the protein-design algorithm FoldX has been studied [16]. For the 80 mutations for which expression analyses had been performed in eukaryotes, in most cases they found substantial overall correlation between the mutational en ...
Transcription factories are nuclear subcompartments that remain in
... that genes migrate to pre-existing specialized sites in the nucleus for transcription. However, whether transcription factories are simply aggregates of RNAPII on individual active genes or independent structures is still unclear. In this study we assessed RNAPII localization during short-term trans ...
... that genes migrate to pre-existing specialized sites in the nucleus for transcription. However, whether transcription factories are simply aggregates of RNAPII on individual active genes or independent structures is still unclear. In this study we assessed RNAPII localization during short-term trans ...
computation for chIP-seq and rNA-seq studies
... reads in ChIP-seq is often determined empirically from a control reaction, but some algorithms model the background from the ChIP sample itself. Whichever approach is taken, the background read-tag distribution is not reliably uniform, nor is it identical for all cell types and tissues of the same o ...
... reads in ChIP-seq is often determined empirically from a control reaction, but some algorithms model the background from the ChIP sample itself. Whichever approach is taken, the background read-tag distribution is not reliably uniform, nor is it identical for all cell types and tissues of the same o ...
Transcriptional Repression of Hox Genes by C. elegans HP1/HPL
... Linker histone (H1) and heterochromatin protein 1 (HP1) play central roles in the formation of higher-order chromatin structure and gene expression. Recent studies have shown a physical interaction between H1 and HP1; however, the biological role of histone H1 and HP1 is not well understood. Additio ...
... Linker histone (H1) and heterochromatin protein 1 (HP1) play central roles in the formation of higher-order chromatin structure and gene expression. Recent studies have shown a physical interaction between H1 and HP1; however, the biological role of histone H1 and HP1 is not well understood. Additio ...
Role of L-Ascorbic Acid in Rice Plants
... recycling is required. MDHAR and DHAR are two enzymes responsible for AsA recycling. Chen et al. (2003) confirmed that overexpression of DHAR in plants would increase AsA content through improved recycling. A cDNA encoding the rice DHAR was first cloned by Urano et al. (2000). The mRNA level of DHAR ...
... recycling is required. MDHAR and DHAR are two enzymes responsible for AsA recycling. Chen et al. (2003) confirmed that overexpression of DHAR in plants would increase AsA content through improved recycling. A cDNA encoding the rice DHAR was first cloned by Urano et al. (2000). The mRNA level of DHAR ...
Specialized adaptation of a lactic acid bacterium to the milk
... streptococcal counterparts. Functional genome distribution analysis of ORFeomes among streptococci showed that all three S. thermophilus strains formed a distinct functional cluster, further establishing their specialized adaptation to the nutrient-rich milk niche. An upregulation of CRISPR1 express ...
... streptococcal counterparts. Functional genome distribution analysis of ORFeomes among streptococci showed that all three S. thermophilus strains formed a distinct functional cluster, further establishing their specialized adaptation to the nutrient-rich milk niche. An upregulation of CRISPR1 express ...
Rosana Segovia HGT - Repositorio Digital USFQ
... transfer (HGT), creating a major public health issue that is attributed to excessive use of antibiotics. However, these resistance genes have also been found in communities in Bolivia that have limited access to antibiotics. In the present study, we investigated the presence and dissemination of ant ...
... transfer (HGT), creating a major public health issue that is attributed to excessive use of antibiotics. However, these resistance genes have also been found in communities in Bolivia that have limited access to antibiotics. In the present study, we investigated the presence and dissemination of ant ...
Physiological Genomics of Antidepressant Targets: Keeping the
... heterozygosity of our probands results in such a profound phenotype (M. Hahn and R. D. Blakely, unpublished observations). We suspect that other subjects with OI-like phenotypes may harbor additional nonsynonymous NET mutations or have alterations in critical regulatory regions. OI, like depression ...
... heterozygosity of our probands results in such a profound phenotype (M. Hahn and R. D. Blakely, unpublished observations). We suspect that other subjects with OI-like phenotypes may harbor additional nonsynonymous NET mutations or have alterations in critical regulatory regions. OI, like depression ...
Thetitanmutants ofArabidopsisare disrupted in mitosis and cell cycle
... mitotic cell cycles in plants. Recessive mutations that disrupt mitosis and cell cycle regulation in plants should result in lethality early in development if the altered protein has little residual activity and if duplicate genes and stored maternal products are unable to rescue mutant cells. In co ...
... mitotic cell cycles in plants. Recessive mutations that disrupt mitosis and cell cycle regulation in plants should result in lethality early in development if the altered protein has little residual activity and if duplicate genes and stored maternal products are unable to rescue mutant cells. In co ...
Phenotypic comparison between maternal and
... gap mutations cause large continuous deletions including several consecutive segments ...
... gap mutations cause large continuous deletions including several consecutive segments ...
Specialized Transduction by Bacteriophage P22 in Salmonella typhimurium: Genetic and Physical Structure of the Transducing Genomes and the Prophage Attachment Site.
... genomes can be produced and propagated.-A physical and genetic map of the P22 genome near the prophage attachment site was constructed which shows that the insertion from the R-factor in P22Tc-10 is not a t the attachment site: it is therefore unlikely that P22Tc-10 was formed in an abnormal prophag ...
... genomes can be produced and propagated.-A physical and genetic map of the P22 genome near the prophage attachment site was constructed which shows that the insertion from the R-factor in P22Tc-10 is not a t the attachment site: it is therefore unlikely that P22Tc-10 was formed in an abnormal prophag ...
Genetics introduction
... •Genotype of each parent? •What is the genotypic ratio? •What is the phenotypic ratio? •What percentage of the F1 generation will have a heterozygous genotype? •What is the probability that the 5th puppy will have a pink nose? ...
... •Genotype of each parent? •What is the genotypic ratio? •What is the phenotypic ratio? •What percentage of the F1 generation will have a heterozygous genotype? •What is the probability that the 5th puppy will have a pink nose? ...
Chapter 1 - Online Open Genetics
... proper term for their genotype is hemizygous to reflect only one copy of each gene. ...
... proper term for their genotype is hemizygous to reflect only one copy of each gene. ...
LIFE-SPAN DEVELOPMENT
... – Baby’s head moves through birth canal – Afterbirth when placenta, umbilical cord, and other membranes are detached and expelled ...
... – Baby’s head moves through birth canal – Afterbirth when placenta, umbilical cord, and other membranes are detached and expelled ...
Elyse Coolidge
... abusers, and 94% of heroin addicts are reported to have contracted Hepatitis C (Comings et al., 1999). As a result, heroin, its metabolite morphine, the opioid system, and the cannabinoid system, which has a demonstrated relationship to opioid addiction, have been studied extensively in the past 20 ...
... abusers, and 94% of heroin addicts are reported to have contracted Hepatitis C (Comings et al., 1999). As a result, heroin, its metabolite morphine, the opioid system, and the cannabinoid system, which has a demonstrated relationship to opioid addiction, have been studied extensively in the past 20 ...
Genetic Variation Underlying Sexual Behavior and Reproduction
... by response to artificial selection means. Heritability phenotypic may range from 0 to the theoreticai maximum of 1, estimated values sometimes although exceed 1. All heritability measurements statistical tests of significance, incorporate and rely on assumptions which limit value These (Falconer, ...
... by response to artificial selection means. Heritability phenotypic may range from 0 to the theoreticai maximum of 1, estimated values sometimes although exceed 1. All heritability measurements statistical tests of significance, incorporate and rely on assumptions which limit value These (Falconer, ...
News from the west: Ancient DNA from a French megalithic burial
... excavations directed by Laporte, Joussaume, and Scarre in tumulus C at Prissé-la-Charrière (Deux-Sèvres, Joussaume et al., 1998; Laporte et al., 2002, 2006; Scarre et al., 2003). The absence of disturbance since the Neolithic provided a unique opportunity to better understand the burial practices ...
... excavations directed by Laporte, Joussaume, and Scarre in tumulus C at Prissé-la-Charrière (Deux-Sèvres, Joussaume et al., 1998; Laporte et al., 2002, 2006; Scarre et al., 2003). The absence of disturbance since the Neolithic provided a unique opportunity to better understand the burial practices ...
A GENETIC EXPLANATION OF HOW GPRA IS INHERITED
... mated and affected individuals are born. However, the gene frequency may become unusually high due to breeding of close family members, or because of the "popular sire" effect, where a sire with a harmful recessive gene is mated frequently because of desirable traits. Because the recessive gene is c ...
... mated and affected individuals are born. However, the gene frequency may become unusually high due to breeding of close family members, or because of the "popular sire" effect, where a sire with a harmful recessive gene is mated frequently because of desirable traits. Because the recessive gene is c ...
rolduc meeting. feel connected!
... ‘feel connected’. First and foremost it symbolizes our aim to make all participants at the Retreat feel part of the ever expanding human genetics family. This family comprises ‘veterans’, but also many new PhD students from the different centres in the Netherlands and, this year for the first time, ...
... ‘feel connected’. First and foremost it symbolizes our aim to make all participants at the Retreat feel part of the ever expanding human genetics family. This family comprises ‘veterans’, but also many new PhD students from the different centres in the Netherlands and, this year for the first time, ...
Construction of a genetic linkage map of Thlaspi
... accessions originating from different soil types. This variation offers an excellent opportunity for further dissection of the genetics of this trait. • A T. caerulescens intraspecific cross was made between a plant from a nonmetallicolous accession [Lellingen (LE)], characterized by relatively high ...
... accessions originating from different soil types. This variation offers an excellent opportunity for further dissection of the genetics of this trait. • A T. caerulescens intraspecific cross was made between a plant from a nonmetallicolous accession [Lellingen (LE)], characterized by relatively high ...
Gene Duplication, Gene Conversion and the Evolution of
... recombination (Clark 1994; Otto and Yong 2002; also see Otto and Goldstein 1992). How does recombination alter the evolutionary dynamics of Y chromosomes? When duplicates do not directly increase fitness (sh ¼ 0), and there is no recombination, selection never favors invasion (Equation 1b above). We ...
... recombination (Clark 1994; Otto and Yong 2002; also see Otto and Goldstein 1992). How does recombination alter the evolutionary dynamics of Y chromosomes? When duplicates do not directly increase fitness (sh ¼ 0), and there is no recombination, selection never favors invasion (Equation 1b above). We ...