Human Genetic Variation Databases Workshop - Cordis
... general understanding of human physiological processes in both health and disease; the ability to analyse populations according to different classifications; the diagnosis and treatment of disease. An workshop of leading European bioinformaticians, biologists, medical researchers and clinicians was ...
... general understanding of human physiological processes in both health and disease; the ability to analyse populations according to different classifications; the diagnosis and treatment of disease. An workshop of leading European bioinformaticians, biologists, medical researchers and clinicians was ...
Identification of prokaryotic homologues indicates an endosymbiotic
... mutagenesis, it was shown that a highly conserved cysteine residue located at the N-terminus of the plant protein is the site for both pyruvate activation and disulfide bond formation (Finnegan et al., 1997; Rhoads et al., 1998). A cyanide-resistant oxidase has also been identified in the mitochondr ...
... mutagenesis, it was shown that a highly conserved cysteine residue located at the N-terminus of the plant protein is the site for both pyruvate activation and disulfide bond formation (Finnegan et al., 1997; Rhoads et al., 1998). A cyanide-resistant oxidase has also been identified in the mitochondr ...
A novel duplication in the HOXA13 gene in a family with atypical
... thumb. In the feet, metatarsal 1 and proximal phalanx 1 are short and the big toe deviates medially or, less commonly, laterally. Incomplete ossification and fusion of tarsal bones are also seen. Overall, the skeletal manifestations are invariable and highly penetrant, whereas the urogenital abnorma ...
... thumb. In the feet, metatarsal 1 and proximal phalanx 1 are short and the big toe deviates medially or, less commonly, laterally. Incomplete ossification and fusion of tarsal bones are also seen. Overall, the skeletal manifestations are invariable and highly penetrant, whereas the urogenital abnorma ...
Full-Text PDF
... 22, 25, 28, 30, 35, 37, 40 and 45 °C and pH 4.5, 5, 5.5, 6.0, 6.5, 6.8, 7.2, 7.5 and 8.0. Nitrogen sources were tested by using liquid LMM medium in which KNO3 (0.1 g·L−1) was replaced by 0.1 g·L−1 of NH4Cl, methylamine or glycine. The growth of strains was also tested in triplicate with nitrogen-fr ...
... 22, 25, 28, 30, 35, 37, 40 and 45 °C and pH 4.5, 5, 5.5, 6.0, 6.5, 6.8, 7.2, 7.5 and 8.0. Nitrogen sources were tested by using liquid LMM medium in which KNO3 (0.1 g·L−1) was replaced by 0.1 g·L−1 of NH4Cl, methylamine or glycine. The growth of strains was also tested in triplicate with nitrogen-fr ...
Preneoplastic lesions of the lung
... cell hyperplasia to CIS. They found dysplasia in up to 40% of heavy smokers [7,8]. In 1996, Agapitos and colleagues showed that in an autopsy study of 531 people who died of non-respiratory or non-cancer causes, the incidence of squamous metaplasia and dysplasia increased sequentially according to t ...
... cell hyperplasia to CIS. They found dysplasia in up to 40% of heavy smokers [7,8]. In 1996, Agapitos and colleagues showed that in an autopsy study of 531 people who died of non-respiratory or non-cancer causes, the incidence of squamous metaplasia and dysplasia increased sequentially according to t ...
Characteristics of the gene encoding pyrroline-5-carboxylate synthase (P5CS) in Glycine max
... in the nucleotide at position 374) continue to be cloning, checked and read the sequence of the gene to determine the exact point mutation. The result showed that C at position 374 of triplet GCC was replaced by A and GAC is new triplet and in amino acid sequence of protein Asp were replaced with Al ...
... in the nucleotide at position 374) continue to be cloning, checked and read the sequence of the gene to determine the exact point mutation. The result showed that C at position 374 of triplet GCC was replaced by A and GAC is new triplet and in amino acid sequence of protein Asp were replaced with Al ...
15_Lecture_Presentation
... Recombination of Linked Genes: Crossing Over • Morgan discovered that genes can be linked, but the linkage was incomplete, as evident from recombinant phenotypes • Morgan proposed that some process must sometimes break the physical connection between genes on the same chromosome • That mechanism wa ...
... Recombination of Linked Genes: Crossing Over • Morgan discovered that genes can be linked, but the linkage was incomplete, as evident from recombinant phenotypes • Morgan proposed that some process must sometimes break the physical connection between genes on the same chromosome • That mechanism wa ...
comparative evolution and development of the butterfly eyespot and
... be used in pattern formation, or about how conserved these mechanisms are. Work described in Chapter 2 of this thesis was aimed at testing the conservation and homology of butterfly eyespot patterning mechanisms across butterfly families. It is important to know how these interactions relate to proc ...
... be used in pattern formation, or about how conserved these mechanisms are. Work described in Chapter 2 of this thesis was aimed at testing the conservation and homology of butterfly eyespot patterning mechanisms across butterfly families. It is important to know how these interactions relate to proc ...
Genetics of dementia (405)
... the inheritance follows a more complex pattern. The disease might skip a generation, affect people on both sides of the family, appear seemingly from nowhere or not be passed on at all. More than 20 gene variants (or regions within the DNA) have now been identified which affect – to different degree ...
... the inheritance follows a more complex pattern. The disease might skip a generation, affect people on both sides of the family, appear seemingly from nowhere or not be passed on at all. More than 20 gene variants (or regions within the DNA) have now been identified which affect – to different degree ...
Serrated carcinomas form a subclass of colorectal cancer with
... BRAF are early events in the serrated pathway. The genes frequently altered in conventional CRCs, KRAS, p53 and APC are altered in a subset of serrated lesions as well. Approximately 20% of serrated adenomas display APC/b-catenin abnormalities and KRAS and p53 are mutated in 15 and 8% of serrated ad ...
... BRAF are early events in the serrated pathway. The genes frequently altered in conventional CRCs, KRAS, p53 and APC are altered in a subset of serrated lesions as well. Approximately 20% of serrated adenomas display APC/b-catenin abnormalities and KRAS and p53 are mutated in 15 and 8% of serrated ad ...
Analysis of Binary Relations and Hierarchies of Enzymes in the
... used for the interspecies comparison of the pathways. Since the data stored in KEGG has crosslinks to the existing databases, the user would be quickly navigated to them by our DBGET integrated database system[7]. KEGG is tightly coupled with the LIGAND database[8], which consists of catalytic react ...
... used for the interspecies comparison of the pathways. Since the data stored in KEGG has crosslinks to the existing databases, the user would be quickly navigated to them by our DBGET integrated database system[7]. KEGG is tightly coupled with the LIGAND database[8], which consists of catalytic react ...
Sequence Alignment - Mainlab Bioinformatics
... • Also known as dot plots, they represent the simplest method of evaluating similarity between two sequences • Identifies all possible matches of residues between the two sequences. • One sequence (A) is listed horizontally (top of page) and the other sequence (B) vertically (left side of page). • S ...
... • Also known as dot plots, they represent the simplest method of evaluating similarity between two sequences • Identifies all possible matches of residues between the two sequences. • One sequence (A) is listed horizontally (top of page) and the other sequence (B) vertically (left side of page). • S ...
Study of TAS2R38 Genes for Bitter Taste Depending on Heredity of
... phenotype T & NT, out which all theses couple had T and NT ,both genes in their children except two families ,which were NTxNT and had taster (T) child. No Taster-' Taster couples were seen in this Mathur population .Among the 30 males and 30 females under study,18 females were Non - tasters while 1 ...
... phenotype T & NT, out which all theses couple had T and NT ,both genes in their children except two families ,which were NTxNT and had taster (T) child. No Taster-' Taster couples were seen in this Mathur population .Among the 30 males and 30 females under study,18 females were Non - tasters while 1 ...
Y chromosome polymorphisms in medicine
... necessary only for sex determination. This has led to propose its future extinction in an evolutionary context (2, 3). This view has been challenged by the recent identi®cation of both an unexpected number and variety of Y chromosome genes, many of which with an ubiquitous expression, and by the pre ...
... necessary only for sex determination. This has led to propose its future extinction in an evolutionary context (2, 3). This view has been challenged by the recent identi®cation of both an unexpected number and variety of Y chromosome genes, many of which with an ubiquitous expression, and by the pre ...
Research in Biology
... expression between sexes. Strategies to determine sexual fate and to compensate X-chromosome dosage between sexes have evolved independently: mammals, flies, and worms use fundamentally different methods. Therefore, understanding the evolution of dosage compensation requires comparisons over shorter ...
... expression between sexes. Strategies to determine sexual fate and to compensate X-chromosome dosage between sexes have evolved independently: mammals, flies, and worms use fundamentally different methods. Therefore, understanding the evolution of dosage compensation requires comparisons over shorter ...
Phytoalexin-Deficient Mutants of Arabidopsis Reveal That
... phytoalexin deficiency was observed, demonstrating that the candidate plants were indeed padl-1 pad2-1 double mutants. CmEncction ofpadl-1 pad3-1: We predicted that the phenotypes of the padl-l pad3-l double mutantwould include p a d l 1 leaf morphology and undetectable camalexin levels. The F2 prog ...
... phytoalexin deficiency was observed, demonstrating that the candidate plants were indeed padl-1 pad2-1 double mutants. CmEncction ofpadl-1 pad3-1: We predicted that the phenotypes of the padl-l pad3-l double mutantwould include p a d l 1 leaf morphology and undetectable camalexin levels. The F2 prog ...
controlling flowering time and plant height in
... et a!. (1993). However, in many cases the traits vary quantitatively suggesting that they are controlled by many genes. Molecular marker maps, usually based on RFLPs, have been widely used to map quantitative trait loci ...
... et a!. (1993). However, in many cases the traits vary quantitatively suggesting that they are controlled by many genes. Molecular marker maps, usually based on RFLPs, have been widely used to map quantitative trait loci ...
Gene Section USF1 (upstream transcription factor 1) Atlas of Genetics and Cytogenetics
... complex factors, coactivator and corepressor proteins (Corre and Galibert, 2005; Huang et al., 2007; Corre et al., 2009; Wong et al., 2009). In addition, USF1 interacts with other transcription factors to achieve cooperative transcriptional activation of individual genes (Corre and Galibert, 2005). ...
... complex factors, coactivator and corepressor proteins (Corre and Galibert, 2005; Huang et al., 2007; Corre et al., 2009; Wong et al., 2009). In addition, USF1 interacts with other transcription factors to achieve cooperative transcriptional activation of individual genes (Corre and Galibert, 2005). ...
Respiratory terminal oxidases in the facultative chemoheterotrophic
... microns, Sigma-Aldrich) for 4 min. Two-step RT-PCR was performed using the enhanced avian RT-PCR kit (SigmaAldrich). Total RNA was denatured together with the specific primer for 10 min at 85 8C and the reverse transcriptase reaction was performed for 40 min at 48 8C followed by 20 min at 60 8C. PCR ...
... microns, Sigma-Aldrich) for 4 min. Two-step RT-PCR was performed using the enhanced avian RT-PCR kit (SigmaAldrich). Total RNA was denatured together with the specific primer for 10 min at 85 8C and the reverse transcriptase reaction was performed for 40 min at 48 8C followed by 20 min at 60 8C. PCR ...
Analysis of similarity of the S1 gene in infectious bronchitis virus (IBV
... egg and mortality rate gradually grew. In the third passage, the presence of pathological changes on embryos which were similar to those of IB could be observed. The gross lesions of the infected embryos were haemorrhages on the legs, mottled necrosis of the liver, swelling of the kidneys, dwarfing ...
... egg and mortality rate gradually grew. In the third passage, the presence of pathological changes on embryos which were similar to those of IB could be observed. The gross lesions of the infected embryos were haemorrhages on the legs, mottled necrosis of the liver, swelling of the kidneys, dwarfing ...
Multiple Endocrine Neoplasia Type 1 and Lipomas
... Vortmeyer and colleagues32 extracted DNA of 2 lipoma patients with known MEN 1 gene germline mutation and compared it with normal cellular DNA. In the DNA of both patients, the authors revealed loss of the MEN 1 allele, confirming their findings by fluorescence in situ hybridization (FISH) analysis. ...
... Vortmeyer and colleagues32 extracted DNA of 2 lipoma patients with known MEN 1 gene germline mutation and compared it with normal cellular DNA. In the DNA of both patients, the authors revealed loss of the MEN 1 allele, confirming their findings by fluorescence in situ hybridization (FISH) analysis. ...
Genetics of Primary ciliary dyskinesia - HAL
... exons. So far, DNAH5 mutations have been found only in patients with partial or total loss of ODA associated or not with left-right asymmetry anomalies 34, 35. The DNAH5 mutation detection rate was shown to reach 49% in a subset of PCD families with documented ODA defects 35. A third candidate gene ...
... exons. So far, DNAH5 mutations have been found only in patients with partial or total loss of ODA associated or not with left-right asymmetry anomalies 34, 35. The DNAH5 mutation detection rate was shown to reach 49% in a subset of PCD families with documented ODA defects 35. A third candidate gene ...
The Genome of a Mongolian Individual Reveals
... genome, we first aligned selected high-quality short reads onto the human reference genome by using the Burrows–Wheeler Aligner program (BWA, v 0.6.2) (Li and Durbin, 2009). We then adopted a multialgorithm supporting strategy (fig. 1B) to identify the high confidence SNPs and short indels. Based on ...
... genome, we first aligned selected high-quality short reads onto the human reference genome by using the Burrows–Wheeler Aligner program (BWA, v 0.6.2) (Li and Durbin, 2009). We then adopted a multialgorithm supporting strategy (fig. 1B) to identify the high confidence SNPs and short indels. Based on ...
Inquiry into Life Twelfth Edition
... • Attenuation operates in the E. coli trp operon as long as tryptophan is plentiful • If amino acid supply low, ribosomes stall at the tandem tryptophan codons in the trp leader • trp leader being synthesized as stalling occurs, stalled ribosome will influence the way RNA folds – Prevents formation ...
... • Attenuation operates in the E. coli trp operon as long as tryptophan is plentiful • If amino acid supply low, ribosomes stall at the tandem tryptophan codons in the trp leader • trp leader being synthesized as stalling occurs, stalled ribosome will influence the way RNA folds – Prevents formation ...
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.