Array-based sequencing of filaggrin gene for
... successfully amplified. These 92 were again sized with Bioanalyser (Figure 1D), before sequencing on the Illumina MiSeq using 2 x 250 bp mode (see Methods). Importantly, primer dimer contaminants that could potentially interfere with downstream sequencing were removed from the final amplicon pool us ...
... successfully amplified. These 92 were again sized with Bioanalyser (Figure 1D), before sequencing on the Illumina MiSeq using 2 x 250 bp mode (see Methods). Importantly, primer dimer contaminants that could potentially interfere with downstream sequencing were removed from the final amplicon pool us ...
Analysis of large and small colony L5178Y tk−/− mouse lymphoma
... idiogram is shown aligned with the linkage map for orientation, although the correlation of physical and genetic maps in mouse is inexact. The number of large and small colony mutants in each LOH category examined are shown arrayed along chromosome 11 to provide an illustration of the distribution o ...
... idiogram is shown aligned with the linkage map for orientation, although the correlation of physical and genetic maps in mouse is inexact. The number of large and small colony mutants in each LOH category examined are shown arrayed along chromosome 11 to provide an illustration of the distribution o ...
here - Glaucoma Genetics Lab
... pedigree from a village in southern India and to investigate the genetic basis of their disease. Materials and methods: Eighty-four members of a large pedigree received complete eye examinations including slit lamp examination, tonometry, gonioscopy, and ophthalmoscopy. Some were further studied wit ...
... pedigree from a village in southern India and to investigate the genetic basis of their disease. Materials and methods: Eighty-four members of a large pedigree received complete eye examinations including slit lamp examination, tonometry, gonioscopy, and ophthalmoscopy. Some were further studied wit ...
Maintenance of genomic integrity by p53: complementary
... possibility. Last but not least, a possible role of p53 in the control of genomic integrity in its non-induced state, i.e., in the absence of signals indicating DNA damage or other potentially harmful conditions, so far has not yet been considered at all. In contrast, the general assumption is that ...
... possibility. Last but not least, a possible role of p53 in the control of genomic integrity in its non-induced state, i.e., in the absence of signals indicating DNA damage or other potentially harmful conditions, so far has not yet been considered at all. In contrast, the general assumption is that ...
Review of the p53 Tumor Suppressor Gene and its Role in Gliomas
... evolve through genetic recombination such that a mutated version of a cellular proto-oncogene is integrated into a ...
... evolve through genetic recombination such that a mutated version of a cellular proto-oncogene is integrated into a ...
hermann joseph muller 1890—1967
... hoped to join the faculty there but Wilson felt it would not work out if Morgan came back, which he did for a few years before leaving to head and develop the new Department of Biology at California Institute of Technology. While at Columbia (1919-1921), Muller published several theoretical papers t ...
... hoped to join the faculty there but Wilson felt it would not work out if Morgan came back, which he did for a few years before leaving to head and develop the new Department of Biology at California Institute of Technology. While at Columbia (1919-1921), Muller published several theoretical papers t ...
Hermann Joseph Muller - National Academy of Sciences
... hoped to join the faculty there but Wilson felt it would not work out if Morgan came back, which he did for a few years before leaving to head and develop the new Department of Biology at California Institute of Technology. While at Columbia (1919-1921), Muller published several theoretical papers t ...
... hoped to join the faculty there but Wilson felt it would not work out if Morgan came back, which he did for a few years before leaving to head and develop the new Department of Biology at California Institute of Technology. While at Columbia (1919-1921), Muller published several theoretical papers t ...
Document
... Imegen is a leading designer and manufacturer of kits for clinical genetic testing based on a wide range of molecular technologies. Our portfolio currently includes more than 100 references for kits based on Sanger and NGS sequencing technologies, digital PCR, and real time PCR. Since 1998, we have ...
... Imegen is a leading designer and manufacturer of kits for clinical genetic testing based on a wide range of molecular technologies. Our portfolio currently includes more than 100 references for kits based on Sanger and NGS sequencing technologies, digital PCR, and real time PCR. Since 1998, we have ...
Mutation - Cftrscience
... from 1993 to 2002. Patients were grouped as having a high-risk or low-risk genotype based on the functional effects of their class of CFTR mutation on phenotype and mortality. Patients having a Class I, II, or III mutation on both alleles were considered high-risk, while patients having at least 1 C ...
... from 1993 to 2002. Patients were grouped as having a high-risk or low-risk genotype based on the functional effects of their class of CFTR mutation on phenotype and mortality. Patients having a Class I, II, or III mutation on both alleles were considered high-risk, while patients having at least 1 C ...
American Thoracic Society Documents
... CCHS. Over 90% of CCHS cases will be heterozygous for an inframe PARM coding for 24 to 33 alanines in the mutated protein and producing genotypes of 20/24 to 20/33 (the normal genotype would be referred to as 20/20). The remaining approximately 10% of patients with a classical CCHS phenotype will be ...
... CCHS. Over 90% of CCHS cases will be heterozygous for an inframe PARM coding for 24 to 33 alanines in the mutated protein and producing genotypes of 20/24 to 20/33 (the normal genotype would be referred to as 20/20). The remaining approximately 10% of patients with a classical CCHS phenotype will be ...
Charge Transport in DNA - Insights from
... certain critical stretching rate, whereas a transition to S-DNA was observed above this threshold.[29] Further, DNA is observed more stable with 3’–3’ pulling than with 5’–5’, and it was pointed out that the relevant structures are different.[30] Two distinct overstretched DNA states were shown yet ...
... certain critical stretching rate, whereas a transition to S-DNA was observed above this threshold.[29] Further, DNA is observed more stable with 3’–3’ pulling than with 5’–5’, and it was pointed out that the relevant structures are different.[30] Two distinct overstretched DNA states were shown yet ...
Hereditary ataxias: overview
... Korea and SCA3 is much more common in Japan and Germany than in the United Kingdom.23–25 SCA3 was originally described in Portuguese families from the Azores and called MachadoJoseph disease. DRPLA is rare in North America and common in Japan. A recent study found evidence of frequency variation bet ...
... Korea and SCA3 is much more common in Japan and Germany than in the United Kingdom.23–25 SCA3 was originally described in Portuguese families from the Azores and called MachadoJoseph disease. DRPLA is rare in North America and common in Japan. A recent study found evidence of frequency variation bet ...
Lecture PPT - Carol Lee Lab
... during polyploidization, which leads to both the activation and suppression of gene expression… sometimes this leads to nonadditive changes in gene expression, some of which could be deleterious ...
... during polyploidization, which leads to both the activation and suppression of gene expression… sometimes this leads to nonadditive changes in gene expression, some of which could be deleterious ...
Could distal MSH2 upstream deletions cause HNPCC?
... The primer set for MSH2P4 is 10 kb upstream of MSH2 ...
... The primer set for MSH2P4 is 10 kb upstream of MSH2 ...
hemipterous Encodes a Novel Drosophila MAP
... 1 B), suggesting that DC is abnormal (see below). In addition to a maternal effect, hep’ causes poorly penetrant (- 3%) but strikingly unilateral deletions of adult structures such as wing (hence the name of the gene), dorsal mesothorax, eye, or metathoracic leg (data not shown). P element excisions ...
... 1 B), suggesting that DC is abnormal (see below). In addition to a maternal effect, hep’ causes poorly penetrant (- 3%) but strikingly unilateral deletions of adult structures such as wing (hence the name of the gene), dorsal mesothorax, eye, or metathoracic leg (data not shown). P element excisions ...
PPT
... Survey multiple Han Chinese in Beijing: >93% Ala. Survey multiple Japanese in Tokyo: >93% Ala. Survey multiple Yoruba in Ibadan, Nigeria: >93% Ala. ...
... Survey multiple Han Chinese in Beijing: >93% Ala. Survey multiple Japanese in Tokyo: >93% Ala. Survey multiple Yoruba in Ibadan, Nigeria: >93% Ala. ...
Inference of homologous recombination in bacteria using whole
... in this example, with false-positive recombination intensity being limited to two types. Firstly, the edge of recombination region is sometimes imperfectly found (e.g. on branch 1 around 5200bp), and secondly the origin may be incorrect (e.g. parent of branch 2 and 8, 100bp). In both of these cases ...
... in this example, with false-positive recombination intensity being limited to two types. Firstly, the edge of recombination region is sometimes imperfectly found (e.g. on branch 1 around 5200bp), and secondly the origin may be incorrect (e.g. parent of branch 2 and 8, 100bp). In both of these cases ...
CHARACTERIZATION OF THE HETEROKARYOTIC AND
... auxotrophs with phenotypes identical to one or the other of the parents. M. grisea heterokaryons thus resemble those of other fungi that have completely septate hyphae with a single nucleus per cell. Heterokaryons have been utilized for complementation and dominance testing of mutations that affect ...
... auxotrophs with phenotypes identical to one or the other of the parents. M. grisea heterokaryons thus resemble those of other fungi that have completely septate hyphae with a single nucleus per cell. Heterokaryons have been utilized for complementation and dominance testing of mutations that affect ...
Functional features of RUNX1 mutants in acute
... RUNX1 and CBF are among the most frequent targets in leukemia through chromosomal translocations or gene mutations.10,11 With regard to the RUNX1 gene, different chromosomal translocations have been reported in human acute leukemias such as t(8;21)(q22;q22) generating the RUNX1-ETO fusion gene, t(1 ...
... RUNX1 and CBF are among the most frequent targets in leukemia through chromosomal translocations or gene mutations.10,11 With regard to the RUNX1 gene, different chromosomal translocations have been reported in human acute leukemias such as t(8;21)(q22;q22) generating the RUNX1-ETO fusion gene, t(1 ...
What is p53
... the term "p53" appears in the title! This massive interest in a single protein is almost unprecedented and reflects the central place of p53 in the regulation of cell number and the frequency with which abnormalities of p53 occur in human tumours. p53 has been named Molecule of the Year by the edito ...
... the term "p53" appears in the title! This massive interest in a single protein is almost unprecedented and reflects the central place of p53 in the regulation of cell number and the frequency with which abnormalities of p53 occur in human tumours. p53 has been named Molecule of the Year by the edito ...
Help Me Understand Genetics
... mutations are also called germline mutations because they are present in the parent’s egg or sperm cells, which are also called germ cells. When an egg and a sperm cell unite, the resulting fertilized egg cell receives DNA from both parents. If this DNA has a mutation, the child that grows from the ...
... mutations are also called germline mutations because they are present in the parent’s egg or sperm cells, which are also called germ cells. When an egg and a sperm cell unite, the resulting fertilized egg cell receives DNA from both parents. If this DNA has a mutation, the child that grows from the ...
Depolarization of the actin cytoskeleton is a specific phenotype in
... number of different genes cause similar phenotypes, even though the genes encode actin-binding proteins with very different biochemical functions. These phenotypes only differ in terms of severity; they do not include specific features as might be expected based on the diversity of the biochemical f ...
... number of different genes cause similar phenotypes, even though the genes encode actin-binding proteins with very different biochemical functions. These phenotypes only differ in terms of severity; they do not include specific features as might be expected based on the diversity of the biochemical f ...
Mutation
In biology, a mutation is a permanent change of the nucleotide sequence of the genome of an organism, virus, or extrachromosomal DNA or other genetic elements. Mutations result from damage to DNA which is not repaired or to RNA genomes (typically caused by radiation or chemical mutagens), errors in the process of replication, or from the insertion or deletion of segments of DNA by mobile genetic elements. Mutations may or may not produce discernible changes in the observable characteristics (phenotype) of an organism. Mutations play a part in both normal and abnormal biological processes including: evolution, cancer, and the development of the immune system, including junctional diversity.Mutation can result in several different types of change in sequences. Mutations in genes can either have no effect, alter the product of a gene, or prevent the gene from functioning properly or completely. Mutations can also occur in nongenic regions. One study on genetic variations between different species of Drosophila suggests that, if a mutation changes a protein produced by a gene, the result is likely to be harmful, with an estimated 70 percent of amino acid polymorphisms that have damaging effects, and the remainder being either neutral or weakly beneficial. Due to the damaging effects that mutations can have on genes, organisms have mechanisms such as DNA repair to prevent or correct mutations by reverting the mutated sequence back to its original state.