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Epsilon sarcoglycan gene and the molecular basis of myoclonuys dystonia syndrome

Epsilon sarcoglycan gene and the molecular basis of myoclonuys dystonia syndrome

Epsilon sarcoglycan gene and the molecular basis of myoclonuys dystonia syndrome

... with the PCR products of the deletions and another round of PCR was performed using P14 and the respective primers P16, 17 and 18 to obtain the final constructs as shown in Figure The sequences of ... template These PCR products were then gel purified To fuse the Igκ and FLAG to the N-terminal of εSG, the PCR product containing the Igκ , FLAG and a small portion of ε-SG ECD was mixed together ... the brain (Shiga K et al 2006) The sarcoglycans are part of the dystrophin glycoprotein complex (DGC) They are known to stabilize the DGC (Hack A.A et al 2000) The molecular architecture of the...
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Báo cáo y học:

Báo cáo y học: "The molecular basis of lung cancer: molecular abnormalities and therapeutic implications" potx

... accumulation of mutations, loss of apoptotic control and regulation of cell proliferation, and the appearance of aneusomy are associated with worsening dysplasia phenotypes and may reflect underlying dysregulation ... characterized by genetic abnormalities, phenotypic changes and clonal overgrowth throughout the lungs [60] Measures of genomic instability follow rates of loss of heterozygosity [39] and accumulation of ... to years before the diagnosis of cancer [86] Acetylation The dynamics of chromatin formation suggest that the association of DNA methylation and histone deacetylation may cause silencing of hypermethylated...
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Investigating the molecular basis of siah1 and siah2 e3 ubiquitin ligase substrate specificity

Investigating the molecular basis of siah1 and siah2 e3 ubiquitin ligase substrate specificity

... Molecular Basis of Siah2 Substrate Specificity Given the different roles of Siah1 and Siah2 in cancer and their different cellular functions, it is important to understand the structural basis ... Furthermore, it was found that the amounts of PHD3 bound to full length Siah2 and the SBD of Siah2 were similar The comparable binding of PHD3 to full length and SBD of Siah2 suggests that the substrate ... forms of Siah1 and Siah2 SBD The SBD of Siah1 and Siah2 comprises of residues 90-282 (193 aa) and 130-322 (193 aa), respectively To avoid confusion, residue numbers for both the Siah1 and Siah2...
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Báo cáo khoa học: The molecular basis of heme oxygenase deficiency in the pcd1 mutant of pea pot

Báo cáo khoa học: The molecular basis of heme oxygenase deficiency in the pcd1 mutant of pea pot

... cDNA sequences of PsHO1 indicating the location of intron-exon boundaries The position of the mutation in pcd1 causing premature chain termination is indicated Numbers refer to the first and last ... seedlings This band was completely absent in pcd1 seedlings consistent with the presence of the premature translation termination codon in the mutant gene The pcd2 mutant of pea is deficient in ... plots Modelling the structure of PsHO1 A three-dimensional model of the structure of pea HO was produced on the basis of the alignment of its amino acid sequence (minus the N-terminal transit...
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THE MOLECULAR BASIS OF PLANT GENETIC DIVERSITY pdf

THE MOLECULAR BASIS OF PLANT GENETIC DIVERSITY pdf

... X Preface The purpose of The Molecular Basis of Plant Genetic Diversity is to provide a glimpse into the dynamic process of genetic variation by presenting the thoughts of some of the scientists ... conservationists 24 The Molecular Basis of Plant Genetic Diversity and others interested in quantifying diversity have often come from ecological backgrounds, the phylogenetic structure of genetic variation ... by the markers rather than describing the genetic diversity of the organism Although the results correlate with genetic diversity, the indices often have no biological meaning in a population genetic...
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Báo cáo sinh học:

Báo cáo sinh học: "X-chromosome inactivation: the molecular basis of silencing" ppt

... Tsix The role of DNA methylation Figure Transcription of Xist and Tsix on the X chromosome The coding sequences of Xist and Tsix overlap on opposite strands of the X-chromosome DNA effect: the ... initiated A second cause of non-random X-chromosome inactivation is the selective death of cells that inactivate the incorrect number of X chromosomes: because the fates of the X chromosomes are ... transcriptional silencing [15] These epigenetic marks also characterize the XI, and their recruitment to the XI requires transcription of Xist [16-18] Together, these results suggest that the increase in Xist...
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Báo cáo khoa hoc:

Báo cáo khoa hoc:" Statistical methods and the subjective basis of scientific knowledge" pps

... because the history of scientific theories is the history of the abandonment of old hypotheses and of the keeping of the newly formulated ones For example, when a law f (x, B) derived from theoretical ... manner of contrasting the hypotheses r and the conclusion about the value of r is subjective the rules =- r ; - OPTIMUM ESTIMATION We shall now examine another aspect of the question of the rule of ... posing the rule of the most probable value: choose the hypothesis i B having the largest posterior probability, with the risk of error given by the sum of the probabilities of the hypotheses...
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Báo cáo y học:

Báo cáo y học: "Application of the comprehensive set of heterozygous yeast deletion mutants to elucidate the molecular basis of cellular chromium toxicity" potx

... Size of growth effect Figure of Analysis the global effects of Cr treatment on the heterozygous mutants Analysis of the global effects of Cr treatment on the heterozygous mutants The plot shows the ... protein may contribute to the intrinsic resistance of the cell to the toxic action of the metal Over-representation of specific Gene Ontology terms in the annotations of genes found in the haploinsufficiency ... heterozygosities can underlie human genetic diseases [20] The proof -of- principle of competition analyses employing the heterozygous yeast deletion mutants involved confirmation or identification of...
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Báo cáo y học:

Báo cáo y học: "Molecular basis of telaprevir resistance due to V36 and T54 mutations in the NS3-4A protease of the hepatitis C virus" pdf

... placed towards the hydrophobic cavity in the ligand binding pocket, similar to the placement of the cyclopropyl group of CPX in 1RTL The cyclopropyl group is buried in the surface cavity and faces ... towards a hydrophobic cavity in the binding pocket of the HCV protease NS3-4A The cyclopropyl binding mode and the geometry of the cavity appear to play an essential role in the development of ... side chains are oriented towards the protein center and away from the ligand-binding pocket; and one C atom in the side chain of the mutant residues and a second C atom of the wild-type V36 point...
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Tài liệu Báo cáo khoa học: Basis of recognition between the NarJ chaperone and the N-terminus of the NarG subunit from Escherichia coli nitrate reductase pdf

Tài liệu Báo cáo khoa học: Basis of recognition between the NarJ chaperone and the N-terminus of the NarG subunit from Escherichia coli nitrate reductase pdf

... 100-fold and the lifespan of the complex by 10-fold, as judged by koff The physiological chaperone cycle probably consists of the rapid binding of the N-terminus of the partner, regardless of whether ... NaCl The values presented are the average of at least three independent experiments Complex NarJ NarG( 1–28) NarJT NarG( 1–28) NarJ NarG( 1–15) NarJT NarG( 1–15) NarJT NarG( 1–15) (At pH 8.0) NarJ NarG( 1–15) ... NarH and NarI subunits [4] Here we addressed the question of the structure adopted by the N-terminus of NarG during the recognition process At first, we synthesized two peptides [NarG( 1–15) and NarG( 1–28)]...
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Tài liệu Báo cáo khoa học: Analysis of the molecular dynamics of medaka nuage proteins by fluorescence correlation spectroscopy and fluorescence recovery after photobleaching doc

Tài liệu Báo cáo khoa học: Analysis of the molecular dynamics of medaka nuage proteins by fluorescence correlation spectroscopy and fluorescence recovery after photobleaching doc

... measure the mobility of the components in the PGCs The medaka embryo was peeled off the chorion, and the segment containing the part of PGCs was excised for observation by microscopy and FCS ... dynamic nature of the nuage Schematic diagram of the preparation of PGCs of medaka specimen (A) OlvasGFP was expressed in the medaka PGC at stage 24 and localized in the nuage 3D imaging of Olvas GFP ... and FRAP analyses of OlvasGFP in the PGC FCS was used to measure the movement of OlvasGFP into the cytosol out of the nuage region of the PGC Representative correlation curves are shown (A) The...
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Báo cáo khoa học: Molecular basis of perinatal hypophosphatasia with tissue-nonspecific alkaline phosphatase bearing a conservative replacement of valine by alanine at position 406 Structural importance of the crown domain potx

Báo cáo khoa học: Molecular basis of perinatal hypophosphatasia with tissue-nonspecific alkaline phosphatase bearing a conservative replacement of valine by alanine at position 406 Structural importance of the crown domain potx

... hypophosphatasia, (b) infantile hypophosphatasia, (c) childhood hypophosphatasia, (d) adult hypophosphatasia and (e) odonto hypophosphatasia [1–4] Perinatal and infantile forms of hypophosphatasia are ... Molecular basis of perinatal form of hypophosphatasia N Numa et al Hypophosphatasia is caused by various mutations of the tissue-nonspecific alkaline phosphatase (TNSALP) gene (EC ... Replacement of valine at position of 406 with alanine was reported in a patient diagnosed with perinatal hypophosphatasia who was a compound heterozygote for this mutation and A9 9T [20] The valine...
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Báo cáo khoa học: Transthyretin and familial amyloidotic polyneuropathy Recent progress in understanding the molecular mechanism of neurodegeneration pdf

Báo cáo khoa học: Transthyretin and familial amyloidotic polyneuropathy Recent progress in understanding the molecular mechanism of neurodegeneration pdf

... b-strands instead of eight, with the C and D strands and the intervening loop forming a large loop, exposing some hydrophobic residues in this region that are normally buried on the inside of the ... the protein [98] Dislocation of the C and D strands from their native edge region may result in the formation of a new interface involving A and B strands which is open for intermolecular interactions ... hydrophobic interactions between the A–B loop of one monomer and the ˚ H strand of the opposite dimer, creating a 50 A central channel that contains the two binding sites for thyroxine [81] The four binding...
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