presenilin amp 947 secretase connection ad causing mutations and knockout mice
Báo cáo khoa học: Functional analysis of disease-causing mutations in human galactokinase potx
... heterozygous for this and a frameshift mutation [16] The patient had low blood galactokinase activity and had been placed on a low galactose diet and so no other symptoms had been observed A single ... (Stratagene) and the isolation of single colonies, plasmids were purified and the GALK1 coding region sequenced in full to confirm the presence of the mutation and that no other mutations had been introduced ... Disease -causing mutations in human galactokinase (Eur J Biochem 270) 1771 additional band of the expected molecular mass on SDS/ PAGE of cell extracts after induction), five (P28T, V32M, G36R, T288M and...
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Báo cáo Y học: Effect of the disease-causing mutations identified in human ribonuclease (RNase) H2 on the activities and stabilities of yeast RNase H2 and archaeal RNase HII pot
... corresponding mutations (Leu60 fi Arg in Hs-RNASEH2B and Arg69 fi Trp in Hs-RNASEH2C) are not the only disease -causing mutations identified in these subunits Thirteen single disease -causing mutations ... proteins to analyze the effect Mutations of yeast RNase H2 and archaeal RNase HII of a disease -causing mutation on the activity, stability, and structure of human RNase H2 and the role of the glycine ... amplified by PCR using primer combinations RNH2A-F and RNH2A-R, RNH2B-F and RNH2BR, and RNH2C-F and RNH2C-R, respectively Plasmids pVANPH2, pET279, and pAC154-2 were used as a template The sequences...
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Báo cáo khoa học: Functional analysis of disease-causing mutations in human UDP-galactose 4-epimerase pot
... expressed in, and purified from, Escherichia coli, and their steadystate kinetic parameters, ability to dimerize and susceptibility to proteolytic digestion have been compared Disease -causing mutations ... clusters of disease -causing mutations (N34S ⁄ G90E ⁄ D103G and K257R ⁄ L313M ⁄ G319E) suggests that these two parts of the protein are sensitive to changes and that further mutations may be found ... Error bars represent the standard deviation of these mean values Table Kinetic constants of human UDP-galactose 4-epimerase (GALE) and the consequences of disease -causing mutations Values were determined...
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Báo cáo sinh học: "Pitfalls in the phylogenomic evaluation of human disease-causing mutations" potx
... through the proband’s family and ask what proportion of heterozygotes was affected However, few such cascaded family studies have been undertaken Where they have been performed (for example, in the ... http://jbiol.com/content/8/3/26 and between categories, and the most consistently high set of scores concern a sequence change, G16D, that was observed in controls [8] rather than CL/P samples (Figure 1a, black arrowhead) ... Satokata I, Maas R: Msx1 deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth development Nat Genet 1994, 6:348-356 van den Boogaard MJ, Dorland M, Beemer FA, van Amstel...
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Báo cáo khoa học: BRCA1 16 years later: risk-associated BRCA1 mutations and their functional implications pptx
... insertions and deletions, splice altering mutations, mutations in the untranslated regions, as well as silent mutations The majority of risk-associated mutations are frameshift or nonsense mutations ... hyperproliferation and enhanced lobule formation in the mammary gland In addition, tumorigenesis and death were accelerated in mice expressing the splice variant In separate studies, Quaresima and colleagues ... proteins are warranted, and will provide a better understanding of mutation-associated breast and ovarian cancer and improve the strength of prognosis and efficacy of prophylaxis and treatment for mutation...
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Báo cáo khoa học: Functional and structural characterization of novel mutations and genotype–phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy docx
... nonsense mutations (13%) and three were at splicing sites (9%) Two mutations had a frequency > 15% (i.e p.R261Q and c.1066-11G>A; cumulative frequency = 35.3%); four mutations had a frequency in the ... Southern Italy In addition to the molecular epidemiology of PAH mutations, we characterized the functional properties of two novel mutations to investigate their disease -causing nature and tested BH4 ... leads to brain damage and mental retardation and epilepsy, as well as other neurological abnormalities [3] The severity of PAH deciency is variable and partly depends on the nature of the mutations...
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Novel technique for rapid detection of a-globin gene mutations and deletions pot
... deletions and mutations, which causes a-thalassemia in southern China and Southeast Asia Liu et al 151 Fig DHPLC profiles for the duplex PCR products of samples at 63.8 C Four had mutations and did ... genotypes at 63.8 C aa/aa had no mutated samples; thus, only peak appeared at 4.8 (samples and 6) Homoduplex double peaks were found at 4.7–4.8 in the CS/aa sample, and heteroduplex double peaks ... 110 DNA samples A total of 110 DNA samples with various a-thalassemia causing deletions and mutations identified by gap-PCRs as well as the DC analysis were compared to test the specificity and sensitivity...
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Báo cáo hóa học: " Incidence of the V600K mutation among melanoma patients with BRAF mutations, and potential therapeutic response to the specific BRAF inhibitor PLX4032" potx
... signaling pathway, causing cell detachment and motility in metastatic melanoma cells and enhancing cell proliferation in primary melanomas carrying NRAS Q61L mutations These paradoxical effects ... trial may not discriminate between the V600E and V600K mutations Our preclinical data demonstrating similar kinase activity of the V600K and V600E mutations, together with clear evidence of clinical ... Mueller-Berghaus J, Rittgen W, Hemminki K, Becker J, Kumar R, Schadendorf D: B-RAF and NRAS mutations are preserved during short time in vitro propagation and differentially impact prognosis PLoS One 2007,...
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Báo cáo sinh học: "Correlation between LTR point mutations and proviral load levels among Human T cell Lymphotropic Virus type 1 (HTLV-1) asymptomatic carriers" potx
... the A184G mutations Therefore, additional experimental supports are needed to rule out the potential importance of the A184G mutations and functional connection between A184G and G232A mutations ... Therefore, longitudinal study designs are required to address these issues and also to determine if the G232A mutations was already present in patients with advanced disease before they were diagnosed ... constraints, 31 of the 182 genomic DNA samples from subjects with low PvL and 34 of the 45 genomic DNA samples from subjects with a high PvL were randomly selected and their HTLV-1 LTR was successfully...
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Báo cáo hóa học: " Research Article A Markovian Model Representation of Individual Mobility Scenarios in Ad Hoc Networks and Its Evaluation" ppt
... routing overhead leads to the packet discard, harming the throughput and the discovery and the updating of the routes Furthermore, the overhead affects the battery energy consumption and with a greater ... A V Campos and L F M de Moraes 500 For this model, the absolute value of the velocity variation is given by a truncated geometric random variable distributed between and be−1 , where b > and b ... proposed modeling is more adequate than the RWP model Moreover, the mobility profiles and border rules were in- [1] T Camp, J Boleng, and V Davies, “A survey of mobility models for ad hoc network research,”...
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Báo cáo hóa học: " On the Geometrical Characteristics of Three-Dimensional Wireless Ad Hoc Networks and Their Applications" pptx
... given covering radius, and it also determines the characteristics of the whole network, such as the network topology and the max-flow capacity Moreover, in their landmark paper, Gupta and Kumar [4] ... connectivity and also influences global properties For networks in the infinite two-dimensional region, based on the inverse power law model of attenuation with lognormal shadowing fading, Orriss and Barton ... comprehends the special case of random graph model above, which does not allow random shadowing Verdone [7] extended the discussion to the infinite threedimensional space and got the same conclusion...
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Tài liệu tiếng anh tham khảo factors causing stress and impact on job performance
... faces confusion and conflict between demands, responsibilities or opportunities and desired work outcomes of these and feels that these important and necessary outcomes are not clear and productive ... occurs due to the inability of workers to meet and cope with uncertain and pressurized work demands which results in unwanted and adverse physical and emotional reactions Barling et al (2004, as ... understand manager’s words and orders then it adds to their performance positively and manger will not face any stress or feel worry about the work and productivity But on the other hand if the...
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Báo cáo khoa học: "A Gartner duct cyst of the vagina causing dysuria and dyschezia in a Yorkshire Terrier" pps
... pyometra, a uterine tumor or a double bladder because of the anatomical location adjacent to the uterus and bladder An accurate diagnosis can be obtained by radiography and ultrasonography in order to ... was a cyst (long arrows) different form urinary bladder (UB) and uterus (short arrows) A B Fig (A) Cyst was located caudal to urinary bladder (UB) and uterus (U) The cyst attached outer wall of ... G, El Ghoneimi A, Sebag G Gartner's cyst communicating with the bladder and vagina with associated complete vaginal diaphragm J Radiol 2005, 86, 170-172 Sheih CP, Li YW, Liao YJ, Huang TS, Kao...
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Báo cáo y học: "A possible connection between psychosomatic symptoms and daily rhythmicity in growth hormone secretion in healthy Japanese students" potx
... Journal of Circadian Rhythms 2009, 7:10 following of chewing Samples were collected five times a day at home (20:00, 24:00, 04:00, 08:00, and 12:00 h) Both the day of sampling and the preceding ... managed the laboratory and adjusted the schedule of subjects SW participated in the design of the study and performed statistical analysis MN supervised the study All authors read and approved the ... students (4 men and 11 women) The amplitude of salivary growth hormone, defined as the difference between the highest and lowest salivary concentrations, was used to produce a standardisation,...
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báo cáo khoa học: "Journal of Hematology & Oncology BioMed Central Short report Open Access Detection of NPM1 exon 12 mutations and FLT3 – internal tandem duplications by high resolution melting analysis in normal karyotype acute myeloid leukemia" docx
... Y572C Samples with a FLT3-ITD C E C Samples with a NPM1 bp insertion Sample with FLT3 Y572C Samples with a FLT3-ITD Normal controls and negative samples Normal controls and negative samples Normal ... 15 (34%) had secondary AML Sixteen patients generated an abnormal melting Normal controls and negative samples Normal controls and negative samples Samples with a NPM1 bp insertion A Sample with ... controls and negative samples B Normal controls and negative samples D F Figure Detection of NPM1 mutations and FLT3-ITD using high resolution melting analysis (A) The melt curve of NPM1 exon 12 and...
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báo cáo khoa học: "P-loop mutations and novel therapeutic approaches for imatinib failures in chronic myeloid leukemia" pps
... 6.3 months for T315I mutations, 10.8 months for M351T mutations, 2.9 months for A-loop mutations and 8.7 months for other mutations [22] Additionally, of the patients with mutations that were ... P-loop mutations treated with imatinib alone experienced reduced response and survival rates [12,13,20] For example, Brandford et al found that in patients with CP and AP CML, P-loop mutations ... with AP CML and 75% of those with BP CML had mutations, compared with only 27% of patients in CP [15] They also noticed a preferential association of P-loop and T315I mutations with advanced phase...
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Báo cáo y học: "Paget''''s disease of the skull causing hyperprolactinemia and erectile dysfunction: a case report" potx
... sphenoid surrounding the pituitary gland The pituitary gland appeared normal on sagittal and coronal reconstructions therefore, the patient underwent a radio-isotope bone scan This revealed increased ... mellitus and peripheral vascular disease The prevalence of erectile dysfunction increases with advancing age, and this is in part due to declining levels of Luteinizing Hormone (LH) and Follicle ... dysfunction in men and is most often caused by a microprolactinoma of the pituitary gland Symptoms may also include diminished libido, infertility and more rarely, reduction in facial and body hair,...
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Understanding how mutations and stress factors contribute to parkin dysfunction implications for parkinsons disease
... Parkin mutations 1.7.2 Parkin gene organization and regulation 30 1.7.6 Parkin and mitochondrial function 38 1.7.7 Parkin and neurodegeneration 40 Rationale & objectives 41 Materials and methods ... normal and (B) Parkinson’s disease individuals UPS and PD Point mutation and exon deletion, duplication and triplication of parkin 3.1 15 26 Biochemical distribution of wild-type parkin and various ... levodopa and dopamine and hence enhance the effect of a given levodopa dose COMT is currently also being used as an adjunctive therapy to the standard combination for some PD patients In addition...
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Tài liệu Báo cáo khoa học: The localization of FGFR3 mutations causing thanatophoric dysplasia type I differentially affects phosphorylation, processing and ubiquitylation of the receptor pptx
... [21] In this study, four FGFR3 mutations causing TDI and affecting the extracellular or intracellular domains of the receptor were generated and used for biochemical and immunocytochemical studies ... wild-type and Results TDI mutations differentially affect receptor processing A series of four mutants (R248C, Y373C, K650M and X807R) reproducing mutations identified in TDI patients and located ... confirm that the 130 and 115 kDa bands (or 144 and 129 kDa bands in the X807R mutant) corresponded to differently glycosylated forms of the receptor, immunoprecipitated wild-type and mutant receptors...
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