BRCA1 mutations in the family history clinic 2

... BRCA2 testing: weighing the demand against the benefits [editorial] Am J Hum Genet 1999, 64, 943-8 32 Foulkes WD BRCA1 and BRCA2: penetrating the clinical arena [commentary] Lancet 1998, 3 52, 1 325 -6 ... translation-terminating mutations Hum Mole Genet 1993, 2, 1719 -21 21 2 Hogervorst FBL, Cornelis RS, Bout M, et al Rapid detection of BRCA1 mutations by the protein truncation test Nat Genet 1995, 10, 20 8- 12 213 ... of in- situ cancer in BRCA1 and BRCA2 mutation carriers [letter] Lancet 1998, 351, 1487 1 02 Eisinger F, Nogues C, Guinebretiere JM, et al Novel indications for BRCA1 screening using individual clinical...

BRCA1 mutations in the family history clinic

... 10 BRCA1 families, Friedman et al79 reported that four families with both breast and ovarian cancers had chain terminating mutations occurring in the 5’ half of the BRCA1 gene In 10 BRCA1 mutations ... quantifiable inherited cancer risk An intriguing approach to interpreting these early findings has been to look for a 29 phenotype – genotype correlation, where mutations at certain points in the gene ... were obtained by Dorum et al28, who examined the penetrance of the Norwegian BRCA1 1675delA and 1135insA founder mutations, and Hopper et al29 in a study of protein truncating mutations in Australia...

Tài liệu Báo cáo khoa học: A genetic screen identifies mutations in the yeastWAR1 gene, linking transcription factor phosphorylation to weak-acid stress adaptation docx

... AGGTATGTTATTGCGTTATTTTG-3¢ 5¢-CAAAATAACGCAATAACATACCTCAT TTTGTAAAGAGAGTTGTTGAAG-3¢ 5¢-CCCTTCAACAACTCTCTTTACAAATTTTATGTTATTGCGTTATTTTGTC-3¢ 5¢-GACAAAATAACGCAATAACATAAAATTTGTAAAGAGAGTTGTTGAAGGG-3¢ This This ... K762Ns K762Nas F763Ms F763Mas R764Ds R764Das 5¢-CCCTTCAACAACTCTCTTTACAAC TTTAGGTATGTTATTGCG-3¢ 5¢-CGCAATAACATACCTAAAGTT GTAAAGAGAGTTGTTGAAGGG-3¢ 5¢-CTTCAACAACTCTCTTTACAAAATG AGGTATGTTATTGCGTTATTTTG-3¢ ... Mitchell A (1994) Methods in yeast genetics A Laboratory Course Manual Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY Yeast weak organic acid stress adaptation 36 Wach A, Brachat A, Alberti-Segui...

Tài liệu Báo cáo khóa học: Mutations in the hydrophobic core and in the protein–RNA interface affect the packing and stability of icosahedral viruses doc

... hydrophobic core (M88V) and the other in the protein–RNA interaction (T45S), decrease the stability of the capsid Our ﬁndings illuminate the role of packing in the icosahedral lattice of the virus ... middle of the central b-strand of the coat protein dimer and its side-chain projects into the protein’s interior (Figs 1B and 8) The two Met88 residues are in close proximity to one another at the ... with valine (C and D), the cavity volume increased to 43 A3, reﬂecting a reduction in the surface area of the residue (% 59 A2) and in the interactions occurring there (corresponding to the b-sheet)...

Tài liệu Báo cáo Y học: Mutations in the docking site for cytochrome c on the Paracoccus heme aa3 oxidase Electron entry and kinetic phases of the reaction pptx

... binding domains by chemical modification J Biol Chem 253, 149–159 Rieder, R & Bosshard, H.R (1980) Comparison of the binding sites on cytochrome c for cytochrome c oxidase, cytochrome bc1 and cytochrome ... Zhen, Y. , Hoganson, C. W., Babcock, G.T & Ferguson-Miller, S (1999) Definition of the interaction domain for cytochrome c on cytochrome c oxidase I Biochemical, spectral, and kinetic characterization ... (1998) Tryptophan 121 of subunit II is the electron entry site to cytochrome c oxidase in Paracoccus denitrificans – involvement of a hydrophobic patch in the docking reaction J Biol Chem 273,...

Báo cáo khoa học: C ﬁ G base mutations in the CArG box of c-fos serum response element alter its bending ﬂexibility Consequences for core-SRF recognition potx

... 5¢-d(GGATGTCCATATTA GGACAT)-3¢ reproduces the sequence of the SRF recognition element of the c- fos enhancer [2,27] The mutants SREGfos 5¢-d(GGATGTgCATATTAGGACAT)-3¢ and SREGGfos 5¢-d(GGATGTggATATTAGGACAT)-3¢ ... a restricted range of conformational space Thus, for the CArG box of SREGGfos, the rigid G) 4A)3 step inhibits (by mechanical locking) the local freedom brought about by the C) 4A)3 step in SREfos ... interactions of CArG boxes and accessory proteins [21,22] The core domain of the SRF (core-SRF) binds to the CArG box as a homodimer [7,23,24] The speci c core-SRF SREfos complex is characterized...

Báo cáo khoa học: Effect of mutations in the b5–b7 loop on the structure and properties of human small heat shock protein HSP22 (HspB8, H11) pptx

... Ao and At are the intensities of the band of intact protein at the beginning of trypsinolysis and at the ﬁxed time of trypsinolysis) against the time of incubation (Fig 8D) The apparent rate constants ... are same as given in (A) Point mutations of the b5–b7 loop of human HSP22 their secondary structure and on superposition of the mammalian protein sequence on the 3D structure of already crystallized ... to provide new information on the structure of sHsp and to shed new light on their role in the development of human congenital diseases Point mutations of the b5–b7 loop of human HSP22 Results...

Báo cáo khoa học: Mutations in the C-terminal domain of ALSV (Avian Leukemia and Sarcoma Viruses) integrase alter the concerted DNA integration process in vitro pot

... important role of speciﬁc residues within the C-terminal domain of ALSV IN Fig Schematic representation of the retroviral integration process and principle of the in vitro concerted DNA integration ... the terminal part of the C-terminal domain of ALSV integrase in the general folding of the enzyme and, hence, in its activity in the concerted DNA integration assay According to the structure proposed ... Analysis of integration efﬁciency of IN mutants The IN mutants were analysed in the context of the concerted DNA integration assay in vitro Integration reactions were performed in the presence of labelled...

Báo cáo khoa học: BRCA1 accumulates in the nucleus in response to hypoxia and TRAIL and enhances TRAIL-induced apoptosis in breast cancer cells pdf

... support the hypothesis that BRCA1 enhances TRAIL s ability to mediate apoptosis in breast cancer cell lines Discussion There is increasing interest in the association between hypoxia and BRCA1 ... induce apoptosis in breast cancer cells Therefore, we assessed the requirement for functional BRCA1 in TRAIL- stimulated apoptosis HCC1937 cells have a 5382insC mutation in BRCA1, resulting in the ... of BRCA1 induced by hypoxia in MDA-MB-468 cells (Fig 2B), resulting in a 35% decrease in nuclear BRCA1 relative to the level in normoxic cells in the presence of 2E5 The decrease in C Fig Hypoxia- induced...

Báo cáo khoa học: Regulation of the muscle-speciﬁc AMP-activated protein kinase a2b2c3 complexes by AMP and implications of the mutations in the c3-subunit for the AMP dependence of the enzyme docx

... presence of AMP (0, 50, 200 or 500 lM AMP) Table Effect of the mutations in the AMPK c3 gene on the AMP dependence of the enzyme Fold stimulation reﬂects the activation of the corresponding AMPK complexes ... AICAR- and contraction-induced a2-AMPK signaling [49] Initially, AMP was thought to increase phosphorylation of AMPK by AMPKK both by direct activation of the upstream kinase and by making the AMPK ... In order to study the effect of the mutations within AMPK c3 on the activity of the enzyme, we introduced several missense mutations into the c3 gene (Fig 2), and investigated the effect of these...

Báo cáo Y học: Barley a-amylase Met53 situated at the high-affinity subsite )2 belongs to a substrate binding motif in the bfia loop 2 of the catalytic (b/a)8-barrel and is critical for activity and substrate specificity pot

... Y8 2TAA are in orange Other binding residues (W9AMY2, H92AMY2, T94AMY2, A9 5AMY2, Y1 30AMY2, A1 45AMY2, F180AMY2, K182AMY2, W206AMY2, S208AMY2, Y2 11AMY2, H288AMY2, Q294AMY2, M296AMY2 and Q35TAA, H 122 TAA, ... The superimpositioning was guided by the catalytic acids (D179AMY2, E204AMY2, and D289AMY2 and D206TAA, E230TAA, and D297TAA) The invariant Y5 1AMY2 and Y8 2TAA are at subsite )1 as are H92AMY2 ... glucosyl at subsite )2 [17] and in contrast to Tyr51AMY2 and Tyr82TAA, the geometry differed of the Met52AMY2 (Met53AMY1) and Trp83TAA (Fig 1A) Also the larger TAA loop in TAA appeared to hinder binding...

Báo cáo sinh học: " Attenuation and efficacy of human parainfluenza virus type 1 (HPIV1) vaccine candidates containing stabilized mutations in the P/C and L genes" potx

... positions 17 10 11 of the L gene of HPIV1 (Table 1) The mutations in Table were introduced into the HPIV1 antigenomic cDNA individually or in combinations to yield the panel of rHPIV1 viruses listed in ... EL, London WT, Murphy BR: Evaluation of bovine, cold-adapted human, and wild -type human parainfluenza type viruses in adult volunteers and in chimpanzees J Clin Microbiol 19 91, 29 :11 75 -11 82 The ... 17 0HNT553ALY942A and rHPIV1-CR84G/ 17 0HNT553AL 17 10 11 vaccine candidates reached peak titers of 7.9 and 7.2 log10 TCID50/ml, respectively, in Vero cells (Figure 1) The level of 17 0HNT553ALY942A...

Báo cáo sinh học: " Functional relevance of nonsynonymous mutations in the HIV-1 tat gene within an epidemiologically-linked transmission cohort" pot

... and R52 participates in the binding of Tat to TAR and is involved in the nuclear localisation of Tat [18,19] The strong or total suppression of transactivation abilities observed in many of the ... selection of multiple nonsynonymous mutations in tat in a unique epidemiologically-linked cohort following transmission of HIV-1 Comparisons of the relative transactivation abilities of the Tat clones ... differences in HIV-1 genetic variability in each member of the cohort, there was considerable stability in the quality of mutations over time in each individual The transactivation abilities of each individual's...

Electricity Infrastructures in the Global Marketplace Part 2 pptx

... have the fuel pins arranged in three concentric rings arranged: Inner: 12 pins Th-U -23 3 with 3.0% U -23 3, Intermediate: 18 pins Th-U -23 3 with 3.75% U -23 3, Outer: 24 pins Th-Pu -23 9 with 3 .25 % Pu The ... the quantity of material that must be removed to access the ore is considerably less than in the case of an open pit mine 62 Electricity Infrastructures in the Global Marketplace An increasing ... nuclear power sector created in 20 07 This could lead to a "strategic 48 Electricity Infrastructures in the Global Marketplace partnership" and include designing and engineering of commercial nuclear...

Báo cáo hóa học: " Attenuation and efficacy of human parainfluenza virus type 1 (HPIV1) vaccine candidates containing stabilized mutations in the P/C and L genes" docx

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