BRCA1 mutations in the family history clinic

... 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 trunc...

Ngày tải lên: 17/09/2015, 17:20

... 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...

Ngày tải lên: 17/09/2015, 17:20

... 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 AGGTATGTTATT...

Ngày tải lên: 19/02/2014, 00:20

... 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 Met...

Ngày tải lên: 19/02/2014, 12:20

... 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...

Ngày tải lên: 22/02/2014, 07:20

... 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 fre...

Ngày tải lên: 07/03/2014, 09:20

... 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 mammal...

Ngày tải lên: 23/03/2014, 07:20

... 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 i...

Ngày tải lên: 23/03/2014, 15:21

... 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...

Ngày tải lên: 30/03/2014, 03:20

... 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...

Ngày tải lên: 30/03/2014, 08:20

... 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 ch...

Ngày tải lên: 18/06/2014, 18:20

... 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...

Ngày tải lên: 18/06/2014, 18:20

... 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 ch...

Ngày tải lên: 20/06/2014, 01:20

... 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...

Ngày tải lên: 20/06/2014, 01:20

... does it relate to breast cancer in African-American women? Cancer, 2005, 103(8): 1540-1550 Collaborative Group on Hormonal Factors in Breast Cancer Breast cancer and breastfeeding: collaborative ... differentiated ductal Atypical infiltrating ductal polymorphic infiltrating ductal III polymorphic infiltrating 0.7 II ductal cm infiltrating ductal cm II n.i p.Pro606fs atypical...

Ngày tải lên: 08/08/2014, 17:20