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Several Family Members (several + family_member)
Selected AbstractsCompound heterozygosity of two missense mutations in the NADH-cytochrome b5 reductase gene of a Polish patient with type I recessive congenital methaemoglobinaemiaEUROPEAN JOURNAL OF HAEMATOLOGY, Issue 6 2003Dorota Grabowska Abstract: A case of type I methaemoglobinaemia observed in a Polish subject with compound heterozygosity for two mutations in the reduced nicotinamide adenine dinucleotide (NADH) cytochrome b5 reductase (b5R) gene is described. One is a novel mutation 647T,C which leads to substitution of isoleucine by threonine at position 215 (I215T). This maternal mutation was found in several family members. A previously known mutation, 757G,A, leads to the replacement of valine by methionine at position 252 (V252M). The latter mutation was found also in the father and one of the two brothers. The effects of these mutations were analysed on a model of the human b5R protein obtained by homology modelling. Although both amino acid substitutions are located in the NADH-binding domain, the whole protein structure, especially the region between the flavin adenine dinucleotide and NADH-binding domains, is disturbed. The structural changes in the I215T mutant are less prominent than those in the V252M mutant. We presume that the 647T,C mutation is a type I mutation, however, it has not been observed in the homozygous state. [source] Side chain specificity of ADP-ribosylation by a sirtuinFEBS JOURNAL, Issue 23 2009Kamau Fahie Endogenous mono-ADP-ribosylation in eukaryotes is involved in regulating protein synthesis, signal transduction, cytoskeletal integrity, and cell proliferation, although few cellular ADP-ribosyltransferases have been identified. The sirtuins constitute a highly conserved family of protein deacetylases, and several family members have also been reported to perform protein ADP-ribosylation. We characterized the ADP-ribosylation reaction of the nuclear sirtuin homolog Trypanosoma brucei SIR2-related protein 1 (TbSIR2RP1) on both acetylated and unacetylated substrates. We demonstrated that an acetylated substrate is not required for ADP-ribosylation to occur, indicating that the reaction performed by TbSIR2RP1 is a genuine enzymatic reaction and not a side reaction of deacetylation. Biochemical and MS data showed that arginine is the major ADP-ribose acceptor for unacetylated substrates, whereas arginine does not appear to be the major ADP-ribose acceptor in reactions with acetylated histone H1.1. We performed combined ab initio quantum mechanical/molecular mechanical molecular dynamics simulations, which indicated that sirtuin ADP-ribosylation at arginine is energetically feasible, and involves a concerted mechanism with a highly dissociative transition state. In comparison with the corresponding nicotinamide cleavage in the deacetylation reaction, the simulations suggest that sirtuin ADP-ribosylation would be several orders slower but less sensitive to nicotinamide inhibition, which is consistent with experimental results. These results suggest that TbSIR2RP1 can perform ADP-ribosylation using two distinct mechanisms, depending on whether or not the substrate is acetylated. Structured digital abstract ,,MINT-7288298: TbSIR2 (uniprotkb:O96670) adp ribosylates (MI:0557) histone H1.1 (uniprotkb:Q02539) by enzymatic studies (MI:0415) ,,MINT-7288305, MINT-7288325, MINT-7288338, MINT-7288352, MINT-7288370, MINT-7288395, MINT-7288412: TbSIR2 (uniprotkb:O96670) adp ribosylates (MI:0557) histone H1.1 (uniprotkb:P02253) by enzymatic studies (MI:0415) ,,MINT-7288385: TbSIR2 (uniprotkb:O96670) deacetylates (MI:0197) histone H1.1 (uniprotkb:Q02539) by deacetylase assay (MI:0406) ,,MINT-7288424: hADPRH (uniprotkb:P54922) cleaves (MI:0194) histone H1.1 (uniprotkb:Q02539) by enzymatic studies (MI:0415) [source] Subject and informant characteristics influence the reliability and validity of family history information: an analysis based on the generalized estimating equations approachINTERNATIONAL JOURNAL OF METHODS IN PSYCHIATRIC RESEARCH, Issue 2 2000Reinhard Heun Abstract Family history information is a necessary surrogate for unavailable interview information in family studies. However, the reliability and validity of such information has rarely been assessed during the conduct of family studies. This paper presents a reanalysis of data on the reliability and validity of family history information for dementia and depression using the general estimation equations approach. All available relatives of patients and controls were interviewed and questioned about the psychiatric morbidity of other family members. Interinformant reliability of this family history information was evaluated as well as factors influencing this information. The validity of family history was investigated by comparing the informant derived diagnoses with interview-derived diagnoses. To account for possible lack of independence of family history provided by several family members on other family members, the generalized estimating equations (GEE) were used in statistical analysis. The interinformant reliability for depression (kappa = 0.13) was low. It was fair for dementia (kappa = 0.34). The informants more frequently agreed about the diagnosis of dementia when the subject was older. The sensitivity of family history was 35.2% for dementia and 31.8% for depression. The specificity of family history information was generally above 97%. The sensitivity of family history increased significantly with the severity of both disorders. The sensitivity of the family history for dementia was higher when the informant was a first-degree relative, when he was younger and when the index subject of the family suffered from dementia. The specificity of the family history was slightly reduced with higher age. The observed low sensitivity of family history information leads to underestimation of psychiatric disorders. The informants provide more useful information on more severe disorders. The sensitivity of family history was higher in families with an affected index subject than in control families, so familial aggregation of dementia might be overestimated in studies using the family history method. Copyright © 2000 Whurr Publishers Ltd. [source] Communication about consumption: a family process perspective on ,green' consumer practicesJOURNAL OF CONSUMER BEHAVIOUR, Issue 6 2006Alice Grønhøj Family decision-making still constitutes a niche of consumer research. The preference towards using individualist approaches is even more prevalent in research on environmentally oriented consumer behaviour. However, many green consumer practices involve several family members, who may be able to exert significant influences on household subscription to these practices. The present study used qualitative research methods to examine family member interaction in relation to four topics: organic food, water and energy, waste and transport. Results show that peaceful as well as more conflict-ridden, day-to-day influences between family members are a common phenomenon, even when it comes to inconspicuous, everyday consumer behaviour. Copyright © 2006 John Wiley & Sons, Ltd. [source] | ||||||||||