Sökning: onr:"swepub:oai:lup.lub.lu.se:65755303-7a9a-46f9-b963-616c1c4e76ff" > Genetic, molecular ...
Fältnamn | Indikatorer | Metadata |
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000 | 04067naa a2200433 4500 | |
001 | oai:lup.lub.lu.se:65755303-7a9a-46f9-b963-616c1c4e76ff | |
003 | SwePub | |
008 | 160404s2009 | |||||||||||000 ||eng| | |
024 | 7 | a https://lup.lub.lu.se/record/12763152 URI |
024 | 7 | a https://doi.org/10.1002/eji.2008387022 DOI |
040 | a (SwePub)lu | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a art2 swepub-publicationtype |
072 | 7 | a ref2 swepub-contenttype |
100 | 1 | a Nilsson, Sarau Lund University,Lunds universitet,Klinisk kemi, Malmö,Forskargrupper vid Lunds universitet,Clinical Chemistry, Malmö,Lund University Research Groups4 aut0 (Swepub:lu)klke-sni |
245 | 1 0 | a Genetic, molecular and functional analyses of complement factor I deficiency. |
264 | c 2008-12-09 | |
264 | 1 | b Wiley,c 2009 |
520 | a Complete deficiency of complement inhibitor factor I (FI) results in secondary complement deficiency due to uncontrolled spontaneous alternative pathway activation leading to susceptibility to infections. Current genetic examination of two patients with near complete FI deficiency and three patients with no detectable serum FI and also close family members revealed homozygous or compound heterozygous mutations in several domains of FI. These mutations were introduced into recombinant FI and the resulting proteins were purified for functional studies, while transient transfection was used to analyze expression and secretion. The G170V mutation resulted in a protein that was not expressed, whereas the mutations Q232K, C237Y, S250L, I339M and H400L affected secretion. Furthermore, the C237Y and the S250L mutants did not degrade C4b and C3b as efficiently as the WT. The truncated Q336x mutant could be expressed, in vitro, but was not functional because it lacks the serine protease domain. Furthermore, this truncated FI was not detected in serum of the patient. Structural investigations using molecular modeling were performed to predict the potential impact the mutations have on FI structure. This is the first study that investigates, at the functional level, the consequences of molecular defects identified in patients with full FI deficiency. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Immunologi inom det medicinska området0 (SwePub)301102 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Immunology in the medical area0 (SwePub)301102 hsv//eng |
700 | 1 | a Trouw, Leendertu Lund University,Lunds universitet,Klinisk kemi, Malmö,Forskargrupper vid Lunds universitet,Clinical Chemistry, Malmö,Lund University Research Groups4 aut0 (Swepub:lu)klke-ltr |
700 | 1 | a Renault, Nicolas4 aut |
700 | 1 | a Miteva, Maria A4 aut |
700 | 1 | a Genel, Ferah4 aut |
700 | 1 | a Zelazko, Marta4 aut |
700 | 1 | a Marquart, Hanne4 aut |
700 | 1 | a Muller, Klaus4 aut |
700 | 1 | a Sjöholm, Andersu Lund University,Lunds universitet,Avdelningen för mikrobiologi, immunologi och glykobiologi - MIG,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Microbiology, Immunology and Glycobiology - MIG,Department of Laboratory Medicine,Faculty of Medicine4 aut0 (Swepub:lu)mmb-asj |
700 | 1 | a Truedsson, Lennartu Lund University,Lunds universitet,Avdelningen för mikrobiologi, immunologi och glykobiologi - MIG,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Microbiology, Immunology and Glycobiology - MIG,Department of Laboratory Medicine,Faculty of Medicine4 aut0 (Swepub:lu)mmb-ltr |
700 | 1 | a Villoutreix, Bruno O4 aut |
700 | 1 | a Blom, Anna M4 aut |
710 | 2 | a Klinisk kemi, Malmöb Forskargrupper vid Lunds universitet4 org |
773 | 0 | t European Journal of Immunologyd : Wileyg 39:1, s. 310-323q 39:1<310-323x 1521-4141x 0014-2980 |
856 | 4 | u http://www.ncbi.nlm.nih.gov/pubmed/19065647?dopt=Abstracty FULLTEXT |
856 | 4 | u http://dx.doi.org/10.1002/eji.200838702y FULLTEXT |
856 | 4 8 | u https://lup.lub.lu.se/record/1276315 |
856 | 4 8 | u https://doi.org/10.1002/eji.200838702 |
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