[PDF] Top 20 The molecular basis of hereditary complement factor I deficiency
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The molecular basis of hereditary complement factor I deficiency
... size FI, they are known to secrete a large number of comple- ment proteins, including those of the alternative pathway (33). When fibroblast RNA was used in RT-PCR, FI cDNA was amplified after 35 cycles of PCR. Shave ... See full document
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Molecular basis of the human dihydropyrimidine dehydrogenase deficiency and 5 fluorouracil toxicity
... A significant level of variability of DPD activity within the normal population has been reported (16, 25, 27). We have amplified by PCR and directly sequenced 17 out of the 22 ex- ons present in the DPYD gene (results ... See full document
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Complement factor I deficiency: a not so rare immune defect. Characterization of new mutations and the first large gene deletion
... We found 4 novel mutations causing CFI deficiency. Among them, we describe here the first large gene dele- tion reported in the CFI locus, which includes exon 2 and part of the very large intron 1. This deletion ... See full document
8
The molecular basis of human 3 methylcrotonyl CoA carboxylase deficiency
... (MCC) deficiency is an autosomal recessive disorder of leucine catabolism that appears to be the most frequent organic aciduria detected in tandem mass spectrometry–based neonatal screening ... See full document
11
Hereditary porcine membranoproliferative glomerulonephritis type II is caused by factor H deficiency
... described hereditary membranoproliferative glomerulonephritis type II in the ...excessive complement activation, revealed as low plasma C3, elevated plasma terminal complement complex, and massive ... See full document
9
Impaired secretion of the elongated mutant of protein C (protein C Nagoya) Molecular and cellular basis for hereditary protein C deficiency
... this molecular abnormality leads to protein C deficiency, an expression plasmid containing this mutation was transfected into COS 7, BHK, and psi-2 cells, and the secretory process of the expressed Protein ... See full document
9
Molecular and cellular basis of deficiency of the b subunit for factor XIII secondary to a Cys430 Phe mutation in the seventh Sushi domain
... for deficiency of the b subunit for factor XIII in the first known case of this ...apparent molecular weight of the mutant was slightly higher than those of the wild-type and plasma b subunits under ... See full document
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Ecallantide is a novel treatment for attacks of hereditary angioedema due to C1 inhibitor deficiency
... C1-INH deficiency are medi- ated by the excessive release of vasoactive ...of factor XII, a protein that autoactivates upon exposure to negatively charged ...of factor XII yields factor XIIa ... See full document
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Molecular basis of subtotal complement C6 deficiency A carboxy terminally truncated but functionally active C6
... sequencing PCR-amplified products from this region, we found, in three individuals from two families, a mutation that might plausibly be responsible for the defect. All three have an abnormal 5' splice donor site of ... See full document
8
Invasive meningococcal disease in three siblings with hereditary deficiency of the 8th component of complement: evidence for the importance of an early diagnosis
... lectin complement pathways was measured in serum from the 3 siblings and their parents (37-year-old woman and 42-year-old ...Serum complement factors were measured by haemolytic assays and ...three ... See full document
6
Genetic basis of human complement C4A deficiency Detection of a point mutation leading to nonexpression
... human complement system (C4) is coded for by two genes, C4A and C4B, located within the ...the molecular basis of these non-expressed C4A genes, we selected nine pairs of PCR primers from flanking ... See full document
7
Hereditary deficiency of the seventh component of complement
... opsonizing unsensitized yeast particles in serum and in the generation of chemotactic factor by antigen-antibody complexes and endotoxin. Both deficiencies were corrected by the addition of C7. These observations ... See full document
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Molecular basis for the deficiency of complement 1 inhibitor in type I hereditary angioneurotic edema
... supernatants of cells from HANE patients at levels 20% of those detected in normals. The intracellular reduction of C1 INH in patients' monocytes approached 50%. The study of C1 INH messenger RNA (mRNA) by Northern blot ... See full document
6
Molecular basis of hereditary C3 deficiency
... Hereditary deficiency of complement component C3 in a 10-yr-old boy was studied. C3 could not be detected by RIA of serum from the patient. Segregation of C3 S and C3 F allotypes within the family ... See full document
7
Molecular basis of complement C3 deficiency in guinea pigs
... biochemical basis of a genetically determined deficiency of the third component of complement (C3) in guinea pigs, we found that C3-deficient liver and peritoneal macrophages contain C3 messenger RNA ... See full document
12
Molecular basis of hepatic carnitine palmitoyltransferase I deficiency
... toyltransferase I (CPT I) deficiency, of which until now no mutations have been reported although the defect is enzy- matically well ...CPT I is the key enzyme in the carnitine-dependent ... See full document
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Hereditary deficiency of the fifth component of complement in man II Biological properties of C5 deficient human serum
... TABLE II Activity of Normal and C5D Sera in Opsonization of Baker's Yeast for Phagocytosis by Normal Human Leukocytes Ratio of yeast/100 PMN leukocytes obtained with test serum to value [r] ... See full document
10
Molecular basis of aromatase deficiency in a 46, XX patient with mutation
... caused by mutations in human NADPH cytochrome P450 reductase.. Marohnic CC, Panda SP, McCammon K, Rueff J, Masters BSS, Kranendonk M 2010 737[r] ... See full document
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The relative merits of therapies being developed to tackle inappropriate (‘self’-directed) complement activation
... of complement activation at the C3 level which implies a general and broad inhibition but others are based on the selective blocking of C5 activation which leads to the inhibition of C5a and C5b-9 formation ... See full document
15
Stuart Clotting Defect I Segregation of an Hereditary Hemorrhagic State from the Heterogeneous Group Heretofore Called “Stable Factor” (SPCA, Proconvertin, Factor VII) Deficiency
... Effect of PTC-deficient Christmas disease plsma and serum on Stuart clotting defect Plasma from a patient with PTC deficiency Christmas disease corrected the prolonged prothrombin time o[r] ... See full document
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