S O Brennan

Summary

Affiliation: Christchurch School of Medicine and Health Sciences
Country: New Zealand

Publications

  1. ncbi request reprint Hypofibrinogenaemia resulting from novel single nucleotide deletion at codon Bbeta58 (3404del A) associated with thrombotic stroke in infancy
    Stephen O Brennan
    Molecular Pathology Laboratory, Canterbury Health Laboratories, P O Box 151, Christchurch, New Zealand
    Thromb Haemost 95:738-9. 2006
  2. doi request reprint Novel haemoglobin mutation (α127Lys→Glu) increases oxygen affinity and has a minor effect on haptoglobin binding
    Stephen O Brennan
    Canterbury Health Laboratories, Christchurch, New Zealand
    Clin Biochem 45:1587-90. 2012
  3. doi request reprint β37Trp→Cys mutation leads to multiple new hemoglobin species in red cells
    Stephen O Brennan
    Canterbury Health Laboratories, Christchurch, New Zealand
    Clin Biochem 45:259-63. 2012
  4. ncbi request reprint Three truncated forms of serum albumin associated with pancreatic pseudocyst
    S O Brennan
    Molecular Pathology Laboratory, Canterbury Health Laboratories, Christchurch Hospital, PO Box 151, Christchurch, New Zealand
    Biochim Biophys Acta 1481:337-43. 2000
  5. ncbi request reprint Hypofibrinogenemia in an individual with 2 coding (gamma82 A-->G and Bbeta235 P-->L) and 2 noncoding mutations
    S O Brennan
    Molecular Pathology Laboratory, Canterbury Health Laboratories, Christchurch Hospital, Christchurch, New Zealand
    Blood 95:1709-13. 2000
  6. ncbi request reprint Hb taradale [beta82(EF6)Lys-->Arg]: a novel mutation at a 2,3-diphosphoglycerate binding site
    Stephen O Brennan
    Molecular Pathology Laboratory, Canterbury Health Laboratories, Christchurch, New Zealand
    Hemoglobin 29:281-4. 2005
  7. pmc Fibrinogen brescia: hepatic endoplasmic reticulum storage and hypofibrinogenemia because of a gamma284 Gly-->Arg mutation
    S O Brennan
    Molecular Pathology Laboratory, Christchurch Hospital, New Zealand
    Am J Pathol 157:189-96. 2000
  8. ncbi request reprint Novel gamma230 Asn-->Asp substitution in fibrinogen Middlemore associated hypofibrinogenaemia
    Stephen O Brennan
    Molecular Pathology Laboratory, Canterbury Health Laboratories, Christchurch School of Medicine, New Zealand
    Thromb Haemost 93:1196-7. 2005
  9. ncbi request reprint Hb riccarton [alpha51(CE9)Gly-->Ser]: a variant arising from a novel mutation in the alpha1 gene
    Stephen O Brennan
    Molecular Pathology Laboratory, Canterbury Health Laboratories, Christchurch, New Zealand
    Hemoglobin 29:61-4. 2005
  10. ncbi request reprint Molecular mechanisms of hypo- and afibrinogenemia
    S O Brennan
    Molecular Pathology Laboratory, Canterbury Health Laboratories, Christchurch Hospital, P O Box 151, Christchurch, New Zealand
    Ann N Y Acad Sci 936:91-100. 2001

Detail Information

Publications80

  1. ncbi request reprint Hypofibrinogenaemia resulting from novel single nucleotide deletion at codon Bbeta58 (3404del A) associated with thrombotic stroke in infancy
    Stephen O Brennan
    Molecular Pathology Laboratory, Canterbury Health Laboratories, P O Box 151, Christchurch, New Zealand
    Thromb Haemost 95:738-9. 2006
  2. doi request reprint Novel haemoglobin mutation (α127Lys→Glu) increases oxygen affinity and has a minor effect on haptoglobin binding
    Stephen O Brennan
    Canterbury Health Laboratories, Christchurch, New Zealand
    Clin Biochem 45:1587-90. 2012
    ..To determine if a new haemoglobin (Hb) variant was the underlying cause of erythrocytosis in a subject with a high apparent HbA(1)c...
  3. doi request reprint β37Trp→Cys mutation leads to multiple new hemoglobin species in red cells
    Stephen O Brennan
    Canterbury Health Laboratories, Christchurch, New Zealand
    Clin Biochem 45:259-63. 2012
    ..To determine the cause of an unusual hemoglobin (Hb) pattern detected during HbA(1)c monitoring...
  4. ncbi request reprint Three truncated forms of serum albumin associated with pancreatic pseudocyst
    S O Brennan
    Molecular Pathology Laboratory, Canterbury Health Laboratories, Christchurch Hospital, PO Box 151, Christchurch, New Zealand
    Biochim Biophys Acta 1481:337-43. 2000
    ..This suggested that the des-Leu(585) form might be present at low levels in the plasma of normal individuals and CNBr mapping confirmed that it constituted 4-15% of the albumin from normal plasma...
  5. ncbi request reprint Hypofibrinogenemia in an individual with 2 coding (gamma82 A-->G and Bbeta235 P-->L) and 2 noncoding mutations
    S O Brennan
    Molecular Pathology Laboratory, Canterbury Health Laboratories, Christchurch Hospital, Christchurch, New Zealand
    Blood 95:1709-13. 2000
    ..Residue gamma82 is located in the triple helix that separates the E and D domains, and aberrant packing of the helices may explain the decreased fibrinogen concentration. (Blood. 2000;95:1709-1713)..
  6. ncbi request reprint Hb taradale [beta82(EF6)Lys-->Arg]: a novel mutation at a 2,3-diphosphoglycerate binding site
    Stephen O Brennan
    Molecular Pathology Laboratory, Canterbury Health Laboratories, Christchurch, New Zealand
    Hemoglobin 29:281-4. 2005
    ..DNA sequencing confirmed the presence of a novel beta82(EF6)Lys-->Arg mutation. This conservative substitution at a 2,3-diphosphoglycerate (2,3-DPG) binding site did not, however, appear to affect the P50 for oxygen binding...
  7. pmc Fibrinogen brescia: hepatic endoplasmic reticulum storage and hypofibrinogenemia because of a gamma284 Gly-->Arg mutation
    S O Brennan
    Molecular Pathology Laboratory, Christchurch Hospital, New Zealand
    Am J Pathol 157:189-96. 2000
    ..These conclusions were supported by studies on six other family members with hypofibrinogenemia, and essentially normal clotting times, who were heterozygous for the gamma284 Gly-->Arg mutation...
  8. ncbi request reprint Novel gamma230 Asn-->Asp substitution in fibrinogen Middlemore associated hypofibrinogenaemia
    Stephen O Brennan
    Molecular Pathology Laboratory, Canterbury Health Laboratories, Christchurch School of Medicine, New Zealand
    Thromb Haemost 93:1196-7. 2005
  9. ncbi request reprint Hb riccarton [alpha51(CE9)Gly-->Ser]: a variant arising from a novel mutation in the alpha1 gene
    Stephen O Brennan
    Molecular Pathology Laboratory, Canterbury Health Laboratories, Christchurch, New Zealand
    Hemoglobin 29:61-4. 2005
    ..However, the novel alpha51(CE9)Gly-->Ser mutation did not appear to be the cause of the microcytosis as it was also detected in the boy's father who had normal red cell indices...
  10. ncbi request reprint Molecular mechanisms of hypo- and afibrinogenemia
    S O Brennan
    Molecular Pathology Laboratory, Canterbury Health Laboratories, Christchurch Hospital, P O Box 151, Christchurch, New Zealand
    Ann N Y Acad Sci 936:91-100. 2001
    ....
  11. ncbi request reprint Gamma371 Thr-->Ile substitution in the fibrinogen gammaD domain causes hypofibrinogenaemia
    S O Brennan
    Molecular Pathology Laboratory, Canterbury Health Laboratories, P O Box 151, Christchurch, New Zealand
    Biochim Biophys Acta 1550:183-8. 2001
    ..Crystal structures show a hydrogen bond from the threonine hydroxyl to the main chain and this case suggests this bond is critical in maintaining the structure of the gammaD domain...
  12. ncbi request reprint Hb Canterbury [beta112(G14)Cys-->Phe]: a new, mildly unstable variant
    Stephen O Brennan
    Molecular Pathology Laboratory, Canterbury Health Laboratories, Christchurch, New Zealand
    Hemoglobin 26:67-9. 2002
  13. ncbi request reprint Novel fibrinogen gamma375 Arg-->Trp mutation (fibrinogen aguadilla) causes hepatic endoplasmic reticulum storage and hypofibrinogenemia
    Stephen O Brennan
    Molecular Pathology Laboratory, Canterbury Health Laboratories, Christchurch, New Zealand
    Hepatology 36:652-8. 2002
    ....
  14. ncbi request reprint Hb Lusaka [alpha131(H14)Ser-->phe (alpha1)]: a new variant found in a woman heterozygous for Hb S [beta6(A3)G1u-->Val]
    Stephen O Brennan
    Molecular Pathology Laboratory, Canterbury Health Laboratories, Christchurch, New Zealand
    Hemoglobin 27:177-80. 2003
  15. ncbi request reprint Dysfibrinogenemia (fibrinogen Wilmington) due to a novel Aalpha chain truncation causing decreased plasma expression and impaired fibrin polymerisation
    Stephen O Brennan
    Canterbury Health Laboratories, Christchurch Hospital, Cnr Hagley Ave and Tuam St, Christchurch, New Zealand
    Thromb Haemost 96:88-9. 2006
  16. doi request reprint Hb Perpignan [beta136(H14)Gly-->Ser], a silent variant associated with normal hematology
    Stephen O Brennan
    Molecular Pathology Laboratory, University of Otago, Christchurch, New Zealand
    Hemoglobin 34:157-60. 2010
    ..This presentation as a benign substitution is in keeping with the low level of phylogenetic conservation of the H14 glycine...
  17. doi request reprint Novel hemoglobin alpha chain elongation resulting from a 15-residue insertion and tandem duplication of the F helix
    Stephen O Brennan
    Molecular Pathology, Canterbury Health Laboratories, Christchurch, New Zealand
    Clin Biochem 41:1156-61. 2008
    ..This variant was detected during HbA1c measurement and was associated with a normal blood count and a positive isopropanol test...
  18. ncbi request reprint Congenital hypodysfibrinogenaemia (Fibrinogen Des Moines) due to a gamma320Asp deletion at the Ca2+ binding site
    Stephen O Brennan
    Molecular Pathology Laboratory, Christchurch School of Medicine, Christchurch, New Zealand
    Thromb Haemost 98:467-9. 2007
  19. ncbi request reprint Hb Manawatu [alpha 37(C2)Pro-->Leu]: a new mildly unstable mutation at an invariant proline residue
    Stephen O Brennan
    Molecular Pathology Laboratory, Canterbury Health Laboratories, P O Box 151, Christchurch, New Zealand
    Hemoglobin 26:389-92. 2002
  20. ncbi request reprint Hypofibrinogenaemia associated with common gamma82Ala-->Gly mutation is not mediated by altered mRNA splicing
    Stephen O Brennan
    Molecular Pathology Laboratory, Canterbury Health Laboratories, Christchurch, New Zealand
    Thromb Haemost 96:535-7. 2006
  21. ncbi request reprint Fibrinogen Mannheim II: a novel gamma307 His-->Tyr substitution in the gammaD domain causes hypofibrinogenemia
    A Dear
    Molecular Pathology Laboratory, Christchurch School of Medicine and Health Sciences, University of Otago, Christchurch, New Zealand
    J Thromb Haemost 2:2194-9. 2004
    ..In recent years it has become clear that the molecular investigation of hypofibrinogenemia provides unique insight into regions of the fibrinogen molecule that are important in molecular assembly, secretion and stability...
  22. ncbi request reprint Hypofibrinogenemia due to novel 316 Asp --> Tyr substitution in the fibrinogen Bbeta chain
    S O Brennan
    Molecular Pathology Laboratory, Christchurch Hospital, New Zealand
    Thromb Haemost 85:450-3. 2001
    ..The residue appears to be critical in maintaining the structure of the five stranded sheet that forms the dominant structural feature of the D domains...
  23. pmc Albumin Redhill (-1 Arg, 320 Ala----Thr): a glycoprotein variant of human serum albumin whose precursor has an aberrant signal peptidase cleavage site
    S O Brennan
    Department of Clinical Biochemistry, Christchurch Hospital, New Zealand
    Proc Natl Acad Sci U S A 87:26-30. 1990
    ....
  24. pmc Aberrant hepatic processing causes removal of activation peptide and primary polymerisation site from fibrinogen Canterbury (A alpha 20 Val --> Asp)
    S O Brennan
    Molecular Pathology Library, Biochemistry Unit, Christchurch Hospital, New Zealand
    J Clin Invest 96:2854-8. 1995
    ..Truncation was further verified by nonreducing SDS-PAGE of the NH2-terminal disulfide knot which indicated the presence of aberrant homo- and heterodimers...
  25. ncbi request reprint The molecular mechanisms of congenital hypofibrinogenaemia
    G J Maghzal
    Molecular Pathology, Canterbury Health Laboratories, Christchurch 8001, New Zealand
    Cell Mol Life Sci 61:1427-38. 2004
    ..The nonexpression of these variant chains in plasma fibrinogen is due to retention in the endoplasmic reticulum, which in turn leads to hypofibrinogenaemia...
  26. ncbi request reprint Albumin Rugby Park: a truncated albumin variant caused by a G-->C splice-site mutation in intron 13
    R J Peach
    Clinical Biochemistry Department, Christchurch Hospital, New Zealand
    Biochim Biophys Acta 1180:107-10. 1992
    ..The new protein lacks the 14 amino acids coded for in the 14th exon (GKKLVAASQAALGH), but these are replaced by 7 new residues (LLQFSSF), giving a truncated albumin of 578 residues...
  27. ncbi request reprint Homozygous truncation of the fibrinogen A alpha chain within the coiled coil causes congenital afibrinogenemia
    A P Fellowes
    Molecular Pathology Laboratory, Canterbury Health Laboratories, Christchurch, New Zealand
    Blood 96:773-5. 2000
    ..Blood. 2000;96:773-775)..
  28. ncbi request reprint Novel Aalpha chain truncation (fibrinogen Perth) resulting in low expression and impaired fibrinogen polymerization
    V M Homer
    Molecular Pathology Laboratory, Canterbury Health Laboratories, Christchurch Hospital, Christchurch, New Zealand
    J Thromb Haemost 1:1245-50. 2003
    ..However, the fibrinolytic rate was very similar to that of the control...
  29. pmc Hypermutability of CpG dinucleotides in the propeptide-encoding sequence of the human albumin gene
    S O Brennan
    Department of Clinical Biochemistry, Christchurch Hospital, New Zealand
    Proc Natl Acad Sci U S A 87:3909-13. 1990
    ..Mutation at these two sites results in a series of recurrent proalbumin variants that have arisen independently in diverse populations...
  30. doi request reprint A deep intronic mutation in FGB creates a consensus exonic splicing enhancer motif that results in afibrinogenemia caused by aberrant mRNA splicing, which can be corrected in vitro with antisense oligonucleotide treatment
    Ryan L Davis
    Molecular Pathology Laboratory, Department of Pathology, Christchurch School of Medicine and Health Sciences, University of Otago, Christchurch, New Zealand
    Hum Mutat 30:221-7. 2009
    ....
  31. ncbi request reprint Albumin Hawkes Bay; a low level variant caused by loss of a sulphydryl group at position 177
    S O Brennan
    Molecular Pathology Laboratory, Clinical Biochemistry Unit, Christchurch, New Zealand
    Biochim Biophys Acta 1182:46-50. 1993
    ..It appears that the aberrant electrophoretic mobility of the variant might be due to a gross conformational change associated with the formation of a new disulphide bond between Cys-168 and Cys-124...
  32. ncbi request reprint The Antarctic toothfish (Dissostichus mawsoni) lacks plasma albumin and utilises high density lipoprotein as its major palmitate binding protein
    V J Metcalf
    Department of Pathology, Christchurch School of Medicine, University of Otago, New Zealand
    Comp Biochem Physiol B Biochem Mol Biol 124:147-55. 1999
    ..In competitive binding experiments, added human albumin did not prevent palmitate binding to toothfish HDL. In conclusion, there is no evidence for albumin in Antarctic toothfish plasma and HDL assumes the role of fatty acid transport...
  33. ncbi request reprint Acquired dysfibrinogenemia caused by monoclonal production of immunoglobulin lambda light chain
    A Dear
    Molecular Pathology Laboratory, Christchurch School of Medicine and Health Sciences, Christchurch, New Zealand
    Haematologica 92:e111-7. 2007
    ..This case was particularly unusual in that the inhibition of fibrin polymerization was caused by a single immunoglobulin light chain, rather than by a whole antibody molecule...
  34. ncbi request reprint Beta 141 Leu is not deleted in the unstable haemoglobin Atlanta-Coventry but is replaced by a novel amino acid of mass 129 daltons
    S O Brennan
    Biochemistry Department, Christchurch Hospital, New Zealand
    Br J Haematol 81:99-103. 1992
    ..We have subsequently found this modified amino acid at position beta 141 in two other unstable haemoglobins, both of which involve mutations on the haem side of the E helix...
  35. ncbi request reprint Structural characterization of a glycoprotein variant of human serum albumin: albumin Casebrook (494 Asp----Asn)
    R J Peach
    Molecular Pathology Laboratory, Department of Pathology, Christchurch School of Medicine, New Zealand
    Biochim Biophys Acta 1097:49-54. 1991
    ..There was no apparent pathology associated with the presence of this new glycosylated albumin, which was detected in two unrelated individuals of Anglo-Saxon descent...
  36. ncbi request reprint Defective fibrinogen polymerization associated with a novel gamma279Ala-->Asp mutation
    S O Brennan
    Molecular Pathology Laboratory, Christchurch Hospital, Christchurch, New Zealand
    Br J Haematol 108:236-40. 2000
    ....
  37. pmc Deletion of five residues from the coiled coil of fibrinogen (Bbeta Asn167_Glu171del) associated with bleeding and hypodysfibrinogenemia
    Stephen O Brennan
    Molecular Pathology Laboratory, Canterbury Health Laboratories, PO Box 151, Christchurch, New Zealand
    Haematologica 94:585-8. 2009
    ..Mechanistically the 15-nucleotide deletion appears to arise from replication advancement during DNA synthesis caused by a flanking pentanucleotide repeat of AATGA...
  38. ncbi request reprint New carbohydrate site in mutant antithrombin (7 Ile----Asn) with decreased heparin affinity
    S O Brennan
    Pathology Department, Christchurch School of Medicine, Christchurch Hospital, New Zealand
    FEBS Lett 237:118-22. 1988
    ..This new oligosaccharide attachment site occupies the base of the proposed heparin-binding site, and the finding explains the consequent decrease in heparin affinity...
  39. ncbi request reprint Degradation of human adrenomedullin(1-52) by plasma membrane enzymes and identification of metabolites
    L K Lewis
    Department of Endocrinology, Christchurch Hospital, New Zealand
    Peptides 18:733-9. 1997
    ..Improved understanding of the metabolism of ADM may have therapeutic implications, for example in the treatment of heart failure...
  40. ncbi request reprint Hb Auckland [alpha 87(F8) His-->Asn]: a new mutation of the proximal histidine identified by electrospray mass spectrometry
    S O Brennan
    Molecular Pathology Laboratory, Christchurch Hospital, New Zealand
    Hemoglobin 21:393-403. 1997
    ..This was confirmed by sequence analysis of the peptide alpha 85-90...
  41. ncbi request reprint Identification and characterization of five new fibrinogen gene polymorphisms
    A P Fellowes
    Molecular Pathology Laboratory, Canterbury Health Laboratories, Christchurch, New Zealand
    Ann N Y Acad Sci 936:536-41. 2001
    ..This data indicates that these polymorphisms occur randomly with respect to background haplotype, and suggests that they are mutational hot spots...
  42. ncbi request reprint The albumin of the brown trout (Salmo trutta) is a glycoprotein
    V J Metcalf
    Molecular Pathology Laboratory, Department of Pathology, Christchurch School of Medicine, University of Otago, P O Box 4345, Christchurch, New Zealand
    Biochim Biophys Acta 1386:90-6. 1998
    ....
  43. ncbi request reprint Fibrinogen Darlinghurst: hypofibrinogenaemia caused by a W253G mutation in the gamma chain in a patient with both bleeding and thrombotic complications
    Campbell R Sheen
    Molecular Pathology, Christchurch School of Medicine and Health Sciences, 2 Riccarton Avenue, P O Box 4345, Christchurch, New Zealand
    Thromb Haemost 96:685-7. 2006
  44. ncbi request reprint Double complex mutations involving F8 and FUNDC2 caused by distinct break-induced replication
    Campbell R Sheen
    Molecular Pathology Laboratory, Canterbury Health Laboratories, Christchurch, New Zealand
    Hum Mutat 28:1198-206. 2007
    ..This investigation has provided novel insights into processes of DNA repair including BIR and the first description of SRS during repair in a pathological context...
  45. ncbi request reprint Novel fibrinogen truncation with deletion of Bbeta chain residues 440-461 causes hypofibrinogenaemia
    Vivienne M Homer
    Molecular Pathology Laboratory, Canterbury Health Laboratories, Christchurch, New Zealand
    Thromb Haemost 88:427-31. 2002
    ..The mutation does not however provoke the formation of hepatic inclusion bodies...
  46. ncbi request reprint The sialic acid content of fibrinogen decreases during pregnancy and increases in response to fibrate therapy
    Ghassan J Maghzal
    Molecular Pathology Laboratory Canterbury Health, Laboratories, P O Box 151 Christchurch, New Zealand
    Thromb Res 115:293-9. 2005
  47. ncbi request reprint Fibrinogen Tolaga Bay: a novel gammaAla341Val mutation causing hypofibrinogenaemia
    Ryan L Davis
    Christchurch School of Medicine and Health Sciences, University of Otago, Christchurch, New Zealand
    Thromb Haemost 98:1136-8. 2007
  48. ncbi request reprint Hypofibrinogenaemia associated with a novel heterozygous gamma289 Ala -->Val substitution (fibrinogen Dorfen)
    Amy Dear
    Molecular Pathology Laboratory, Christchurch School of Medicine and Health Sciences, PO Box 4345, Christchurch, New Zealand
    Thromb Haemost 92:1291-5. 2004
    ..This case suggests that the highly conserved Ala(289) is important in maintaining structure of the "a" polymerization site via hydrogen bonding to Thr(371)...
  49. ncbi request reprint Fibrinogen Hillsborough: a novel gammaGly309Asp dysfibrinogen with impaired clotting
    Jennifer L Mullin
    Molecular Pathology Laboratory, Canterbury Health Laboratories, Christchurch Hospital, Christchurch, New Zealand
    Blood 99:3597-601. 2002
    ....
  50. ncbi request reprint Fibrinogen B beta polymorphisms do not directly contribute to an altered in vitro clot structure in humans
    Ghassan J Maghzal
    Molecular Pathology, Canterbury Health Laboratories, PO Box 151, Christchurch, New Zealand
    Thromb Haemost 90:1021-8. 2003
    ....
  51. ncbi request reprint Familial hypofibrinogenaemia associated with heterozygous substitution of a conserved arginine residue; Bbeta255 Arg-->His (Fibrinogen Merivale)
    Ghassan J Maghzal
    Molecular Pathology Laboratory, Canterbury Health Laboratories, PO Box 151, Christchurch, New Zealand
    Biochim Biophys Acta 1645:146-51. 2003
    ..Protein instability from loss of this contact could easily explain the association of this mutation with hypofibrinogenaemia...
  52. ncbi request reprint Fibrinogen Montreal: a novel missense mutation (Aa D496N) associated with hypofibrinogenaemia
    Campbell R Sheen
    Molecular Pathology, Christchurch School of Medicine and Health Sciences, University of Otago, Christchurch, New Zealand
    Thromb Haemost 96:231-2. 2006
  53. ncbi request reprint Endopeptidase-24.11 in human plasma degrades atrial natriuretic factor (ANF) to ANF(99-105/106-126)
    T G Yandle
    Department of Endocrinology, Princess Margaret Hospital, Christchurch, New Zealand
    Peptides 10:891-4. 1989
    ..Degradation of ANF was inhibited by EDTA and phosphoramidon. These findings are consistent with the action of endopeptidase EC 3.4.24.11, which may play an important part in the biological inactivation of ANF...
  54. ncbi request reprint High density lipoprotein (HDL), and not albumin, is the major palmitate binding protein in New Zealand long-finned (Anguilla dieffenbachii) and short-finned eel (Anguilla australis schmidtii) plasma
    V J Metcalf
    Department of Pathology, Christchurch School of Medicine, University of Otago, Christchurch, New Zealand
    Biochim Biophys Acta 1429:467-75. 1999
    ..There was no evidence of albumin in plasma from either eel, and it appears that in its absence HDL takes on the role of fatty acid transport...
  55. ncbi request reprint Electrospray ionization mass analysis of normal and genetic variants of human serum albumin
    S O Brennan
    Molecular Pathology Laboratory, Canterbury Health Laboratories, Christchurch Hospital, New Zealand
    Clin Chem 44:2264-9. 1998
    ..Clear shifts in mass were also detected for the point substitutions 177Cys-->Phe (44 Da), 1Asp-->Val (20 Da), and Arg-albumin (160 Da)...
  56. pmc Haemoglobin Marseille-Long Island and interpretation of HbA1c: which HbA1c result is the "right answer"?
    C M Florkowski
    Clinical Biochemistry Unit, Canterbury Health Laboratories, Christchurch, New Zealand
    Postgrad Med J 79:174-5. 2003
    ..2%) compared with the non-diabetic range of less than 6.4%. Mass spectral studies confirmed the presence a haemoglobin variant, haemoglobin Marseille-Long Island which had confounded interpretation by all methods...
  57. doi request reprint A second case of Hb Fontainebleau [alpha21(B2)Ala-->Pro] in an individual with microcytosis
    Stephen O Brennan
    Molecular Pathology Laboratory, University of Otago, Christchurch, New Zealand
    Hemoglobin 33:258-61. 2009
    ....
  58. ncbi request reprint Haemoglobin Pierre-Benite--a high affinity variant associated with relative polycythaemia
    M E Beard
    The Department of Haematology, Christchurch Hospital, Canterbury Health, Christchurch, New Zealand
    Clin Lab Haematol 23:407-9. 2001
    ..This finding led to delay in diagnosis because high oxygen affinity variants are conventionally considered to cause a true polycythaemia...
  59. ncbi request reprint Circulating proalbumin associated with a second case of antitrypsin Pittsburgh
    S O Brennan
    Molecular Pathology Laboratory, Christchurch Hospital, New Zealand
    Clin Chim Acta 214:123-8. 1993
    ....
  60. doi request reprint Hb Koya Dora [alpha142, Term-->Ser (TAA>TCA in alpha2)]: a rare mutation of the alpha2 gene stop codon associated with alpha-thalassemia
    Stephen O Brennan
    Molecular Pathology Laboratory, University of Otago, Christchurch, New Zealand
    Hemoglobin 34:402-5. 2010
    ..Here we identify a homozygous case of Hb Koya Dora and confirm the structure of the 31 residue alpha chain extension...
  61. pmc Characterization of non-covalent oligomers of proteins treated with hypochlorous acid
    Anna L P Chapman
    Free Radical Research Group, Department of Pathology, Christchurch School of Medicine and Health Sciences, P O Box 4345, Christchurch, New Zealand
    Biochem J 375:33-40. 2003
    ..This process could lead to the formation of aggregated proteins at sites of myeloperoxidase activity and contribute to inflammatory tissue injury...
  62. doi request reprint Novel frameshift in the serum albumin gene results in analbuminemia through premature truncation and post translational modification
    Ryan L Davis
    Molecular Pathology Laboratory, Christchurch School of Medicine and Health Sciences, University of Otago, Christchurch, PO Box 4345, Christchurch, New Zealand
    Clin Biochem 41:1482-5. 2008
    ..To identify the molecular lesion in a patient with analbuminemia...
  63. ncbi request reprint Modified form of the fibrinogen Bbeta chain (des-Gln Bbeta), a potential long-lived marker of pancreatitis
    David Schmidt
    Molecular Pathology Laboratory, Canterbury Health Laboratories, Christchurch, New Zealand
    Clin Chem 53:2105-11. 2007
    ..We investigated the structure of the modified fibrinogen and explored its relationship to pancreatic disease...
  64. ncbi request reprint Severe hypodysfibrinogenemia in compound heterozygotes of the fibrinogen AalphaIVS4 + 1G>T mutation and an AalphaGln328 truncation (fibrinogen Keokuk)
    Phil Lefebvre
    Department of Cell and Molecular Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA
    Blood 103:2571-6. 2004
    ..However, compound heterozygosity for both mutations was required for the expression of severe hypodysfibrinogenemia and for clinical symptoms...
  65. ncbi request reprint Four novel polymorphisms in the fibrinogen Aalpha gene
    Vivienne M Homer
    Thromb Haemost 87:354-5. 2002
  66. ncbi request reprint Novel fibrinogen Bbeta gene mutation causing hypofibrinogenaemia
    Vivienne M Homer
    Thromb Haemost 88:1066-7. 2002
  67. ncbi request reprint Low expression of truncated Aalpha chain variant in circulating fibrinogen
    Stephen O Brennan
    Thromb Haemost 88:533-4. 2002
  68. ncbi request reprint Fibrinogen Leipzig II (gamma351Gly-->Ser and gamma82Ala-->Gly): hypodysfibrinogenaemia due to two independent amino acid substitutions within the same polypeptide chain
    Michael Meyer
    Department of Biomedical Engineering and Biotechnology, University of Applied Sciences FH, Carl Zeiss Promenade 2, 07745 Jena, Germany
    Thromb Haemost 98:903-5. 2007
  69. ncbi request reprint An SRLLR motif downstream of the scissile bond enhances enterokinase cleavage efficiency
    Oi Wah Liew
    Deputy Principal Academic s Office, Technology Centre for Life Sciences, Singapore Polytechnic, 500 Dover Road, Singapore 139651, Singapore
    Biochimie 89:21-9. 2007
    ....
  70. ncbi request reprint Fibrinogen Nottingham II: a novel Bbeta Arg264gly substitution causing hypofibrinogenaemia
    Marian B Hill
    Department of Clinical Chemistry, Nottingham University Hospitals, Nottingham, UK
    Thromb Haemost 96:378-80. 2006
  71. ncbi request reprint Novel fibrinogen mutation (gamma 313 Ser-->Asn) associated with hypofibrinogenemia in two unrelated families
    Michael Meyer
    Department of Biomedical Engineering, University of Applied Sciences, Jena, Germany
    Blood Coagul Fibrinolysis 17:63-7. 2006
    ..The molecular defect affecting an evolutionary highly conserved amino acid residue in human fibrinogen interferes with plasma expression of the variant molecules and is causative for the observed hypofibrinogenemic phenotype...
  72. pmc Mutant fibrinogen cleared from the endoplasmic reticulum via endoplasmic reticulum-associated protein degradation and autophagy: an explanation for liver disease
    Kristina B Kruse
    Biology Department, University of Nevada, Reno, NV 89557, USA
    Am J Pathol 168:1299-308; quiz 1404-5. 2006
    ..These findings have clinical relevance in the understanding of and treatment for ER storage diseases...
  73. ncbi request reprint Human plasma fibrinogen is synthesized in the liver
    Glenys A Tennent
    Centre for Amyloidosis and Acute Phase Proteins, Department of Medicine, Royal Free and University College Medical School, London, United Kingdom
    Blood 109:1971-4. 2007
    ..After transplantation, only the wild-type sequence was detected, and the liver is thus the source of at least 98% of the circulation fibrinogen...
  74. ncbi request reprint Fibrinogen Saint-Germain II: hypofibrinogenemia due to heterozygous gamma N345S mutation
    Emmanuelle de Raucourt
    Laboratoire d Hematologie, CHI Poissy St Germain en Laye, St Germain en Laye, France
    Thromb Haemost 94:965-8. 2005
    ..The hypofibrinogenemia may be contributory to the thrombophilic manifestations...
  75. ncbi request reprint Hereditary amyloidosis with progressive peripheral neuropathy associated with apolipoprotein AI Gly26Arg: outcome of hepatorenal transplantation
    Adam G Testro
    Department of Gastroenterology and Hepatology, Austin Health, Melbourne, Australia
    Liver Transpl 13:1028-31. 2007
    ....
  76. ncbi request reprint Fibrinogen Columbus: a novel gamma Gly200Val mutation causing hypofibrinogenemia in a family with associated thrombophilia
    Ryan L Davis
    Haematologica 92:1151-2. 2007
    ..2-5 Here we report the identification of a novel point mutation gammaG200V (fibrinogen Columbus) causing hypofibrinogenemia and co-segregating with three genetic thrombophilia risk factors...
  77. ncbi request reprint Novel hemoglobin (Hb Grey Lynn) substitution (alpha91Leu --> Phe) affects heme interactions and alpha1beta2 contacts
    Stephen O Brennan
    Clin Chem 53:990-1. 2007
  78. ncbi request reprint Fifty-eight years of hemoglobin analysis
    Stephen O Brennan
    Clin Chem 54:8-10. 2008
  79. ncbi request reprint Preparation of recombinant thioredoxin fused N-terminal proCNP: Analysis of enterokinase cleavage products reveals new enterokinase cleavage sites
    Oi Wah Liew
    Deputy Principal Academic s Office, Technology Centre for Life Sciences, Singapore Polytechnic, 500 Dover Road, Singapore 139651, Singapore
    Protein Expr Purif 41:332-40. 2005
    ..Our results showed that non-target sequences can be preferentially recognized over the canonical DDDDK sequence when located accessibly at the ends of proteins...
  80. ncbi request reprint Hemoglobin Hagley Park: a novel (alpha82Ala-->Thr) substitution identified in an infant with severe hemolytic anemia
    Stephen O Brennan
    Clin Chem 53:1718-9. 2007