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Lista de obras de Steve Brennan

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.

artículo científico publicado en 2009

A family with haemolytic anaemia and three beta-globins: the deletion in haemoglobin Atlanta-Coventry (beta 75 Leu----Pro, 141 Leu deleted) is not present at the nucleotide level

artículo científico publicado el 1 de mayo de 1992

A mass-spectroscopic method for measuring des-Leu albumin — A novel marker for chronic pancreatitis ⬇️

artículo científico publicado el 25 de agosto de 2012

A new hybrid haemoglobin: haemoglobin strumica/beograd occurring in an individual with four haemoglobins ⬇️

artículo científico publicado el 1 de enero de 1977

A novel mutation in the FGB: c.1105C>T turns the codon for amino acid Bβ Q339 into a stop codon causing hypofibrinogenemia ⬇️

artículo científico publicado el 23 de diciembre de 2012

A second case of Hb Fontainebleau [alpha21(B2)Ala-->Pro] in an individual with microcytosis

artículo científico publicado en 2009

Aberrant hepatic processing causes removal of activation peptide and primary polymerisation site from fibrinogen Canterbury (A alpha 20 Val --> Asp).

artículo científico publicado en 1995

Acquired dysfibrinogenemia caused by monoclonal production of immunoglobulin lambda light chain

artículo científico publicado en 2007

Active site of alpha 1-antitrypsin: homologous site in antithrombin-III

scientific article published on 01 March 1980

Adjacent substitutions (γ352Gly→Cys and 353Thr→Pro) in fibrinogen Ilam cause diminished γ chain expression

artículo científico publicado en 2010

Albumin Church Bay: 560 Lys→Glu a new mutation detected by electrospray ionisation mass spectrometry ⬇️

artículo científico publicado el 17 de febrero de 1998

Albumin Hawkes Bay; a low level variant caused by loss of a sulphydryl group at position 177

scientific article published on 01 August 1993

Albumin Rugby Park: a truncated albumin variant caused by a G-->C splice-site mutation in intron 13

artículo científico publicado el 13 de octubre de 1992

Albumin banks peninsula: a new termination variant characterised by electrospray mass spectrometry

artículo científico publicado en 1999

Amino acid sequence of atrial natriuretic peptides in human coronary sinus plasma

artículo científico publicado en 1987

An SRLLR motif downstream of the scissile bond enhances enterokinase cleavage efficiency

artículo científico publicado en 2006

An intronic mutation within FGB (IVS1+2076 a-->g) is associated with afibrinogenemia and recurrent transient ischemic attacks

scientific article published on 01 February 2006

Apolipoprotein E variation in patients with hyperlipidaemia: DNA and protein phenotyping

scientific article published on 01 October 1989

Benign substitution (Aα289 Arg→Gln) in the αC region of human fibrinogen

artículo científico publicado en 2010

Beta 141 Leu is not deleted in the unstable haemoglobin Atlanta-Coventry but is replaced by a novel amino acid of mass 129 daltons

artículo científico publicado en 1992

Bisalbuminaemia due to novel mutation at a critical residue involved in recycling; Albumin Lyon (510His→Arg)

artículo científico publicado en 2016

Calcium-dependent KEX2-like protease found in hepatic secretory vesicles converts proalbumin to albumin

artículo científico publicado en 1988

Characterisation of Fibrinogen Oslo IV by electrospray mass spectrometry.

artículo científico publicado en 1997

Characterisation of a slow component of normal human serum albumin

scientific article published on 01 August 1988

Characterization of Hb Aalborg, a new unstable hemoglobin variant, by fast atom bombardment mass spectrometry

artículo científico publicado en 1990

Characterization of non-covalent oligomers of proteins treated with hypochlorous acid

artículo científico publicado en 2003

Characterization of the oxidation products of the reaction between reduced glutathione and hypochlorous acid ⬇️

artículo científico publicado el 15 de agosto de 1997

Circulating proalbumin associated with a variant proteinase inhibitor

artículo científico publicado en 1984

Cleavage and inactivation of alpha 1-antitrypsin by metalloproteinases released from neutrophils

artículo científico publicado en 1988

Comparison of the Molecular Forms of the Kex2/Subtilisin‐Like Serine Proteases SPC2, SPC3, and Furin in Neuroendocrine Secretory Vesicles Reveals Differences in Carboxyl‐Terminus Truncation and Membrane Association ⬇️

artículo científico publicado el 1 de noviembre de 1995

Congenital hypodysfibrinogenaemia (Fibrinogen Des Moines) due to a gamma320Asp deletion at the Ca2+ binding site

scientific article published on 01 August 2007

Conjugation of urate-derived electrophiles to proteins during normal metabolism and inflammation

scientific article published in Journal of Biological Chemistry

Deciphering a macro-troponin I complex; a case report

artículo científico publicado en 2016

Defective fibrinogen polymerization associated with a novel gamma279Ala-->Asp mutation

artículo científico publicado en 2000

Degradation of human adrenomedullin(1-52) by plasma membrane enzymes and identification of metabolites

artículo científico publicado en 1997

Deletion of five residues from the coiled coil of fibrinogen (Bbeta Asn167_Glu171del) associated with bleeding and hypodysfibrinogenemia

artículo científico publicado en 2009

Demonstration of heterodimeric fibrinogen molecules partially conjugated with albumin in a novel dysfibrinogen: fibrinogen Mannheim V.

artículo científico publicado en 2009

Direct analysis of VLDL by TOF-MS allows rapid definition of Apo E genotypes and facilitates characterisation of post translational changes

artículo científico publicado en 2016

Double complex mutations involving F8 and FUNDC2 caused by distinct break-induced replication

artículo científico publicado en 2007

Dysfibrinogenemia (fibrinogen Wilmington) due to a novel Aalpha chain truncation causing decreased plasma expression and impaired fibrin polymerisation

artículo científico publicado en 2006

Effect of genetic variation on the fatty acid-binding properties of human serum albumin and proalbumin ⬇️

artículo científico publicado el 17 de octubre de 1997

Electrospray ionisation mass spectrometry facilitates detection of fibrinogen (Bbeta 14 Arg --> Cys) mutation in a family with thrombosis

artículo científico publicado el 1 de diciembre de 1997

Electrospray ionization mass spectrometry identification of fibrinogen Banks Peninsula (gamma280Tyr-->Cys): a new variant with defective polymerization

artículo científico publicado en 1998

Endopeptidase-24.11 in human plasma degrades atrial natriuretic factor (ANF) to ANF(99-105/106-126)

artículo científico publicado en 1989

Endoproteases other than furin have a role in hepatic proprotein processing ⬇️

artículo científico publicado el 1 de septiembre de 1997

Endoproteolytic processing of recombinant proalbumin variants by the yeast Kex2 protease.

artículo científico publicado en 1995

Epigenetic, polymorphic and mutational (Αα167Arg→Lys) contribution to a functionally abnormal fibrinogen

artículo científico publicado en 2011

Expression of four mutant fibrinogen gammaC domains in Pichia pastoris confirms them as causes of hypofibrinogenaemia

scientific article published on 16 May 2010

Familial dysalbuminaemic hyperthyroxinaemia: a rapid and novel mass spectrometry approach to diagnosis

artículo científico

Familial hypodysfibrinogenaemia associated with second occurrence of gamma326 Cys-->Tyr mutation

artículo científico publicado en 2005

Familial hypofibrinogenaemia associated with heterozygous substitution of a conserved arginine residue; Bbeta255 Arg-->His (Fibrinogen Merivale).

artículo científico publicado en 2003

Fibrinogen B beta polymorphisms do not directly contribute to an altered in vitro clot structure in humans

artículo científico publicado en 2003

Fibrinogen Columbus: a novel gamma Gly200Val mutation causing hypofibrinogenemia in a family with associated thrombophilia

artículo científico publicado en 2007

Fibrinogen Darlinghurst: hypofibrinogenaemia caused by a W253G mutation in the gamma chain in a patient with both bleeding and thrombotic complications

artículo científico publicado en 2006

Fibrinogen Foxton: a novel BbetaA277V mutation causing low normal plasma fibrinogen concentration

scientific article published on 01 October 2008

Fibrinogen Hillsborough: a novel gammaGly309Asp dysfibrinogen with impaired clotting.

artículo científico publicado en 2002

Fibrinogen Kaiserslautern (γ 380 Lys to Asn): a new glycosylated fibrinogen variant with delayed polymerization ⬇️

artículo científico publicado el 1 de diciembre de 1997

Fibrinogen Leipzig II (gamma351Gly-->Ser and gamma82Ala-->Gly): hypodysfibrinogenaemia due to two independent amino acid substitutions within the same polypeptide chain

artículo científico publicado en 2007

Fibrinogen Lincoln: a new truncated alpha chain variant with delayed clotting

scientific article published on 01 April 1996

Fibrinogen Mannheim II: a novel gamma307 His-->Tyr substitution in the gammaD domain causes hypofibrinogenemia.

artículo científico publicado en 2004

Fibrinogen Montreal: a novel missense mutation (Aa D496N) associated with hypofibrinogenaemia

artículo científico publicado en 2006

Fibrinogen Nottingham II: a novel Bbeta Arg264gly substitution causing hypofibrinogenaemia

artículo científico publicado en 2006

Fibrinogen Otago: a major alpha chain truncation associated with severe hypofibrinogenaemia and recurrent miscarriage

artículo científico publicado en 1997

Fibrinogen Saint-Germain II: hypofibrinogenemia due to heterozygous gamma N345S mutation

scientific article published on 01 November 2005

Fibrinogen Tolaga Bay: a novel gammaAla341Val mutation causing hypofibrinogenaemia

artículo científico publicado en 2007

Fibrinogen brescia: hepatic endoplasmic reticulum storage and hypofibrinogenemia because of a gamma284 Gly-->Arg mutation

artículo científico publicado en 2000

Four novel polymorphisms in the fibrinogen Aalpha gene

artículo científico publicado en 2002

Functional abnormality of proalbumin Christchurch

scientific article published on 01 January 1980

Functional antithrombin-III variant (41 Pro----Leu) identified by liquid secondary ion mass spectrometry

artículo científico publicado en 1991

Genetic and immunological characterization of fibrinogen inclusion bodies in patients with hepatic fibrinogen storage and liver disease

scientific article published on 01 January 2001

Haemoglobin F Melbourne Ggamma 16 Gly leads to Arg and haemoglobin F carlton Ggamma 121 Glu leads to Lys. Further evidence for varied activity of gamma-chain genes

artículo científico publicado el 22 de febrero de 1977

Haemoglobin Manukau beta 67[E11] Val-->Gly: transfusion-dependent haemolytic anaemia ameliorated by coexisting alpha thalassaemia

artículo científico publicado en 1993

Haemoglobin Marseille-Long Island and interpretation of HbA1c: which HbA1c result is the “right answer”? ⬇️

artículo científico publicado el 1 de marzo de 2003

Haemoglobin North Shore, beta134 Val replaced by Glu, a new unstable haemoglobin

artículo científico publicado en 1977

Hb Amsterdam-A1 [α32(B13)Met→Ile; HBA1: c.99G>A]: A Hyperunstable Variant Due to a New Mutation on the α1 Gene

artículo científico publicado en 2017

Hb Ashburton [β12(A9)Thr → Pro; HBB: c.37A > C], a novel, mildly unstable variant and the first substitution identified at codon 12

scientific article published on 29 January 2014

Hb Brisbane (beta 68 (E12) Leu replaced by His) is unstable

artículo científico publicado en 1983

Hb Canterbury [beta112(G14)Cys-->Phe]: a new, mildly unstable variant

artículo científico publicado en 2002

Hb J-Camasuey [α141(HC3)ARG→GLY] Associated with α-Thalassemia-1 in an Australian Family ⬇️

artículo científico publicado el 1 de enero de 1991

Hb Koya Dora [alpha142, Term-->Ser (TAA>TCA in alpha2)]: a rare mutation of the alpha2 gene stop codon associated with alpha-thalassemia

artículo científico publicado en 2010

Hb Lusaka [alpha131(H14)Ser-->phe (alpha1)]: a new variant found in a woman heterozygous for Hb S [beta6(A3)G1u-->Val]

artículo científico publicado en 2003

Hb Manawatu [alpha 37(C2)Pro-->Leu]: a new mildly unstable mutation at an invariant proline residue

artículo científico publicado en 2002

Hb Papanui [α99(G8)Lys→Arg; HBA2: c.299A>G]: a novel silent substitution interfering in Hb A1c determination

artículo científico publicado en 2013

Hb Perpignan [beta136(H14)Gly-->Ser], a silent variant associated with normal hematology

artículo científico publicado en 2010

Hb riccarton [alpha51(CE9)Gly-->Ser]: a variant arising from a novel mutation in the alpha1 gene

artículo científico publicado en 2005

Hb taradale [beta82(EF6)Lys-->Arg]: a novel mutation at a 2,3-diphosphoglycerate binding site

artículo científico publicado en 2005

HbA2 Victoria delta 24 (B6) Gly----Asp. A new delta chain variant occurring with beta-thalassemia

artículo científico publicado en 1984

Hemoglobin A2 Fitzroy delta 142 Ala----Asp: a new delta-chain variant

artículo científico publicado en 1984

Hemoglobin Brisbane: beta68 Leu replaced by His. A new high oxygen affinity variant

artículo científico publicado en 1981

Hemoglobin Collingwood beta 60 (E4) Val replaced by Ala. A new unstable hemoglobin

scientific article published on 01 January 1983

Hemoglobin Hagley Park: a novel (alpha82Ala-->Thr) substitution identified in an infant with severe hemolytic anemia

artículo científico publicado en 2007

Hemoglobin I High Wycombe in an Australian family

artículo científico publicado en 1987

Hemoglobin Palmerston North beta 23 (B5) Val replaced by Phe. A new variant identified in a patient with polycythemia

scientific article published on 01 January 1982

Hemoglobin Summer Hill beta 52(D3) Asp leads to His a new variant from Sydney, Australia

scientific article published on 01 January 1980

Hemoglobin Volga, beta 27 (B9) Ala replaced by Asp: functional and clinical correlations of an unstable hemoglobin

artículo científico publicado en 1980

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

article

Homozygous truncation of the fibrinogen A alpha chain within the coiled coil causes congenital afibrinogenemia

artículo científico publicado en 2000

Hormone binding to natural mutants of human serum albumin

artículo científico publicado en 1990

Human alpha 1-antitrypsin: carbohydrate attachment and sequence homology

artículo científico publicado en 1981

Hypofibrinogenaemia associated with a novel heterozygous gamma289 Ala -->Val substitution (fibrinogen Dorfen)

scientific article published on 01 December 2004

Hypofibrinogenaemia associated with common gamma82Ala-->Gly mutation is not mediated by altered mRNA splicing

artículo científico publicado en 2006

Hypofibrinogenaemia resulting from novel single nucleotide deletion at codon Bbeta58 (3404del A) associated with thrombotic stroke in infancy

scientific article published on 01 April 2006

Hypofibrinogenaemia with compound heterozygosity for two gamma chain mutations - gamma 82 Ala-->Gly and an intron two GT-->AT splice site mutation

artículo científico publicado en 2000

Hypofibrinogenemia due to novel 316 Asp --> Tyr substitution in the fibrinogen Bbeta chain

scientific article published on 01 March 2001

Hypofibrinogenemia in an individual with 2 coding (gamma82 A-->G and Bbeta235 P-->L) and 2 noncoding mutations

scientific article published on 01 March 2000

Identification and characterization of five new fibrinogen gene polymorphisms

artículo científico publicado en 2001

Identification of a calcium-dependent microsomal proteinase responsible for monobasic cleavage of chicken proalbumin

artículo científico publicado en 1989

Isolation of High Oxygen Affinity Hfmoclobins ⬇️

artículo científico publicado el 1 de enero de 1977

Ligand-binding properties of proalbumin Christchurch

artículo científico publicado en 1980

Low expression of truncated Aalpha chain variant in circulating fibrinogen

artículo científico publicado en 2002

Lungfish albumin is more similar to tetrapod than to teleost albumins: Purification and characterisation of albumin from the Australian lungfish, Neoceratodus forsteri

article

Molecular mechanisms of hypo- and afibrinogenemia

artículo científico publicado en 2001

Mutant fibrinogen cleared from the endoplasmic reticulum via endoplasmic reticulum-associated protein degradation and autophagy: an explanation for liver disease

artículo científico publicado en 2006

New carbohydrate site in mutant antithrombin (7 Ile----Asn) with decreased heparin affinity

artículo científico publicado en 1988

New fibrinogen substitution (gammaSer313Arg) causes diminished gamma chain expression and hypodysfibrinogenaemia

artículo científico publicado en 2009

Novel Aalpha chain truncation (fibrinogen Perth) resulting in low expression and impaired fibrinogen polymerization

artículo científico publicado en 2003

Novel fibrinogen Aalpha chain mutation associated with afibrinogenaemia

artículo científico publicado en 2007

Novel fibrinogen Bbeta gene mutation causing hypofibrinogenaemia

artículo científico publicado en 2002

Novel fibrinogen gamma375 Arg-->Trp mutation (fibrinogen aguadilla) causes hepatic endoplasmic reticulum storage and hypofibrinogenemia

artículo científico publicado en 2002

Novel fibrinogen mutation (gamma 313 Ser-->Asn) associated with hypofibrinogenemia in two unrelated families

artículo científico publicado en 2006

Novel fibrinogen mutation γ314Thr→Pro (fibrinogen AI duPont) associated with hepatic fibrinogen storage disease and hypofibrinogenaemia

artículo científico publicado en 2010

Novel fibrinogen truncation with deletion of Bbeta chain residues 440-461 causes hypofibrinogenaemia

scientific article published on 01 September 2002

Novel frameshift in the serum albumin gene results in analbuminemia through premature truncation and post translational modification

artículo científico publicado en 2008

Novel gamma230 Asn-->Asp substitution in fibrinogen Middlemore associated hypofibrinogenaemia

artículo científico publicado en 2005

Novel haemoglobin mutation (α127Lys→Glu) increases oxygen affinity and has a minor effect on haptoglobin binding

artículo científico publicado en 2012

Novel hemoglobin (Hb Grey Lynn) substitution (alpha91Leu --> Phe) affects heme interactions and alpha1beta2 contacts

scientific article published on 01 May 2007

Novel hemoglobin alpha chain elongation resulting from a 15-residue insertion and tandem duplication of the F helix

artículo científico publicado en 2008

Novel human proalbumin variant with intact dibasic sequence facilitates identification of its converting enzyme

artículo científico publicado en 1989

Novel sequence insertion in a Mâori patient with transfusion-dependent beta-thalassaemia

artículo científico publicado en 2005

Novel silent albumin variant (191Ala→Thr) detected by TOF MS of whole plasma

scientific article published on 07 November 2014

Novel α2 Gene Deletion (c.349_359 del GAGTTCACCCC) Identified in Association with the –α3.7Deletion ⬇️

artículo científico publicado el 28 de noviembre de 2011

Oligosaccharide configuration of fibrinogen Kaiserslautern: electrospray ionisation analysis of intact gamma chains

artículo científico publicado el 1 de agosto de 1998

Physiological variant of antithrombin-III lacks carbohydrate sidechain at Asn 135.

artículo científico publicado en 1987

Posttranslational modification of beta 141 Leu associated with the beta 75(E19)Leu-->Pro mutation in Hb Atlanta

scientific article published on 01 February 1993

Preparation of recombinant thioredoxin fused N-terminal proCNP: Analysis of enterokinase cleavage products reveals new enterokinase cleavage sites.

artículo científico publicado en 2005

Rapid detection of the fibrinogen A alpha 16Arg --> His mutation ⬇️

artículo científico publicado el 1 de noviembre de 1997

Relative quantification of albumin and fibrinogen modifications by liquid chromatography tandem mass spectrometry in the diagnosis and monitoring of acute pancreatitis

artículo científico publicado en 2015

Severe hypodysfibrinogenemia in compound heterozygotes of the fibrinogen AalphaIVS4 + 1G>T mutation and an AalphaGln328 truncation (fibrinogen Keokuk).

artículo científico publicado en 2003

Specificity of yeast KEX2 protease for variant human proalbumins is identical to the in vivo specificity of the hepatic proalbumin convertase

artículo científico publicado en 1990

Structural characterization of a glycoprotein variant of human serum albumin: albumin Casebrook (494 Asp----Asn)

scientific article published on 01 July 1991

Substitution (γ335Trp→Arg) in fibrinogen Fremantle causes diminished γ chain expression and increased sialic acid content

scientific article published on 13 September 2010

The Albumins of Chinook Salmon (Oncorhynchus tshawytscha) and Brown Trout (Salmo trutta) Appear to Lack a Propeptide

artículo científico publicado en 1998

The Antarctic toothfish (Dissostichus mawsoni) lacks plasma albumin and utilises high density lipoprotein as its major palmitate binding protein

scientific article published in 1999

The Mγ chain of human fetal hemoglobin is an Aγ chain with an in vitro modification of γ141 leucine to hydroxyleucine ⬇️

artículo científico publicado el 23 de julio de 1993

The abnormality of the S variant of human α-1-antitrypsin ⬇️

artículo científico publicado el 26 de noviembre de 1976

The albumin of the brown trout (Salmo trutta) is a glycoprotein

artículo científico publicado el 28 de julio de 1998

The amino acid sequence of tryptic peptides of sheep heart phosphofructokinase

1974 doctoral thesis by Stephen Oliver Brennan at Massey University

The molecular mechanisms of congenital hypofibrinogenaemia

artículo científico publicado en 2004

The predicted proteinase furin is not the hepatic proalbumin convertase

artículo científico publicado en 1992

The reactive site of alpha 1-antitrypsin is C-terminal, not N-terminal

artículo científico publicado en 1983

The sialic acid content of fibrinogen decreases during pregnancy and increases in response to fibrate therapy

artículo científico publicado en 2005

The specificity of the neuroendocrine convertase PC3 is determined by residues NH2- and COOH-terminal to the cleavage site

scientific article published on 01 August 1996

Three truncated forms of serum albumin associated with pancreatic pseudocyst

scientific article published on 01 September 2000

Two de novo mutations in one beta globin chain: hemoglobin Atlanta-Coventry, beta 75 Leu----Pro and beta 141 Leu deleted

artículo científico publicado en 1986

Two novel mutations at contiguous codons in the fibrinogen Bbeta chain associated with hypofibrinogenaemia

artículo científico publicado en 2009

Two unstable hemoglobins in one individual: Hb Atlanta (beta 75 Leu leads to Pro) and Hb Coventry (beta 141 Leu deleted)

artículo científico publicado en 1983

Unique albumin with two silent substitutions (540Thr→Ala and 546Ala→Ser): Insights into how albumin is recycled

artículo científico publicado en 2016

Using serum albumin to infer vertebrate phylogenies.

artículo científico publicado en 2003

Yeast KEX2 protease has the properties of a human proalbumin converting enzyme

artículo científico publicado en 1987

Yeast aspartic protease 3 (Yap3) prefers substrates with basic residues in the P2, P1 and P2' positions

artículo científico publicado en 1996

alpha 1-Antitrypsin Christchurch, 363 Glu----Lys: mutation at the P'5 position does not affect inhibitory activity

artículo científico publicado en 1986

β37Trp→Cys mutation leads to multiple new hemoglobin species in red cells ⬇️

artículo científico publicado el 19 de diciembre de 2011

γ371 Thr→Ile substitution in the fibrinogen γD domain causes hypofibrinogenaemia ⬇️

artículo científico publicado el 17 de diciembre de 2001

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