Compounds > cysteine

cysteine and Angiohemophilia

cysteine has been researched along with Angiohemophilia in 22 studies

Research

Studies (22)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's6 (27.27)18.2507
2000's10 (45.45)29.6817
2010's5 (22.73)24.3611
2020's1 (4.55)2.80

Authors

AuthorsStudies
Brown, C; Carcao, MD; Hossain, T; James, PD; Klaassen, R; Lillicrap, D; Nesbitt, K; Rand, M; Rawley, O; Swystun, LL1
Benoit, M; Brehm, MA; Budde, U; König, G; Löf, A; Müller, JP; Schneppenheim, R; Schneppenheim, S1
Battiston, M; Casarin, E; Casonato, A; Cattini, MG; Daidone, V; De Marco, L; Morpurgo, M; Pontara, E; Saga, G1
Biswas, A; Driesen, J; Ivaskevicius, V; Klamroth, R; Oldenburg, J; Pavlova, A; Yadegari, H1
Barbon, G; Casonato, A; Cattini, GM; Daidone, V; Gallinaro, L; Pizzo, P; Pontara, E; Zampese, E1
Cosemans, G; Dirven, RJ; Eikenboom, J; Groeneveld, DJ; Reitsma, PH; Valentijn, KM; Voorberg, J; Wang, JW1
Bertina, RM; Castaman, G; Eikenboom, JC; Tjernberg, P; Vos, HL1
Bolton-Maggs, PH; Bowen, DJ; Collins, PW; Cumming, AM; Enayat, SM; Grundy, P; Hill, FG; Keeling, DM; Keeney, S; Khair, K; Lester, W; Pasi, KJ; Tait, RC; Wilde, JT1
Berg, HM; Bertina, RM; Castaman, G; Denis, CV; Eikenboom, JC; Hollestelle, MJ; Lenting, PJ; Mourik, JA; Schooten, CJ; Terraube, V; Tjernberg, P; Vos, HL; Westein, E1
Fressinaud, E; Girma, JP; Hommais, A; Mazurier, C; Meyer, D; Ribba, AS; Stépanian, A1
Bowen, DJ; Collins, PW1
Bertina, RM; Eikenboom, JC; Luken, BM; Spaargaren-van Riel, CC; Tjernberg, P; Voorberg, J; Vos, HL1
Battiston, M; Casonato, A; De Marco, L; Gallinaro, L; Mazzuccato, M; Pagnan, A; Ruggeri, ZM; Sztukowska, M1
Bowen, DJ; Collins, PW; Grundy, P; Keeney, S1
Harrison, P; Inbal, A; Kornbrot, N; Randi, AM; Sadler, JE1
Berntorp, E; Dahlbäck, B; Donnér, M; Holmberg, L; Kristoffersson, AC; Nilsson, IM; Scheibel, E; Thorsen, S1
Dechavanne, M; Gaucher, C; Hanss, M; Mazurier, C1
Briët, E; Castaman, G; Eikenboom, JC; Matsushita, T; Reitsma, PH; Sadler, JE; Tuley, EA1
Bodó, I; Dong, Z; Eikenboom, JC; Katsumi, A; Sadler, JE; Tuley, EA1
Fressinaud, E; Mazurier, C; Meyer, D1
Bahnak, BR; De Paillette, L; Fressinaud, E; Lavergne, JM; Meyer, D; Pietu, G; Ribba, AS1
Andersson, AM; Dahlbäck, B; Donnér, M; Holmberg, L; Kristoffersson, AC; Nilsson, IM1

Reviews

2 review(s) available for cysteine and Angiohemophilia

ArticleYear
Insights into von Willebrand factor proteolysis: clinical implications.
    British journal of haematology, 2006, Volume: 133, Issue:5

    Topics: ABO Blood-Group System; ADAM Proteins; ADAMTS13 Protein; Amino Acids; Cysteine; Humans; Hydrolysis; Ligands; Models, Biological; Mutation; Polymorphism, Genetic; Purpura, Thrombotic Thrombocytopenic; Tyrosine; von Willebrand Diseases; von Willebrand Factor

2006
Molecular genetics of type 2 von Willebrand disease.
    International journal of hematology, 2002, Volume: 75, Issue:1

    Topics: Adult; Amino Acid Substitution; Biopolymers; Blood Platelets; Chromosomes, Human, Pair 12; Collagen; Cysteine; DNA Mutational Analysis; Exocytosis; Exons; Female; Genes, Dominant; Genes, Recessive; Hemophilia A; Hemorrhagic Disorders; Humans; Infant, Newborn; Male; Molecular Weight; Mutation, Missense; Platelet Adhesiveness; Platelet Glycoprotein GPIb-IX Complex; Pregnancy; Pregnancy Complications, Hematologic; Protein Binding; Protein Precursors; Protein Processing, Post-Translational; Protein Structure, Tertiary; Structure-Activity Relationship; Thrombocytopenia; von Willebrand Diseases; von Willebrand Factor

2002

Other Studies

20 other study(ies) available for cysteine and Angiohemophilia

ArticleYear
Novel cysteine substitution p.(Cys1084Tyr) causes variable expressivity of qualitative and quantitative VWF defects.
    Blood advances, 2022, 05-10, Volume: 6, Issue:9

    Topics: Animals; Cysteine; Disulfides; Mice; von Willebrand Disease, Type 2; von Willebrand Diseases; von Willebrand Factor

2022
Advancing multimer analysis of von Willebrand factor by single-molecule AFM imaging.
    PloS one, 2019, Volume: 14, Issue:1

    Topics: Amino Acid Substitution; Cysteine; Dimerization; HEK293 Cells; Humans; Microscopy, Atomic Force; Models, Molecular; Mutant Proteins; Mutation, Missense; Particle Size; Protein Multimerization; Recombinant Proteins; Single Molecule Imaging; von Willebrand Diseases; von Willebrand Factor

2019
C2362F mutation gives rise to an ADAMTS13-resistant von Willebrand factor.
    Thrombosis and haemostasis, 2013, Volume: 109, Issue:6

    Topics: ADAM Proteins; ADAMTS13 Protein; Binding Sites; Biotinylation; Cysteine; Dose-Response Relationship, Drug; Family Health; Female; Hemostasis; Homozygote; Humans; Male; Mutation; Protein Binding; Protein Structure, Tertiary; Recombinant Proteins; von Willebrand Diseases; von Willebrand Factor

2013
Insights into pathological mechanisms of missense mutations in C-terminal domains of von Willebrand factor causing qualitative or quantitative von Willebrand disease.
    Haematologica, 2013, Volume: 98, Issue:8

    Topics: Adolescent; Adult; Aged; Cysteine; Female; HEK293 Cells; Humans; Male; Middle Aged; Mutation, Missense; Protein Structure, Secondary; Protein Structure, Tertiary; von Willebrand Diseases; von Willebrand Factor; Young Adult

2013
Loss of cysteine 584 impairs the storage and release, but not the synthesis of von Willebrand factor.
    Thrombosis and haemostasis, 2014, Volume: 112, Issue:6

    Topics: Adult; Aged; Amino Acid Substitution; Culture Media, Conditioned; Cysteine; DNA Mutational Analysis; Endoplasmic Reticulum; Female; Genetic Predisposition to Disease; Golgi Apparatus; HEK293 Cells; Hemostasis; Humans; Male; Mutation, Missense; Phenotype; Phenylalanine; Protein Multimerization; Protein Transport; Transfection; von Willebrand Diseases; von Willebrand Factor; Weibel-Palade Bodies

2014
Biogenesis of Weibel-Palade bodies in von Willebrand's disease variants with impaired von Willebrand factor intrachain or interchain disulfide bond formation.
    Haematologica, 2012, Volume: 97, Issue:6

    Topics: Cysteine; Disulfides; Endoplasmic Reticulum; HEK293 Cells; Humans; Models, Biological; Mutation; Plasmids; Protein Conformation; Protein Folding; Protein Multimerization; Protein Subunits; Serine; Transfection; Tyrosine; von Willebrand Diseases; von Willebrand Factor; Weibel-Palade Bodies

2012
Dimerization and multimerization defects of von Willebrand factor due to mutated cysteine residues.
    Journal of thrombosis and haemostasis : JTH, 2004, Volume: 2, Issue:2

    Topics: Binding Sites; Cell Line; Cysteine; Dimerization; Humans; Mutation, Missense; Protein Binding; Transfection; von Willebrand Diseases; von Willebrand Factor

2004
The prevalence of the cysteine1584 variant of von Willebrand factor is increased in type 1 von Willebrand disease: co-segregation with increased susceptibility to ADAMTS13 proteolysis but not clinical phenotype.
    British journal of haematology, 2005, Volume: 128, Issue:6

    Topics: ABO Blood-Group System; ADAM Proteins; ADAMTS13 Protein; Cohort Studies; Cysteine; Enzyme-Linked Immunosorbent Assay; Female; Genetic Predisposition to Disease; Heterozygote; Humans; Male; Metalloendopeptidases; Pedigree; Phenotype; Polymorphism, Genetic; von Willebrand Diseases

2005
Cysteine-mutations in von Willebrand factor associated with increased clearance.
    Journal of thrombosis and haemostasis : JTH, 2005, Volume: 3, Issue:10

    Topics: ADAMTS13 Protein; Animals; Cysteine; Deamino Arginine Vasopressin; Humans; Metabolism; Metalloendopeptidases; Mice; Mice, Knockout; Mutation, Missense; Recombinant Proteins; von Willebrand Diseases; von Willebrand Factor

2005
Mutations C1157F and C1234W of von Willebrand factor cause intracellular retention with defective multimerization and secretion.
    Journal of thrombosis and haemostasis : JTH, 2006, Volume: 4, Issue:1

    Topics: Adolescent; Adult; Animals; Chlorocebus aethiops; COS Cells; Cysteine; Dimerization; Endothelial Cells; Factor VIII; Family Health; Golgi Apparatus; Humans; Middle Aged; Molecular Weight; Mutation, Missense; Protein Folding; Transduction, Genetic; von Willebrand Diseases; von Willebrand Factor

2006
Differential effects of the loss of intrachain- versus interchain-disulfide bonds in the cystine-knot domain of von Willebrand factor on the clinical phenotype of von Willebrand disease.
    Thrombosis and haemostasis, 2006, Volume: 96, Issue:6

    Topics: ADAM Proteins; ADAMTS13 Protein; Blood Coagulation; Cell Line; Cysteine; Cystine Knot Motifs; Dimerization; Disulfides; DNA Mutational Analysis; Electrophoresis, Polyacrylamide Gel; Female; Humans; Male; Mutation, Missense; Pedigree; Phenotype; Protein Conformation; Protein Processing, Post-Translational; Transfection; von Willebrand Diseases; von Willebrand Factor

2006
Altered von Willebrand factor subunit proteolysis and multimer processing associated with the Cys2362Phe mutation in the B2 domain.
    Thrombosis and haemostasis, 2007, Volume: 97, Issue:4

    Topics: ADAM Proteins; ADAMTS13 Protein; Adult; Blood Coagulation Tests; Cysteine; Female; Heterozygote; Homozygote; Humans; Molecular Weight; Mutation, Missense; Pedigree; Phenotype; Phenylalanine; Protein Conformation; Protein Processing, Post-Translational; Protein Structure, Tertiary; Protein Subunits; Severity of Illness Index; von Willebrand Diseases; von Willebrand Factor

2007
C1584 in von Willebrand factor is necessary for enhanced proteolysis by ADAMTS13 in vitro.
    Haemophilia : the official journal of the World Federation of Hemophilia, 2007, Volume: 13, Issue:4

    Topics: ADAM Proteins; ADAMTS13 Protein; Cysteine; Female; Heterozygote; Homozygote; Humans; Male; Pedigree; Polymorphism, Genetic; von Willebrand Diseases; von Willebrand Factor

2007
Effect of type IIB von Willebrand disease mutation Arg(545)Cys on platelet glycoprotein Ib binding--studies with recombinant von Willebrand factor.
    Thrombosis and haemostasis, 1993, Dec-20, Volume: 70, Issue:6

    Topics: Arginine; Base Sequence; Blood Platelets; Cysteine; Humans; Molecular Sequence Data; Mutation; Platelet Membrane Glycoproteins; Recombinant Proteins; Ristocetin; von Willebrand Diseases; von Willebrand Factor

1993
Two new candidate mutations in type IIA von Willebrand's disease (Arg834-->Gly, Gly846-->Arg) and one polymorphism (Tyr821-->Cys) in the A2 region of the von Willebrand factor.
    European journal of haematology, 1993, Volume: 51, Issue:1

    Topics: Adolescent; Adult; Alleles; Amino Acid Sequence; Arginine; Base Sequence; Child; Cysteine; DNA; Female; Genetic Markers; Glycine; Humans; Male; Molecular Sequence Data; Oligodeoxyribonucleotides; Pedigree; Point Mutation; Polymerase Chain Reaction; Polymorphism, Genetic; Tyrosine; von Willebrand Diseases; von Willebrand Factor

1993
Substitution of cysteine for phenylalanine 751 in mature von Willebrand factor is a novel candidate mutation in a family with type IIA von Willebrand disease.
    British journal of haematology, 1993, Volume: 83, Issue:1

    Topics: Cysteine; Exons; Genotype; Humans; Mutation; Pedigree; Phenotype; Phenylalanine; Polymerase Chain Reaction; Polymorphism, Genetic; von Willebrand Diseases; von Willebrand Factor

1993
Dominant type 1 von Willebrand disease caused by mutated cysteine residues in the D3 domain of von Willebrand factor.
    Blood, 1996, Oct-01, Volume: 88, Issue:7

    Topics: Alleles; Biological Transport; Blood Platelets; Cell Line; Cloning, Molecular; Cysteine; DNA Mutational Analysis; Endoplasmic Reticulum; Female; Genes, Dominant; Haplotypes; Heterozygote; Humans; Male; Pedigree; Point Mutation; Protein Structure, Tertiary; Pseudogenes; Recombinant Fusion Proteins; RNA, Messenger; Sequence Homology, Nucleic Acid; von Willebrand Diseases; von Willebrand Factor

1996
Type 1 von Willebrand disease mutation Cys1149Arg causes intracellular retention and degradation of heterodimers: a possible general mechanism for dominant mutations of oligomeric proteins.
    Blood, 2001, Nov-15, Volume: 98, Issue:10

    Topics: Amino Acid Substitution; Animals; Cell Line; Chlorocebus aethiops; COS Cells; Cricetinae; Cysteine; Cysteine Endopeptidases; Cystine; Dimerization; Endoplasmic Reticulum; Genes, Dominant; Humans; Intracellular Fluid; Mesocricetus; Models, Genetic; Multienzyme Complexes; Mutation, Missense; Point Mutation; Proteasome Endopeptidase Complex; Protein Structure, Tertiary; Sequence Deletion; Transfection; von Willebrand Diseases; von Willebrand Factor

2001
Defects in type IIA von Willebrand disease: a cysteine 509 to arginine substitution in the mature von Willebrand factor disrupts a disulphide loop involved in the interaction with platelet glycoprotein Ib-IX.
    British journal of haematology, 1992, Volume: 82, Issue:1

    Topics: Arginine; Base Sequence; Cysteine; Electrophoresis, Polyacrylamide Gel; Humans; Molecular Sequence Data; Platelet Membrane Glycoproteins; Polymerase Chain Reaction; von Willebrand Diseases; von Willebrand Factor

1992
An Arg545----Cys545 substitution mutation of the von Willebrand factor in type IIB von Willebrand's disease.
    European journal of haematology, 1991, Volume: 47, Issue:5

    Topics: Adult; Aged; Arginine; Base Sequence; Codon; Cysteine; DNA Probes; Family Health; Humans; Male; Molecular Sequence Data; Mutation; von Willebrand Diseases; von Willebrand Factor

1991