Compounds > cystine

cystine and Bernard-Soulier Syndrome

cystine has been researched along with Bernard-Soulier Syndrome in 3 studies

Research

Studies (3)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's2 (66.67)29.6817
2010's1 (33.33)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Imamura, Y; Kanaji, T; Moroi, M; Nakazato, S; Okamura, T; Sano, M; Seki, R; Sueoka, E; Takata, Y1
Alonso, S; Ayuso, MS; Butta, N; González-Manchón, C; Iruín, G; Parrilla, R1
Deckmyn, H; Delville, JP; Handsaeme, J; Pradier, O; Schlammadinger, A; Vandecasteele, G; Vanhoorelbeke, K; Vauterin, S; Wijns, W1

Other Studies

3 other study(ies) available for cystine and Bernard-Soulier Syndrome

ArticleYear
Platelets with a W127X mutation in GPIX express sufficient residual amounts of GPIbα to support adhesion to von Willebrand factor and collagen.
    International journal of hematology, 2012, Volume: 96, Issue:6

    Topics: Adult; Animals; Antibodies, Monoclonal; Bernard-Soulier Syndrome; Blood Platelets; CHO Cells; Codon, Nonsense; Collagen Type III; Cricetinae; Cystine; Diagnostic Errors; Female; Humans; Membrane Glycoproteins; Phenotype; Platelet Adhesiveness; Platelet Glycoprotein GPIb-IX Complex; Point Mutation; Pregnancy; Pregnancy Complications, Hematologic; Purpura, Thrombocytopenic, Idiopathic; Recombinant Fusion Proteins; Ristocetin; Transfection; von Willebrand Factor

2012
Disruption of the Cys5-Cys7 disulfide bridge in the platelet glycoprotein Ibbeta prevents the normal maturation and surface exposure of GPIb-IX complexes.
    Thrombosis and haemostasis, 2003, Volume: 90, Issue:3

    Topics: Adult; Bernard-Soulier Syndrome; Cystine; Disulfides; Family Health; Female; Homozygote; Humans; Male; Platelet Glycoprotein GPIb-IX Complex; Point Mutation; Protein Folding; Protein Structure, Tertiary; Protein Transport; Siblings

2003
Occurrence of the Asn45Ser mutation in the GPIX gene in a Belgian patient with Bernard Soulier syndrome.
    Platelets, 2001, Volume: 12, Issue:2

    Topics: Adenosine Diphosphate; Adult; Amino Acid Substitution; Belgium; Bernard-Soulier Syndrome; Blotting, Western; Cystine; DNA Mutational Analysis; Ethnicity; Europe; Female; Gene Frequency; Humans; Mutation, Missense; Platelet Activation; Platelet Glycoprotein GPIb-IX Complex; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length; Protein Conformation; Proteins; Receptors, Thrombin

2001