leucine has been researched along with Bernard-Soulier Syndrome in 7 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 5 (71.43) | 18.2507 |
| 2000's | 2 (28.57) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Izraeli, S; Lalezari, S; Landau, M; Rosenberg, N; Seligsohn, U; Shenkman, B | 1 |
| Li, C; Martin, SE; Roth, GJ | 1 |
| Brenner, B; Clemetson, JM; Clemetson, KJ; Kyrle, PA | 1 |
| Dong, JF; López, JA; Sae-Tung, G | 1 |
| Cazenave, JP; de la Salle, C; Lanza, F | 1 |
| Baas, MJ; Briquel, ME; Cazenave, JP; Cranmer, S; de la Salle, C; Jackson, S; Lanza, F; Ravanat, C; Schwartz, A; Ulsemer, P | 1 |
| Cunningham, D; Lyle, VA; Miller, JL | 1 |
1 review(s) available for leucine and Bernard-Soulier Syndrome
| Article | Year |
|---|---|
Biochemical and molecular basis of Bernard-Soulier syndrome: a review.
Topics: Bernard-Soulier Syndrome; Humans; Leucine; Mutation; Platelet Membrane Glycoproteins; Protein Conformation; Receptors, Cell Surface; Recombinant Proteins; Repetitive Sequences, Nucleic Acid | 1995 |
6 other study(ies) available for leucine and Bernard-Soulier Syndrome
| Article | Year |
|---|---|
Trp207Gly in platelet glycoprotein Ibalpha is a novel mutation that disrupts the connection between the leucine-rich repeat domain and the disulfide loop structure and causes Bernard-Soulier syndrome.
Topics: Adolescent; Amino Acid Motifs; Bernard-Soulier Syndrome; Blood Platelets; Child; Cloning, Molecular; Crystallography, X-Ray; Female; Hemorrhage; Humans; Jews; Leucine; Mutation, Missense; Pedigree; Platelet Glycoprotein GPIb-IX Complex; Protein Folding; Protein Structure, Tertiary; Repetitive Sequences, Nucleic Acid; Thrombocytopenia | 2007 |
The genetic defect in two well-studied cases of Bernard-Soulier syndrome: a point mutation in the fifth leucine-rich repeat of platelet glycoprotein Ib alpha.
Topics: Alleles; Amino Acid Sequence; Animals; Bernard-Soulier Syndrome; Female; Humans; L Cells; Leucine; Male; Mice; Platelet Glycoprotein GPIb-IX Complex; Point Mutation; Polymerase Chain Reaction; Protein Structure, Tertiary; Repetitive Sequences, Nucleic Acid; Sequence Alignment; Sequence Homology, Amino Acid | 1995 |
Variant Bernard-Soulier syndrome associated with a homozygous mutation in the leucine-rich domain of glycoprotein IX.
Topics: Adult; Amino Acid Sequence; Asparagine; Base Sequence; Bernard-Soulier Syndrome; Blood Platelets; Blotting, Western; DNA; DNA Primers; Female; Genetic Variation; Humans; Leucine; Male; Molecular Sequence Data; Pedigree; Platelet Aggregation; Platelet Membrane Glycoproteins; Point Mutation; Polymerase Chain Reaction; Reference Values; Serine | 1994 |
Biosynthetic defect in platelet glycoprotein IX mutants associated with Bernard-Soulier syndrome.
Topics: Amino Acid Sequence; Animals; Bernard-Soulier Syndrome; CHO Cells; Cricetinae; Humans; Leucine; Macromolecular Substances; Molecular Sequence Data; Mutagenesis, Site-Directed; Platelet Membrane Glycoproteins; Point Mutation; Receptors, Cell Surface; Structure-Activity Relationship | 1996 |
Role of the leucine-rich domain of platelet GPIbalpha in correct post-translational processing--the Nancy I Bernard-Soulier mutation expressed on CHO cells.
Topics: Adolescent; Animals; Bernard-Soulier Syndrome; Binding Sites; CHO Cells; Cricetinae; Cricetulus; Glycosylation; Humans; Leucine; Male; Molecular Weight; Mutation; Peptide Fragments; Platelet Adhesiveness; Platelet Glycoprotein GPIb-IX Complex; Protein Binding; Protein Conformation; Protein Processing, Post-Translational; Protein Structure, Tertiary; Recombinant Fusion Proteins; Sequence Deletion; Structure-Activity Relationship; Tunicamycin; von Willebrand Factor | 2000 |
Mutation of leucine-57 to phenylalanine in a platelet glycoprotein Ib alpha leucine tandem repeat occurring in patients with an autosomal dominant variant of Bernard-Soulier disease.
Topics: Adolescent; Bernard-Soulier Syndrome; Blood Platelets; DNA; Electrophoresis, Polyacrylamide Gel; Humans; Leucine; Male; Mutation; Nucleic Acid Hybridization; Pedigree; Phenylalanine; Platelet Membrane Glycoproteins; Polymerase Chain Reaction; Repetitive Sequences, Nucleic Acid; Ristocetin; von Willebrand Factor | 1992 |