serine has been researched along with Angiohemophilia in 4 studies
Serine: A non-essential amino acid occurring in natural form as the L-isomer. It is synthesized from GLYCINE or THREONINE. It is involved in the biosynthesis of PURINES; PYRIMIDINES; and other amino acids.
serine : An alpha-amino acid that is alanine substituted at position 3 by a hydroxy group.
| Excerpt | Relevance | Reference |
|---|---|---|
| "Platelet-type von Willebrand disease (plt-VWD) is a congenital bleeding disorder characterized by gain-of-function mutations of GPIbalpha." | 1.32 | Identification of a novel point mutation in platelet glycoprotein Ibalpha, Gly to Ser at residue 233, in a Japanese family with platelet-type von Willebrand disease. ( Ikeda, Y; Matsubara, Y; Murata, M; Sugita, K, 2003) |
| "Phenotype IIC of von Willebrand disease (vWD) is a subtype of type 2A vWD characterized by recessive inheritance and an impaired multimerization of von Willebrand factor (vWF) molecules beyond dimers." | 1.30 | A new candidate mutation (N528S) within the von Willebrand factor propeptide identified in a Japanese patient with phenotype IIC of von Willebrand disease. ( Gaucher, C; Mashiba, H; Mazurier, C; Uno, H; Yamazaki, T, 1998) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 1 (25.00) | 18.2507 |
| 2000's | 2 (50.00) | 29.6817 |
| 2010's | 1 (25.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Wang, JW | 1 |
| Groeneveld, DJ | 1 |
| Cosemans, G | 1 |
| Dirven, RJ | 1 |
| Valentijn, KM | 1 |
| Voorberg, J | 1 |
| Reitsma, PH | 1 |
| Eikenboom, J | 1 |
| Matsubara, Y | 1 |
| Murata, M | 1 |
| Sugita, K | 1 |
| Ikeda, Y | 1 |
| Nurden, P | 1 |
| Lanza, F | 1 |
| Bonnafous-Faurie, C | 1 |
| Nurden, A | 1 |
| Gaucher, C | 1 |
| Uno, H | 1 |
| Yamazaki, T | 1 |
| Mashiba, H | 1 |
| Mazurier, C | 1 |
4 other studies available for serine and Angiohemophilia
| Article | Year |
|---|---|
Biogenesis of Weibel-Palade bodies in von Willebrand's disease variants with impaired von Willebrand factor intrachain or interchain disulfide bond formation.
Topics: Cysteine; Disulfides; Endoplasmic Reticulum; HEK293 Cells; Humans; Models, Biological; Mutation; Pla | 2012 |
Identification of a novel point mutation in platelet glycoprotein Ibalpha, Gly to Ser at residue 233, in a Japanese family with platelet-type von Willebrand disease.
Topics: Bleeding Time; Blood Platelets; Blood Proteins; Cell Line; Child, Preschool; Dose-Response Relations | 2003 |
A second report of platelet-type von Willebrand disease with a Gly233Ser mutation in the GPIBA gene.
Topics: Adult; Blood Platelet Disorders; Blood Platelets; Female; Glycine; Humans; Mutation; Platelet Functi | 2007 |
A new candidate mutation (N528S) within the von Willebrand factor propeptide identified in a Japanese patient with phenotype IIC of von Willebrand disease.
Topics: Adult; Amino Acid Substitution; Asparagine; DNA Mutational Analysis; Exons; Homozygote; Humans; Japa | 1998 |