serine has been researched along with von Willebrand Diseases 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.
von Willebrand Diseases: Group of hemorrhagic disorders in which the VON WILLEBRAND FACTOR is either quantitatively or qualitatively abnormal. They are usually inherited as an autosomal dominant trait though rare kindreds are autosomal recessive. Symptoms vary depending on severity and disease type but may include prolonged bleeding time, deficiency of factor VIII, and impaired platelet adhesion.
| 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 von Willebrand Diseases
| 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 |