serine has been researched along with Bernard-Soulier Syndrome in 7 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.
Bernard-Soulier Syndrome: A familial coagulation disorder characterized by a prolonged bleeding time, unusually large platelets, and impaired prothrombin consumption.
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 5 (71.43) | 18.2507 |
| 2000's | 1 (14.29) | 29.6817 |
| 2010's | 1 (14.29) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| HadjKacem, B | 1 |
| Elleuch, H | 1 |
| Trigui, R | 1 |
| Gargouri, J | 1 |
| Gargouri, AF | 1 |
| Drouin, J | 1 |
| Carson, NL | 1 |
| Laneuville, O | 1 |
| Kunishima, S | 1 |
| Miura, H | 1 |
| Fukutani, H | 1 |
| Yoshida, H | 1 |
| Osumi, K | 1 |
| Kobayashi, S | 1 |
| Ohno, R | 1 |
| Naoe, T | 1 |
| Clemetson, JM | 1 |
| Kyrle, PA | 1 |
| Brenner, B | 1 |
| Clemetson, KJ | 1 |
| Noris, P | 1 |
| Simsek, S | 1 |
| Stibbe, J | 1 |
| von dem Borne, AE | 1 |
| Suzuki, K | 1 |
| Hayashi, T | 1 |
| Yahagi, A | 1 |
| Akiba, J | 1 |
| Tajima, K | 1 |
| Satoh, S | 1 |
| Sasaki, H | 1 |
| Koskela, S | 1 |
| Javela, K | 1 |
| Jouppila, J | 1 |
| Juvonen, E | 1 |
| Nyblom, O | 1 |
| Partanen, J | 1 |
| Kekomäki, R | 1 |
7 other studies available for serine and Bernard-Soulier Syndrome
| Article | Year |
|---|---|
The same genetic defect in three Tunisian families with Bernard Soulier syndrome: a probable founder Stop mutation in GPIbβ.
Topics: Adult; Bernard-Soulier Syndrome; Child; Codon, Nonsense; Codon, Terminator; Female; Genetic Variatio | 2010 |
Compound heterozygosity for a novel nine-nucleotide deletion and the Asn45Ser missense mutation in the glycoprotein IX gene in a patient with Bernard-Soulier syndrome.
Topics: Asparagine; Base Sequence; Bernard-Soulier Syndrome; Child; DNA; Female; Flow Cytometry; Gene Deleti | 2005 |
Bernard-Soulier syndrome Kagoshima: Ser 444-->stop mutation of glycoprotein (GP) Ib alpha resulting in circulating truncated GPIb alpha and surface expression of GPIb beta and GPIX.
Topics: Adult; Amino Acid Sequence; Antibodies; Antibodies, Monoclonal; Bernard-Soulier Syndrome; Blood Plat | 1994 |
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; Bl | 1994 |
A phenylalanine-55 to serine amino-acid substitution in the human glycoprotein IX leucine-rich repeat is associated with Bernard-Soulier syndrome.
Topics: Aged; Amino Acid Sequence; Bernard-Soulier Syndrome; Flow Cytometry; Homozygote; Humans; Male; Pedig | 1997 |
Novel point mutation in the leucine-rich motif of the platelet glycoprotein IX associated with Bernard-Soulier syndrome.
Topics: Adult; Autoradiography; Bernard-Soulier Syndrome; Blotting, Western; Cytosine; Female; Flow Cytometr | 1997 |
Variant Bernard-Soulier syndrome due to homozygous Asn45Ser mutation in the platelet glycoprotein (GP) IX in seven patients of five unrelated Finnish families.
Topics: Amino Acid Substitution; Asparagine; Bernard-Soulier Syndrome; Female; Finland; Genetic Variation; H | 1999 |