serine has been researched along with Noonan Syndrome in 2 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.
Noonan Syndrome: A genetically heterogeneous, multifaceted disorder characterized by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism, hormonal imbalance, CRYPTORCHIDISM, multiple cardiac abnormalities (most commonly including PULMONARY VALVE STENOSIS), and some degree of INTELLECTUAL DISABILITY. The phenotype bears similarities to that of TURNER SYNDROME that occurs only in females and has its basis in a 45, X karyotype abnormality. Noonan syndrome occurs in both males and females with a normal karyotype (46,XX and 46,XY). Mutations in a several genes (PTPN11, KRAS, SOS1, NF1 and RAF1) have been associated the NS phenotype. Mutations in PTPN11 are the most common. LEOPARD SYNDROME, a disorder that has clinical features overlapping those of Noonan Syndrome, is also due to mutations in PTPN11. In addition, there is overlap with the syndrome called neurofibromatosis-Noonan syndrome due to mutations in NF1.
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 2 (100.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Kobayashi, T | 1 |
| Aoki, Y | 1 |
| Niihori, T | 1 |
| Cavé, H | 1 |
| Verloes, A | 1 |
| Okamoto, N | 1 |
| Kawame, H | 1 |
| Fujiwara, I | 1 |
| Takada, F | 1 |
| Ohata, T | 1 |
| Sakazume, S | 1 |
| Ando, T | 1 |
| Nakagawa, N | 1 |
| Lapunzina, P | 1 |
| Meneses, AG | 1 |
| Gillessen-Kaesbach, G | 1 |
| Wieczorek, D | 1 |
| Kurosawa, K | 1 |
| Mizuno, S | 1 |
| Ohashi, H | 1 |
| David, A | 1 |
| Philip, N | 1 |
| Guliyeva, A | 1 |
| Narumi, Y | 1 |
| Kure, S | 1 |
| Tsuchiya, S | 1 |
| Matsubara, Y | 1 |
| Molzan, M | 1 |
| Schumacher, B | 1 |
| Ottmann, C | 2 |
| Baljuls, A | 1 |
| Polzien, L | 1 |
| Weyand, M | 1 |
| Thiel, P | 1 |
| Rose, R | 1 |
| Rose, M | 1 |
| Kuhenne, P | 1 |
| Kaiser, M | 1 |
| Rapp, UR | 1 |
| Kuhlmann, J | 1 |
2 other studies available for serine and Noonan Syndrome
| Article | Year |
|---|---|
Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation.
Topics: 14-3-3 Proteins; Animals; Cardiomyopathies; Facies; Humans; Mice; Models, Genetic; Mutation; NIH 3T3 | 2010 |
Impaired binding of 14-3-3 to C-RAF in Noonan syndrome suggests new approaches in diseases with increased Ras signaling.
Topics: 14-3-3 Proteins; Animals; Binding Sites; Cell Line; Chlorocebus aethiops; Crystallization; Crystallo | 2010 |