Page last updated: 2024-10-15

phosphoserine and Noonan Syndrome

phosphoserine has been researched along with Noonan Syndrome in 1 studies

Phosphoserine: The phosphoric acid ester of serine.

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.

Research

Studies (1)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's0 (0.00)24.3611
2020's1 (100.00)2.80

Authors

AuthorsStudies
Bonsor, DA1
Alexander, P1
Snead, K1
Hartig, N1
Drew, M1
Messing, S1
Finci, LI1
Nissley, DV1
McCormick, F1
Esposito, D1
Rodriguez-Viciana, P1
Stephen, AG1
Simanshu, DK1

Other Studies

1 other study available for phosphoserine and Noonan Syndrome

ArticleYear
Structure of the SHOC2-MRAS-PP1C complex provides insights into RAF activation and Noonan syndrome.
    Nature structural & molecular biology, 2022, Volume: 29, Issue:10

    Topics: Humans; Intracellular Signaling Peptides and Proteins; MAP Kinase Signaling System; Mitogen-Activate

2022