Mutation analysis of the RSK2 gene in Coffin-Lowry patients: extensive allelic heterogeneity and a high rate of de novo mutations
about
Localization and retention of p90 ribosomal S6 kinase 1 in the nucleus: implications for its functionX-linked Coffin-Lowry syndrome (CLS, MIM 303600, RPS6KA3 gene, protein product known under various names: pp90(rsk2), RSK2, ISPK, MAPKAP1)ERK and p38 MAPK-activated protein kinases: a family of protein kinases with diverse biological functionsNon-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene.Ras and Rap signaling in synaptic plasticity and mental disorders.Recruitment and activation of RSK2 by HIV-1 TatKinMutBase, a database of human disease-causing protein kinase mutations.Kaposi's sarcoma-associated herpesvirus ORF45 mediates transcriptional activation of the HIV-1 long terminal repeat via RSK2.Coffin-Lowry syndrome: clinical and molecular features.Coffin-Lowry syndrome.Unusual splice-site mutations in the RSK2 gene and suggestion of genetic heterogeneity in Coffin-Lowry syndrome.Regulation of protein kinase A activity by p90 ribosomal S6 kinase 1.Activation of p90 Rsk1 is sufficient for differentiation of PC12 cells.The role of CREB signaling in Alzheimer's disease and other cognitive disorders.A regulatory mechanism for RSK2 NH(2)-terminal kinase activity.Mechanical ventilation in Coffin-Lowry syndrome: a case report.Erk is essential for growth, differentiation, integrin expression, and cell function in human osteoblastic cells.Postmortem findings in the Coffin-Lowry Syndrome.Localization of non-specific X-linked mental retardation gene (MRX73) to Xp22.2.Adult with an interstitial deletion of chromosome 10 [del(10)(q25. 1q25.3)]: overlap with Coffin-Lowry syndrome.The historical Coffin-Lowry syndrome family revisited: identification of two novel mutations of RPS6KA3 in three male patients.
P2860
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P2860
Mutation analysis of the RSK2 gene in Coffin-Lowry patients: extensive allelic heterogeneity and a high rate of de novo mutations
description
1998 nî lūn-bûn
@nan
1998 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Mutation analysis of the RSK2 ...... high rate of de novo mutations
@ast
Mutation analysis of the RSK2 ...... high rate of de novo mutations
@en
Mutation analysis of the RSK2 ...... high rate of de novo mutations
@nl
type
label
Mutation analysis of the RSK2 ...... high rate of de novo mutations
@ast
Mutation analysis of the RSK2 ...... high rate of de novo mutations
@en
Mutation analysis of the RSK2 ...... high rate of de novo mutations
@nl
prefLabel
Mutation analysis of the RSK2 ...... high rate of de novo mutations
@ast
Mutation analysis of the RSK2 ...... high rate of de novo mutations
@en
Mutation analysis of the RSK2 ...... high rate of de novo mutations
@nl
P2093
P2860
P356
P1476
Mutation analysis of the RSK2 ...... high rate of de novo mutations
@en
P2093
De Cesare D
Pannetier S
Sassone-Corsi P
P2860
P304
P356
10.1086/302153
P407
P577
1998-12-01T00:00:00Z