Back to search

Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome

Data up to Jan 2025

Published2001
Citations90
References42

Total Citations Per Year

Abstract

References (42)

Protein kinases 6. The eukaryotic protein kinase superfamily: kinase (catalytic) domain structure and classification.

1995 • 2,534 citations

The eukaryotic protein kinase superfamily: kinase (catalytic) domain structure and classification 1

1995 • 2,199 citations

Signal transduction via the MAP kinases: proceed at your own RSK.

1993 • 1,262 citations

Coupling of the RAS-MAPK Pathway to Gene Activation by RSK2, a Growth Factor-Regulated CREB Kinase

1996 • 1,253 citations

Protein Kinase C Isotypes Controlled by Phosphoinositide 3-Kinase Through the Protein Kinase PDK1

1998 • 1,118 citations

Protein Kinase B Kinases That Mediate Phosphatidylinositol 3,4,5-Trisphosphate-Dependent Activation of Protein Kinase B

1998 • 1,050 citations

Phosphorylation and Activation of p70 s6k by PDK1

1998 • 835 citations

Mutations in a putative global transcriptional regulator cause X-linked mental retardation with α-thalassemia (ATR-X syndrome)

1995 • 604 citations

Requirement of Rsk-2 for Epidermal Growth Factor-Activated Phosphorylation of Histone H3

1999 • 478 citations

Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome

1996 • 398 citations

Identification of Regulatory Phosphorylation Sites in Mitogen-activated Protein Kinase (MAPK)-activated Protein Kinase-1a/p90 That Are Inducible by MAPK

1998 • 359 citations

Rsk-2 activity is necessary for epidermal growth factor-induced phosphorylation of CREB protein and transcription of c- fos gene

1998 • 302 citations

A Xenopus ribosomal protein S6 kinase has two apparent kinase domains that are each similar to distinct protein kinases.

1988 • 282 citations

Identification of an Extracellular Signal-regulated Kinase (ERK) Docking Site in Ribosomal S6 Kinase, a Sequence Critical for Activation by ERK in Vivo

1999 • 281 citations

90-kDa Ribosomal S6 Kinase Is Phosphorylated and Activated by 3-Phosphoinositide-dependent Protein Kinase-1

1999 • 254 citations

Sequence and expression of chicken and mouse rsk: homologs of Xenopus laevis ribosomal S6 kinase.

1989 • 174 citations

Mild cystic fibrosis and normal or borderline sweat test in patients with the 3849 + 10 kb C → T mutation

1993 • 140 citations

RSK3 Encodes a Novel pp90rsk Isoform with a Unique N-Terminal Sequence: Growth Factor-Stimulated Kinase Function and Nuclear Translocation

1995 • 135 citations

Mental Retardation With Osteocartilaginous Anomalies

1966 • 133 citations

A Novel Ribosomal S6-Kinase (RSK4; RPS6KA6) Is Commonly Deleted in Patients with Complex X-Linked Mental Retardation

1999 • 117 citations

A New Dominant Gene Mental Retardation Syndrome

1971 • 115 citations

Human rsk isoforms: cloning and characterization of tissue-specific expression

1994 • 104 citations

Mutation Analysis of the RSK2 Gene in Coffin-Lowry Patients: Extensive Allelic Heterogeneity and a High Rate of De Novo Mutations

1998 • 87 citations

The Coffin-Lowry syndrome.

1988 • 73 citations

The Coffin‐Lowry syndrome. Experience from four centres

1982 • 61 citations

Cloning of a Human Insulin-Stimulated Protein Kinase (ISPK-1) Gene and Analysis of Coding Regions and mRNA Levels of the ISPK-1 and the Protein Phosphatase-1 Genes in Muscle From NIDDM Patients

1995 • 55 citations

Activation of RSK by UV-light: phosphorylation dynamics and involvement of the MAPK pathway

2000 • 48 citations

Transcription Factor Phosphorylation by pp90

1999 • 45 citations

Coffin‐Lowry syndrome: a multicenter study

1988 • 43 citations

Rapid immunoblot and kinase assay tests for a syndromal form of X linked mental retardation: Coffin-Lowry syndrome.

1998 • 36 citations

Construction of a High-Resolution Linkage Map for Xp22.1-p22.2 and Refinement of the Genetic Localization of the Coffin-Lowry Syndrome Gene

1994 • 35 citations

Pleiotropy in Coffin‐Lowry syndrome: Sensorineural hearing deficit and premature tooth loss as early manifestations

1993 • 34 citations

Ribosomal S6 kinase p90 rsk and mRNA cap‐binding protein eIF4E phosphorylations correlate with MAP kinase activation during meiotic reinitiation of mouse oocytes

1997 • 30 citations

Regional localisation of a non‐specific X‐linked mental retardation gene (MRX19) to Xp22

1994 • 30 citations

Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome

1999 • 29 citations

Novel mutations in Rsk-2, the gene for Coffin-Lowry syndrome (CLS)

1999 • 29 citations

X chromosome inactivation and X-linked mental retardation

1996 • 29 citations

Amino acid alterations within a highly conserved region of the Rous sarcoma virus src gene product pp60src inactivate tyrosine protein kinase activity.

1984 • 29 citations

The Coffin syndrome

1977 • 28 citations

Irradiation Hybrids for Human Chromosome 11: Characterization and Use for Generating Region-Specific Markers in 11q14-q23

1993 • 27 citations

Ribosomal S6 kinase p90rsk and mRNA cap-binding protein eIF4E phosphorylations correlate with MAP kinase activation during meiotic reinitiation of mouse oocytes

1997 • 20 citations

Germline mosaicism in Coffin-Lowry syndrome

1998 • 16 citations

Cited By (0)

No citing papers found in database

Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome (2001) – Human Mutation | Metascience Observatory Explorer