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

Data up to Jan 2025

Published1999
Citations29
References18

Total Citations Per Year

Abstract

References (18)

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

1996 • 398 citations

Protein truncation test (PTT) for rapid detection of translation-terminating mutations

1993 • 297 citations

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

1988 • 282 citations

Detection of minority point mutations by modified PCR technique: a new approach for a sensitive diagnosis of tumor-progression markers

1989 • 184 citations

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

1989 • 174 citations

Regulation and Interaction of pp90 Isoforms with Mitogen-activated Protein Kinases

1996 • 162 citations

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

1994 • 104 citations

The Coffin-Lowry syndrome: An inherited faciodigital mental retardation syndrome

1975 • 86 citations

Allan-Herndon syndrome. II. Linkage to DNA markers in Xq21.

1990 • 86 citations

The Coffin-Lowry syndrome.

1988 • 73 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

A split hand-split foot (SHFM3) gene is located at 10Q24→25

1996 • 52 citations

Probable localisation of the Coffin‐Lowry locus in Xp22.2‐P22.1 by multipoint linkage analysis

1988 • 46 citations

Substrate specificity of ribosomal protein S6 kinase II from Xenopus eggs.

1988 • 43 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

The Protein Truncation Test (PTT) for Rapid Detection of Translation-Terminating Mutations

1996 • 18 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 • 14 citations

Crossover analysis in a British family suggests that Coffin‐Lowry syndrome maps to a 3.4‐cM interval in Xp22

1995 • 13 citations

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Novel mutations in Rsk-2, the gene for Coffin-Lowry syndrome (CLS) (1999) – European Journal of Human Genetics | Metascience Observatory Explorer