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

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

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

http://www.wikidata.org/entity/Q41818950

about

Mutation analysis of the RSK2 gene in Coffin-Lowry patients: extensive allelic heterogeneity and a high rate of de novo mutations X-linked Coffin-Lowry syndrome (CLS, MIM 303600, RPS6KA3 gene, protein product known under various names: pp90(rsk2), RSK2, ISPK, MAPKAP1)Rsk-2 activity is necessary for epidermal growth factor-induced phosphorylation of CREB protein and transcription of c-fos gene Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene.Coffin-Lowry syndrome: clinical and molecular features.Unusual splice-site mutations in the RSK2 gene and suggestion of genetic heterogeneity in Coffin-Lowry syndrome.RSK2 mutation co-segregates with X-linked intellectual disability and attenuated Coffin-Lowry phenotype in a three-generation family.Postmortem findings in the 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

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

http://www.wikidata.org/entity/Q41818950

description

1998 nî lūn-bûn

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1998年の論文

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1998年論文

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1998年論文

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1998年論文

@zh-hk

1998年論文

@zh-mo

1998年論文

@zh-tw

1998年论文

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1998年论文

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1998年论文

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name

Rapid immunoblot and kinase as ...... rdation: Coffin-Lowry syndrome

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Rapid immunoblot and kinase as ...... rdation: Coffin-Lowry syndrome

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Journal of Medical Genetics

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Rapid immunoblot and kinase as ...... rdation: Coffin-Lowry syndrome

@en

P2093

A Hanauer

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A Rossi

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A Schinzel

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C Castellan

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C Scott

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E Trivier

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S Jacquot

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S Pannetier

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W Kress

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P2860

RSK3 encodes a novel pp90rsk isoform with a unique N-terminal sequence: growth factor-stimulated kinase function and nuclear translocation

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

The protein kinase family: conserved features and deduced phylogeny of the catalytic domains

A point mutation in the XNP gene, associated with an ATR-X phenotype without alpha-thalassemia

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

The Coffin-Lowry syndrome.

A new dominant gene mental retardation syndrome. Association with small stature, tapering fingers, characteristic facies, and possible hydrocephalus.

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

Evidence for two catalytically active kinase domains in pp90rsk.

Pleiotropy in Coffin-Lowry syndrome: sensorineural hearing deficit and premature tooth loss as early manifestations.

P304

890-894

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scholarly article

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10.1136/JMG.35.11.890

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11

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35

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1998-11-01T00:00:00Z

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13454806

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9832033

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1051479

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