A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation (Q22011110)

central nervous system development

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

4

G van Duijnhoven

G

van Duijnhoven

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7 February 2023

H G Yntema

1

H G

Yntema

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7 February 2023

B van den Helm

2

B

van den Helm

1 reference

7 February 2023

J Kissing

3

J

Kissing

1 reference

7 February 2023

F Poppelaars

5

F

Poppelaars

1 reference

7 February 2023

J Chelly

6

J

Chelly

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7 February 2023

C Moraine

7

C

Moraine

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7 February 2023

J P Fryns

8

J P

Fryns

1 reference

7 February 2023

B C Hamel

9

B C

Hamel

1 reference

7 February 2023

H Heilbronner

10

H

Heilbronner

1 reference

7 February 2023

H J Pander

11

H J

Pander

1 reference

7 February 2023

H G Brunner

12

H G

Brunner

1 reference

7 February 2023

H H Ropers

13

H H

Ropers

1 reference

7 February 2023

F P Cremers

14

F P

Cremers

1 reference

7 February 2023

H van Bokhoven

15

H

van Bokhoven

1 reference

A New Dominant Gene Mental Retardation Syndrome

7 February 2023

language of work or name

English

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publication date

15 December 1999

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published in

Genomics

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volume

62

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issue

3

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page(s)

332-43

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cites work

1 reference

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7 January 2021

Nonspecific X-linked mental retardation II: the frequency in British Columbia.

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7 January 2021

New X-linked syndrome of mental retardation, gynecomastia, and obesity is linked to DXS255.

1 reference

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7 January 2021

Localization of non-specific X-linked mental retardation genes

1 reference

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7 January 2021

Non-specific X-linked mental retardation: linkage analysis in MRX2 and MRX4 families revisited.

1 reference

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7 January 2021

Mental retardation, congenital heart defect, cleft palate, short stature, and facial anomalies: a new X-linked multiple congenital anomalies/mental retardation syndrome: clinical description and molecular studies

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6004

7 January 2021

Short tandem repeat polymorphism linkage studies in a new family with X-linked mental retardation (MRX20).

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6004

7 January 2021

Further linkage evidence for localization of mutational sites for nonsyndromic types of X-linked mental retardation at the pericentromeric region

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6004

7 January 2021

How many X-linked genes for non-specific mental retardation (MRX) are there?

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6004

7 January 2021

A gene for FG syndrome maps in the Xq12-q21.31 region

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https://api.crossref.org/works/10.1006%2FGENO.1999.6004

7 January 2021

XLMR genes: Update 1998

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https://api.crossref.org/works/10.1006%2FGENO.1999.6004

7 January 2021

Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: Clinical and psychometric data and results of linkage analysis

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6004

7 January 2021

X-linked mental retardation: evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric region

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6004

7 January 2021

A high-resolution interval map of the q21 region of the human X chromosome

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6004

7 January 2021

Physical fine mapping of genes underlying X-linked deafness and non fra (X)-X-linked mental retardation at Xq21

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6004

7 January 2021

DXS26 (HU16) is located in Xq21.1.

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6004

7 January 2021

Localization of the gene (or genes) for a syndrome with X-linked mental retardation, ataxia, weakness, hearing impairment, loss of vision and a fatal course in early childhood

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6004

7 January 2021

"A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum

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7 January 2021

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6004

7 January 2021

Physical fine mapping of the choroideremia locus using Xq21 deletions associated with complex syndromes.

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6004

7 January 2021

Rapid isolation of human chromosome-specific DNA probes from a somatic cell hybrid

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6004

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6004

7 January 2021

Recent progress in characterization of protein kinase cascades for phosphorylation of ribosomal protein S6.

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6004

7 January 2021

Molecular enhancement of memory formation

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6004

7 January 2021

Regulation of dendritic growth and remodeling by Rho, Rac, and Cdc42.

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6004

7 January 2021

Rho family GTP-binding proteins in growth cone signalling

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6004

7 January 2021

Emerging from the Pak: the p21-activated protein kinase family.

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6004

7 January 2021

Regulation of an epitope-tagged recombinant Rsk-1 S6 kinase by phorbol ester and erk/MAP kinase

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6004

7 January 2021

PAK3 mutation in nonsyndromic X-linked mental retardation

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6004

7 January 2021

Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6004

7 January 2021

Cloning of a gene that is rearranged in patients with choroideraemia

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6004

7 January 2021

Differential effects of the Rac GTPase on Purkinje cell axons and dendritic trunks and spines.

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6004

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6004

7 January 2021

Mind the GAP, Rho, Rab and GDI.

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6004

7 January 2021

Mutations in GDI1 are responsible for X-linked non-specific mental retardation

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6004

7 January 2021

A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6004

7 January 2021

Identification of the gene FMR2, associated with FRAXE mental retardation

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6004

7 January 2021

Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6004

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6004

7 January 2021

Improved tools for biological sequence comparison

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6004

7 January 2021

Jun N-terminal kinase mediates activation of skeletal muscle glycogen synthase by insulin in vivo

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6004

7 January 2021

Mutation analysis of the RSK2 gene in Coffin-Lowry patients: extensive allelic heterogeneity and a high rate of de novo mutations

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6004

7 January 2021

Extracellular signal-regulated kinases: ERKs in progress

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6004

7 January 2021

Cloning and characterization of the human choroideremia gene

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6004

7 January 2021

Mutation spectrum in the CHM gene of Danish and Swedish choroideremia patients

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6004

7 January 2021

X-linked mixed deafness (DFN3): cloning and characterization of the critical region allows the identification of novel microdeletions

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6004

7 January 2021

Molecular analysis of four males with mental retardation and deletions of Xq21 places the putative MR region in Xq21.1 between DXS233 and CHM.

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6004

7 January 2021

Identification of a hot spot for microdeletions in patients with X- linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6004

7 January 2021

L1-associated diseases: clinical geneticists divide, molecular geneticists unite.

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6004

7 January 2021

Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor.

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6004

7 January 2021

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6004

7 January 2021

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6004

7 January 2021

Scanning for genes in large genomic regions: cosmid-based exon trapping of multiple exons in a single product.

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6004

7 January 2021

The MAPK signaling cascade

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6004

7 January 2021

Identification of insulin-stimulated protein kinase-1 as the rabbit equivalent of rskmo-2. Identification of two threonines phosphorylated during activation by mitogen-activated protein kinase

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6004

7 January 2021

Coupling of the RAS-MAPK pathway to gene activation by RSK2, a growth factor-regulated CREB kinase

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6004

7 January 2021

Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6004

7 January 2021

Identification of Xenopus S6 protein kinase homologs (pp90rsk) in somatic cells: phosphorylation and activation during initiation of cell proliferation

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6004

7 January 2021

Regulation of pp90rsk phosphorylation and S6 phosphotransferase activity in Swiss 3T3 cells by growth factor-, phorbol ester-, and cyclic AMP-mediated signal transduction

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6004

7 January 2021

Coordinate regulation of pp90rsk and a distinct protein-serine/threonine kinase activity that phosphorylates recombinant pp90rsk in vitro

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6004

7 January 2021

Nuclear localization and regulation of erk- and rsk-encoded protein kinases

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6004

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6004

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6004

7 January 2021

Non-specific X linked mental retardation

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6004

7 January 2021

Localisation of two candidate genes for mental retardation using a YAC physical map of the Xq21.1-21.2 subbands.

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6004

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6004

7 January 2021

Yeast artificial chromosome cloning of the Xq13.3-q21.31 region and fine mapping of a deletion associated with choroideremia and nonspecific mental retardation.

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6004

7 January 2021

Neurotransmitter- and growth factor-induced cAMP response element binding protein phosphorylation in glial cell progenitors: role of calcium ions, protein kinase C, and mitogen-activated protein kinase/ribosomal S6 kinase pathway.

1 reference

https://api.crossref.org/works/10.1006%2FGENO.1999.6004

7 January 2021

release_kubd3v73fjadbfezraog6c3ihi

Identifiers

DOI

10.1006/GENO.1999.6004

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Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/kubd3v73fjadbfezraog6c3ihi

24 November 2022

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