(Q34065204)

30 July 2017

title

CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation (English)

1 reference

Adrianus Henricus Maria Geurts van Kessel

30 July 2017

0 references

0 references

1 reference

13

Ad Geurts van Kessel

0 references

Jamie M Kramer

Jamie M Kramer

2

0 references

Annette Schenck

Annette Schenck

9

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Hans van Bokhoven

10

Hans van Bokhoven

1 reference

30 July 2017

4

Dorien Lugtenberg

1 reference

30 July 2017

13

Ad Geurts van Kessel

1 reference

30 July 2017

Arijit Mukhopadhyay

1

1 reference

30 July 2017

Gerard Merkx

3

1 reference

30 July 2017

Dominique F Smeets

5

1 reference

30 July 2017

Merel A W Oortveld

6

1 reference

30 July 2017

Ellen A W Blokland

7

1 reference

30 July 2017

Jyoti Agrawal

8

1 reference

30 July 2017

Erik Huys

11

1 reference

30 July 2017

Eric F Schoenmakers

12

1 reference

30 July 2017

C Erik van Nouhuys

14

1 reference

30 July 2017

Frans P M Cremers

15

1 reference

30 July 2017

publication date

22 June 2010

1 reference

30 July 2017

1 reference

30 July 2017

volume

128

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30 July 2017

issue

3

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30 July 2017

page(s)

281-291

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The human CDK8 subcomplex is a molecular switch that controls Mediator coactivator function

30 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921488

The human CDK8 subcomplex is a histone kinase that requires Med12 for activity and can function independently of mediator

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921488

The Drosophila homologue of the Angelman syndrome ubiquitin ligase regulates the formation of terminal dendritic branches

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921488

Mediator links epigenetic silencing of neuronal gene expression with x-linked mental retardation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921488

Systematic identification of genes that regulate neuronal wiring in the Drosophila visual system

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921488

The histone H3K4 demethylase SMCX links REST target genes to X-linked mental retardation.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921488

A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921488

The X-linked mental retardation gene SMCX/JARID1C defines a family of histone H3 lysine 4 demethylases

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921488

Distinct roles for Mediator Cdk8 module subunits in Drosophila development.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921488

The cyclin-dependent kinase 8 module sterically blocks Mediator interactions with RNA polymerase II.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921488

The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921488

Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921488

Comparison of 12 reference genes for normalization of gene expression levels in Epstein-Barr virus-transformed lymphoblastoid cell lines and fibroblasts

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921488

The Ciliopathies: An Emerging Class of Human Genetic Disorders

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921488

Congenital microcephaly, juvenile retinal dystrophy and normal mentation in a mildly dysmorphic child

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921488

Histone methyltransferases G9a and GLP form heteromeric complexes and are both crucial for methylation of euchromatin at H3-K9

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921488

Rett syndrome: clinical review and genetic update

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921488

Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921488

Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921488

Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921488

Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921488

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921488

Mapping and characterization of the mouse and human SS18 genes, two human SS18-like genes and a mouse Ss18 pseudogene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921488

A new mathematical model for relative quantification in real-time RT-PCR

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921488

Dendritic anomalies in disorders associated with mental retardation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921488

Drosophila Cdk8, a kinase partner of cyclin C that interacts with the large subunit of RNA polymerase II.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921488

Targeted gene expression as a means of altering cell fates and generating dominant phenotypes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921488

Microcephaly, microphthalmia, falciform retinal folds, and blindness. A new syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921488

Congenital retinal fold as a sign of dominant exudative vitreoretinopathy.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921488

The neighbor-joining method: a new method for reconstructing phylogenetic trees

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921488

Control of dendritic development by theDrosophila fragile X-relatedgene involves the small GTPase Rac1

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921488

Different levels of the homeodomain protein cut regulate distinct dendrite branching patterns of Drosophila multidendritic neurons

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921488

Tiling of the Drosophila epidermis by multidendritic sensory neurons.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921488

Characterization of two unusual RS1 gene deletions segregating in Danish retinoschisis families.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921488

An efficient method for routine Epstein-Barr virus immortalization of human B lymphocytes

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921488

Dominant exudative vitreoretinopathy and other vascular developmental disorders of the peripheral retina.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2921488

Autosomal recessive vitreoretinopathy and encephaloceles

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20563892

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Falciform retinal fold as sign of familial exudative vitreoretinopathy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20563892

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Two cases of ablatio falciformis congenita and other 2 cases of ocular congenital anomalies, which appeared in a pedigree with consangineous marriages

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20563892

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S00439-010-0848-X

1 reference

Dimensions Publication ID

30 July 2017

0 references

1 reference

30 July 2017

1 reference