(Q28241396)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24898194%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

title

Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24898194%20AND%20SRC:MED&resulttype=core&format=json

X-linked intellectual disability

19 March 2020

main subject

disability

0 references

0 references

disability affecting intellectual abilities

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24898194%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Antonio Novelli

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24898194%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

author name string

Jeffrey Adijanto

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24898194%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Nancy Philp

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24898194%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Emilia Vitale

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24898194%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Chiara Perria

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24898194%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Gigliola Serra

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24898194%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Viola Alesi

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24898194%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Saul Surrey

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24898194%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

Paolo Fortina

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24898194%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

language of work or name

English

0 references

publication date

4 June 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24898194%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

19 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24898194%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

volume

164A

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24898194%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

issue

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24898194%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

page(s)

2294-2299

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24898194%20AND%20SRC:MED&resulttype=core&format=json

Fragile X and X-linked intellectual disability: four decades of discovery

19 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4404493

Seizures and X-linked intellectual disability

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4404493

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4404493

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4404493

Mutation in CUL4B, which encodes a member of cullin-RING ubiquitin ligase complex, causes X-linked mental retardation

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4404493

Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4404493

Conserved seed pairing, often flanked by adenosines, indicates that thousands of human genes are microRNA targets

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4404493

Kaiso is a genome-wide repressor of transcription that is essential for amphibian development

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4404493

A framework for variation discovery and genotyping using next-generation DNA sequencing data

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4404493

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4404493

A pattern-based method for the identification of MicroRNA binding sites and their corresponding heteroduplexes

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4404493

The neurobiology of X-linked intellectual disability.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4404493

ZBTB33 binds unmethylated regions of the genome associated with actively expressed genes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4404493

Genetic syndromes caused by mutations in epigenetic genes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4404493

The myotonic dystrophies: molecular, clinical, and therapeutic challenges

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4404493

Regulation of eukaryotic gene expression by the untranslated gene regions and other non-coding elements

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4404493

AU-rich RNA binding proteins in hematopoiesis and leukemogenesis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4404493

Biological functions of methyl-CpG-binding proteins

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4404493

Post-transcriptional control during chronic inflammation and cancer: a focus on AU-rich elements

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4404493

Role of 5'- and 3'-untranslated regions of mRNAs in human diseases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4404493

The methyl-CpG binding proteins Mecp2, Mbd2 and Kaiso are dispensable for mouse embryogenesis, but play a redundant function in neural differentiation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4404493

The X-linked methyl binding protein gene Kaiso is highly expressed in brain but is not mutated in Rett syndrome patients

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4404493

Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4404493

Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4404493

A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4404493

A nucleotide change at a splice junction in the human beta-globin gene is associated with beta 0-thalassemia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4404493

Effect of 5' splice site mutations on splicing of the preceding intron

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4404493

A novel nonsense mutation in CUL4B gene in three brothers with X-linked mental retardation syndrome.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4404493

Novel X-linked mental retardation syndrome with short stature maps to Xq24.

2 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FAJMG.A.36629

Deletion of CUL4B leads to concordant phenotype in a monozygotic twin pair

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24898194

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A moderately severe alpha-thalassemia condition resulting from a combination of the alpha2 polyadenylation signal (AATAAA-->AATA- -) mutation and a 3.7 Kb alpha gene deletion in an Australian family

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24898194

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Deletion of the CUL4B gene in a boy with mental retardation, minor facial anomalies, short stature, hypogonadism, and ataxia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24898194

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/AJMG.A.36629

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24898194%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24898194%20AND%20SRC:MED&resulttype=core&format=json

19 March 2020

1 reference