(Q34444679)

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Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability

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scholarly article

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Europe PubMed Central

PubMed publication ID

2 August 2017

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Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability (English)

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

3

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25342064%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

author name string

David Hunt

1

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25342064%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Richard J Leventer

2

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25342064%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Ryan Taft

4

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25342064%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Kathryn J Swoboda

5

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25342064%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Mary Gawne-Cain

6

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25342064%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

DDD study

7

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25342064%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Alex C Magee

8

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25342064%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Peter D Turnpenny

9

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25342064%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Diana Baralle

10

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25342064%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

language of work or name

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publication date

23 October 2014

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25342064%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

51

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25342064%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

12

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25342064%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

806-813

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25342064%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Joint variant and de novo mutation identification on pedigrees from high-throughput sequencing data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4251168

6 July 2018

DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4251168

6 July 2018

Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4251168

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4251168

6 July 2018

A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4251168

6 July 2018

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4251168

6 July 2018

Lack of Pur-alpha alters postnatal brain development and causes megalencephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4251168

6 July 2018

Genetic and epigenetic networks in intellectual disabilities.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4251168

6 July 2018

dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4251168

6 July 2018

A map of human genome variation from population-scale sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4251168

6 July 2018

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4251168

6 July 2018

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4251168

6 July 2018

The human phenotype ontology.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4251168

6 July 2018

Regulation of gonadotropin-releasing hormone-1 gene transcription by members of the purine-rich element-binding protein family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4251168

6 July 2018

X-ray structure of Pur- reveals a Whirly-like fold and an unusual nucleic-acid binding surface

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4251168

6 July 2018

Negative regulation of AbetaPP gene expression by pur-alpha.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4251168

6 July 2018

Proteomic analysis of nuclear factors binding to an intronic enhancer in the myelin proteolipid protein gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4251168

6 July 2018

Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of fragile X tremor/ataxia syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4251168

6 July 2018

Role of Pur alpha in targeting mRNA to sites of translation in hippocampal neuronal dendrites

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4251168

6 July 2018

Mechanism of DNA binding and localized strand separation by Pur alpha and comparison with Pur family member, Pur beta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4251168

6 July 2018

Puralpha is essential for postnatal brain development and developmentally coupled cellular proliferation as revealed by genetic inactivation in the mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4251168

6 July 2018

Regulation of Puralpha gene transcription: evidence for autoregulation of Puralpha promoter

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4251168

6 July 2018

Helix-destabilizing properties of the human single-stranded DNA- and RNA-binding protein Puralpha

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4251168

6 July 2018

Neural BC1 RNA associates with pur alpha, a single-stranded DNA and RNA binding protein, which is involved in the transcription of the BC1 RNA gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4251168

6 July 2018

dbSNP-database for single nucleotide polymorphisms and other classes of minor genetic variation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4251168

6 July 2018

Molecular interactions between single-stranded DNA-binding proteins associated with an essential MCAT element in the mouse smooth muscle alpha-actin promoter

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4251168

6 July 2018

DNA-binding protein Pur alpha and transcription factor YY1 function as transcription activators of the neuron-specific FE65 gene promoter

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4251168

6 July 2018

A developmentally regulated DNA-binding protein from mouse brain stimulates myelin basic protein gene expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4251168

6 July 2018

A 39-kD DNA-binding protein from mouse brain stimulates transcription of myelin basic protein gene in oligodendrocytic cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4251168

6 July 2018

The HeLa Pur factor binds single-stranded DNA at a specific element conserved in gene flanking regions and origins of DNA replication

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4251168

6 July 2018

Sequence of cDNA comprising the human pur gene and sequence-specific single-stranded-DNA-binding properties of the encoded protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4251168

6 July 2018

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102798

21 January 2018

A de novo paradigm for mental retardation.

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102798

21 January 2018

Functional interaction between cyclin T1/cdk9 and Puralpha determines the level of TNFalpha promoter activation by Tat in glial cells

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102798

21 January 2018

Pur alpha and Sp8 as opposing regulators of neural gata2 expression

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102798

21 January 2018

Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102798

21 January 2018

Nucleoprotein interactions governing cell type-dependent repression of the mouse smooth muscle alpha-actin promoter by single-stranded DNA-binding proteins Pur alpha and Pur beta

1 reference

https://pubmed.ncbi.nlm.nih.gov/25342064

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination

1 reference

https://pubmed.ncbi.nlm.nih.gov/25342064

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

5q31.3 Microdeletion syndrome: clinical and molecular characterization of two further cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/25342064

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMEDGENET-2014-102798

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25342064%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25342064%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25342064%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

ResearchGate publication ID

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