(Q52678183)

5 May 2018

title

The somatic FAH C.1061C>A change counteracts the frequent FAH c.1062+5G>A mutation and permits U1snRNA-based splicing correction. (English)

1 reference

5 May 2018

author

Stan F van de Graaf

5

1 reference

5 May 2018

Dario Balestra

6

1 reference

5 May 2018

author name string

Daniela Scalet

1

1 reference

5 May 2018

Claudia Sacchetto

2

1 reference

5 May 2018

Francesco Bernardi

3

1 reference

5 May 2018

Mirko Pinotti

4

1 reference

5 May 2018

publication date

1 March 2018

1 reference

5 May 2018

Journal of Human Genetics

published in

1 reference

5 May 2018

volume

63

1 reference

5 May 2018

issue

5

1 reference

5 May 2018

page(s)

683-686

1 reference

5 May 2018

describes a project that uses

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5919117/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

exact match

https://scigraph.springernature.com/pub.10.1038/s10038-018-0427-x

0 references

cites work

An Exon-Specific U1snRNA Induces a Robust Factor IX Activity in Mice Expressing Multiple Human FIX Splicing Mutants.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5919117

Exploring Splicing-Switching Molecules For Seckel Syndrome Therapy

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5919117

Molecular Basis and Therapeutic Strategies to Rescue Factor IX Variants That Affect Splicing and Protein Function

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5919117

Regulation of a strong F9 cryptic 5'ss by intrinsic elements and by combination of tailored U1snRNAs with antisense oligonucleotides

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5919117

Functional analysis and in vitro correction of splicing FAH mutations causing tyrosinemia type I.

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5919117

Pick one, but be quick: 5' splice sites and the problems of too many choices

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5919117

Activation of a cryptic splice site in a potentially lethal coagulation defect accounts for a functional protein variant.

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5919117

An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5919117

Loss of exon identity is a common mechanism of human inherited disease

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5919117

Tyrosinaemia type I--de novo mutation in liver tissue suppressing an inborn splicing defect

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5919117

In vivo reversion to normal of inherited mutations in humans

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5919117

A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5919117

Self-induced correction of the genetic defect in tyrosinemia type I

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5919117

On the enzymic defects in hereditary tyrosinemia

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5919117

Tyrosinemia type 1--complex splicing defects and a missense mutation in the fumarylacetoacetase gene

25 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FS10038-018-0427-X

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/S10038-018-0427-X

1 reference

5 May 2018

0 references

1 reference

5 May 2018