(Q38911508)

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Exon-Specific U1s Correct SPINK5 Exon 11 Skipping Caused by a Synonymous Substitution that Affects a Bifunctional Splicing Regulatory Element

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

7 September 2017

Exon-Specific U1s Correct SPINK5 Exon 11 Skipping Caused by a Synonymous Substitution that Affects a Bifunctional Splicing Regulatory Element (English)

1 reference

Europe PubMed Central

PubMed publication ID

7 September 2017

object named as

Franco Pagani

6

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author name string

Andrea Dal Mas

1

1 reference

Europe PubMed Central

PubMed publication ID

7 September 2017

Paola Fortugno

2

1 reference

Europe PubMed Central

PubMed publication ID

7 September 2017

Irving Donadon

3

1 reference

Europe PubMed Central

PubMed publication ID

7 September 2017

Lauretta Levati

4

1 reference

Europe PubMed Central

PubMed publication ID

7 September 2017

Daniele Castiglia

5

1 reference

Europe PubMed Central

PubMed publication ID

7 September 2017

publication date

19 March 2015

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Europe PubMed Central

PubMed publication ID

7 September 2017

1 reference

Europe PubMed Central

PubMed publication ID

7 September 2017

36

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Europe PubMed Central

PubMed publication ID

7 September 2017

5

1 reference

Europe PubMed Central

PubMed publication ID

7 September 2017

504-512

1 reference

Europe PubMed Central

PubMed publication ID

7 September 2017

An engineered U1 small nuclear RNA rescues splicing defective coagulation F7 gene expression in mice.

1 reference

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Missed threads. The impact of pre-mRNA splicing defects on clinical practice.

1 reference

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LEKTI proteolytic processing in human primary keratinocytes, tissue distribution and defective expression in Netherton syndrome

1 reference

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Defective splicing, disease and therapy: searching for master checkpoints in exon definition.

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Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1.

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ESEfinder: A web resource to identify exonic splicing enhancers

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

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21 January 2018

A founder synonymous COL7A1 mutation in three Danish families with dominant dystrophic epidermolysis bullosa pruriginosa identifies exonic regulatory sequences required for exon 87 splicing.

1 reference

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21 January 2018

Improvement of SMN2 pre-mRNA processing mediated by exon-specific U1 small nuclear RNA.

1 reference

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21 January 2018

Exon and intron definition in pre-mRNA splicing

1 reference

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21 January 2018

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

1 reference

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Ex-vivo gene therapy restores LEKTI activity and corrects the architecture of Netherton syndrome-derived skin grafts

1 reference

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21 January 2018

Phase I study protocol for ex vivo lentiviral gene therapy for the inherited skin disease, Netherton syndrome

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21 January 2018

Expression of human snRNA genes from beginning to end.

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21 January 2018

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

1 reference

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21 January 2018

Binding of DAZAP1 and hnRNPA1/A2 to an exonic splicing silencer in a natural BRCA1 exon 18 mutant

1 reference

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21 January 2018

Clinical expression and new SPINK5 splicing defects in Netherton syndrome: unmasking a frequent founder synonymous mutation and unconventional intronic mutations

1 reference

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A rational nomenclature for serine/arginine-rich protein splicing factors (SR proteins)

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Regulation of alternative pre-mRNA splicing by hnRNP A1 and splicing factor SF2

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Cooperative-binding and splicing-repressive properties of hnRNP A1.

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Genomic variants in exons and introns: identifying the splicing spoilers

1 reference

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21 January 2018

A new type of mutation causes a splicing defect in ATM.

1 reference

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21 January 2018

New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12.

1 reference

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21 January 2018

U1-snRNA-mediated rescue of mRNA processing in severe factor VII deficiency

1 reference

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21 January 2018

Rescue of coagulation factor VII function by the U1+5A snRNA.

1 reference

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21 January 2018

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

1 reference

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21 January 2018

Overexpression of adapted U1snRNA in patients' cells to correct a 5' splice site mutation in propionic acidemia

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21 January 2018

U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation

1 reference

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21 January 2018

An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22762

21 January 2018

SPINK5, the defective gene in netherton syndrome, encodes multiple LEKTI isoforms derived from alternative pre-mRNA processing

1 reference

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21 January 2018

Architecture of the spliceosome

1 reference

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Diffusion mechanisms in metallic supercooled liquids and glasses

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Mechanisms of alternative splicing regulation: insights from molecular and genomics approaches

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7 January 2021

based on heuristic

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Proteolytic activation cascade of the Netherton syndrome-defective protein, LEKTI, in the epidermis: implications for skin homeostasis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22762

7 January 2021

based on heuristic

inferred from DOI database lookup

A synonymous mutation in SPINK5 exon 11 causes Netherton syndrome by altering exonic splicing regulatory elements

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22762

7 January 2021

based on heuristic

inferred from DOI database lookup

The sound of silence: autosomal recessive congenital ichthyosis caused by a synonymous mutation in ABCA12

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22762

7 January 2021

based on heuristic

inferred from DOI database lookup

A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22762

7 January 2021

based on heuristic

inferred from DOI database lookup

A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22762

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.22762

1 reference

Europe PubMed Central

PubMed publication ID

7 September 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

7 September 2017

ResearchGate publication ID

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