A synonymous mutation in SPINK5 exon 11 causes Netherton syndrome by altering exonic splicing regulatory elements (Q62513320)

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24 January 2020

title

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

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24 January 2020

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24 January 2020

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24 January 2020

Paola Fortugno

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24 January 2020

Fabiana Grosso

series ordinal

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24 January 2020

Giovanna Zambruno

series ordinal

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24 January 2020

Daniele Castiglia

series ordinal

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24 January 2020

publication date

1 March 2012

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Journal of Human Genetics

24 January 2020

published in

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24 January 2020

volume

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issue

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24 January 2020

page(s)

311-315

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Netherton syndrome: a case report and review of the literature

24 January 2020

cites work

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7 January 2021

Severe congenital generalized exfoliative erythroderma in newborns and infants: a possible sign of Netherton syndrome

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Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome

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

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Inhibition of serine proteinases plasmin, trypsin, subtilisin A, cathepsin G, and elastase by LEKTI: a kinetic analysis

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LEKTI fragments specifically inhibit KLK5, KLK7, and KLK14 and control desquamation through a pH-dependent interaction

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Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families

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A new SPINK5 donor splice site mutation in siblings with Netherton syndrome

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New homozygous SPINK5 mutation, p.Gln333X, in a Turkish pedigree with Netherton syndrome

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A New SPINK5 Mutation in a Patient with Netherton Syndrome: A Case Report

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Correlation between SPINK5 gene mutations and clinical manifestations in Netherton syndrome patients

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Serine protease activity and residual LEKTI expression determine phenotype in Netherton syndrome

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

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SPINK5 and Netherton syndrome: novel mutations, demonstration of missing LEKTI, and differential expression of transglutaminases

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Compound heterozygosity for an out-of-frame deletion and a splice site mutation in the LAMB3 gene causes nonlethal junctional epidermolysis bullosa

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

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

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Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: a synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer

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7 January 2021

Splicing regulation: from a parts list of regulatory elements to an integrated splicing code

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Distribution of exonic splicing enhancer elements in human genes

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Evidence for Purifying Selection Against Synonymous Mutations in Mammalian Exonic Splicing Enhancers

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Genomic features defining exonic variants that modulate splicing

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

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Systematic identification and analysis of exonic splicing silencers.

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A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes

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

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7 January 2021

Predictive identification of exonic splicing enhancers in human genes

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7 January 2021

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

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7 January 2021

SMN2 exon 7 splicing is inhibited by binding of hnRNP A1 to a common ESS motif that spans the 3' splice site

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7 January 2021

Two silent substitutions in the PDHA1 gene cause exon 5 skipping by disruption of a putative exonic splicing enhancer

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7 January 2021

An exon splice enhancer mutation causes autosomal dominant GH deficiency

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Chemical treatment enhances skipping of a mutated exon in the dystrophin gene

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

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7 January 2021

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

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7 January 2021