Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

rAAV2-mediated restoration of LEKTI in LEKTI-deficient cells from Netherton patients.

Journal of dermatological science - 1 Mar 2011

Roedl Daniela, Oji Vinzenz, Buters Jeroen T M, Behrendt Heidrun, Braun-Falco Markus

Abstract excerpt

BACKGROUND: Netherton syndrome (NS, MIM 256500) is a potential live threatening autosomal-recessive skin disorder clinically characterized by the trias of congenital erythroderma, hair shaft anomalies and atopic diathesis. It is caused by mutations in the gene SPINK5 resulting in a deficiency of its processed protein named lympho-epithelial Kazal-type related inhibitor (LEKTI). LEKTI controls the activity of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adenoviridae
Share to Biopsy
Share to DNA, Complementary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Transfer Techniques

Share to Keratinocytes

Share to Proteinase Inhibitory Proteins, Secretory

Share to Serine Peptidase Inhibitor Kazal-Type 5

Share to Transfection

Source

Identifiers

PMID: 21251800
DOI: 10.1016/j.jdermsci.2010.12.004

Genes

SPINK5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

rAAV2-mediated restoration of LEKTI in LEKTI-deficient cells from Netherton patients.PMID 21251800Read ↗

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

SPINK5 and Netherton syndrome: novel mutations, demonstration of missing LEKTI, and differential expression of transglutaminases.Semantic proximity Read ↗

Immunological phenotype and skin modeling of Netherton syndrome.Semantic proximity Read ↗

Identification of Lympho-Epithelial Kazal-Type Inhibitor 2 in Human Skin as a Kallikrein-Related Peptidase 5-Specific Protease InhibitorSemantic proximity Read ↗

Clinical and genetic characterization of Netherton syndrome due to SPINK5 founder variant in Latvian population.Semantic proximity Read ↗

Netherton Syndrome: A Genotype-Phenotype Review.Semantic proximity Read ↗

A synonymous mutation in SPINK5 exon 11 causes Netherton syndrome by altering exonic splicing regulatory elements.Semantic proximity Read ↗

Netherton syndrome: mutation analysis of two Taiwanese families.Semantic proximity Read ↗

Netherton syndrome in two Japanese siblings with a novel mutation in the SPINK5 gene: immunohistochemical studies of LEKTI and other epidermal molecules.Semantic proximity Read ↗

Correlation between SPINK5 gene mutations and clinical manifestations in Netherton syndrome patients.Semantic proximity Read ↗

A heterozygous null mutation combined with the G1258A polymorphism of SPINK5 causes impaired LEKTI function and abnormal expression of skin barrier proteins.Semantic proximity Read ↗

A compound heterozygous mutation of the SPINK5 gene in a Taiwanese boy with Netherton syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.