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

A null mutation in the cystatin M/E gene of ichq mice causes juvenile lethality and defects in epidermal cornification

22 Oct 2002

Abstract excerpt

Cystatin M/E (CST6 ), a new member of the cystatin gene family, has a restricted expression pattern in humans, which is largely limited to cutaneous epithelia. Although cystatin M/E possesses two distinct biochemical properties, being a cysteine proteinase inhibitor and a substrate for transglutaminase, its physiological function is unknown. Here we report the isolation and characterization of the mouse Cst6...

Read the complete abstract on PubMed

Topics

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

Share to Hair Growth and Disorders
Share to Skin and Cellular Biology Research
Share to Wnt/β-catenin signaling in development and cancer

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 12393798
DOI: 10.1093/hmg/11.23.2867

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A null mutation in the cystatin M/E gene of ichq mice causes juvenile lethality and defects in epidermal cornificationPMID 12393798Read ↗

Harlequin ichthyosis (ichq): a juvenile lethal mouse mutation with ichthyosiform dermatitis.Semantic proximity Read ↗

Defects in Stratum Corneum Desquamation Are the Predominant Effect of Impaired ABCA12 Function in a Novel Mouse Model of Harlequin Ichthyosis.Semantic proximity Read ↗

Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skinSemantic proximity Read ↗

Loss-of-function mutations in CST6 cause dry skin, desquamation and abnormal keratosis without hypotrichosis.Semantic proximity Read ↗

Knocking-in the R142C mutation in transglutaminase 1 disrupts the stratum corneum barrier and postnatal survival of mice.Semantic proximity Read ↗

Mutations at the mouse ichthyosis locus are within the lamin B receptor gene: a single gene model for human Pelger-Huët anomaly.Semantic proximity Read ↗

Salivary (SD-type) cystatins: over one billion years in the making--but to what purpose?Semantic proximity Read ↗

Loss of Cysteine-Rich Secretory Protein 4 (Crisp4) Leads to Deficiency in Sperm-Zona Pellucida Interaction in Mice1Semantic proximity Read ↗

Abnormal transglutaminase 1 expression pattern in a subset of patients with erythrodermic autosomal recessive ichthyosis.Semantic proximity Read ↗

Autosomal Ichthyosis with Hypotrichosis Syndrome Displays Low Matriptase Proteolytic Activity and Is Phenocopied in ST14 Hypomorphic MiceSemantic proximity Read ↗

Polymorphism analysis of JRK/JH8, the human homologue of mouse jerky, and description of a rare mutation in a case of CAE evolving to JME.Semantic proximity Read ↗

An E-cadherin endocytic mutant rescues the severe epidermal p120-catenin null phenotype.Semantic proximity Read ↗

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