Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss.
Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis.
Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family.
Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 (GJB3) gene.
The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3.
Complete sequencing and characterization of 21,243 full-length human cDNAs.
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The DNA sequence and biological annotation of human chromosome 1.
Connexin mutations in Brazilian patients with skin disorders with or without hearing loss.
A reference map of the human binary protein interactome.
Dual proteome-scale networks reveal cell-specific remodeling of the human interactome.
Human gap junction protein connexin31: molecular cloning and expression analysis.
Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis.
Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment.
Properties of human connexin 31, which is implicated in hereditary dermatological disease and deafness.
Differential expression of the gap junction proteins connexin45, -43, -40, -31, and -26 in mouse skin.
Gap junctions in the inner ear: comparison of distribution patterns in different vertebrates and assessement of connexin composition in mammals.
Differentiation of Keratinocytes in Interfollicular Epidermis in Mammalian Skin
Linker for activation of T-cells family member 1
UNC93-like protein MFSD11
Gap junction beta-3 protein
Catechol O-methyltransferase
Insulin-like growth factor-binding protein 5
Sigma intracellular receptor 2
Transmembrane and ubiquitin-like domain-containing protein 2
Trafficking regulator of GLUT4 1
LHFPL tetraspan subfamily member 5 protein
Butyrophilin subfamily 2 member A2
GTPase IMAP family member 5
Stress-associated endoplasmic reticulum protein 1
Gene Ontology annotation through association of InterPro records with GO terms
Annotation inferences using phylogenetic trees
Gene Ontology annotation based on UniProtKB subcellular location vocabulary mapping
Gene Ontology annotation based on curation of immunofluorescence data
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
Automatic assignment of GO terms using logical inference, based on on inter-ontology links
Combined Automated Annotation using Multiple IEA Methods
GJB3 source and assay boundaries