E-viri
Recenzirano
-
Westin, Maria; Rekabdar, Elham; Blomstrand, Lena; Klintberg, Per; Jontell, Mats; Robledo‐Sierra, Jairo
Journal of oral pathology & medicine, February 2018, Letnik: 47, Številka: 2Journal Article
Background White sponge nevus is a rare autosomal dominant disorder that affects the non‐keratinised stratified squamous epithelium. Mutations in the genes that encode mucosa‐specific keratin‐4 and keratin‐13 are strongly linked to the manifestation of white sponge nevus. This study involved mutational analysis of the genes encoding keratin‐4 and keratin‐13 in two Swedish families with white sponge nevus. Methods The diagnosis of white sponge nevus was based on disease history, clinical characteristics of the lesions and, in the majority of the cases, histopathological examination. Samples were collected from the affected buccal mucosa using buccal swabs. DNA was subsequently extracted and amplified using touchdown‐PCR. The keratin‐4 and keratin‐13 genes were sequenced, and a genetic analysis was performed. Results A novel heterozygous missense mutation was identified in exon 1A of the keratin‐4 gene in Family 2. In addition, previously reported heterozygous missense mutations were identified in the keratin‐4 (E449K, A72V, Q156R, R208H) and keratin‐13 (L115P) genes in both families. Conclusion We describe a novel heterozygous missense mutation in the keratin‐4 gene of a Swedish family with white sponge nevus. Our results support the notion that mutations in keratin‐4 and keratin‐13 are the underlying cause of white sponge nevus.
![loading ... loading ...](themes/default/img/ajax-loading.gif)
Vnos na polico
Trajna povezava
- URL:
Faktor vpliva
Dostop do baze podatkov JCR je dovoljen samo uporabnikom iz Slovenije. Vaš trenutni IP-naslov ni na seznamu dovoljenih za dostop, zato je potrebna avtentikacija z ustreznim računom AAI.
Leto | Faktor vpliva | Izdaja | Kategorija | Razvrstitev | ||||
---|---|---|---|---|---|---|---|---|
JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
Baze podatkov, v katerih je revija indeksirana
Ime baze podatkov | Področje | Leto |
---|
Povezave do osebnih bibliografij avtorjev | Povezave do podatkov o raziskovalcih v sistemu SICRIS |
---|
Vir: Osebne bibliografije
in: SICRIS
To gradivo vam je dostopno v celotnem besedilu. Če kljub temu želite naročiti gradivo, kliknite gumb Nadaljuj.