Pretražite po imenu i prezimenu autora, mentora, urednika, prevoditelja

Napredna pretraga

Pregled bibliografske jedinice broj: 124236

Clinical case of acral hemorrhagic Darier's disease is not caused by mutations in exon 15 of


Pećina-Šlaus, Nives; Milavec-Puretić, Višnja; Kubat, Milovan; Furač, Ivana; Karija, Monika; Lipozenčić, Jasna; Fischer-Žigmund, Martina
Clinical case of acral hemorrhagic Darier's disease is not caused by mutations in exon 15 of // Collegium Antropologicum, 27 (2003), 125-133 (međunarodna recenzija, članak, znanstveni)


CROSBI ID: 124236 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Clinical case of acral hemorrhagic Darier's disease is not caused by mutations in exon 15 of
(Clinical case of acral hemorrhagic Darier's disease is not caused by mutations in exon 15 of the ATP2A2 gene)

Autori
Pećina-Šlaus, Nives ; Milavec-Puretić, Višnja ; Kubat, Milovan ; Furač, Ivana ; Karija, Monika ; Lipozenčić, Jasna ; Fischer-Žigmund, Martina

Izvornik
Collegium Antropologicum (0350-6134) 27 (2003); 125-133

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
keratosis follicularis; Darier's disease; ATP2A2 gene

Sažetak
Darier's disease (Dyskeratosis follicularis, DD) is a genetic disorder characterized by pathogenetic changes of keratinization with variant forms of cutaneous phenotype. Recently, it has been showed that Darier's disease cause mutations in the ATP2A2 gene, at 12q24.1. The gene encodes sarco-endoplasmic reticulum calcium ATPase type 2 (SERCA2). Mutations in exon 15 are reported to be the most consistent mutations associated with the acral hemorrhagic type of Darier's disease. By direct sequencing we investigated exon 15 of the ATP2A2 gene in a Croatian family in which one member had a hemorrhagic Darier's disease, but did not record any mutation in the family we investigated. Our results show that mutations in exon 15 of the ATP2A2 gene are not a necessary prerequisite for acral hemorrhagic type of Darier's disease. Our finding support the variability of clinical manifestations of Darier's disease and lack of genotype/phenotype consistency.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti



POVEZANOST RADA


Projekti:
0108215

Ustanove:
Medicinski fakultet, Zagreb

Citiraj ovu publikaciju

Pećina-Šlaus, Nives; Milavec-Puretić, Višnja; Kubat, Milovan; Furač, Ivana; Karija, Monika; Lipozenčić, Jasna; Fischer-Žigmund, Martina
Clinical case of acral hemorrhagic Darier's disease is not caused by mutations in exon 15 of // Collegium Antropologicum, 27 (2003), 125-133 (međunarodna recenzija, članak, znanstveni)
Pećina-Šlaus, N., Milavec-Puretić, V., Kubat, M., Furač, I., Karija, M., Lipozenčić, J. & Fischer-Žigmund, M. (2003) Clinical case of acral hemorrhagic Darier's disease is not caused by mutations in exon 15 of. Collegium Antropologicum, 27, 125-133.
@article{article, year = {2003}, pages = {125-133}, keywords = {keratosis follicularis, Darier's disease, ATP2A2 gene}, journal = {Collegium Antropologicum}, volume = {27}, issn = {0350-6134}, title = {Clinical case of acral hemorrhagic Darier's disease is not caused by mutations in exon 15 of}, keyword = {keratosis follicularis, Darier's disease, ATP2A2 gene} }
@article{article, year = {2003}, pages = {125-133}, keywords = {keratosis follicularis, Darier's disease, ATP2A2 gene}, journal = {Collegium Antropologicum}, volume = {27}, issn = {0350-6134}, title = {Clinical case of acral hemorrhagic Darier's disease is not caused by mutations in exon 15 of the ATP2A2 gene}, keyword = {keratosis follicularis, Darier's disease, ATP2A2 gene} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Social Science Citation Index (SSCI)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE





Contrast
Increase Font
Decrease Font
Dyslexic Font