crta
Hrvatska znanstvena Sekcija img
bibliografija
3 gif
 Naslovna
 O projektu
 FAQ
 Kontakt
4 gif
Pregledavanje radova
Jednostavno pretraživanje
Napredno pretraživanje
Skupni podaci
Upis novih radova
Upute
Ispravci prijavljenih radova
Ostale bibliografije
Slični projekti
 Bibliografske baze podataka

Pregled bibliografske jedinice broj: 489407

Zbornik radova

Autori: Musani, Vesna; Sabol, Maja; Car, Diana; Ozretic, Petar; Levanat, Sonja
Naslov: Investigation of PTCH1 promoter mutations and polymorphisms
( Investigation of PTCH1 promoter mutations and polymorphisms )
Izvornik: Eur J Hum Genet / van Ommen, G-J B (ur.). - Hampshire : Nature Publishing Group , 2010. 190-191.
ISSN: 1018-4813
Skup: European Human Genetics Conference 2010
Mjesto i datum: Göteborg, Švedska, 12-15.06.2010
Ključne riječi: PTCH1; promoter
( PTCH1; promoter )
Sažetak:
PTCH1 is a tumor suppressor gene, located at 9q22.3, encoding a 12-pass transmembrane glycoprotein, that acts as an antagonist in the Hedgehog signaling pathway. PTCH1 gene has 23 coding exons and several alternative forms of exon 1. PTCH1 is often mutated in Gorlin syndrome and various tumors, basal cell carcinomas in particular. Gorlin syndrome is a rare autosomal dominant disorder characterized with multiple basal cell carcinomas (BCCs), meduloblastomas, meningiomas, ovarian fibromas, jaw cysts, different developmental abnormalities, such as craniofacial alterations, bifid ribs, and polydactyly and syndactyly. Basal cell carcinoma (BCC) of the skin, the most common human cancer, shows a continuously increasing incidence, occurring predominantly on sun-exposed skin of elderly fair-skinned people. Several tumor suppressor genes and oncogenes have been implicated in the pathogenesis of BCCs, and most of them are members of the Hedgehog signaling pathway. In our previous research we discovered several new PTCH1 mutations and polymorphisms located in promoter region of exon 1b. Two new mutations: c.-892_-891CC>TT and c.-808C>T were discovered in BCCs and , new polymorphism c.-1184G>A was found in screening of Gorlin syndrome samples, healthy controls, BCCs and ovarian tumors. Additionally, two new alleles with 5 and 6 CGG repeats were discovered in the CGG repeat polymorphism in the 5’UTR region. We are continuing this research with the functional impact of these mutations and polymorphisms on the promoter activity and consequently on PTCH1 role in the pathway.
Rad je indeksiran u
bazama podataka:
Current Contents Connect (CCC)
MEDLINE
Scopus
SCI-EXP, SSCI i/ili A&HCI
Science Citation Index Expanded (SCI-EXP) (sastavni dio Web of Science Core Collectiona)
Vrsta sudjelovanja: Poster
Vrsta prezentacije u zborniku: Sažetak
Vrsta recenzije: Nema recenziju
Projekt / tema: 098-0982464-2461
Izvorni jezik: eng
Kategorija: Znanstveni
Znanstvena područja:
Temeljne medicinske znanosti
Upisao u CROSBI: vmusani@irb.hr (vmusani@irb.hr), 3. Stu. 2010. u 08:41 sati



Verzija za printanje   za tiskati


upomoc
foot_4