prikaz prve stranice dokumenta Involvement of Patched (PTCH) gene in Gorlin Syndrome and Related Disorders: Three Family Cases
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Involvement of Patched (PTCH) gene in Gorlin Syndrome and Related Disorders: Three Family Cases
Croatian medical journal, 40 (1999), 4; 533-538. urn:nbn:hr:127:359827
Šitum, Mirna; Levanat, Sonja; Crnić, Ivana; Pavelić, Božidar; Macan, Darko; Grgurević, Jakša; Mubrin, Mirjana

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Šitum, M., Levanat, S., Crnić, I., Pavelić, B., Macan, D., Grgurević, J. i Mubrin, M. (1999). Involvement of Patched (PTCH) gene in Gorlin Syndrome and Related Disorders: Three Family Cases. Croatian medical journal, 40. (4), 533-538. Preuzeto s https://urn.nsk.hr/urn:nbn:hr:127:359827

Šitum, Mirna, et al. "Involvement of Patched (PTCH) gene in Gorlin Syndrome and Related Disorders: Three Family Cases." Croatian medical journal, vol. 40, br. 4, 1999, str. 533-538. https://urn.nsk.hr/urn:nbn:hr:127:359827

Šitum, Mirna, Sonja Levanat, Ivana Crnić, Božidar Pavelić, Darko Macan, Jakša Grgurević i Mirjana Mubrin. "Involvement of Patched (PTCH) gene in Gorlin Syndrome and Related Disorders: Three Family Cases." Croatian medical journal 40, br. 4 (1999): 533-538. https://urn.nsk.hr/urn:nbn:hr:127:359827

Šitum, M., et al. (1999) 'Involvement of Patched (PTCH) gene in Gorlin Syndrome and Related Disorders: Three Family Cases', Croatian medical journal, 40(4), str. 533-538. Preuzeto s: https://urn.nsk.hr/urn:nbn:hr:127:359827 (Datum pristupa: 18.04.2024.)

Šitum M, Levanat S, Crnić I, Pavelić B, Macan D, Grgurević J, i sur.. Involvement of Patched (PTCH) gene in Gorlin Syndrome and Related Disorders: Three Family Cases. Croatian medical journal [Internet]. 1999. [pristupljeno 18.04.2024.];40(4):533-538. Dostupno na: https://urn.nsk.hr/urn:nbn:hr:127:359827

M. Šitum, et al., "Involvement of Patched (PTCH) gene in Gorlin Syndrome and Related Disorders: Three Family Cases", Croatian medical journal, vol. 40, br. 4, str. 533-538, 1999. [Online]. Dostupno na: https://urn.nsk.hr/urn:nbn:hr:127:359827. [Citirano: 18.04.2024.]

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Naslov (engleski)Involvement of Patched (PTCH) gene in Gorlin Syndrome and Related Disorders: Three Family Cases
AutorMirna Šitum
AutorSonja Levanat
AutorIvana Crnić
AutorBožidar Pavelić
AutorDarko Macan
AutorJakša Grgurević
AutorMirjana Mubrin
Autorova ustanovaInstitut Ruđer Bošković
Autorova ustanova(Klinički bolnički centar Sestre milosrdnice)
Autorova ustanovaSveučilište u Zagrebu
Stomatološki fakultet
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Dentalna medicina
Sažetak (engleski)
Aim: To find genetic alterations in PTC or other genes of the Shh/PTCH pathway in tumorous and non- tumorous samples from three families and to correlate them with the varying expression of disorders in presented nevoid basal cell carcinoma syndrome (NBCCS) phenotypes. Method: DNA was extracted from archival paraffin- embedded tissues, tumor tissue or peripheral blood leukocytes, and the loss of heterozygosity (LOH) and single strand conformational polymorphism analysis was performed using PCR with primers for polymorphic 9q22.3 markers (D9S196, D9S287, D9S180, D9S127) ; PTCH exons 3, 6, 8, 13, 15, 16 ; and smo (smoothened) exon 1. G-banding tecnique was used for cytogenetic analysis of the peripheral blood lymphocytes. Results: We found a LOH for PTCH in several cases and variability in smo in one case. In one case NBCCS could reasonably be ascribed to hemizygous PTCH inactivation, while in other two families this typical correlation between the syndrome phenotype and the observed genetic alterations could not been established. Conclusions: Further analysis of relatively sparse cases of NBCCS is needed before the symptoms of the syndrome could be convincingly explained by genetic alterations in the Shh/PTCH signalling pathway
Ključne riječi (engleski)
Jezikengleski
Vrsta publikacijeZnanstveni rad - Prikaz slučaja
Status objaveObjavljen
Vrsta recenzijeRecenziran
Verzija publikacijeObjavljena verzija rada (izdavačev PDF)
Naslov časopisaCroatian medical journal
Brojčani podacivol. 40, br. 4, str. 533-538
p-ISSN0353-9504
URN:NBNurn:nbn:hr:127:359827
Datum objave publikacije1999
URL dokumentahttp://bib.irb.hr/1170847
Vrsta resursaTekst
Prava pristupaOtvoreni pristup
Uvjeti korištenjaIkona licence Zaštićeno autorskim pravom.
Datum i vrijeme pohrane2022-11-07 12:24:20