prikaz prve stranice dokumenta Involvement of Patched (PTCH) gene in Gorlin Syndrome and Related Disorders: Three Family Cases
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Scientific paper - Case study
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

Institutional repository: University of Zagreb School of Dental Medicine Repository

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Šitum, M., Levanat, S., Crnić, I., Pavelić, B., Macan, D., Grgurević, J. & Mubrin, M. (1999). Involvement of Patched (PTCH) gene in Gorlin Syndrome and Related Disorders: Three Family Cases. Croatian medical journal, 40. (4), 533-538. Retrieved from 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, no. 4, 1999, pp. 533-538. https://urn.nsk.hr/urn:nbn:hr:127:359827

Šitum, Mirna, Sonja Levanat, Ivana Crnić, Božidar Pavelić, Darko Macan, Jakša Grgurević and Mirjana Mubrin. "Involvement of Patched (PTCH) gene in Gorlin Syndrome and Related Disorders: Three Family Cases." Croatian medical journal 40, no. 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), pp. 533-538. Available at: https://urn.nsk.hr/urn:nbn:hr:127:359827 (Accessed 23 November 2024)

Šitum M, Levanat S, Crnić I, Pavelić B, Macan D, Grgurević J, and sur.. Involvement of Patched (PTCH) gene in Gorlin Syndrome and Related Disorders: Three Family Cases. Croatian medical journal [Internet]. 1999 [cited 2024 November 23];40(4):533-538. Available at: 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, no. 4, pp. 533-538, 1999. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:127:359827. [Accessed: 23 November 2024]

Metadata
Title (english)Involvement of Patched (PTCH) gene in Gorlin Syndrome and Related Disorders: Three Family Cases
AuthorMirna Šitum
AuthorSonja Levanat
AuthorIvana Crnić
AuthorBožidar Pavelić
AuthorDarko Macan
AuthorJakša Grgurević
AuthorMirjana Mubrin
Author's institutionRuđer Bošković Institute
Author's institution(Sestre milosrdnice University Hospital Center)
Author's institutionUniversity of Zagreb
School of Dental Medicine
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Dental Medicine
Abstract (english)
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
Keywords (english)
Languageenglish
Publication typeScientific paper - Case study
Publication statusPublished
Peer reviewPeer review
Publication versionPublished version
Journal titleCroatian medical journal
Numberingvol. 40, no. 4, pp. 533-538
p-ISSN0353-9504
URN:NBNurn:nbn:hr:127:359827
Publication1999
Document URLhttp://bib.irb.hr/1170847
Type of resourceText
Access conditionsOpen access
Terms of useLicence In copyright icon
Created on2022-11-07 12:24:20