Determination of a new collagen type I alpha 2 gene point mutation which causes a Gly640 Cys substitution in osteogenesis imperfecta and prenatal diagnosis by DNA hybridisation

Autor: M C Digilio, Antonella Sangalli, Macarena Gomez-Lira, E Carnevale, A Giannotti, P.F. Pignatti, Monica Mottes

Publikováno v: Journal of Medical Genetics. 31:965-968

The molecular defect responsible for a sporadic case of extremely severe (type II/III) osteogenesis imperfecta was investigated. The mutation site was localised in the collagen type I pro alpha 2 mRNA molecules produced by the proband's skin fibrobla

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5b84410bce582d0cf1c403e7416d113
https://doi.org/10.1136/jmg.31.12.965

COX-2 promoter region polymorphisms in multiple sclerosis: lack of association of -765GC with disease risk

Autor: M. D. Benedetti, S. Ottaviani, M. Ortombina, P.F. Pignatti, Alessandro Salviati, Giovanni Malerba, M. Gomez Lira, S. Mazzola

Publikováno v: International journal of immunogenetics. 34(2)

Summary Cyclooxygenase-2 (COX-2) is extensively expressed in multiple sclerosis lesions suggesting that regulatory variants of the COX-2 gene could be implicated in multiple sclerosis (MS). Screening of the proximal 5′ regulatory region and genotyp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c1508076a83a67ade734af28190646e
https://pubmed.ncbi.nlm.nih.gov/17373929

CFTR and Cationic Trypsinogen Mutations in Idiopathic Pancreatitis and Neonatal Hypertrypsinemia

Autor: M. Gomez Lira, C. Patuzzo, C. Castellani, P. Bovo, G. Cavallini, G. Mastella, P.F. Pignatti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::eebc3881b159236202f5d670c0c6d14f
https://doi.org/10.1159/000070352

Characterization of a novel 21-kb deletion, CFTRdele2, 3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe

Autor: T. Dörk, M. Macek Jr, F. Mekus, B. Tümmler, J. Tzountzouris, T. Casals, A. Krebsová, M. Koudová, I. Sakmaryová, M. Macek Sr, V. Vávrová, D. Zemková, E. Ginter, N.V. Petrova, T. Ivaschenko, V. Baranov, M. Witt, A. Pogorzelski, J. Bal, C. Zékanowsky, K. Wagner, M. Stuhrmann, I. Bauer, H.H. Seydewitz, T. Neumann, S. Jakubiczka, C. Kraus, B. Thamm, M. Nechiporenko, L. Livshits, N. Mosse, G. Tsukerman, L. Kadási, M. Ravnik-Glavač, D. Glavač, R. Komel, K. Vouk, V. Kučinskas, A. Krumina, M. Teder, S. Kocheva, G.D. Efremov, T. Onay, B. Kirdar, G. Malone, M. Schwarz, Z. Zhou, K.J. Friedman, S. Carles, M. Claustres, D. Bozon, C. Verlingue, C. Férec, M. Tzetis, E. Kanavakis, H. Cuppens, C. Bombieri, P.F. Pignatti, F. Sangiuolo, A. Jordanova, J. Kusic, D. Radojkovič, J. Sertić, D. Richter, A. Stavljenić Rukavina, E. Bjorck, B. Strandvik, H. Cardoso, M. Montgomery, B. Nakielna, D. Hughes, X. Estivill, I. Aznarez, E. Tullis, L.-C. Tsui, J. Zielenski

Publikováno v: Scopus-Elsevier

We report a large genomic deletion of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, viz., a deletion that is frequently observed in Central and Eastern Europe. The mutation, termed CFTRdele2, 3(21 kb), deletes 21, 080 bp spanni

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08016ea87f1ed7bb9a372f37e3116267
https://www.bib.irb.hr/233049

Cystic fibrosis mutations in heterozygous newborns with hypertrypsinemia and low sweat chloride

Autor: P.F. Pignatti, M. G. Benetazzo, Carlo Castellani, G. Mastella, A. Bonizzato

Publikováno v: American journal of human genetics. 64(1)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aaa9d17526ccc89c498cb73680ae86ed
https://pubmed.ncbi.nlm.nih.gov/9915972