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001-es BibID:	BIBFORM033109
035-os BibID:	PMID:22130917
Első szerző:	Csomor Péter (biotechnológus)
Cím:	No evidence for disturbed COL1A1 and A2 expression in otosclerosis / Péter Csomor, Balázs Liktor, Bálint Liktor, István Sziklai, Tamás Karosi
Dátum:	2012
ISSN:	0937-4477
Megjegyzések:	Otosclerosis is a complex bone remodeling disorder of the human otic capsule that might be associated with various mutations of A1 and A2 alleles of type-I collagen. The study herein presented, investigates the possibilty of the genetic involvement of type-I collagen in the pathogenesis of histologically confirmed otosclerosis. A total of 55 ankylotic stapes footplates were analyzed. Cortical bone fragments (n = 30), incus (n = 3) and malleus (n = 2) specimens were employed as negative controls. Specimens were divided into two groups. The first group was processed using conventional H.E. hematoxylin-eosin (H.E.) staining and type-I collagen-specific immunofluorescent assay (IFA), while the second group was examined by COL1A1 and A2-specific RT-PCR. Otosclerotic- (n = 31) and non-otosclerotic stapes footplates (n = 9) as well as cortical bones (n = 20), incus (n = 2) and malleus specimens (n = 1) showed normal and quite similar A1 and A2 allele expression confirmed by IFA. RT-PCR analysis revealed normal and consistent mRNA expression of both alleles in each specimen. Expression levels and patterns of COL1A1/A2 alleles did not show significant correlation with the histological diagnosis of otosclerosis. Type-I collagen is a highly conserved structure protein, which plays a fundamental role in the integritiy of various connective tissues. Mutations of A1 and A2 alleles result in serious systemic disorders of the skeleton, tendons and skin. Since otosclerosis is an organ-specific disease, it is difficult to explain its genetic association with type-I collagen. In conclusion, we found no evidence supporting the putative link of COL1A1 and COL1A2 alleles with otosclerosis.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban COL1A1 COL1A2 Histology Immunofluorescent assay Otosclerosis RT-PCR egyetemen (Magyarországon) készült közlemény
Megjelenés:	European Archives Of Oto-Rhino-Laryngology. - 269 : 9 (2012), p. 2043-2051. -
További szerzők:	Liktor Balázs (1984-) Liktor Bálint Sziklai István (1954-) (fül-orr-gégész) Karosi Tamás (1979-) (fül-orr-gégész)
Pályázati támogatás:	OTKA PD75371 OTKA
Internet cím:	Szerző által megadott URL DOI Intézményi repozitóriumban (DEA) tárolt változat
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001-es BibID:	BIBFORM033103
035-os BibID:	PMID:19597833
Első szerző:	Csomor Péter (biotechnológus)
Cím:	Restriction analysis of otosclerosis-associated CD46 splicing variants / Csomor Péter, Szalmás Anita, Kónya József, Sziklai István, Karosi Tamás
Dátum:	2010
ISSN:	0937-4477
Megjegyzések:	Otosclerosis is a primary bone remodeling disorder of the human otic capsule and is associated with persistent measles virus infection. The human cellular receptor of measles virus is the membrane cofactor protein (MCP, CD46), which has 14 well-described splicing variants. Unique CD46 expression pattern of the otic capsule and the stapes footplate may determine the susceptibility for persistent measles virus infection. A total of 51 surgically removed ankylotic stapes footplates were analyzed by histopathological and molecular biological methods, respectively. Nucleic acids were extracted. Measles virus sequences were detected by nucleoprotein RNA-specific reverse transcriptase polymerase chain reaction (RT-PCR). Alternatively spliced RNA of CD46 isoforms was amplified by RT-PCR; cDNA amplimers were separated by SDS poly-acrylamide gel electrophoresis and were purified from the gel. Complementary DNA of CD46 isoforms was restricted by endonuclease enzymes having CD46-specific recognition sites. The presence of viral RNA was associated exclusively with the histopathological diagnosis of otosclerosis; the stapes specimens with negative measles virus belonged to non-otosclerotic stapes fixations. All specimens (N = 51) were characterized by the consecutive expression of five CD46 variants (c, d, e, f and one shorter unidentified isoform). Histologically confirmed ostosclerotic specimens (N = 21) were characterized by increased expression levels of variant "f" and the unknown isoform. Increased expression levels of these isoforms and special CD46 expression pattern of the human otic capsule might produce modified or pathological intracellular signalization that could create the possibility of persistent measles virus infection.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban CD46 Otosclerosis Measles Virus RT-PCR Restriction analysis egyetemen (Magyarországon) készült közlemény
Megjelenés:	European Archives of Oto-Rhino-Laryngology. - 267 : 2 (2010), p. 219-226. -
További szerzők:	Szalmás Anita (1978-) (biológus, mikrobiológus, klinikai mikrobiológus) Kónya József (1964-) (szakorvos, klinikai mikrobiológus) Sziklai István (1954-) (fül-orr-gégész) Karosi Tamás (1979-) (fül-orr-gégész)
Pályázati támogatás:	OTKA PD75371 OTKA
Internet cím:	Szerző által megadott URL DOI Intézményi repozitóriumban (DEA) tárolt változat
Borító:
Saját polcon: