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001-es BibID:	BIBFORM036961
Első szerző:	Szalai Eszter (orvos)
Cím:	Fibrillin-2, tenascin-C, matrilin-2, and matrilin-4 are strongly expressed in the epithelium of human granular and lattice type I corneal dystrophies / Szalai E., Felszeghy S., Hegyi Z., Módis L. Jr., Berta A., Kaarniranta K.
Dátum:	2012
ISSN:	1090-0535
Megjegyzések:	To determine the extracellular matrix proteins involved in the formation of human granular and lattice type I corneal stromal dystrophies, the expression patterns of fibrillin-2, tenascin-C, matrilin-2, and matrilin-4 were compared in human corneal stromal dystrophy samples. METHODS: Ten cases of granular dystrophy, 7 cases of lattice dystrophy, and 6 normal corneal buttons collected during corneal transplantation were examined for their expression patterns of fibrillin-2, tenascin-C, matrilin-2, and matrilin-4 by immunohistochemistry. RESULTS: Highly elevated fibrillin-2, tenascin-C, matrilin-2, and matrilin-4 were observed in the epithelial layer of both granular and lattice type I dystrophies. Fibrillin-2, tenascin-C, and matrilin-4 in the granular dystrophy and all antibodies in the lattice dystrophy showed statistically significant staining in the corneal stroma (p<0.05). Interestingly, fibrillin-2, matrilin-2, and matrilin-4 stained significantly in amyloid plaques of lattice type 1 dystrophy. CONCLUSIONS: Fibrillin-2, tenascin-C, matrilin-2, and matrilin-4 may be markers of the pathogenesis of either granular or lattice type I corneal dystrophy, as revealed by immunohistochemical analysis. Each molecule seems to be involved in the regeneration and reorganization of the corneal matrix in granular and lattice type I dystrophies.
Tárgyszavak:	Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:	Molecular Vision. - 18 (2012), p. 1927-1936. -
További szerzők:	Felszeghy Szabolcs Béla (1972-) (fogorvos, anatómus, kötőszövetbiológus) Hegyi Zoltán (1983-) (molekuláris biológus) Módis László (1964-) (szemész szakorvos, kontaktológus) Berta András (1955-) (szemész, gyermekszemész) Kaarniranta, Kai (1972-) (szemész szakorvos)
Internet cím:	Szerző által megadott URL Intézményi repozitóriumban (DEA) tárolt változat
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001-es BibID:	BIBFORM001214
Első szerző:	Takács Lili (szemész)
Cím:	TGFBI (BIGH3) gene mutations in Hungary-report of the novel F547S mutation associated with polymorphic corneal amyloidosis / Lili Takács, Gergely Losonczy, Klára Matesz, István Balogh, Zoltán Sohajda, Károly Tóth, Ferenc Fazakas, György Vereb, András Berta
Dátum:	2007
Megjegyzések:	To identify mutations in the Transforming Growth Factor Beta Induced (TGFBI) gene in Hungarian patients with corneal dystrophy and to characterize histological features of their corneal buttons excised during penetrating keratoplasty. METHODS: Exons of TGFBI were sequenced in 38 members of 15 unrelated families with corneal dystrophy and exon 12 was also sequenced in 100 healthy controls from the same population. Immunohistological analysis of available corneal buttons excised during penetrating keratoplasty was also performed. RESULTS: Molecular genetic analysis revealed a heterozygous R124C mutation in 18 patients with lattice type I dystrophy. A R555W heterozygous mutation was detected in five patients with granular Groenouw type I corneal dystrophy and a R555Q heterozygous mutation was found in four patients clinically diagnosed with Reis-Bucklers (one patient) and Thiel-Behnke (three patients) dystrophy. Three patients with "atypical granular" dystrophy later diagnosed as Avellino dystrophy were heterozygous for the R124H mutation. A novel heterozygous mutation (T1640C) causing a F547S amino acid exchange was detected in a patient with polymorphic corneal amyloidosis. Immunohistochemistry showed the presence of BIGH3 protein deposits in all examined corneal buttons. Electron microscopy confirmed the presence of amyloid fibrils in the case of the novel mutation. CONCLUSIONS: Our results indicate that molecular genetic analysis is required to confirm the diagnosis of corneal dystrophies. We report the first cases of Avellino dystrophy from Central-Eastern Europe. We conclude that the novel F547S mutation causes polymorphic corneal amyloidosis since no other mutations were detected in the TGFBI gene of this patient and the novel mutation could not be found in healthy controls.
Tárgyszavak:	Orvostudományok Természettudományok Klinikai orvostudományok Elméleti orvostudományok Biológiai tudományok idegen nyelvű folyóiratközlemény külföldi lapban TGFBI (BIGH3) gene mutation F547S polymorphic corneal amyloidosis
Megjelenés:	Molecular Vision. - 13 (2007), p. 1976-1983. -
További szerzők:	Losonczy Gergely (1977-) (szemész) Matesz Klára (1949-) (anatómus, neurobiológus) Balogh István (1972-) (molekuláris biológus, genetikus) Sohajda Zoltán (1969-) (szemész) Tóth Károly (orvos) Fazakas Ferenc (1969-) (molekuláris biológus) Vereb György (1965-) (biofizikus, orvos) Berta András (1955-) (szemész, gyermekszemész)
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