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001-es BibID:	BIBFORM039640
Első szerző:	Pfister, Markus
Cím:	A 4bp-insertion in the eya-homologous region (eyaHR) of EYA4 causes hearing impairment in a Hungarian family linked to DFNA10 / Markus Pfister, Tímea Tóth, Holger Thiele, Birgit Haack, Nikolaus Blin, Hans-Peter Zenner, István Sziklai, Peter Nürnberg, Susan Kupka
Dátum:	2002
Megjegyzések:	BACKGROUND: Hereditary hearing impairment (HHI) is a heterogeneous class of disorders that shows various patterns of inheritance and involves a multitude of different genes. Mutations in the EYA4 gene are responsible for postlingual, progressive, autosomal dominant hearing loss at the DFNA10 locus. EYA4 is orthologous to the Drosophila gene eya ("eyes absent"), a key regulator of eye formation. EYA4 plays an important role in several developmental processes. MATERIAL AND METHODS: Here we report a Hungarian family displaying sensorineural, progressive hearing impairment. The family comprising four generations with 11 affected and 8 unaffected members was subjected to genome-wide linkage analysis and candidate gene sequencing. RESULTS: By linkage analysis, the chromosomal region 6q22.3 was shown to segregate with the disease. Mutation analysis of the EYA4 gene, which maps to 6q22.3, revealed an insertion of 4 bp (1558insTTTG) in all affected family members. This insertion creates a frameshift and results in a stop codon at position 379. Hence, nearly the complete "eya homologous region" (eyaHR), which is essential for the protein function, would be deleted in the mutant EYA4 protein if the transcription were found to be stable. CONCLUSIONS: This family is the third one linked to DFNA10 and revealing a mutation in the EYA4 gene. In all three families, the mutations are localized in different regions of the eyaHR, suggesting that this protein contains several functional subregions with different tissue-specific importance.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban külföldön készült közlemény
Megjelenés:	Molecular Medicine. - 8 : 10 (2002), p. 607-611. -
További szerzők:	Thiele, Holger Haack, Birgit Blin, Nikolaus Zenner, Hans-Peter Nürnberg, Peter Kupka Zsuzsanna (fül-orr-gégész Németország) Tóth Tímea (1974-) (fül-orr-gégész) Sziklai István (1954-) (fül-orr-gégész)
Internet cím:	Szerző által megadott URL Intézményi repozitóriumban (DEA) tárolt változat
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001-es BibID:	BIBFORM006803
Első szerző:	Tóth Tímea (fül-orr-gégész)
Cím:	GJB2 mutations in patients with non-syndromic hearing loss from Northeastern Hungary / Toth, T., Kupka, S., Haack, B., Riemann, K., Braun, S., Fazakas, F., Zenner, H. P., Muszbek, L., Blin, N., Pfister, M., Sziklai, I.
Dátum:	2004
ISSN:	1098-1004
Megjegyzések:	Mutations in the GJB2 gene encoding the gap-junction protein connexin 26 have been identified in many patients with childhood hearing impairment (HI). One single mutation, c.35delG, accounts for the majority of mutations in Caucasian patients with HI. In the present study we screened 500 healthy control individuals and a group of patients with HI from Northeastern Hungary for GJB2 mutations. The patients' group consisted of 102 familial from 28 families and 92 non-familial cases. The most common mutation in the Hungarian population is the c.35delG, followed by the c.71G>A (p.W24X) mutation. 34.3% of the patients in the familial group were homozygous, and 17.6% heterozygous for 35delG. In the non-familial group the respective values were 37% and 18% (allele frequency: 46.2%). In the general population an allele frequency of 2.4% was determined. Several patients were identified with additional, already described or new GJB2 mutations, mostly in heterozygous state. The mutation c.380G>A (p.R127H) was formerly found only in heterozygous state and its disease relation was controversial. We demonstrated the presence of this mutation in a family with three homozygous patients and 4 heterozygous unaffected family members, a clear indication of recessively inherited HI. Furthermore, we provided evidence for the pathogenic role of two new mutations, c.51C>A (p.S17Y) and c.177G>T (p.G59V), detected in the present study. In the latter case the pattern of inheritance might be dominant. Our results confirm the importance of GJB2 mutations in the Hungarian population displaying mutation frequencies that are comparable with those in the Mediterranean area.
Tárgyszavak:	Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban Adolescent Adult Aged Child Child, Preschool Connexins DNA Mutational Analysis Female Gene Frequency Hearing Loss Humans Hungary Infant Male Middle Aged Mutation Pedigree
Megjelenés:	Human Mutation. - 23 : 6 (2004), p. 631-632. -
További szerzők:	Kupka Zsuzsanna (fül-orr-gégész Németország) Haack, Birgit Riemann, Kathrin Braun, Simone Fazakas Ferenc (1969-) (molekuláris biológus) Zenner, Hans-Peter Muszbek László (1942-) (haematológus, kutató orvos) Blin, Nikolaus Pfister, Markus Sziklai István (1954-) (fül-orr-gégész)
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001-es BibID:	BIBFORM002133
Első szerző:	Tóth Tímea (fül-orr-gégész)
Cím:	Coincidence of mutations in different connexin genes in Hungarian patients / Tóth T., Kupka S., Haack B., Fazakas F., Muszbek L., Blin N., Pfister M., Sziklai I.
Dátum:	2007
Tárgyszavak:	Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:	International Journal of Molecular Medicine. - 20 : 3 (2007), p. 315-321. -
További szerzők:	Kupka Zsuzsanna (fül-orr-gégész Németország) Haack, Birgit Blin, Nikolaus Pfister, Markus Sziklai István (1954-) (fül-orr-gégész) Fazakas Ferenc (1969-) (molekuláris biológus) Muszbek László (1942-) (haematológus, kutató orvos)
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