CCL

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1.

001-es BibID:BIBFORM045677
Első szerző:Góth László (analitikus)
Cím:Genetic heterogeneity in acatalasemia / Goth L., Pay A.
Dátum:1996
ISSN:0173-0835
Megjegyzések:203 bp long products containing exon 4 and its junctions from the catalase gene were generated by polymerase chain reaction (PCR). These products were analyzed by single strand conformational polymorphism (SSCP), hetero-duplex formation and nucleotide sequencing. No polymorphism was detected when the Hungarian acatalasemic sisters, their family members and normocatalasemic controls were analyzed. Sequence analyses did not show the G to A point mutation at position 5 of intron 4. This splicing mutation characterizes the Japanese-type of acatalasemia.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Hungarian acatalsemia
G to A splicing mutation
single strand conformational polymorphism
heteroduplex
nucleotide sequennce
Megjelenés:Electrophoresis. - 17 : 8 (1996), p. 1302-1303. -
További szerzők:Páy Anikó
Internet cím:Intézményi repozitóriumban (DEA) tárolt változat
DOI
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2.

001-es BibID:BIBFORM045675
Első szerző:Góth László (analitikus)
Cím:Further genetic heterogeneity in acatalasemia / Goth L.
Dátum:1997
ISSN:0173-0835
Megjegyzések:A T-deletion at position 10 of exon 4 for catalase gene was reported as a novel mutation, causing a new genetic type of acatalasemia in Japan. This mutation, destroying a Hinf1 recognition site, was searched for in Hungarian acatalasemic (2) and hypocatalasemic (22) patients and in controls (27) by Hinf1 digestion and sequence analyses of a 203 bp polymerase chain reaction (PCR) product containing the entire exon 4. The Hinf1 polymorphism did not reveal any difference between controls and hypocatalasemic as well as acatalasemic patients. These results were confirmed by sequence analyses showing the T nucleotide for the two acatalasemic and for one unrelated hypocatalasemic patient, as well as for two controls. These findings represent further evidence that acatalasemia is heterogeneous at the DNA level.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Hubgarian acatalasemia
hypocatalasemia
polymerase chain reaction
sequence analysis
Megjelenés:Electrophoresis. - 18 : 11 (1997), p. 1942-1943. -
Internet cím:Intézményi repozitóriumban (DEA) tárolt változat
DOI
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3.

001-es BibID:BIBFORM042794
Első szerző:Góth László (analitikus)
Cím:A novel catalase mutation detected by polymerase chain reaction-single strand conformation polymorphism, nucleotide sequencing, and Western blot analyses is responsible for the type C of Hungarian acatalasemia / László Góth, Péter Rass, Irén Madarasi
Dátum:2001
ISSN:0173-0835
Megjegyzések:Polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) screening was used for searching mutations of the catalase gene in two Hungarian hypocatalasemic families. A syndrome-causing mutation was found in a PCR product containing exon 7 and its boundaries. Nucleotide sequence analyses detected a G to T substitution at position 5 of intron 7. The effect of this splice site mutation was confirmed by Western blot analyses demonstrating a decreased catalase protein level in these patients. These findings represent a novel type (C) of catalase mutations in the Hungarian acatalasemic/hypocatalasemic patients.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Hungarian acatalasemia
nucleotide sequence
splicing mutation
polymerase chain reaction
single-strand conformation polymorphism
Megjelenés:Electrophoresis. - 22 : 1 (2001), p. 49-51. -
További szerzők:Rass Péter Madarasi Irén
Pályázati támogatás:TO 30154
OTKA
Internet cím:Intézményi repozitóriumban (DEA) tárolt változat
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4.

001-es BibID:BIBFORM012944
Első szerző:Góth László (analitikus)
Cím:Polymorphism of 5' of the catalase gene in Hungarian acatalasemia and hypocatalasemia / László Góth, Márta Vitai
Dátum:1997
Megjegyzések:The amplified fragment length polymorphism of Hinfl on the promoter region of the catalase gene in Hungarian acatalasemic and hypocatalasemic patients yielded three different patterns with five bands in total. The sequence analyses revealed A-to-T, C-to-A, and C-to-T mutations at positions -21, -20, and -18 upstream of the translational initiation site. The -21 A-to-T mutations were more frequent in acatalasemic and hypocatalasemic patients (3612) than in controls (18114). This mutation had been detected in Japanese acatalasemic patients while the other two are novel mutations. Two extra bands in the Hinfl pattern are due to star-like activity that cleaved a G/ATTT sequence at position -4 to 0 upstream of the initiation site.
Tárgyszavak:Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Hungarian acatalasemia
Hypocatalasemia
Hinfl
Nucleotide sequence
Star effect
Megjelenés:Electrophoresis. - 18 : 7 (1997), p. 1105-1108. -
További szerzők:Vitai Márta (1961-) (okleveles vegyész)
Internet cím:Intézményi repozitóriumban (DEA) tárolt változat
DOI
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5.

001-es BibID:BIBFORM012946
Első szerző:Góth László (analitikus)
Cím:Detection of a novel familial catalase mutation (Hungarian type D) and the possible risk of inherited catalase deficiency for diabetes mellitus / László Góth, Márta Vitai, Péter Rass, Eszter Sükei, Anikó Páy
Dátum:2005
Megjegyzések:The enzyme catalase is the main regulator of hydrogen peroxide metabolism. Recent findings suggest that a low concentration of hydrogen peroxide may act as a messenger in some signalling pathways whereas high concentrations are toxic for many cells and cell components. Acatalasemia is a genetically heterogeneous condition with a worldwide distribution. Yet only two Japanese and three Hungarian syndrome-causing mutations have been reported. A large-scale (23130 subjects) catalase screening program in Hungary yielded 12 hypocatalasemic families. The V family with four hypocatalasemics (60.6 ± 7.6 MU/L) and six normocatalasemic (103.6 ± 23.5 MU/L) members was examined to define the mutation causing the syndrome. Mutation screening yielded four novel polymorphisms. Of these, three intron sequence variations, namely GA at the nucleotide 60 position in intron 1, TA at position 11 in intron 2, and GT at position 31 in intron 12, are unlikely to be responsible for the decreased blood catalase activity. However, the novel GA mutation in exon 9 changes the essential amino acid Arg 354 to Cys 354 and may indeed be responsible for the decreased catalase activity. This inherited catalase deficiency, by inducing an increased hydrogen peroxide steady-state concentration in vivo, may be involved in the early manifestation of type 2 diabetes mellitus for the 35-year old proband.
Tárgyszavak:Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Blood catalase activity
Catalase mutation
Diabetes mellitus
Megjelenés:Electrophoresis. - 26 : 9 (2005), p. 1646-1649. -
További szerzők:Vitai Márta (1961-) (okleveles vegyész) Rass Péter Sükei Eszter Páy Anikó
Internet cím:DOI
Intézményi repozitóriumban (DEA) tárolt változat
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