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1.

001-es BibID:BIBFORM038829
Első szerző:Erdős Melinda (infektológus, gyermekimmunológus)
Cím:Characterization of a new disease-causing mutation of SH2D1A in a family with X-linked lymphoproliferative disease / Erdős M., Uzvölgyi E., Nemes Z., Török O., Rákóczi E., Went-Sümegi N., Sümegi J., Maródi L.
Dátum:2005
ISSN:1059-7794
Megjegyzések:Males with an expressed mutation in the SH2D1A gene that encodes an SH2 domain protein named SH2D1A or SAP (NP_002342; signaling lymphocyte activating molecule [SLAM]-associated protein), have an X-linked syndrome characterized by an increased vulnerability to infection with Epstein-Barr virus (EBV). We evaluated two related male patients with fatal infectious mononucleosis (FIM) and mutation in the SH2D1A gene. Sequence analysis revealed a hemizygous c.47G>A mutation in one of the patients, and heterozygosity for this mutation in the genomic DNA from his mother and maternal grandmother. This mutation resulted in p.G16D amino acid change in the sequence of the SAP protein. To analyze the effect of this missense mutation on protein function cDNA was generated by site-directed mutagenesis and expressed in COS cells. We found that half-life of the p.G16D protein was comparable to that of wild type SAP. However, the mutant protein was defective in binding to its physiological ligands SLAM and 2B4. These results suggest that a defect in ligand binding contributes to the loss of function of the SAP protein in patients carrying p.G16D mutation.
Tárgyszavak:Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:Human Mutation. - 25 : 5 (2005), p. 506. -
További szerzők:Uzvölgyi Éva Nemes Zoltán Török Olga (1956-) (szülész-nőgyógyász, humángenetikus) Rákóczi Éva (1962-) (klinikai szakorvos) Went-Sümegi, Nils Sümegi János Maródi László (1949-) (gyermekgyógyász infektológus, immunológus)
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2.

001-es BibID:BIBFORM039509
Első szerző:Kupka Zsuzsanna (fül-orr-gégész Németország)
Cím:Mutation A1555G in the 12S rRNA gene and its epidemiological importance in German, Hungarian, and Polish patients / Kupka Susan, Tóth Tímea, Wróbel Maciej, Zeissler Ulrike, Szyfter Witold, Szyfter Krzysztof, Niedzielska Grazyna, Bal Jerzy, Zenner Hans-Peter, Sziklai István, Blin Nikolaus, Pfister Markus
Dátum:2002
ISSN:1059-7794
Megjegyzések:The A1555G mutation in the 12SrRNA gene has been associated with aminoglycoside induced and nonsyndromic sensorineural hearing impairment. In this study we analyzed Hungarian, Polish and German patients with nonsyndromic severe to profound hearing impairment of unknown origin for this mutation. The frequency of the A1555G mutation in the Hungarian hearing impaired population was below 1.8 %. Three out of 125 Polish patients carrying the A1555G mutation were identified. Among German patients one carrier was found (0.7 %) revealing a homoplastic A1555G mutation, whereas no mutation was detected in control individuals with normal hearing (frequency < 0.6%). In summary the frequencies of the A1555G mutation are low in the hearing impaired as well as in the normal population in Hungary, Poland and Germany. Since the importance of this mutation and its relationship with aminoglycoside exposure is not well understood yet, patients with nonsyndromic hearing impairment should be routinely screened for this mutation to avoid aminoglycoside induced hearing impairment due to increased sensitivity of maternal relatives.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:Human Mutation. - 19 : 3 (2002), p. 308-309. -
További szerzők:Tóth Tímea (1974-) (fül-orr-gégész) Wróbel, Maciej Zeissler, Ulrike Szyfter, Witold Szyfter, Krzysztof Niedzielska, Grazyna Bal, Jerzy Zenner, Hans-Peter Sziklai István (1954-) (fül-orr-gégész) Blin, Nikolaus Pfister, Markus
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3.

001-es BibID:BIBFORM083521
Első szerző:Lessel, Davor
Cím:POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome / Davor Lessel, Fuki M. Hisama, Katalin Szakszon, Bidisha Saha, Alexander Barrios Sanjuanelo, Bonnie A. Salbert, Pamela D. Steele, Jennifer Baldwin, W. Ted Brown, Charles Piussan, Henri Plauchu, Judit Szilvássy, Edit Horkay, Josef Högel, George M. Martin, Alan J. Herr, Junko Oshima, Christian Kubisch
Dátum:2015
ISSN:1059-7794 1098-1004
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
folyóiratcikk
Megjelenés:Human Mutation. - 36 : 11 (2015), p. 1070-1079. -
További szerzők:Hisama, Fuki M. Szakszon Katalin (1977-) (csecsemő- és gyermekgyógyász, klinikai genetikus) Saha, Bidisha Sanjuanelo, Alexander Barrios Salbert, Bonnie A. Steele, Pamela D. Baldwin, Jennifer Brown, W. Ted Piussan, Charles Plauchu, Henri Szilvássy Judit (1960-2022) (fül- orr- gégész) Horkay Edit Högel, Josef Martin, George M. Herr, Alan J. Oshima, Junko Kubisch, Christian
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4.

001-es BibID:BIBFORM055200
Első szerző:Mercimek-Mahmutoglu, Saadet
Cím:Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene / Saadet Mercimek-Mahmutoglu, Joseph Ndika, Warsha Kanhai, Thierry Billette de Villemeur, David Cheillan, Ernst Christensen, Nathalie Dorison, Vickie Hannig, Yvonne Hendriks, Floris C. Hofstede, Laurence Lion-Francois, Allan M. Lund, Helen Mundy, Gaele Pitelet, Miquel Raspall-Chaure, Jessica A. Scott-Schwoerer, Katalin Szakszon, Vassili Valayannopoulos, Monique Williams, Gajja S. Salomons
Dátum:2014
ISSN:1059-7794 1098-1004
Megjegyzések:Guanidinoacetate methyltransferase deficiency (GAMT-D) is an autosomal recessively inherited disorder of creatine biosynthesis. Creatine deficiency on cranial proton magnetic resonance spectroscopy, and elevated guanidinoacetate levels in body fluids are the biomarkers of GAMT-D. In 74 patients, 50 different mutations in the GAMT gene have been identified with missense variants being the most common. Clinical and biochemical features of the patients with missense variants were obtained from their physicians using a questionnaire. In 20 patients, 17 missense variants, 25% had a severe, 55% a moderate, and 20% a mild phenotype. The effect of these variants on GAMT enzyme activity was overexpressed using primary GAMT-D fibroblasts: 17 variants retained no significant activity and are therefore considered pathogenic. Two additional variants, c.22C>A (p.Pro8Thr) and c.79T>C (p.Tyr27His) (the latter detected in control cohorts) are in fact not pathogenic as these alleles restored GAMT enzyme activity, although both were predicted to be possibly damaging by in silico analysis. We report 13 new patients with GAMT-D, six novel mutations and functional analysis of 19 missense variants, all being included in our public LOVD database. Our functional assay is important for the confirmation of the pathogenicity of identified missense variants in the GAMT gene.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:Human Mutation. - 35 : 4 (2014), p. 462-469. -
További szerzők:Ndika, Joseph Kanhai, Warsha de Villemeur, Thierry Billette Cheillan, David Christensen, Ernst Dorison, Nathalie Hannig, Vickie Hendriks, Yvonne Hofstede, Floris C. Lion-Francois, Laurence Lund, Allan M. Mundy, Helen Pitelet, Gaele Raspall-Chaure, Miquel Scott-Schwoerer, Jessica A. Szakszon Katalin (1977-) (csecsemő- és gyermekgyógyász, klinikai genetikus) Valayannopoulos, Vassili Williams, Monique Salomons, Gajja S.
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5.

001-es BibID:BIBFORM006787
Első szerző:Peyvandi, Flora
Cím:Phenotype-genotype characterization of 10 families with severe a subunit factor XIII deficiency / Peyvandi, F., Tagliabue, L., Menegatti, M., Karimi, M., Komaromi, I., Katona, E., Muszbek, L., Mannucci, P. M.
Dátum:2004
ISSN:1059-7794
Megjegyzések:Factor XIII (FXIII) deficiency is a very rare severe autosomal bleeding disorder with a frequency of 1:2,000,000 in the general population and only a few patients have been genetically characterized so far. We report a phenotype-genotype characterization of 10 unrelated Iranian patients. Two FXIII (transglutaminase) activity assays showed no FXIII activity, except a conserved residual activity in patients receiving prophylactic substitution treatment. FXIII antigen concentrations measured by two immunoassays were comparable. Genotype characterization identified four novel mutations (2 missense and 2 small deletions) and two previously reported missense mutations in the FXIII A subunit gene (F13A). Molecular modeling was carried out to reveal the structural consequences of the missense mutations, that caused the replacement of an arginine residue involved in the formation of structurally important extensive hydrogen-bonded network. The replacements [c.320G>A (p.Arg77His) in the beta-sandwich, c.868C>T (p.Arg260Cys), c.869G>A (p.Arg260His) and c.1236G>T (p.Arg382Ser) in the core domain] resulted in the loss or impairment of such H-bonded network. Energy decomposition analysis demonstrated that this situation leads to the instability and perhaps to the incorrect folding of the A subunit, that would explain the development of severe FXIII deficiency.
Tárgyszavak:Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Adult
Child
Child, Preschool
DNA Mutational Analysis
Factor XIII
Factor XIII Deficiency
Female
Genotype
Humans
Male
Middle Aged
Models, Molecular
Mutation, Missense
Phenotype
Megjelenés:Human mutation. - 23 : 1 (2004), p. 98-107. -
További szerzők:Tagliabue, Liliana Menegatti, Marzia Karimi, Mehran Komáromi István (1957-) (vegyész, molekuláris biológus, biokémikus) Katona Éva (1961-) (klinikai biokémikus) Muszbek László (1942-) (haematológus, kutató orvos) Mannucci, Pier Mannuccio
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6.

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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