CCL

Összesen 15 találat.
#/oldal:
Részletezés:
Rendezés:

1.

001-es BibID:BIBFORM016513
Első szerző:Appenzeller, Silke
Cím:Autosomal-Dominant Striatal Degeneration Is Caused by a Mutation in the Phosphodiesterase 8B Gene / Silke Appenzeller, Anja Schirmacher, Hartmut Halfter, Sebastian Bäumer, Manuela Pendziwiat, Vincent Timmerman, Peter De Jonghe, Klára Fekete, Florian Stögbauer, Peter Lüdemann, Margret Hund, Elgar Susanne Quabius, E. Bernd Ringelstein, Gregor Kuhlenbäumer
Dátum:2010
Megjegyzések:Autosomal-dominant striatal degeneration (ADSD) is an autosomal-dominant movement disorder affecting the striatal part of the basalganglia. ADSD is characterized by bradykinesia, dysarthria, and muscle rigidity. These symptoms resemble idiopathic Parkinson disease,but tremor is not present. Using genetic linkage analysis, we have mapped the causative genetic defect to a 3.25 megabase candidateregion on chromosome 5q13.3-q14.1. A maximum LOD score of 4.1 (Q ? 0) was obtained at marker D5S1962. Here we show thatADSD is caused by a complex frameshift mutation (c.94G>Cc.95delT) in the phosphodiesterase 8B (PDE8B) gene, which resultsin a loss of enzymatic phosphodiesterase activity. We found that PDE8B is highly expressed in the brain, especially in the putamen,which is affected by ADSD. PDE8B degrades cyclic AMP, a second messenger implied in dopamine signaling. Dopamine is one ofthe main neurotransmitters involved in movement control and is deficient in Parkinson disease. We believe that the functionalanalysis of PDE8B will help to further elucidate the pathomechanism of ADSD as well as contribute to a better understanding of movementdisorders.
Tárgyszavak:Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Acute Stroke
Organized Stroke Care
Stroke Care
Thrombolysis
Door-toneedle
Megjelenés:The American Journal of Human Genetics. - 86 : 1 (2010), p. 83-87. -
További szerzők:Schirmacher, Anja Halfter, Hartmut Bäumer, Sebastian Pendziwiat, Manuela Timmerman, Vincent De Jonghe, Peter Fekete Klára (1978-) (neurológus) Stögbauer, Florian Lüdemann, Peter Hund, Margret Quabius, Elgar Susanne Ringelstein, E. Bernd Kuhlenbäumer, Gregor
Internet cím:DOI
Intézményi repozitóriumban (DEA) tárolt változat
Borító:

2.

001-es BibID:BIBFORM091893
Első szerző:Bessenyei Beáta (molekuláris biológus)
Cím:Genetic investigation of the LIS1, DCX and TUBA1A genes in patients with lissencephaly / B. Bessenyei, A. Mokanszki, O. Nagy, K. Szakszon, A. Zimmermann, M. Zombor, E. Horvath, A. Ujfalusi, I. Balogh, L. Sztriha
Dátum:2019
Tárgyszavak:Orvostudományok Klinikai orvostudományok idézhető absztrakt
folyóiratcikk
Megjelenés:European Journal of Human Genetics. - 27 (2019), p. 286. -
További szerzők:Mokánszki Attila (1983-) (molekuláris biológus Ph.D hallgató) Nagy Orsolya (1990-) (PhD hallgató) Szakszon Katalin (1977-) (csecsemő- és gyermekgyógyász, klinikai genetikus) Zimmermann Alíz Zombor Melinda Horváth E. Ujfalusi Anikó (1968-) (gyermekorvos, laboratóriumi szakorvos) Balogh István (1972-) (molekuláris biológus, genetikus) Sztriha László
Internet cím:Intézményi repozitóriumban (DEA) tárolt változat
Borító:

3.

001-es BibID:BIBFORM038595
Első szerző:Cryns, Kim
Cím:Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations / Cryns, K., Pfister, M., Pennings, R. J. E., Bom, S. J. H., Flothmann, K., Caethoven, G., Kremer, H., Schatteman, I., Köln, K. A., Tóth, T., Kupka, S., Blin, N., Nürnberg, P., Thiele, H., van de Heyning, P. H., Reardon, W., Stephens, D., Cremers, C. W. R. J., Smith, R. J. H., van Cam, G.
Dátum:2002
ISSN:0340-6717
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:Human Genetics. - 110 : 5 (2002), p. 389-394. -
További szerzők:Pfister, Markus Pennings, Ronald J.E Bom, Steven J.H. Flothmann, Kris Caethoven, Goele Kremer, Hannie Schatteman, Isabella Köln, Karen A. Tóth Tímea (1974-) (fül-orr-gégész) Kupka Zsuzsanna (fül-orr-gégész Németország) Blin, Nikolaus Nürnberg, Peter Thiele, Holger Heyning, Paul, van de Reardon, William Stephens, Dafydd Cremers, Cor W.R.J. Smith, Richard J.H. Camp, Guy, Van
Internet cím:Szerző által megadott URL
DOI
Intézményi repozitóriumban (DEA) tárolt változat
Borító:

4.

001-es BibID:BIBFORM119059
035-os BibID:(WoS)001147414902541
Első szerző:Csók Ádám (biológus)
Cím:Assessing the potential of miRNA biomarkers for the differential diagnosis of Wilms' tumor and diffuse hyperplastic perilobar nephroblastomatosis / Á. Csók, T. Micsik, Z. Magyar, T. Tornóczky, L. Kuthi, Y. Nishi, B. Soltész, K. Szirák, I. Balogh, G. Buglyó
Dátum:2024
ISSN:1018-4813
Tárgyszavak:Orvostudományok Elméleti orvostudományok idézhető absztrakt
folyóiratcikk
Megjelenés:European Journal Of Human Genetics. - 32 : S1 (2024), p. 553. -
További szerzők:Micsik Tamás Magyar Zsófia Tornóczky Tamás Kuthi Levente Nishi, Yumika Soltész Beáta (1987-) (molekuláris biológus) Szirák Krisztina (1973-) (molekuláris genetikus) Balogh István (1972-) (molekuláris biológus, genetikus) Buglyó Gergely (1980-) (genetikus)
Internet cím:Intézményi repozitóriumban (DEA) tárolt változat
Borító:

5.

001-es BibID:BIBFORM044276
Első szerző:Einarsdottir, Elisabet
Cím:Multiple independent variants in 6q21-22 associated with susceptibility to celiac disease in the Dutch, Finnish and Hungarian populations / Einarsdottir Elisabet, Bevova Marianna R., Zhernakova Alexandra, Monsuur Alienke, Koskinen Lotta L. E., van't Slot Ruben, Mulder Chris, Mearin M. Luisa, Korponay-Szabo Ilma R., Kaukinen Katri, Kurppa Kalle, Kere Juha, Mäki Markku, Wijmenga Cisca, Saavalainen Päivi
Dátum:2011
ISSN:1018-4813
Megjegyzések:Celiac disease is an inflammatory enteropathy caused by intolerance to gluten. Previous linkage studies in the Dutch, Finnish and Hungarian populations have revealed a locus on chromosome 6q21-22 conferring susceptibility to celiac disease. This locus has previously been implicated in susceptibility to other autoimmune diseases such as Crohn's disease and type 1 diabetes. We performed fine mapping on 446 independent individuals with celiac disease and 641 controls of Dutch origin, testing 872 tagging SNPs in a 22 Mb region of chromosome 6. The 12 most promising SNPs were followed up in 2071 individuals from 284 Finnish and 357 Hungarian celiac disease families to identify risk variants in this region. Multiple markers in the region were significantly associated with celiac disease in the Dutch material. Two SNPs, rs9391227 and rs4946111, were significantly associated with celiac disease in the Finnish population. The association to rs9391227 represents the strongest association signal found in the Finnish (P = 0.003, OR 0.66) as well as the combined Dutch, Finnish and Hungarian populations (P = 3.6 ? 10(-5), OR 0.76). The rs9391227 is situated downstream of the HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 (HACE1) gene and is contained within a region of strong linkage disequilibrium enclosing HACE1. Two additional, independent, susceptibility variants in the 6q21-22 region were also found in a meta-analysis of the three populations. The 6q21-22 region was confirmed as a celiac disease susceptibility locus and harbors multiple independent associations, some of which may implicate ubiquitin-pathways in celiac disease susceptibility.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:European Journal Of Human Genetics. - 19 : 6 (2011), p. 682-686. -
További szerzők:Bevova, Marianna R. Zhernakova, Alexandra Monsuur, Alienke Koskinen, Lotta L. E. van't Slot, Ruben Mulder, Chris J. Mearin, Maria Luisa Korponay-Szabó Ilma (1959-) (gyermekgyógyász) Kaukinen, Katri Kurppa, Kalle Kere, Juha Mäki, Markku Wijmenga, Cisca Saavalainen, Päivi
Internet cím:Szerző által megadott URL
DOI
Intézményi repozitóriumban (DEA) tárolt változat
Borító:

6.

001-es BibID:BIBFORM086143
035-os BibID:(Scopus)85053123465 (WOS)000446678600006
Első szerző:Forgó Bianka
Cím:Are the Variants of the Circle of Willis Determined by Genetic or Environmental Factors? : results of a Twin Study and Review of the Literature / Bianka Forgo, Adam Domonkos Tarnoki, David Laszlo Tarnoki, Daniel Tamas Kovacs, Laszlo Szalontai, Aliz Persely, Anita Hernyes, Marcell Szily, Levente Littvay, Emanuela Medda, Adam Szabo, Lajos Rudolf Kozak, Gabor Rudas, Attila Sas, Marianna Sepsi, Laszlo Kostyal, Csaba Olah
Dátum:2018
ISSN:1832-4274
Megjegyzések:Background: Anatomic variants of the circle of Willis (CW) are commonly observed in healthy subjects. Genetic and environmental factors influencing these variants remain unclear. Our aim was to assess the genetic and environmental background affecting variant CW phenotypes. Methods: A total of 122 adult healthy twins from the Hungarian Twin Registry (39 monozygotic (MZ) and 22 dizygotic (DZ) pairs, average age 49.7 +/- 13.4 years) underwent Time-of-Flight magnetic resonance angiography and transcranial Doppler sonography. We investigated the anterior and posterior CW according to morphological categories. Prevalence and concordance rates of CW variants were calculated. MZ twins discordant for CW variants were analyzed for cardiovascular risk factors and altered blood flow. Results: Complete CW (45.0%) and bilaterally absent posterior communicating artery (PCoA) (22.5%) were the most prevalent variants in the anterior and posterior CW, respectively. There was no significant difference regarding the prevalence of variants across zygosity except for bilaterally hypoplastic PCoA (p = .02). DZ concordance was higher compared to MZ twins regarding morphological categories of the CW. Cardiovascular risk factors were not significantly associated with variant CW in MZ twins discordant to CW morphology. Flow parameters did not differ significantly among MZ twins discordant to CW variants. Conclusion: CW variants may not be determined by substantial genetic effects and are not influenced by altered blood flow in healthy individuals. Further investigations are needed to identify potential environmental factors affecting these variants.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
folyóiratcikk
Circle of Willis
variant
genetic
twin
cerebrovascular variants
collateral flow
cerebrovascular development
Megjelenés:Twin Research And Human Genetics. - 21 : 5 (2018), p. 384-393. -
További szerzők:Tárnoki Ádám Domonkos Tárnoki Dávid László Kovács Dániel Tamás Szalontai László Persely Aliz Hernyes Anita Szily Marcell Littvay Levente Medda, Emanuela Szabó Ádám Kozák Lajos Rudolf Rudas Gábor Sas Attila Sepsi Marianna Kostyál László (1974-) (radiológus) Oláh Csaba (1972-) (idegsebész)
Internet cím:Szerző által megadott URL
DOI
Intézményi repozitóriumban (DEA) tárolt változat
Borító:

7.

001-es BibID:bibEBI00021206
Első szerző:Hilgert, Nele
Cím:Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene / Hilgert N., Huentelman M.J., Thorburn A.Q., Fransen E., Dieltjens N., Mueller-Malesinska M., Pollak A., Skorka A., Waligora J., Ploski R., Castorina P., Primignani P., Ambrosetti U., Murgia A., Orzan E., Pandya A., Arnos K., Norris V., Seeman P., Janousek P., Feldmann D., Marlin S., Denoyelle F., Nishimura C.J., Janecke A., Nekahm-Heis D., Martini A., Mennucci E., Tóth T., Sziklai I., Del Castillo I., Moreno F., Petersen M.B., Iliadou V., Tekin M., Incesulu A., Nowakowska E., Bal J., Van de Heyning P., Roux A. F., Blanchet C., Goizet C., Lancelot G., Fialho G., Caria H., Liu X.Z., Xiaomei O., Govaerts P., Gronskov K., Hostmark K., Frei K., Dhooge I., Vlaeminck S., Kunstmann E., Van Laer L., Smith R.J., Van Camp G.
Dátum:2009
Megjegyzések:Hereditary hearing loss (HL) is a very heterogeneous trait, with 46 gene identifications for non-syndromic HL. Mutations in GJB2 cause up to half of all cases of severe-to-profound congenital autosomal recessive non-syndromic HL, with 35delG being the most frequent mutation in Caucasians. Although a genotype-phenotype correlation has been established for most GJB2 genotypes, the HL of 35delG homozygous patients is mild to profound. We hypothesise that this phenotypic variability is at least partly caused by the influence of modifier genes. By performing a whole-genome association (WGA) study on 35delG homozygotes, we sought to identify modifier genes. The association study was performed by comparing the genotypes of mild/moderate cases and profound cases. The first analysis included a pooling-based WGA study of a first set of 255 samples by using both the Illumina 550K and Affymetrix 500K chips. This analysis resulted in a ranking of all analysed single-nucleotide polymorphisms (SNPs) according to their P-values. The top 250 most significantly associated SNPs were genotyped individually in the same sample set. All 192 SNPs that still had significant P-values were genotyped in a second independent set of 297 samples for replication. The significant P-values were replicated in nine SNPs, with combined P-values between 3 x 10(-3) and 1 x 10(-4). This study suggests that the phenotypic variability in 35delG homozygous patients cannot be explained by the effect of one major modifier gene. Significantly associated SNPs may reflect a small modifying effect on the phenotype. Increasing the power of the study will be of greatest importance to confirm these results.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
connexin 26
35delG
hereditary hearing loss
association study
modifier gene
Megjelenés:European Journal of Human Genetics. - 17 : 4 (2009), p. 517-524. -
További szerzők:Huentelman, Matthew J. Thorburn, Ashley Q. Fransen, Erik Dieltjens, Nele Mueller-Malesinska, Malgorzata Pollak, Agnieszka Skorka, Agata Waligora, Jaroslaw Ploski, Rafal Castorina, Pierangela Primignani, Paola Ambrosetti, Umberto Murgia, Alessandra Orzan, Eva Pandya, Arti Arnos, Kathleen Norris, Virginia Seeman, Pavel Janousek, Petr Feldmann, Delphine Marlin, Sandrine Denoyelle, Francoise Nishimura, Carla J. Janecke, Andreas Nekahm-Heis, Doris Martini, Alessandro Mennucci, Elena Tóth Tímea (1974-) (fül-orr-gégész) Sziklai István (1954-) (fül-orr-gégész) Del Castillo, Ignacio Moreno, Felipe Petersen, Michael B. Iliadou, Vasiliki Tekin, Mustafa Incesulu, Armagan Nowakowska, Ewa Bal, Jerzy Heyning, Paul, van de Roux, Anne-Francoise Blanchet, Catherine Goizet, Cyril Lancelot, Guenaelle Fialho, Graca Caria, Helena Liu, Xue Zhoung Xiaomei, Ouyang Govaerts, Paul Gronskov, Karen Hostmark, Karianne Frei, Klemens Dhooge, Ingeborg Vlaeminck, Stephen Kunstmann, Erdmute Laer, L., Van Smith, Richard J. Camp, Guy, Van
Internet cím:DOI
elektronikus változat
Borító:

8.

001-es BibID:BIBFORM031514
Első szerző:Hoope, Richard R.
Cím:Dent Disease with mutations in OCRL1 / Richard R. Hoopes, Antony E. Shrimpton, Stephen J. Knohl, Paul Hueber, Bernd Hoppe, Janos Matyus, Ari Simckes, Velibor Tasic, Burkhard Toenshoff, Sharon F. Suchy, Robert L. Nussbaum, Steven J. Scheinman
Dátum:2005
Megjegyzések:Dent disease is an X-linked renal proximal tubulopathy associated with mutations in the chloride channel gene CLCN5. Lowe syndrome, a multisystem disease characterized by renal tubulopathy, congenital cataracts, and mental retardation, is associated with mutations in the gene OCRL1, which encodes a phosphatidylinositol 4,5-bisphosphate (PIP(2)) 5-phosphatase. Genetic heterogeneity has been suspected in Dent disease, but no other gene for Dent disease has been reported. We studied male probands in 13 families, all of whom met strict criteria for Dent disease but lacked mutations in CLCN5. Linkage analysis in the one large family localized the gene to a candidate region at Xq25-Xq27.1. Sequencing of candidate genes revealed a mutation in the OCRL1 gene. Of the 13 families studied, OCRL1 mutations were found in 5. PIP(2) 5-phosphatase activity was markedly reduced in skin fibroblasts cultured from the probands of these five families, and protein expression, measured by western blotting, was reduced or absent. Slit-lamp examinations performed in childhood or adulthood for all five probands showed normal results. Unlike patients with typical Lowe syndrome, none of these patients had metabolic acidosis. Three of the five probands had mild mental retardation, whereas two had no developmental delay or behavioral disturbance. These findings demonstrate that mutations in OCRL1 can occur with the isolated renal phenotype of Dent disease in patients lacking the cataracts, renal tubular acidosis, and neurological abnormalities that are characteristic of Lowe syndrome. This observation confirms genetic heterogeneity in Dent disease and demonstrates more-extensive phenotypic heterogeneity in Lowe syndrome than was previously appreciated. It establishes that the diagnostic criteria for disorders resulting from mutations in the Lowe syndrome gene OCRL1 need to be revised.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
külföldön készült közlemény
Megjelenés:American Journal of Human Genetics. - 76 : 2 (2005), p. 260-267. -
További szerzők:Shrimpton, Antony E. Knohl, Stephen J. Hueber, Paul Hoppe, Bernd Mátyus János (1957-) (belgyógyász, nephrológus) Simckes, Ari Tasic, Velibor Toenshoff, Burkhard Suchy, Sharon F. Nussbaum, Robert L. Scheinman, Steven J.
Internet cím:Szerző által megadott URL
Intézményi repozitóriumban (DEA) tárolt változat
DOI
Borító:

9.

001-es BibID:BIBFORM016245
Első szerző:Kellermayer, Richard
Cím:A novel IL2RG mutation associated with maternal T lymphocyte engraftment in a patient with severe combined immunodeficiency / Richard Kellermayer, Amy P. Hsu, József Stankovics, Péter Balogh, Kinga Hadzsiev, Ágnes Vojcek, László Maródi, Pál Kajtár, György Kosztolányi, Jennifer M. Puck
Dátum:2006
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:Journal of Human Genetics. - 51 : 5 (2006), p. 495-497. -
További szerzők:Hsu, Amy P. Stankovics József Balogh Péter (Pécs) Hadzsiev Kinga Vojcek Ágnes Maródi László (1949-) (gyermekgyógyász infektológus, immunológus) Kajtár Pál Kosztolányi György Puck, Jennifer M.
Pályázati támogatás:T 49017
OTKA
Internet cím:Intézményi repozitóriumban (DEA) tárolt változat
DOI
Borító:

10.

001-es BibID:BIBFORM073381
035-os BibID:(cikkazonosító)E-P18.36 (WoS)000489312608202
Első szerző:Keserű Judit (molekuláris genetikus)
Cím:Determination of miR-196a Single Nucleotide Polymorphism (SNP) with melting-curve analysis in the population of patients with ovarian cancer / J. S. Keserű, J. Lukács, B. Soltész, K. Szirák, Z. Birkó, A. Penyige, B. Nagy, R. Póka
Dátum:2018
ISSN:1018-4813 1476-5438
Megjegyzések:Introduction: miRNA molecules are short, non-coding sequences regulating gene expression after transcription. They are important in the development, progression and treatability of tumours. Single Nucleotide Polymorphism (SNP) is the most frequent type of genetic polymorphism. That is true also for miRNAs and their polymorphisms can cause alterations in the gene expression profile. miR-196a was also linked to the genesis of different tumours.Aim: Search for correlation between miR-196a polymorphism and development of ovarian cancer.Materials and Methods: 75 patients with ovarian cancer and 75 healthy persons were investigated. 15-16 mL blood anticoagulated with EDTA was drawn. DNA was isolated with silica absorption method and the melting curve of PCR products generated with LightSnip kit (TibMolbiol, Berlin, Germany) developed for miR-196a (rs11614913) SNP was determined by LightCycler 96 equipment. Allele and genotype frequencies were specified and Student t-test was applied for statistical analysis of data.Results: The Tm of PCR products were 55.5?C for T allele and 62.6?C for C allele with melting-curve analysis. T allele occurred in 32.66% in population of patients and in 40.66% in control group. Genotypes among control persons were 18.66% for TT, 44.0% for TC, and 37.33% CC, while in case of patients these frequencies were 12.0%, 41.33%, and 46.66%, respectively (p=0.3815).Conclusion: miR-196a influences the expression of 684 genes, it requires further complex investigation, whether it is involved in the development of ovarian cancer.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idézhető absztrakt
folyóiratcikk
ovarian cancer
miR-196a
SNP
Megjelenés:European Journal of Human Genetics. - 26 : Suppl. (2018), p. 1. -
További szerzők:Lukács János (1975-) (szülész-nőgyógyász, genetikus) Soltész Beáta (1987-) (molekuláris biológus) Szirák Krisztina (1973-) (molekuláris genetikus) Hádáné Birkó Zsuzsanna (1971-) (molekuláris genetikus) Penyige András (1954-) (molekuláris genetikus) Nagy Bálint (1956-) (molekuláris genetikus) Póka Róbert (1960-) (szülész-nőgyógyász, klinikai onkológus)
Internet cím:Szerző által megadott URL
Intézményi repozitóriumban (DEA) tárolt változat
Borító:

11.

001-es BibID:BIBFORM009654
Első szerző:Koskinen, Lotta L. E.
Cím:Association study of the IL18RAP locus in three european populations with coeliac disease / Lotta L. E. Koskinen, Elisabet Einarsdottir, Emma Dukes, Graham A. R. Heap, Patrick Dubois, Ilma R. Korponay-Szabo, Katri Kaukinen, Kalle Kurppa, Fabiana Ziberna, Serena Vatta, Tarcisio Not, Alessandro Ventura, Pertti Sistonen, Róza Ádány, Zsuzsa Pocsai, György Széles, Markku Mäki, Juha Kere, Cisca Wijmenga, David A. van Heel, Päivi Saavalainen
Dátum:2009
ISSN:0964-6906 (Print)
Tárgyszavak:Orvostudományok Egészségtudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:Human Molecular Genetics. - 18 : 6 (2009), p. 1148-1155. -
További szerzők:Einarsdottir, Elisabet Dukes, Emma Heap, Graham A. R. Dubois, Patrick Korponay-Szabó Ilma (1959-) (gyermekgyógyász) Kaukinen, Katri Kurppa, Kalle Ziberna, Fabiana Vatta, Serena Not, Tarcisio Ventura, Alessandro Sistonen, Pertti Ádány Róza (1952-) (megelőző orvostan és népegészségtan szakorvos) Pocsai Zsuzsanna (1970-) (népegészségügyi szakember) Széles György (1969-) (epidemiológus) Mäki, Markku Kere, Juha Wijmenga, Cisca Heel, David A., van Saavalainen, Päivi
Internet cím:DOI
elektronikus változat
Borító:

12.

001-es BibID:BIBFORM077370
Első szerző:Lessel, Davor
Cím:Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations / Davor Lessel, Ayse Bilge Ozel, Susan E. Campbell, Abdelkrim Saadi, Martin F. Arlt, Keisha Melodi McSweeney, Vasilica Plaiasu, Katalin Szakszon, Anna Szőllős, Cristina Rusu, Armando J. Rojas, Jaime Lopez-Valdez, Holger Thiele, Peter Nürnberg, Deborah A. Nickerson, Michael J. Bamshad, Jun Z. Li, Christian Kubisch, Thomas W. Glover, Leslie B. Gordon
Dátum:2018
ISSN:0340-6717
Megjegyzések:Juvenile segmental progeroid syndromes are rare, heterogeneous disorders characterized by signs of premature aging affecting more than one tissue or organ starting in childhood. Hutchinson?Gilford progeria syndrome (HGPS), caused by a recurrent de novo synonymous LMNA mutation resulting in aberrant splicing and generation of a mutant product called progerin, is a prototypical example of such disorders. Here, we performed a joint collaborative study using massively parallel sequencing and targeted Sanger sequencing, aimed at delineating the underlying genetic cause of 14 previously undiagnosed, clinically heterogeneous, non-LMNA-associated juvenile progeroid patients. The molecular diagnosis was achieved in 11 of 14 cases (~ 79%). Furthermore, we firmly establish biallelic mutations in POLR3A as the genetic cause of a recognizable, neonatal, Wiedemann?Rautenstrauch-like progeroid syndrome. Thus, we suggest that POLR3A mutations are causal for a portion of under-diagnosed early-onset segmental progeroid syndromes. We additionally expand the clinical spectrum associated with PYCR1 mutations by showing that they can somewhat resemble HGPS in the first year of life. Moreover, our results lead to clinical reclassification in one single case. Our data emphasize the complex genetic and clinical heterogeneity underlying progeroid disorders.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Juvenile segmental progeroid syndrome
Hutchinson?Gilford progeria syndrome
Wiedemann?Rautenstrauch progeroid syndrome
POLR3A
PYCR1
Megjelenés:Human Genetics. - 137 : 11-12 (2018), p. 921-939. -
További szerzők:Ozel, Ayse Bilge Campbell, Susan E. Saadi, Abdelkrim Arlt, Martin F. McSweeney, Keisha Melodi Plaiasu, Vasilica Szakszon Katalin (1977-) (csecsemő- és gyermekgyógyász, klinikai genetikus) Szőllős Anna Rusu, Cristina Rojas, Armando J. Lopez-Valdez, Jaime Thiele, Holger Nürnberg, Peter Nickerson, Deborah A. Bamshad, Michael J. Li, Jun Z. Kubisch, Christian Glover, Thomas W. Gordon, Leslie B.
Internet cím:Szerző által megadott URL
DOI
Intézményi repozitóriumban (DEA) tárolt változat
Borító:
Rekordok letöltése1 2 
Corvina könyvtári katalógus v8.2.27 © 2023 Monguz kft. Minden jog fenntartva.