332 results on '"Ploski, R"'
Search Results
2. New evidence for association of recessive IARS gene mutations with hepatopathy, hypotonia, intellectual disability and growth retardation
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Smigiel, R., Biela, M., Biernacka, A., Stembalska, A., Sasiadek, M., Kosinska, J., Rydzanicz, M., and Ploski, R.
- Published
- 2017
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3. Independent association of FTO rs9939609 polymorphism with overweight and obesity in Polish adults. Results from the representative population-based WOBASZ study
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Piwonska, Aleksandra M., Cicha-Mikołajczyk, Alicja, Sobczyk-Kopciol, A., Piwoński, J., Drygas, Wojciech, Kwasniewska, M., Pająk, Andrzej, Zdrojewski, Tomasz, Tykarski, Andrzej, Kozakiewicz, K., and Ploski, R.
- Published
- 2022
4. Genetic evaluation of patients with Alström syndrome in the Polish population
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Zmyslowska, A., Borowiec, M., Antosik, K., Ploski, R., Ciechanowska, M., Iwaniszewska, B., Jakubiuk-Tomaszuk, A., Janczyk, W., Krawczynski, M., Salmonowicz, B., Stelmach, M., and Mlynarski, W.
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- 2016
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5. Diagnostic utility of genetic testing in restrictive cardiomyopathy a single refferal centre experience
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Szczygiel, J A, primary, Michalek, P, additional, Franaszczyk, M, additional, Truszkowska, G, additional, Ziarkiewicz, M, additional, Gawor, M, additional, Legatowicz-Koprowska, M, additional, Walczak, E, additional, Mazurkiewicz, L, additional, Stawinski, P, additional, Jedrzejczak, W W, additional, Lutynska, A, additional, Ploski, R, additional, Bilinska, Z T, additional, and Grzybowski, J, additional
- Published
- 2021
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6. The emerging role of reassessment of genetic testing results in the diagnosis of the unexplained sudden cardiac arrest's causes
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Stepien-Wojno, M, primary, Poninska, J, additional, Foss-Nieradko, B, additional, Rydzanicz, M, additional, Michalak, E, additional, Bilinska, M, additional, Truszkowska, G, additional, Chmielewski, P, additional, Kowalik, I, additional, Baranowski, R, additional, Lutynska, A, additional, Biernacka, E K, additional, Stepinska, J, additional, Ploski, R, additional, and Bilinska, Z T, additional
- Published
- 2021
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7. Possible association between actinic keratosis and the rs7208422 (c.917A→T, p.N306l) polymorphism of the EVER2 gene in patients without epidermodysplasia verruciformis
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Kalinska-Bienias, A., Kostrzewa, G., Malejczyk, M., Ploski, R., and Majewski, S.
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- 2015
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8. TRPV6 functionally defective variants are associated with chronic pancreatitis in non-alcoholic early-onset polish and German patients
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Rygiel, A.M., primary, Oracz, G., additional, Zarod, M., additional, Ewers, M., additional, Laumen, H., additional, Gambin, T., additional, Grabowska, I., additional, Drozak, A., additional, Kwiatkowski, S., additional, Wertheim-Tysarowska, K., additional, Kolodziejczyk, E., additional, Kosinska, J., additional, Gluszek, S., additional, Koziel, D., additional, Ploski, R., additional, Rosendahl, J., additional, Witt, H., additional, and Drozak, J., additional
- Published
- 2021
- Full Text
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9. Non-syndromic inherited retinal diseases in Poland: Genes, mutations, and phenotypes
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Tracewska, A.M., Kocyla-Karczmarewicz, B., Rafalska, A., Murawska, J., Jakubaszko-Jablonska, J., Rydzanicz, M., Khan, M.I., Cremers, F.P.M., Ploski, R., and Chrzanowska, K.H.
- Subjects
All institutes and research themes of the Radboud University Medical Center ,Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12] - Abstract
Contains fulltext : 236914.pdf (Publisher’s version ) (Closed access)
- Published
- 2021
10. De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy
- Author
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Riedhammer, Korbinian M., Stockler, S., Ploski, R., Wenzel, M., Adis-Dutschmann, Burkhard, Ahting, U., Karnebeek, C.D. van, Krageloh-Mann, Ingeborg, Vill, Katharina, Riedhammer, Korbinian M., Stockler, S., Ploski, R., Wenzel, M., Adis-Dutschmann, Burkhard, Ahting, U., Karnebeek, C.D. van, Krageloh-Mann, Ingeborg, and Vill, Katharina
- Abstract
Contains fulltext : 233946.pdf (Publisher’s version ) (Closed access)
- Published
- 2021
11. INDEPENDENT ASSOCIATION OF FTO rs9939609 POLYMORPHISM WITH OVERWEIGHT AND OBESITY IN POLISH ADULTS. RESULTS FROM THE REPRESENTATIVE POPULATION-BASED WOBASZ STUDY.
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PIWONSKA, A. M., CICHA-MIKOLAJCZYK, A., SOBCZYK-KOPCIOL, A., PIWONSKI, J., DRYGAS, W., KWASNIEWSKA, M., PAJAK, A., ZDROJEWSKI, T., TYKARSKI, A., KOZAKIEWICZ, K., and PLOSKI, R.
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POLISH people ,OBESITY ,DEMOGRAPHIC surveys - Abstract
Genetic factors play an important role in the origin of obesity. We investigated the association between the FTO rs9939609 genotype and overweight and obesity, along with additional anthropometric variables in the representative sample of adult Polish population. We genotyped a random sample of 3369 adult individuals examined in a crosssectional population survey (WOBASZ 2003-2005). More than 40% of men and women had at least one A allele. The AA genotype was found in approximately one fifth of both men and women. The frequency of the AA genotype increased with higher BMI in both sexes and was associated with higher anthropometric obesity indicators in both men and women. The FTO rs9939609 AA genotype was significantly related to abnormal BMI [OR=1.55 (1.14-2.11)] and overweight [OR=1.55 (1.11-2.16)] or obesity [OR=1.56 (1.04-235)] in men regardless of age, tobacco smoking, physical activity, diet and diabetes, while in women it was related to abnormal BMI [OR=1.45 (1.05-2.01)] and overweight [OR=1.59 (1.11-2.29)] after adjustment in addition for menopause. The frequency of the A allele in the Polish population was the same as in other European countries. About one fifth of both men and women have the FTO rs9939609 AA variant. A significant relationship was found between the FTO genotype and anthropometric obesity indicators. The AA genotype was significantly associated with abnormal BMI and overweight in both sexes, but the relation to the obesity phenotype was observed only in men. [ABSTRACT FROM AUTHOR]
- Published
- 2022
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12. Association of NFKB1 −94ins/del ATTG promoter polymorphism with susceptibility to and phenotype of Graves' disease
- Author
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Kurylowicz, A, Hiromatsu, Y, Jurecka-Lubieniecka, B, Kula, D, Kowalska, M, Ichimura, M, Koga, H, Kaku, H, Bar-Andziak, E, Nauman, J, Jarzab, B, Ploski, R, and Bednarczuk, T
- Published
- 2007
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13. Correction to ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder
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Carapito, R. (Raphaël), Ivanova, E. (Ekaterina), Morlon, A. (Aurore), Meng, L. (Linyan), Molitor, A. (Anne), Erdmann, E. (Eva), Kieffer, B. (Bruno), Pichot, A. (Angélique), Naegely, L. (Lydie), Kolmer, A. (Aline), Paul, N. (Nicodème), Hanauer, A. (Antoine), Tran Mau-Them, F. (Frédéric), Jean-Marçais, N. (Nolwenn), Hiatt, S. (Susan), Cooper, G. (Gregory), Tvrdik, T. (Tatiana), Muir, A. (Alison), Dimartino, C. (Clémantine), Chopra, M. (Maya), Amiel, J. (Jeanne), Gordon, C. (Christopher), Dutreux, F. (Fabien), Garde, A. (Aurore), Thauvin-Robinet, C. (Christel), Wang, X. (Xia), Leduc, M. (Magalie), Phillips, M. (Meredith), Crawford, H. (Heather), Kukolich, M. (Mary), Hunt, D. (David), Harrison, V. (Victoria), Kharbanda, M. (Mira), Smigiel, R. (Robert), Gold, N. (Nina), Hung, C. (Christina), Viskochil, D. (David), Dugan, S. (Sarah), Bayrak-Toydemir, P. (Pinar), Joly-Helas, G. (Géraldine), Guerrot, A. (Anne-Marie), Schluth-Bolard, C. (Caroline), Rio, M. (Marlène), Wentzensen, Ingrid M., McWalter, K. (Kirsty), Schnur, R. (Rhonda), Lewis, A. (Andrea), Lalani, S. (Seema), Mensah-Bonsu, N. (Noël), Céraline, J. (Jocelyn), Sun, Z. (Zijie), Ploski, R. (Rafal), Bacino, C. (Carlos), Mefford, H. (Heather), Faivre, L. (Laurence), Bodamer, O. (Olaf), Chelly, J. (Jamel), Isidor, B. (Bertrand), and Bahram, S. (Seiamak)
- Subjects
Sciences du Vivant [q-bio]/Neurosciences [q-bio.NC] ,Sciences du Vivant [q-bio]/Biotechnologies - Published
- 2020
14. Identification and characterization of novel rapidly mutating Y-chromosomal short tandem repeat markers
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Ralf, A. (Arwin), Lubach, D., Kousouri, N., Winkler, C., Schulz, I., Roewer, L. (Lutz), Purps, J, Lessig, R. (Rüdiger), Krajewski, P, Ploski, R. (Rafal), Dobosz, T. (Tadeusz), Henke, J. (Jürgen), Larmuseau, M.H.D. (Maarten), Kayser, M.H. (Manfred), Ralf, A. (Arwin), Lubach, D., Kousouri, N., Winkler, C., Schulz, I., Roewer, L. (Lutz), Purps, J, Lessig, R. (Rüdiger), Krajewski, P, Ploski, R. (Rafal), Dobosz, T. (Tadeusz), Henke, J. (Jürgen), Larmuseau, M.H.D. (Maarten), and Kayser, M.H. (Manfred)
- Abstract
Short tandem repeat polymorphisms on the male‐specific part of the human Y‐chromosome (Y‐STRs) are valuable tools in many areas of human genetics. Although their paternal inheritance and moderate mutation rate (~10−3 mutations per marker per meiosis) allow detecting paternal relationships, they typically fail to separate male relatives. Previously, we identified 13 Y‐STR markers with untypically high mutation rates (>10−2 ), termed rapidly mutating (RM) Y‐STRs, and showed that they improved male relative differentiation over standard Y‐STRs. By applying a newly developed in silico search approach to the Y‐chromosome reference sequence, we identified 27 novel RM Y‐STR candidates. Genotyping them in 1,616 DNA‐confirmed father–son pairs for mutation rate estimation empirically highlighted 12 novel RM Y‐STRs. Their capacity to differentiate males related by 1, 2, and 3 meioses was 27%, 47%, and 61%, respectively, while for all 25 currently known RM Y‐STRs, it was 44%, 69%, and 83%. Of the 647 Y‐STR mutations ob
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- 2020
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15. Identification and characterization of novel rapidly mutating Y-chromosomal short tandem repeat markers
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Ralf, Arwin, Lubach, DN (Delano), Kousouri, Nefeli, Winkler, C, Schulz, I, Roewer, L, Purps, J, Lessig, R, Krajewski, P, Ploski, R, Dobosz, T, Henke, L, Henke, J, Larmuseau, MHD, Kayser, Manfred, Ralf, Arwin, Lubach, DN (Delano), Kousouri, Nefeli, Winkler, C, Schulz, I, Roewer, L, Purps, J, Lessig, R, Krajewski, P, Ploski, R, Dobosz, T, Henke, L, Henke, J, Larmuseau, MHD, and Kayser, Manfred
- Published
- 2020
16. TRPV6-defective variants are associated with chronic pancreatitis in Polish pediatric patients.
- Author
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Oracz, G., primary, Zarod, M., additional, Gambin, T., additional, Drozak, A., additional, Kwiatkowski, S., additional, Wertheim-Tysarowska, K., additional, Kolodziejczyk, E., additional, Sawicka, J., additional, Jackiewicz, M., additional, Kosinska, J., additional, Koziel, D., additional, Gluszek, S., additional, Ploski, R., additional, Bal, J., additional, Drozak, J., additional, and Rygiel, A., additional
- Published
- 2020
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17. GJB2 and hearing impairment: promoter defects do not explain the excess of monoallelic mutations
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Pollak, A, Mueller-Malesińska, M, A Skórka, Kostrzewa, G, Ołdak, M, Korniszewski, L, Skarżyński, H, and Ploski, R
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- 2008
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18. Association of Chromosome 9p21 With Subsequent Coronary Heart Disease Events A GENIUS-CHD Study of Individual Participant Data
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Patel, R.S., Schmidt, A.F., Tragante, V., McCubrey, R.O., Holmes, M.V., Howe, L.J., Direk, K., Akerblom, A., Leander, K., Virani, S.S., Kaminski, K.A., Muehlschlegel, J.D., Dube, M.P., Allayee, H., Almgren, P., Alver, M., Baranova, E.V., Behlouli, H., Boeckx, B., Braund, P.S., Breitling, L.P., Delgado, G., Duarte, N.E., Dufresne, L., Eriksson, N., Foco, L., Gijsberts, C.M., Gong, Y., Hartiala, J., Heydarpour, M., Hubacek, J.A., Kleber, M., Kofink, D., Kuukasjarvi, P., Lee, V.V., Leiherer, A., Lenzini, P.A., Levin, D., Lyytikainen, L.P., Martinelli, N., Mons, U., Nelson, C.P., Nikus, K., Pilbrow, A.P., Ploski, R., Sun, Y.V., Tanck, M.W.T., Tang, W.H.W., Trompet, S., Laan, S.W. van der, Setten, J. van, Vilmundarson, R.O., Anselmi, C.V., Vlachopoulou, E., Boerwinkle, E., Briguori, C., Carlquist, J.F., Carruthers, K.F., Casu, G., Deanfield, J., Deloukas, P., Dudbridge, F., Fitzpatrick, N., Gigante, B., James, S., Lokki, M.L., Lotufo, P.A., Marziliano, N., Mordi, I.R., Muhlestein, J.B., Cheh, C.N., Pitha, J., Saely, C.H., Samman-Tahhan, A., Sandesara, P.B., Teren, A., Timmis, A., Werf, F. van de, Wauters, E., Wilde, A.A.M., Ford, I., Stott, D.J., Algra, A., Andreassi, M.G., Ardissino, D., Arsenault, B.J., Ballantyne, C.M., Bergmeijer, T.O., Bezzina, C.R., Body, S.C., Bogaty, P., Borst, G.J. de, Brenner, H., Burkhardt, R., Carpeggiani, C., Condorelli, G., Cooper-DeHoff, R.M., Cresci, S., Faire, U. de, Doughty, R.N., Drexel, H., Engert, J.C., Fox, K.A.A., Girelli, D., Hagstrom, E., Hazen, S.L., Held, C., Hemingway, H., Hoefer, I.E., Hovingh, G.K., Johnson, J.A., Jong, P.A. de, Jukema, J.W., Kaczor, M.P., Kahonen, M., Kettner, J., Kiliszek, M., Klungel, O.H., Lagerqvist, B., Lambrechts, D., Laurikka, J.O., Lehtimaki, T., Lindholm, D., Mahmoodi, B.K., Maitland-van der Zee, A.H., McPherson, R., Melander, O., Metspalu, A., Pepinski, W., Olivieri, O., Opolski, G., Palmer, C.N., Pasterkamp, G., Pepine, C.J., Pereira, A.C., Note, L., Quyyumi, A.A., Richards, A.M., Sanak, M., Scholz, M., Siegbahn, A., Sinisalo, J., Smith, J.G., Spertus, J.A., Stewart, A.F.R., Szczeklik, W., Szpakowicz, A., Berg, J.M. ten, Thanassoulis, G., Thieiy, J., Graaf, Y. van der, Visseren, F.L.J., Waltenberger, J., Harst, P. van der, Tardif, J.C., Sattar, N., Lang, C.C., Pare, G., Brophy, J.M., Anderson, J.L., Marz, W., Wallentin, L., Cameron, V.A., Horne, B.D., Samani, N.J., Hingorani, A.D., Asselbergs, F.W., and CARDIo-GRAMPlusC4D Consortium
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myocardial infarction ,risk factor ,cardiovascular diseases ,chromosome ,genetic ,variation ,secondary prevention - Abstract
BACKGROUND: Genetic variation at chromosome 9p21 is a recognized risk factor for coronary heart disease (CHD). However, its effect on disease progression and subsequent events is unclear, raising questions about its value for stratification of residual risk.METHODS: A variant at chromosome 9p21 (rs1333049) was tested for association with subsequent events during follow-up in 103 357 Europeans with established CHD at baseline from the GENIUS-CHD (Genetics of Subsequent Coronary Heart Disease) Consortium (73.1% male, mean age 62.9 years). The primary outcome, subsequent CHD death or myocardial infarction (CHD death/myocardial infarction), occurred in 13 040 of the 93 115 participants with available outcome data. Effect estimates were compared with case/control risk obtained from the CARDIoGRAMplusC4D consortium (Coronary Artery Disease Genome-wide Replication and Meta-analysis [CARDIoGRAM] plus The Coronary Artery Disease [C4D] Genetics) including 47 222 CHD cases and 122 264 controls free of CHD.RESULTS: Meta-analyses revealed no significant association between chromosome 9p21 and the primary outcome of CHD death/myocardial infarction among those with established CHD at baseline (GENIUSCHD odds ratio, 1.02; 95% CI, 0.99-1.05). This contrasted with a strong association in CARDIoGRAMPlusC4D odds ratio 1.20; 95% CI, 1.18-1.22; P for interaction < 0.001 compared with the GENIUS-CHD estimate. Similarly, no clear associations were identified for additional subsequent outcomes, including all-cause death, although we found a modest positive association between chromosome 9p21 and subsequent revascularization (odds ratio, 1.07; 95% CI, 1.04-1.09).CONCLUSIONS: In contrast to studies comparing individuals with CHD to disease-free controls, we found no clear association between genetic variation at chromosome 9p21 and risk of subsequent acute CHD events when all individuals had CHD at baseline. However, the association with subsequent revascularization may support the postulated mechanism of chromosome 9p21 for promoting atheroma development.
- Published
- 2019
19. Association of Chromosome 9p21 With Subsequent Coronary Heart Disease Events
- Author
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Patel, RS, Schmidt, AF, Tragante, V, McCubrey, RO, Holmes, MV, Howe, LJ, Direk, K, Åkerblom, A, Leander, K, Virani, SS, Kaminski, KA, Muehlschlegel, JD, Dubé, M-P, Allayee, H, Almgren, P, Alver, M, Baranova, EV, Behlouli, H, Boeckx, B, Braund, PS, Breitling, LP, Delgado, G, Duarte, NE, Dufresne, L, Eriksson, N, Foco, L, Gijsberts, CM, Gong, Y, Hartiala, J, Heydarpour, M, Hubacek, JA, Kleber, M, Kofink, D, Kuukasjärvi, P, Lee, V-V, Leiherer, A, Lenzini, PA, Levin, D, Lyytikäinen, L-P, Martinelli, N, Mons, U, Nelson, CP, Nikus, K, Pilbrow, AP, Ploski, R, Sun, YV, Tanck, MWT, Tang, WHW, Trompet, S, Van Der Laan, SW, Van Setten, J, Vilmundarson, RO, Anselmi, C, Vlachopoulou, E, Boerwinkle, E, Briguori, C, Carlquist, JF, Carruthers, KF, Casu, G, Deanfield, J, Deloukas, P, Dudbridge, F, Fitzpatrick, N, Gigante, B, James, S, Lokki, M-L, Lotufo, PA, Marziliano, N, Mordi, IR, Muhlestein, JB, Newton-Cheh, C, Pitha, J, Saely, CH, Samman-Tahhan, A, Sandesara, PB, Teren, A, Timmis, A, Van De Werf, F, Wauters, E, Wilde, AAM, Ford, I, Stott, DJ, Algra, A, Andreassi, MG, Ardissino, D, Arsenault, BJ, Ballantyne, CM, Bergmeijer, TO, Bezzina, CR, Body, SC, Bogaty, P, De Borst, GJ, Brenner, H, Burkhardt, R, Carpeggiani, C, Condorelli, G, Cooper-Dehoff, RM, Cresci, S, De Faire, U, Doughty, RN, Drexel, H, Engert, JC, Fox, KAA, Girelli, D, Hagström, E, Hazen, SL, Held, C, Hemingway, H, Hoefer, IE, Hovingh, GK, Johnson, JA, De Jong, PA, Jukema, JW, Kaczor, MP, Kähönen, M, Kettner, J, Kiliszek, M, Klungel, OH, Lagerqvist, B, Lambrechts, D, Laurikka, JO, Lehtimäki, T, Lindholm, D, Mahmoodi, BK, Der Zee, AH, McPherson, R, Melander, O, Metspalu, A, Pepinski, W, Olivieri, O, Opolski, G, Palmer, CN, Pasterkamp, G, Pepine, CJ, Pereira, AC, Pilote, L, Quyyumi, AA, Richards, AM, Sanak, M, Scholz, M, Siegbahn, A, Sinisalo, J, Smith, JG, Spertus, JA, Stewart, AFR, Szczeklik, W, Szpakowicz, A, Berg, JM, Thanassoulis, G, Thiery, J, Van Der Graaf, Y, Visseren, FLJ, Waltenberger, J, Van Der Harst, P, Tardif, J-C, Sattar, N, Lang, CC, Paré, G, Brophy, JM, Anderson, JL, März, W, Wallentin, L, Cameron, VA, Horne, BD, Samani, NJ, Hingorani, AD, and Asselbergs, FW
- Subjects
Male ,Myocardial Infarction ,genetic risk factor ,Coronary Artery Disease ,Middle Aged ,Article ,chromosome 9p21 ,Gene Frequency ,Risk Factors ,Case-Control Studies ,Odds Ratio ,Humans ,Female ,Genetic Predisposition to Disease ,cardiovascular diseases ,Chromosomes, Human, Pair 9 ,secondary prevention - Abstract
Genetic variation at chromosome 9p21 is a recognized risk factor for coronary heart disease (CHD). However, its effect on disease progression and subsequent events is unclear, raising questions about its value for stratification of residual risk.A variant at chromosome 9p21 (rs1333049) was tested for association with subsequent events during follow-up in 103 357 Europeans with established CHD at baseline from the GENIUS-CHD (Genetics of Subsequent Coronary Heart Disease) Consortium (73.1% male, mean age 62.9 years). The primary outcome, subsequent CHD death or myocardial infarction (CHD death/myocardial infarction), occurred in 13 040 of the 93 115 participants with available outcome data. Effect estimates were compared with case/control risk obtained from the CARDIoGRAMplusC4D consortium (Coronary Artery Disease Genome-wide Replication and Meta-analysis [CARDIoGRAM] plus The Coronary Artery Disease [C4D] Genetics) including 47 222 CHD cases and 122 264 controls free of CHD.Meta-analyses revealed no significant association between chromosome 9p21 and the primary outcome of CHD death/myocardial infarction among those with established CHD at baseline (GENIUS-CHD odds ratio, 1.02; 95% CI, 0.99-1.05). This contrasted with a strong association in CARDIoGRAMPlusC4D odds ratio 1.20; 95% CI, 1.18-1.22; P for interaction0.001 compared with the GENIUS-CHD estimate. Similarly, no clear associations were identified for additional subsequent outcomes, including all-cause death, although we found a modest positive association between chromosome 9p21 and subsequent revascularization (odds ratio, 1.07; 95% CI, 1.04-1.09).In contrast to studies comparing individuals with CHD to disease-free controls, we found no clear association between genetic variation at chromosome 9p21 and risk of subsequent acute CHD events when all individuals had CHD at baseline. However, the association with subsequent revascularization may support the postulated mechanism of chromosome 9p21 for promoting atheroma development.
- Published
- 2019
20. Transferrin hypoglycosylation in hereditary fructose intolerance: Using the clues and avoiding the pitfalls
- Author
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Adamowicz, M., Ploski, R., Rokicki, D., Morava, E., Giżewska, M., Mierzewska, H., Pollak, A., Lefeber, D. J., Wevers, R. A., and Pronicka, E.
- Published
- 2007
- Full Text
- View/download PDF
21. Association of PTPN22 C1858T polymorphism with rheumatoid arthritis but not with allergic asthma: P-184
- Author
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Majorczyk, E, Jasek, M, Ploski, R, Kosior, A, Wagner, M, Pawlik, A, Obojski, A, Luszczek, W, Nowak, I, Wisniewski, A, and Kusnierczyk, P
- Published
- 2007
22. Molecular background of polyendocrinopathy–candidiasis–ectodermal dystrophy syndrome in a Polish population: novel AIRE mutations and an estimate of disease prevalence
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Stolarski, B, Pronicka, E, Korniszewski, L, Pollak, A, Kostrzewa, G, Rowińska, E, Włodarski, P, Skórka, A, Gremida, M, Krajewski, P, and Ploski, R
- Published
- 2006
23. Cleidocranial dysplasia in a Polish population: high frequency of the R193X mutation
- Author
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Kisiel, B M, Kostrzewa, G, Wlasienko, P, Kruczek, A, Gajdulewicz, M, Maciejak, D, Wisniewska, M, Ploski, R, and Korniszewski, L
- Published
- 2006
24. Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland
- Author
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Tracewska, A.M., Kocyla-Karczmarewicz, B., Rafalska, A., Murawska, J., Jakubaszko-Jablonska, J., Rydzanicz, M., Stawinski, P., Ciara, E., Khan, M.I., Henkes, A., Hoischen, A., Gilissen, C.F., Vorst, M. van de, Cremers, F.P.M., Ploski, R., Chrzanowska, K.H., Tracewska, A.M., Kocyla-Karczmarewicz, B., Rafalska, A., Murawska, J., Jakubaszko-Jablonska, J., Rydzanicz, M., Stawinski, P., Ciara, E., Khan, M.I., Henkes, A., Hoischen, A., Gilissen, C.F., Vorst, M. van de, Cremers, F.P.M., Ploski, R., and Chrzanowska, K.H.
- Abstract
Contains fulltext : 215626.pdf (publisher's version ) (Open Access), Mutations in retina-specific ATP-binding cassette transporter 4 (ABCA4) are responsible for over 95% of cases of Stargardt disease (STGD), as well as a minor proportion of retinitis pigmentosa (RP) and cone-rod dystrophy cases (CRD). Since the knowledge of the genetic causes of inherited retinal diseases (IRDs) in Poland is still scarce, the purpose of this study was to identify pathogenic ABCA4 variants in a subgroup of Polish IRD patients. We recruited 67 families with IRDs as a part of a larger study. The patients were screened with next generation sequencing using a molecular inversion probes (MIPs)-based technique targeting 108 genes involved in the pathogenesis of IRDs. All identified mutations were validated and their familial segregation was tested using Sanger sequencing. In the case of the most frequent complex allele, consisting of two variants in exon 12 and 21, familial segregation was tested using restriction fragment length polymorphism (RFLP). The most prevalent variant, a complex change c.[1622T>C;3113C>T], p.[Leu541Pro;Ala1038Val], was found in this cohort in 54% of all solved ABCA4-associated disorder cases, which is the highest frequency reported thus far. Additionally, we identified nine families displaying a pseudo-dominant mode of inheritance, indicating a high frequency of pathogenic variants within this population.
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- 2019
25. Subsequent Event Risk in Individuals With Established Coronary Heart Disease
- Author
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Patel, R.S. (Riyaz), Tragante, V. (Vinicius), Schmidt, A.F. (Amand), McCubrey, R.O. (Raymond O.), Holmes, M.V. (Michael), Howe, L.J. (Laurence J.), Direk, K. (Kenan), Åkerblom, A. (Axel), Leander, K. (Karin), Virani, S.S. (Salim), Kaminski, K.A. (Karol A.), Muehlschlegel, J.D. (Jochen), Allayee, H. (Hooman), Almgren, P. (Peter), Alver, M. (Maris), Baranova, E.V. (Ekaterina V.), Behloui, H. (Hassan), Boeckx, B. (Bram), Braund, P.S. (Peter), Breitling, L.P. (Lutz), Delgado, G., Duarte, N.E. (Nubia E.), Dubé, G.P. (Gregory), Dufresne, L. (Line), Eriksson, N. (Niclas), Foco, L. (Luisa), Scholz, M. (Markus), Gijsberts, C.M. (Crystel M.), Glinge, C. (Charlotte), Gong, Y. (Yan), Hartiala, J. (Jaana), Heydarpour, M. (Mahyar), Hubacek, J.A. (Jaroslav A.), Kleber, M.E. (Marcus), Kofink, D. (Daniel), Kotti, S. (Salma), Kuukasjärvi, P. (Pekka), Lee, V.-V. (Vei-Vei), Leiherer, A. (Andreas), Lenzini, P.A. (Petra A.), Levin, D. (Daniel), Lyytikäinen, L.-P. (Leo-Pekka), Martinelli, N. (Nicola), Mons, U. (Ute), Nelson, C.P. (Christopher P.), Nikus, K. (Kjell), Pilbrow, A.P. (Anna P.), Ploski, R. (Rafal), Sun, Y.V. (Yan V.), Tanck, M.W.T. (Michael), Tang, W. (W.), Trompet, S. (Stella), van der Laan, S.W. (Sander W.), Setten, J. (Jessica) van, Vilmundarson, R.O. (Ragnar O.), Viviani Anselmi, C. (Chiara), Vlachopoulou, E. (Efthymia), Al Ali, L. (Lawien), Boerwinkle, E.A. (Eric), Briguori, C. (Carlo), Carlquist, J.F. (John), Carruthers, K.F. (Kathryn), Casu, G. (Gavino), Deanfield, J. (John), Deloukas, P. (Panos), Dudbridge, F. (Frank), Engstrøm, T. (Thomas), Fitzpatrick, N. (Natalie), Fox, K.M. (Kim), Gigante, B. (Bruna), James, S.K. (Stefan), Lokki, M.-L. (Marja-Liisa), Lotufo, P.A. (Paulo A.), Marziliano, N. (Nicola), Mordi, I.R. (Ify R.), Muhlestein, J.B. (Joseph), Newton-Cheh, C. (Christopher), Pitha, J. (Jan), Saely, C.H. (Christoph H.), Samman-Tahhan, A. (Ayman), Sandesara, P.B. (Pratik B.), Teren, A. (Andrej), Timmis, A. (Adam), Van de Werf, F. (Frans), Wilde, A.A.M. (Arthur), Ford, I. (Ian), Stott, D.J. (David. J.), Algra, A. (Ale), Andreassi, M.G. (Maria G.), Ardissino, D. (Diego), Arsenault, B.J. (Benoit J.), Ballantyne, C. (Christie), Bergmeijer, T.O. (Thomas O.), Bezzina, C.R. (Connie R.), Body, S.C. (Simon C.), Boersma, E.H. (Eric H.), Bogaty, P. (Peter), Bots, M.L. (Michiel), Brenner, H. (Hermann), Brugts, J.J. (Jasper), Burkhardt, R. (Ralph), Carpeggiani, C. (Clara), Condorelli, G. (Gianluigi), Cooper-Dehoff, R.M. (Rhonda), Cresci, S. (Sharon), Danchin, N. (Nicolas), Faire, U. (Ulf) de, Doughty, R.N. (Robert N.), Drexel, H. (Heinz), Engert, J.C. (James C.), Fox, K.A.A. (Keith), Girelli, D. (Domenico), Grobbee, D.E. (Diederick E.), Hagström, E. (Emil), Hazen, S.L. (Stanley), Held, C. (Claes), Hemingway, H., Hoefer, I.E. (Imo), Hovingh, G.K. (G Kees), Jabbari, R. (Reza), Johnson, J.A. (Jennifer ), Jukema, J.W. (Jan Wouter), Kaczor, M.P. (Marcin P.), Kähönen, M. (Mika), Kettner, J. (Jiri), Kiliszek, M. (Marek), Klungel, O.H. (Olaf), Lagerqvist, B. (Bo), Lambrechts, D. (Diether), Laurikka, J.O. (Jari O.), Lehtimäki, T. (Terho), Lindholm, D. (Daniel), Mahmoodi, B.K. (Bakhtawar K.), Maitland-van der Zee, A-H. (Anke-Hilse), McPherson, R. (Ruth), Melander, O. (Olle), Metspalu, A. (Andres), Niemcunowicz-Janica, A. (Anna), Olivieri, O. (Oliviero), Opolski, G. (Grzegorz), Palmer, C.N.A. (Colin), Pasterkamp, G. (Gerard), Pepine, C.J. (Carl), Pereira, A. (A.), Pilote, L. (Louise), Erdmann, J. (Jeanette), Richards, A.M. (A Mark), Sanak, M. (Marek), Siegbahn, A. (Agneta), Simon, T. (Tabassome), Sinisalo, J. (Juha), Smith, J.G. (J Gustav), Schwartz, S.M. (Stephen), Stender, S. (Steen), Stewart, A.F. (Alexandre F.), Szczeklik, W. (Wojciech), Szpakowicz, A. (Anna), Tardif, J.-C. (Jean-Claude), Berg, J.M. (Jurrien) ten, Tfelt-Hansen, J. (Jacob), Thanassoulis, G. (George), Thiery, J.P. (Joachim), Torp-Pedersen, C. (Christian Tobias), Graaf, Y. (Yolanda) van der, Visseren, F.L.J. (Frank), Waltenberger, J. (Johannes), Weeke, P.E. (Peter E.), Harst, P. (Pim) van der, Lang, C.C. (Chim C.), Sattar, N. (Naveed), Cameron, V.A. (Vicky A.), Anderson, J.L. (Jeffrey), Brophy, J.M. (James M.), Pare, G. (Guillame), Horne, B.D. (Benjamin), Ye, S. (Shu), Wallentin, L. (Lars), Wauters, E. (Els), Samani, N.J. (Nilesh), Hingorani, A. (Aroon), Asselbergs, F.W. (Folkert), Patel, R.S. (Riyaz), Tragante, V. (Vinicius), Schmidt, A.F. (Amand), McCubrey, R.O. (Raymond O.), Holmes, M.V. (Michael), Howe, L.J. (Laurence J.), Direk, K. (Kenan), Åkerblom, A. (Axel), Leander, K. (Karin), Virani, S.S. (Salim), Kaminski, K.A. (Karol A.), Muehlschlegel, J.D. (Jochen), Allayee, H. (Hooman), Almgren, P. (Peter), Alver, M. (Maris), Baranova, E.V. (Ekaterina V.), Behloui, H. (Hassan), Boeckx, B. (Bram), Braund, P.S. (Peter), Breitling, L.P. (Lutz), Delgado, G., Duarte, N.E. (Nubia E.), Dubé, G.P. (Gregory), Dufresne, L. (Line), Eriksson, N. (Niclas), Foco, L. (Luisa), Scholz, M. (Markus), Gijsberts, C.M. (Crystel M.), Glinge, C. (Charlotte), Gong, Y. (Yan), Hartiala, J. (Jaana), Heydarpour, M. (Mahyar), Hubacek, J.A. (Jaroslav A.), Kleber, M.E. (Marcus), Kofink, D. (Daniel), Kotti, S. (Salma), Kuukasjärvi, P. (Pekka), Lee, V.-V. (Vei-Vei), Leiherer, A. (Andreas), Lenzini, P.A. (Petra A.), Levin, D. (Daniel), Lyytikäinen, L.-P. (Leo-Pekka), Martinelli, N. (Nicola), Mons, U. (Ute), Nelson, C.P. (Christopher P.), Nikus, K. (Kjell), Pilbrow, A.P. (Anna P.), Ploski, R. (Rafal), Sun, Y.V. (Yan V.), Tanck, M.W.T. (Michael), Tang, W. (W.), Trompet, S. (Stella), van der Laan, S.W. (Sander W.), Setten, J. (Jessica) van, Vilmundarson, R.O. (Ragnar O.), Viviani Anselmi, C. (Chiara), Vlachopoulou, E. (Efthymia), Al Ali, L. (Lawien), Boerwinkle, E.A. (Eric), Briguori, C. (Carlo), Carlquist, J.F. (John), Carruthers, K.F. (Kathryn), Casu, G. (Gavino), Deanfield, J. (John), Deloukas, P. (Panos), Dudbridge, F. (Frank), Engstrøm, T. (Thomas), Fitzpatrick, N. (Natalie), Fox, K.M. (Kim), Gigante, B. (Bruna), James, S.K. (Stefan), Lokki, M.-L. (Marja-Liisa), Lotufo, P.A. (Paulo A.), Marziliano, N. (Nicola), Mordi, I.R. (Ify R.), Muhlestein, J.B. (Joseph), Newton-Cheh, C. (Christopher), Pitha, J. (Jan), Saely, C.H. (Christoph H.), Samman-Tahhan, A. (Ayman), Sandesara, P.B. (Pratik B.), Teren, A. (Andrej), Timmis, A. (Adam), Van de Werf, F. (Frans), Wilde, A.A.M. (Arthur), Ford, I. (Ian), Stott, D.J. (David. J.), Algra, A. (Ale), Andreassi, M.G. (Maria G.), Ardissino, D. (Diego), Arsenault, B.J. (Benoit J.), Ballantyne, C. (Christie), Bergmeijer, T.O. (Thomas O.), Bezzina, C.R. (Connie R.), Body, S.C. (Simon C.), Boersma, E.H. (Eric H.), Bogaty, P. (Peter), Bots, M.L. (Michiel), Brenner, H. (Hermann), Brugts, J.J. (Jasper), Burkhardt, R. (Ralph), Carpeggiani, C. (Clara), Condorelli, G. (Gianluigi), Cooper-Dehoff, R.M. (Rhonda), Cresci, S. (Sharon), Danchin, N. (Nicolas), Faire, U. (Ulf) de, Doughty, R.N. (Robert N.), Drexel, H. (Heinz), Engert, J.C. (James C.), Fox, K.A.A. (Keith), Girelli, D. (Domenico), Grobbee, D.E. (Diederick E.), Hagström, E. (Emil), Hazen, S.L. (Stanley), Held, C. (Claes), Hemingway, H., Hoefer, I.E. (Imo), Hovingh, G.K. (G Kees), Jabbari, R. (Reza), Johnson, J.A. (Jennifer ), Jukema, J.W. (Jan Wouter), Kaczor, M.P. (Marcin P.), Kähönen, M. (Mika), Kettner, J. (Jiri), Kiliszek, M. (Marek), Klungel, O.H. (Olaf), Lagerqvist, B. (Bo), Lambrechts, D. (Diether), Laurikka, J.O. (Jari O.), Lehtimäki, T. (Terho), Lindholm, D. (Daniel), Mahmoodi, B.K. (Bakhtawar K.), Maitland-van der Zee, A-H. (Anke-Hilse), McPherson, R. (Ruth), Melander, O. (Olle), Metspalu, A. (Andres), Niemcunowicz-Janica, A. (Anna), Olivieri, O. (Oliviero), Opolski, G. (Grzegorz), Palmer, C.N.A. (Colin), Pasterkamp, G. (Gerard), Pepine, C.J. (Carl), Pereira, A. (A.), Pilote, L. (Louise), Erdmann, J. (Jeanette), Richards, A.M. (A Mark), Sanak, M. (Marek), Siegbahn, A. (Agneta), Simon, T. (Tabassome), Sinisalo, J. (Juha), Smith, J.G. (J Gustav), Schwartz, S.M. (Stephen), Stender, S. (Steen), Stewart, A.F. (Alexandre F.), Szczeklik, W. (Wojciech), Szpakowicz, A. (Anna), Tardif, J.-C. (Jean-Claude), Berg, J.M. (Jurrien) ten, Tfelt-Hansen, J. (Jacob), Thanassoulis, G. (George), Thiery, J.P. (Joachim), Torp-Pedersen, C. (Christian Tobias), Graaf, Y. (Yolanda) van der, Visseren, F.L.J. (Frank), Waltenberger, J. (Johannes), Weeke, P.E. (Peter E.), Harst, P. (Pim) van der, Lang, C.C. (Chim C.), Sattar, N. (Naveed), Cameron, V.A. (Vicky A.), Anderson, J.L. (Jeffrey), Brophy, J.M. (James M.), Pare, G. (Guillame), Horne, B.D. (Benjamin), Ye, S. (Shu), Wallentin, L. (Lars), Wauters, E. (Els), Samani, N.J. (Nilesh), Hingorani, A. (Aroon), and Asselbergs, F.W. (Folkert)
- Abstract
BACKGROUND: The Genetics of Subsequent Coronary Heart Disease (GENIUS-CHD) consortium was established to facilitate discovery and validation of genetic variants a
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- 2019
- Full Text
- View/download PDF
26. Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis (vol 6, pg 515, 2019)
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Hayhurst, H, de Coo, IFM, Piekutowska-Abramczuk, D, Alston, CL, Sharma, S, Thompson, K, Rius, R, He, L, Hopton, S, Ploski, R, Ciara, E, Lake, NJ, Compton, AG, Delatycki, MB, Verrips, A, Bonnen, PE, Jones, SA, Morris, AA, Shakespeare, D, Christodoulou, J, Wesol-Kucharska, D, Rokicki, D, Smeets, HJM, Pronicka, E, Thorburn, DR, Gorman, GS, McFarland, R, Taylor, RW, Ng, YS, Hayhurst, H, de Coo, IFM, Piekutowska-Abramczuk, D, Alston, CL, Sharma, S, Thompson, K, Rius, R, He, L, Hopton, S, Ploski, R, Ciara, E, Lake, NJ, Compton, AG, Delatycki, MB, Verrips, A, Bonnen, PE, Jones, SA, Morris, AA, Shakespeare, D, Christodoulou, J, Wesol-Kucharska, D, Rokicki, D, Smeets, HJM, Pronicka, E, Thorburn, DR, Gorman, GS, McFarland, R, Taylor, RW, and Ng, YS
- Abstract
[This corrects the article DOI: 10.1002/acn3.725.].
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- 2019
27. Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis
- Author
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Hayhurst, H, de Coo, IFM, Piekutowska-Abramczuk, D, Alston, CL, Sharma, S, Thompson, K, Rius, R, He, L, Hopton, S, Ploski, R, Ciara, E, Lake, NJ, Compton, AG, Delatycki, MB, Verrips, A, Bonnen, PE, Jones, SA, Morris, AA, Shakespeare, D, Christodoulou, J, Wesol-Kucharska, D, Rokicki, D, Smeets, HJM, Pronicka, E, Thorburn, DR, Gorman, GS, McFarland, R, Taylor, RW, Ng, YS, Hayhurst, H, de Coo, IFM, Piekutowska-Abramczuk, D, Alston, CL, Sharma, S, Thompson, K, Rius, R, He, L, Hopton, S, Ploski, R, Ciara, E, Lake, NJ, Compton, AG, Delatycki, MB, Verrips, A, Bonnen, PE, Jones, SA, Morris, AA, Shakespeare, D, Christodoulou, J, Wesol-Kucharska, D, Rokicki, D, Smeets, HJM, Pronicka, E, Thorburn, DR, Gorman, GS, McFarland, R, Taylor, RW, and Ng, YS
- Abstract
OBJECTIVES: Mitochondrial methionyl-tRNA formyltransferase (MTFMT) is required for the initiation of translation and elongation of mitochondrial protein synthesis. Pathogenic variants in MTFMT have been associated with Leigh syndrome (LS) and mitochondrial multiple respiratory chain deficiencies. We sought to elucidate the spectrum of clinical, neuroradiological and molecular genetic findings of patients with bi-allelic pathogenic variants in MTFMT. METHODS: Retrospective cohort study combining new cases and previously published cases. RESULTS: Thirty-eight patients with pathogenic variants in MTFMT were identified, including eight new cases. The median age of presentation was 14 months (range: birth to 17 years, interquartile range [IQR] 4.5 years), with developmental delay and motor symptoms being the most frequent initial manifestation. Twenty-nine percent of the patients survived into adulthood. MRI headings in MTFMT pathogenic variants included symmetrical basal ganglia changes (62%), periventricular and subcortical white matter abnormalities (55%), and brainstem lesions (48%). Isolated complex I and combined respiratory chain deficiencies were identified in 31% and 59% of the cases, respectively. Reduction of the mitochondrial complex I and complex IV subunits was identified in the fibroblasts (13/13). Sixteen pathogenic variants were identified, of which c.626C>T was the most common. Seventy-four percent of the patients were alive at their last clinical review (median 6.8 years, range: 14 months to 31 years, IQR 14.5 years). INTERPRETATION: Patients that harbour pathogenic variants in MTFMT have a milder clinical phenotype and disease progression compared to LS caused by other nuclear defects. Fibroblasts may preclude the need for muscle biopsy, to prove causality of any novel variant.
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- 2019
28. An additional susceptibility gene for juvenile idiopathic arthritis in the HLA class I region on several DR-DQ haplotypes
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Smerdel, A., Lie, B. A., Finholt, C., Ploski, R., Førre, Ø., Undlien, D. E., and Thorsby, E.
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- 2003
29. Juvenile idiopathic arthritis (JIA) is primarily associated with HLA-DR8 but not DQ4 on the DR8-DQ4 haplotype
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Smerdel, A, Ploski, R, Flatø, B, Musiej-Nowakowska, E, Thorsby, E, and Førre, Ø
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- 2002
30. Genetic association between juvenile idiopathic arthritis and polymorphism in the SH2D2A gene
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Smerdel, A., Dai, K.-Z., Flato, B., Ploski, R., Forre, O., and Spurkland, A.
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- 2001
31. Online reference database of European Y-chromosomal short tandem repeat (STR) haplotypes.
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Roewer, L., Krawczak, Michael, Willuweit, S., Nagy, M., Alves, Cintia, Amorim, Antonio, Anslinger, K., Augustin, C., Betz, Andrea, Bosch, Elena, Caglia, Alessandra, Carracedo, Angel, Corach, D., Dekairelle, A.-F., Dobosz, T., Dupuy, Berit Myhre, Furedi, S., Gehrig, C., Gusmao, Leonor, Henke, Jurgen, Henke, Lotte, Hidding, M., Hohoff, Carsten, Hoste, Bernadette, Jobling, Mark A., Kargel, H.J., de Knijff, P., Lessig, Rudiger, Liebeherr, E., Lorente, M., Martinez-Jarreta, B., Nievas, P., Nowak, M., Parson, Walther, Pascali, V.L., Penacino, G., Ploski, R., Rolf, B., Sala, A., Schmidt, U., Schmitt, C., Schneider, Peter M., Szibor, Reinhard, Teifel-Greding, J., and Kayser, M.
- Subjects
Forensic genetics -- Conferences, meetings and seminars ,Y chromosome -- Analysis ,Haplotypes -- Analysis - Published
- 2001
32. Dilated Cardiomyopathy Due to BLC2-Associated Athanogene 3 (BAG3) Mutations
- Author
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Cuenca S., Barriales-Villa R., Franaszczyk M., Coronado-Albi M.J., Rangel-Sousa D., Jiménez-Jáimez J., Ripoll-Vera T., Mogollón-Jiménez M.V., Fontalba-Romero A., Palomino-Doza J., Salas C., Hey T.M., Elliott P., Eiskjær H., Barriales R., Fernández Fernández X., Cicerchia M., Monserrat L., Ochoa J.P., Salazar-Mendiguchia J., Mogollón M.V., Ripoll T., Charron P., Richard P., Villard E., Palomino Doza J., Fontalba A., Alonso-Pulpón L., Cobo-Marcos M., Domínguez F., Garcia-Pavia P., Gómez-Bueno M., González-López E., Hernández-Hernández A., Hernández-Pérez F.J., López-Sainz Á., Restrepo-Córdoba A., Segovia-Cubero J., Toro R., de Gonzalo-Calvo D., Rosa Longobardo F., Limeres J., Rodriguez-Palomares J.F., Garcia-Pinilla J.M., López-Garrido M.A., Jiménez-Jaimez J., Garcia-Medina D., Rangel Sousa D., Peña M.L., Mogensen J., Morris-Hey T., Barton P.J., Cook S.A., Midwinter W., Roberts A.M., Ware J.S., Walsh R., Akhtar M., Elliott P.M., Rocha-Lopes L., Savvatis K., Syrris P., Michalak E., Ploski R., Sobieszczanska-Malek M., Bilinska Z., Pankuweit S., Asselbergs F., Baas A., Dooijes D., and Sammani A.
- Subjects
Cardiomyopathy, Dilated ,BAG3 protein, human ,Adolescent ,sex difference ,electrocardiography ,retrospective study ,nonsense mutation ,heart failure ,signal transducing adaptor protein ,protein localization ,heart transplantation ,Article ,sudden cardiac death ,BLC2 associated athanogene 3 gene ,Cohort Studies ,male ,cardiovascular mortality ,congestive cardiomyopathy ,middle aged ,follow up ,chaperone ,cardiovascular parameters ,controlled study ,genetics ,human ,gene mutation ,penetrance ,BAG3 protein ,pathophysiology ,Adaptor Proteins, Signal Transducing ,Electroca ,adult ,apoptosis regulatory protein ,clinical trial ,cohort analysis ,major clinical study ,human tissue ,unclassified drug ,left ventricular enddiastolic diameter ,multicenter study ,female ,priority journal ,immunohistochemistry ,young adult ,prognosis ,mutation ,Apoptosis Regulatory Proteins ,heart ventricle arrhythmia ,heart left ventricle ejection fraction - Abstract
Background: The BAG3 (BLC2-associated athanogene 3) gene codes for an antiapoptotic protein located on the sarcomere Z-disc. Mutations in BAG3 are associated with dilated cardiomyopathy (DCM), but only a small number of cases have been reported to date, and the natural history of BAG3 cardiomyopathy is poorly understood. Objectives: This study sought to describe the phenotype and prognosis of BAG3 mutations in a large multicenter DCM cohort. Methods: The study cohort comprised 129 individuals with a BAG3 mutation (62% males, 35.1 ± 15.0 years of age) followed at 18 European centers. Localization of BAG3 in cardiac tissue was analyzed in patients with truncating BAG3 mutations using immunohistochemistry. Results: At first evaluation, 57.4% of patients had DCM. After a median follow-up of 38 months (interquartile range: 7 to 95 months), 68.4% of patients had DCM and 26.1% who were initially phenotype-negative developed DCM. Disease penetrance in individuals >40 years of age was 80% at last evaluation, and there was a trend towards an earlier onset of DCM in men (age 34.6 ± 13.2 years vs. 40.7 ± 12.2 years; p = 0.053). The incidence of adverse cardiac events (death, left ventricular assist device, heart transplantation, and sustained ventricular arrhythmia) was 5.1% per year among individuals with DCM. Male sex, decreased left ventricular ejection fraction. and increased left ventricular end-diastolic diameter were associated with adverse cardiac events. Myocardial tissue from patients with a BAG3 mutation showed myofibril disarray and a relocation of BAG3 protein in the sarcomeric Z-disc. Conclusions: DCM caused by mutations in BAG3 is characterized by high penetrance in carriers >40 years of age and a high risk of progressive heart failure. Male sex, decreased left ventricular ejection fraction, and enlarged left ventricular end-diastolic diameter are associated with adverse outcomes in patients with BAG3 mutations. © 2018 American College of Cardiology Foundation
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- 2018
33. P1610The genetic background of the disease in a group of patients with severe course of hypertrophic cardiomyopathy
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Franaszczyk, M, primary, Podgorska, A, additional, Dabrowski, M, additional, Poninska, J, additional, Spiewak, M, additional, Oreziak, A, additional, Sobieszczanska-Malek, M, additional, Zielinski, T, additional, Kusmierczyk, M, additional, Grzybowski, J, additional, Ploski, R, additional, Bilinska, Z T, additional, Witkowski, A, additional, Lutynska, A, additional, and Klopotowski, M, additional
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- 2019
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34. P2826Clinical and genetic yield of familiar screening after sudden death of young patients
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Podgorska, A, primary, Foss-Nieradko, B, additional, Biernacka, E K, additional, Franaszczyk, M, additional, Stepien-Wojno, M, additional, Poninska, J, additional, Michalak, E, additional, Chmielewski, P, additional, Baranowski, R, additional, Ploski, R, additional, Lutynska, A, additional, and Bilinska, Z T, additional
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- 2019
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35. Identification Of A De Novo Large Deletion In Ldl Receptor Gene In A Patient With Hypercholesterolemia Using Multiplex Ligation-Dependent Probe Amplification (Mlpa)
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Raniszewska, A., primary, Konarzewska, M., additional, Ploski, R., additional, and Bednarska-Makaruk, M., additional
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- 2019
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36. Multidrug Resistance-Associated Protein 2 Gene ( ABCC2) Variant in Kidney Allograft Recipients
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Pazik, J., Ołdak, M., Sitarek, E., Lewandowski, Z., Maksym, R., Ślubowska, K., Płoski, R., Malejczyk, J., and Durlik, M.
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- 2009
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37. P2863Sudden cardiac arrest in patients without overt heart disease - Clinical assessment, family screening and genetic testing by next generation sequencing
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Stepien-Wojno, M, primary, Poninska, I, additional, Foss-Nieradko, B, additional, Rydzanicz, M, additional, Michalak, E, additional, Bilinska, M, additional, Truszkowska, G, additional, Baranowski, R, additional, Kowalik, I, additional, Chmielewski, P, additional, Lutynska, A, additional, Biernacka, E K, additional, Stepinska, J, additional, Ploski, R, additional, and Bilinska, Z T, additional
- Published
- 2018
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38. Differences in Blood Pressure in Infants after General Anesthesia Compared to Awake Regional Anesthesia (GAS Study - A Prospective Randomized Trial).
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Jacobs P., Rivkin M.J., Sadler-Greever M., Faulk D., Udomtecha D., Titler S., Stringham S., Manning A., Ploski R., Farrow-Gillespie A., Cooper T., Card E., Boardman W.A., Goebel T.K., McCann M.E., Withington D.E., Arnup S.J., Davidson A.J., Disma N., Frawley G., Morton N.S., Bell G., Hunt R.W., Bellinger D.C., Polaner D.M., Leo A., Absalom A.R., Von Ungern-Sternberg B.S., Izzo F., Szmuk P., Young V., Soriano S.G., De Graaff J.C., Fajgman M., Tronconi D., van der Zee D.C., Hulscher J.B.F., Spanjersberg R., Jacobs P., Rivkin M.J., Sadler-Greever M., Faulk D., Udomtecha D., Titler S., Stringham S., Manning A., Ploski R., Farrow-Gillespie A., Cooper T., Card E., Boardman W.A., Goebel T.K., McCann M.E., Withington D.E., Arnup S.J., Davidson A.J., Disma N., Frawley G., Morton N.S., Bell G., Hunt R.W., Bellinger D.C., Polaner D.M., Leo A., Absalom A.R., Von Ungern-Sternberg B.S., Izzo F., Szmuk P., Young V., Soriano S.G., De Graaff J.C., Fajgman M., Tronconi D., van der Zee D.C., Hulscher J.B.F., and Spanjersberg R.
- Abstract
BACKGROUND: The General Anesthesia compared to Spinal anesthesia (GAS) study is a prospective randomized, controlled, multisite, trial designed to assess the influence of general anesthesia (GA) on neurodevelopment at 5 years of age. A secondary aim obtained from the blood pressure data of the GAS trial is to compare rates of intraoperative hypotension after anesthesia and to identify risk factors for intraoperative hypotension. METHOD(S): A total of 722 infants <=60 weeks postmenstrual age undergoing inguinal herniorrhaphy were randomized to either bupivacaine regional anesthesia (RA) or sevoflurane GA. Exclusion criteria included risk factors for adverse neurodevelopmental outcome and infants born at <26 weeks of gestation. Moderate hypotension was defined as mean arterial pressure measurement of <35 mm Hg. Any hypotension was defined as mean arterial pressure of <45 mm Hg. Epochs were defined as 5-minute measurement periods. The primary outcome was any measured hypotension <35 mm Hg from start of anesthesia to leaving the operating room. This analysis is reported primarily as intention to treat (ITT) and secondarily as per protocol. RESULT(S): The relative risk of GA compared with RA predicting any measured hypotension of <35 mm Hg from the start of anesthesia to leaving the operating room was 2.8 (confidence interval [CI], 2.0-4.1; P <.001) by ITT analysis and 4.5 (CI, 2.7-7.4, P <.001) as per protocol analysis. In the GA group, 87% and 49%, and in the RA group, 41% and 16%, exhibited any or moderate hypotension by ITT, respectively. In multivariable modeling, group assignment (GA versus RA), weight at the time of surgery, and minimal intraoperative temperature were risk factors for hypotension. Interventions for hypotension occurred more commonly in the GA group compared with the RA group (relative risk, 2.8, 95% CI, 1.7-4.4 by ITT). CONCLUSION(S): RA reduces the incidence of hypotension and the chance of intervention to treat it compared with sevoflurane anest
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- 2017
39. Toward Male Individualization with Rapidly Mutating Y-Chromosomal Short Tandem Repeats
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Ballantyne, K.N., Ralf, A., Aboukhalid, R., Achakzai, N.M., Anjos, M.J., Ayub, Q., Balazic, J., Ballantyne, J., Ballard, D.J., Berger, B., Bobillo, C., Bouabdellah, M., Burri, H., Capal, T., Caratti, S., Cardenas, J., Cartault, F., Carvalho, E.F., Carvalho, M., Cheng, B.W., Coble, M.D., Comas, D., Corach, D., D'Amato, M.E., Davison, S., Knijff, P. de, Ungria, M.C.A. de, Decorte, R., Dobosz, T., Dupuy, B.M., Elmrghni, S., Gliwinski, M., Gomes, S.C., Grol, L., Haas, C., Hanson, E., Henke, J., Henke, L., Herrera-Rodriguez, F., Hill, C.R., Holmlund, G., Honda, K., Immel, U.D., Inokuchi, S., Jobling, M.A., Kaddura, M., Kim, J.S., Kim, S.H., Kim, W., King, T.E., Klausriegler, E., Kling, D., Kovacevic, L., Kovatsi, L., Krajewski, P., Kravchenko, S., Larmuseau, M.H.D., Lee, E.Y., Lessig, R., Livshits, L.A., Marjanovic, D., Minarik, M., Mizuno, N., Moreira, H., Morling, N., Mukherjee, M., Munier, P., Nagaraju, J., Neuhuber, F., Nie, S.J., Nilasitsataporn, P., Nishi, T., Oh, H.H., Olofsson, J., Onofri, V., Palo, J.U., Pamjav, H., Parson, W., Petlach, M., Phillips, C., Ploski, R., Prasad, S.P.R., Primorac, D., Purnomo, G.A., Purps, J., Rangel-Villalobos, H., Rebala, K., Rerkamnuaychoke, B., Gonzalez, D.R., Robino, C., Roewer, L., Rosa, A., Sajantila, A., Sala, A., Salvador, J.M., Sanz, P., Schmitt, C., Sharma, A.K., Silva, D.A., Shin, K.J., Sijen, T., Sirker, M., Sivakova, D., Skaro, V., Solano-Matamoros, C., Souto, L., Stenzl, V., Sudoyo, H., Syndercombe-Court, D., Tagliabracci, A., Taylor, D., Tillmar, A., Tsybovsky, I.S., Tyler-Smith, C., Gaag, K.J. van der, Vanek, D., Volgyi, A., Ward, D., Willemse, P., Yap, E.P.H., Yong, R.Y.Y., Pajnic, I.Z., Kayser, M., Hjelt Institute (-2014), Forensic Medicine, PaleOmics Laboratory, and Genetic Identification
- Subjects
Male ,Rural Population ,haplotypes ,Y-chromosome ,Y-STRs ,RM Y-STRs ,paternal lineage ,forensic ,Asia ,Forensic Science ,Urban Population ,Cell- och molekylärbiologi ,education ,Paternity ,Gene Frequency ,Humans ,Alleles ,Chromosomes, Human, Y ,1184 Genetics, developmental biology, physiology ,Genetic Variation ,DNA Fingerprinting ,RM Y-STRs, Y-STRs, Y-chromosome, forensic, haplotypes, paternal lineage ,Pedigree ,Europe ,Genetics, Population ,Africa ,3111 Biomedicine ,Americas ,Cell and Molecular Biology ,Microsatellite Repeats ,Rättsmedicin - Abstract
Relevant for various areas of human genetics, Y-chromosomal short tandem repeats (Y-STRs) are commonly used for testing close paternal relationships among individuals and populations, and for male lineage identification. However, even the widely used 17-loci Yfiler set cannot resolve individuals and populations completely. Here, 52 centers generated quality-controlled data of 13 rapidly mutating (RM) Y-STRs in 14,644 related and unrelated males from 111 worldwide populations. Strikingly, >99% of the 12,272 unrelated males were completely individualized. Haplotype diversity was extremely high (global: 0.9999985, regional: 0.99836-0.9999988). Haplotype sharing between populations was almost absent except for six (0.05%) of the 12,156 haplotypes. Haplotype sharing within populations was generally rare (0.8% nonunique haplotypes), significantly lower in urban (0.9%) than rural (2.1%) and highest in endogamous groups (14.3%). Analysis of molecular variance revealed 99.98% of variation within populations, 0.018% among populations within groups, and 0.002% among groups. Of the 2,372 newly and 156 previously typed male relative pairs, 29% were differentiated including 27% of the 2,378 father-son pairs. Relative to Yfiler, haplotype diversity was increased in 86% of the populations tested and overall male relative differentiation was raised by 23.5%. Our study demonstrates the value of RMY-STRs in identifying and separating unrelated and related males and provides a reference database. Published 2014 Wiley Periodicals, Inc.**
- Published
- 2014
40. Towards complete male individualization with rapidly mutating Y-chromosomal STRs
- Author
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Ballantyne, KN, Ralf, A, Aboukhalid, R, Achakzai, NM, Anjos, MJ, Ayub, Q, Balažic, J, Ballantyne, J, Ballard, DJ, Berger, B, Bobillo, C, Bouabdellah, M, Burri, H, Butler, J, Capal, T, Caratti, S, Carracedo, A, Cartault, F, Carvalho, EF, Cheng, B, Coble, MD, Comas, D, Corach, D, D'Amato, ME, Davison, S, de Carvalho, EF, de Knijff, Peter, de Ungria, M, Decorte, Ronny, Dobosz, T, Dupuy, BM, Elmrghni, S, Gliwinski, M, Gomes, SC, Grol, L, Haas, C, Hanson, E, Henke, J, Hill, CR, Holmlund, G, Honda, K, Immel, U, Inoue, S, Jobling, MA, Kaddura, M, Kim, JS, Kim, SH, Kim, W, King, TE, Klausriegler, E, Kling, D, Kovacevic, LL, Kovatsi, L, Krajewski, P, Kravchenko, S, Larmuseau, Maarten, Lee, EY, Lee, SH, Lessig, R, Livshits, LA, Marjanovic, D, Minarik, M, Mizuno, N, Moreira, H, Morling, N, Mukherjee, M, Nagaraju, J, Neuhuber, F, Nie, S, Nilasitsataporn, P, Nishi, T, Oh, HH, Olofsson, J, Onofri, V, Palo, JU, Pamjav, H, Parson, W, Payet, C, Petlach, M, Phillips, C, Ploski, R, Prasad, SPR, Primorac, D, Purnnomo, GA, Purps, J, Rangel, H, Rebala, K, Rerkamnuaychoke, B, Rey, D, Robino, C, Rodríguez, F, Roewer, L, Rosa, A, Sajantila, A, Sala, A, Salvador, J, Sanz, P, Schmitt, C, Sharma, AK, Silva, DA, Shin, KJ, Sijen, T, Sirker, M, Siváková, D, Skaro, V, Solano-Matamoros, C, Souto, L, Stenzl, V, Sudoyo, H, Syndercombe-Court, D, Tagliabracci, A, Taylor, D, Tillmar, A, Tsybovsky, IS, Tyler-Smith, C, van der Gaag, K, Vanek, D, Völgyi, A, Ward, D, Willemse, P, Winkler, C, Yap, EPH, Yong, RYY, Zupanic Pajnic, I, and Kayser, M
- Subjects
haplotypes ,paternal lineage ,RM YSTRs ,Y-STRs ,forensic ,Y-chromosome - Abstract
Relevant for various areas of human genetics, Y-chromosomal short tandem repeats (Y-STRs) are commonly used for testing close paternal relationships among individuals and populations, and for male lineage identification. However, even the widely used 17-loci Yfiler set cannot resolve individuals and populations completely. Here, 52 centers generated quality-controlled data of 13 rapidly mutating (RM) Y-STRs in 14,644 related and unrelated males from 111 worldwide populations. Strikingly, >99% of the 12,272 unrelated males were completely individualized. Haplotype diversity was extremely high (global: 0.9999985, regional: 0.99836–0.9999988). Haplotype sharing between populations was almost absent except for six (0.05%) of the 12,156 haplotypes. Haplotype sharing within populations was generally rare (0.8% nonunique haplotypes), significantly lower in urban (0.9%) than rural (2.1%) and highest in endogamous groups (14.3%). Analysis of molecular variance revealed 99.98% of variation within populations, 0.018% among populations within groups, and 0.002% among groups. Of the 2,372 newly and 156 previously typed male relative pairs, 29% were differentiated including 27% of the 2,378 father–son pairs. Relative to Yfiler, haplotype diversity was increased in 86% of the populations tested and overall male relative differentiation was raised by 23.5%. Our study demonstrates the value of RMY-STRs in identifying and separating unrelated and related males and provides a reference database. ispartof: Human Mutation vol:35 issue:8 pages:1021-1032 status: published
- Published
- 2014
41. Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations
- Author
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Poninska, J. K., primary, Bilinska, Z. T., additional, Franaszczyk, M., additional, Michalak, E., additional, Rydzanicz, M., additional, Szpakowski, E., additional, Pollak, A., additional, Milanowska, B., additional, Truszkowska, G., additional, Chmielewski, P., additional, Sioma, A., additional, Janaszek-Sitkowska, H., additional, Klisiewicz, A., additional, Michalowska, I., additional, Makowiecka-Ciesla, M., additional, Kolsut, P., additional, Stawinski, P., additional, Foss-Nieradko, B., additional, Szperl, M., additional, Grzybowski, J., additional, Hoffman, P., additional, Januszewicz, A., additional, Kusmierczyk, M., additional, and Ploski, R., additional
- Published
- 2016
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42. CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder
- Author
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Wortmann, S.B., Zietkiewicz, S., Kousi, M., Szklarczyk, R.J., Haack, T.B., Gersting, S.W., Muntau, A.C., Rakovic, A., Renkema, G.H., Rodenburg, R.J., Strom, T.M., Meitinger, T., Rubio-Gozalbo, M.E., Chrusciel, E., Distelmaier, F., Golzio, C., Jansen, J.H., Karnebeek, C.D. van, Lillquist, Y., Lucke, T., Ounap, K., Zordania, R., Yaplito-Lee, J., Bokhoven, H. van, Spelbrink, J.N., Vaz, F.M., Pras-Raves, M., Ploski, R., Pronicka, E., Klein, C., Willemsen, M.A.A.P., Brouwer, A.P.M. de, Prokisch, H., Katsanis, N., Wevers, R.A., Wortmann, S.B., Zietkiewicz, S., Kousi, M., Szklarczyk, R.J., Haack, T.B., Gersting, S.W., Muntau, A.C., Rakovic, A., Renkema, G.H., Rodenburg, R.J., Strom, T.M., Meitinger, T., Rubio-Gozalbo, M.E., Chrusciel, E., Distelmaier, F., Golzio, C., Jansen, J.H., Karnebeek, C.D. van, Lillquist, Y., Lucke, T., Ounap, K., Zordania, R., Yaplito-Lee, J., Bokhoven, H. van, Spelbrink, J.N., Vaz, F.M., Pras-Raves, M., Ploski, R., Pronicka, E., Klein, C., Willemsen, M.A.A.P., Brouwer, A.P.M. de, Prokisch, H., Katsanis, N., and Wevers, R.A.
- Abstract
Item does not contain fulltext, We studied a group of individuals with elevated urinary excretion of 3-methylglutaconic acid, neutropenia that can develop into leukemia, a neurological phenotype ranging from nonprogressive intellectual disability to a prenatal encephalopathy with progressive brain atrophy, movement disorder, cataracts, and early death. Exome sequencing of two unrelated individuals and subsequent Sanger sequencing of 16 individuals with an overlapping phenotype identified a total of 14 rare, predicted deleterious alleles in CLPB in 14 individuals from 9 unrelated families. CLPB encodes caseinolytic peptidase B homolog ClpB, a member of the AAA+ protein family. To evaluate the relevance of CLPB in the pathogenesis of this syndrome, we developed a zebrafish model and an in vitro assay to measure ATPase activity. Suppression of clpb in zebrafish embryos induced a central nervous system phenotype that was consistent with cerebellar and cerebral atrophy that could be rescued by wild-type, but not mutant, human CLPB mRNA. Consistent with these data, the loss-of-function effect of one of the identified variants (c.1222A>G [p.Arg408Gly]) was supported further by in vitro evidence with the mutant peptides abolishing ATPase function. Additionally, we show that CLPB interacts biochemically with ATP2A2, known to be involved in apoptotic processes in severe congenital neutropenia (SCN) 3 (Kostmann disease [caused by HAX1 mutations]). Taken together, mutations in CLPB define a syndrome with intellectual disability, congenital neutropenia, progressive brain atrophy, movement disorder, cataracts, and 3-methylglutaconic aciduria.
- Published
- 2015
43. The Role of Recent Admixture in Forming the Contemporary West Eurasian Genomic Landscape
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Busby, Gbj, Hellenthal, G, Montinaro, F, Tofanelli, S, Bulayeva, K, Rudan, I, Zemunik, T, Hayward, C, Toncheva, D, Karachanak Yankova, S, Nesheva, D, Anagnostou, P, Cali, F, Brisighelli, Francesca, Romano, V, Lefranc, G, Buresi, C, Ben Chibani, J, Haj Khelil, A, Denden, S, Ploski, R, Krajewski, P, Hervig, T, Moen, T, Herrera, Rj, Wilson, Jf, Myers, S, Capelli, C., Brisighelli, Francesca (ORCID:0000-0001-5469-4413), Busby, Gbj, Hellenthal, G, Montinaro, F, Tofanelli, S, Bulayeva, K, Rudan, I, Zemunik, T, Hayward, C, Toncheva, D, Karachanak Yankova, S, Nesheva, D, Anagnostou, P, Cali, F, Brisighelli, Francesca, Romano, V, Lefranc, G, Buresi, C, Ben Chibani, J, Haj Khelil, A, Denden, S, Ploski, R, Krajewski, P, Hervig, T, Moen, T, Herrera, Rj, Wilson, Jf, Myers, S, Capelli, C., and Brisighelli, Francesca (ORCID:0000-0001-5469-4413)
- Abstract
Over the past few years, studies of DNA isolated from human fossils and archaeological remains have generated considerable novel insight into the history of our species. Several landmark papers have described the genomes of ancient humans across West Eurasia, demonstrating the presence of large-scale, dynamic population movements over the last 10,000 years, such that ancestry across present-day populations is likely to be a mixture of several ancient groups [1-7]. While these efforts are bringing the details of West Eurasian prehistory into increasing focus, studies aimed at understanding the processes behind the generation of the current West Eurasian genetic landscape have been limited by the number of populations sampled or have been either too regional or global in their outlook [8-11]. Here, using recently described haplotype-based techniques [11], we present the results of a systematic survey of recent admixture history across Western Eurasia and show that admixture is a universal property across almost all groups. Admixture in all regions except North Western Europe involved the influx of genetic material from outside of West Eurasia, which we date to specific time periods. Within Northern, Western, and Central Europe, admixture tended to occur between local groups during the period 300 to 1200 CE. Comparisons of the genetic profiles of West Eurasians before and after admixture show that population movements within the last 1,500 years are likely to have maintained differentiation among groups. Our analysis provides a timeline of the gene flow events that have generated the contemporary genetic landscape of West Eurasia.
- Published
- 2015
44. Transferrin isoelectric focusing and plasma lysosomal enzyme activities in the diagnosis and follow-up of hereditary fructose intolerance
- Author
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Moraitou, M. Dimitriou, E. Mavridou, I. Michelakakis, H. Georgouli, H. Ploski, R. Pollak, A.
- Published
- 2012
45. Phenotypic variability of Pro209Leu BAG3 mutations: Cardiomyopathy, demyelinating neuropathy and a long QT syndrome
- Author
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Kostera-Pruszczyk, A., primary, Ploski, R., additional, Potulska-Chromik, A., additional, Sadurska, E., additional, Pruszczyk, P., additional, Karolczak, J., additional, Redowicz, M., additional, and Kaminska, A., additional
- Published
- 2015
- Full Text
- View/download PDF
46. Genetic evaluation of patients with Alström syndrome in the Polish population
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Zmyslowska, A., primary, Borowiec, M., additional, Antosik, K., additional, Ploski, R., additional, Ciechanowska, M., additional, Iwaniszewska, B., additional, Jakubiuk‐Tomaszuk, A., additional, Janczyk, W., additional, Krawczynski, M., additional, Salmonowicz, B., additional, Stelmach, M., additional, and Mlynarski, W., additional
- Published
- 2015
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47. Genotype and phenotype correlation of monogenic corneal dystrophies in population of central Poland
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Udziela, M., primary, Oldak, M., additional, Sciezynska, A., additional, Ploski, R., additional, and Szaflik, J.P., additional
- Published
- 2015
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48. A variant rs613872 in TCF4 gene is responsible for the higher risk for Fuchs endothelial corneal dystrophy development- the results of study in Polish patients
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Udziela, M., primary, Oldak, M., additional, Ruszkowska, E., additional, Sciezynska, A., additional, Binczyk, E., additional, Ploski, R., additional, and Szaflik, J.P., additional
- Published
- 2015
- Full Text
- View/download PDF
49. Increased resolution within Y-chromosome haplogroup R1b M268 shed light on the neolithic transition in Europe
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Busby, G, Brisighelli, F, Bradley, D, Gusmao, L, Thomas, M, Winney, B, Bodmer, W, SANCHEZ DIZ, P, RAMOS LUIS, E, Heinrich, M, Coia, V, Trombetta, F, Tofanelli, S, Ploski, R, Vecchiotti, Carla, Zemunik, T, Rudan, I, Karachanak, S, Toncheva, D, Anagnostou, Paolo, Ferri, G, Rapone, C, Hervig, T, Wilson, J. F., and Capelli, C.
- Published
- 2010
50. Toward Male Individualization with Rapidly Mutating Y-Chromosomal Short Tandem Repeats
- Author
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Ballantyne, K. (Kaye), Ralf, A. (Arwin), Aboukhalid, R. (Rachid), Achakzai, N.M. (Niaz), Anjos, T. (Tania), Ayub, Q. (Qasim), Balažic, J. (Jože), Ballantyne, J. (Jack), Ballard, D.J. (David), Berger, B. (Burkhard), Bobillo, C. (Cecilia), Bouabdellah, M. (Mehdi), Burri, H. (Helen), Capal, T. (Tomas), Caratti, S. (Stefano), Cárdenas, J. (Jorge), Cartault, F. (François), Carvalho, E.F. (Elizeu), Carvalho, M. (Margarete) de, Cheng, B. (Baowen), Coble, M.D. (Michael), Comas, D. (David), Corach, D. (Daniel), D'Amato, M. (Mauro), Davison, S. (Sean), Knijff, P. (Peter) de, Ungria, M.C.A. (Maria Corazon) de, Decorte, R. (Ronny), Dobosz, T. (Tadeusz), Dupuy, B.M. (Berit), Elmrghni, S. (Samir), Gliwiński, M. (Mateusz), Gomes, S.C. (Sara), Grol, L. (Laurens), Haas, C. (Cordula), Hanson, E. (Erin), Henke, J. (Jürgen), Henke, L. (Lotte), Herrera-Rodríguez, F. (Fabiola), Hill, C.R. (Carolyn), Holmlund, G. (Gunilla), Honda, K. (Katsuya), Immel, U.-D. (Uta-Dorothee), Inokuchi, S. (Shota), Jobling, R., Kaddura, M. (Mahmoud), Kim, J.S. (Jong), Kim, S.H. (Soon), Kim, W. (Wook), King, T.E. (Turi), Klausriegler, E. (Eva), Kling, D. (Daniel), Kovačević, L. (Lejla), Kovatsi, L. (Leda), Krajewski, P. (Paweł), Kravchenko, S. (Sergey), Larmuseau, M.H.D. (Maarten), Lee, E.Y. (Eun Young), Lessig, R. (Rüdiger), Livshits, L.A. (Ludmila), Marjanović, D. (Damir), Minarik, M. (Marek), Mizuno, N. (Natsuko), Moreira, H. (Helena), Morling, N. (Niels), Mukherjee, M. (Meeta), Munier, P. (Patrick), Nagaraju, J. (Javaregowda), Neuhuber, F. (Franz), Nie, S. (Shengjie), Nilasitsataporn, P. (Premlaphat), Nishi, T. (Takeki), Oh, H.H. (Hye), Olofsson, S. (Sylvia), Onofri, V. (Valerio), Palo, J. (Jukka), Pamjav, H. (Horolma), Parson, W. (Walther), Petlach, M. (Michal), Phillips, C. (Christopher), Ploski, R. (Rafal), Prasad, S.P.R. (Samayamantri P.), Primorac, D. (Dragan), Purnomo, G.A. (Gludhug), Purps, J. (Josephine), Rangel-Villalobos, H. (Hector), Reogonekbała, K. (Krzysztof), Rerkamnuaychoke, B. (Budsaba), Gonzalez, D.R. (Danel Rey), Robino, C. (Carlo), Roewer, L. (Lutz), Rosa, A. (Anna) de, Sajantila, A. (Antti), Sala, A. (Andrea), Salvador, J.M. (Jazelyn), Sanz, P. (Paula), Schmitt, C. (Christian), Sharma, A.K. (Anisha K.), Silva, D.A. (Dayse), Shin, K.-J. (Kyoung-Jin), Sijen, T. (Titia), Sirker, M. (Miriam), Siváková, D. (Daniela), Škaro, V. (Vedrana), Solano-Matamoros, C. (Carlos), Souto, L. (L.), Stenzl, V. (Vlastimil), Sudoyo, H. (Herawati), Syndercombe-Court, D. (Denise), Tagliabracci, A. (Adriano), Taylor, D. (Duncan), Tillmar, A. (Andreas), Tsybovsky, I.S. (Iosif), Tyler-Smith, C. (Chris), Gaag, K. (Kristiaan) van der, Vanek, D. (Daniel), Völgyi, A. (Antónia), Ward, D. (Denise), Willemse, P. (Patricia), Yap, E.P.H. (Eric), Yong, Z-Y. (Ze-Yie), Pajnič, I.Z. (Irena Zupanič), Kayser, M.H. (Manfred), Ballantyne, K. (Kaye), Ralf, A. (Arwin), Aboukhalid, R. (Rachid), Achakzai, N.M. (Niaz), Anjos, T. (Tania), Ayub, Q. (Qasim), Balažic, J. (Jože), Ballantyne, J. (Jack), Ballard, D.J. (David), Berger, B. (Burkhard), Bobillo, C. (Cecilia), Bouabdellah, M. (Mehdi), Burri, H. (Helen), Capal, T. (Tomas), Caratti, S. (Stefano), Cárdenas, J. (Jorge), Cartault, F. (François), Carvalho, E.F. (Elizeu), Carvalho, M. (Margarete) de, Cheng, B. (Baowen), Coble, M.D. (Michael), Comas, D. (David), Corach, D. (Daniel), D'Amato, M. (Mauro), Davison, S. (Sean), Knijff, P. (Peter) de, Ungria, M.C.A. (Maria Corazon) de, Decorte, R. (Ronny), Dobosz, T. (Tadeusz), Dupuy, B.M. (Berit), Elmrghni, S. (Samir), Gliwiński, M. (Mateusz), Gomes, S.C. (Sara), Grol, L. (Laurens), Haas, C. (Cordula), Hanson, E. (Erin), Henke, J. (Jürgen), Henke, L. (Lotte), Herrera-Rodríguez, F. (Fabiola), Hill, C.R. (Carolyn), Holmlund, G. (Gunilla), Honda, K. (Katsuya), Immel, U.-D. (Uta-Dorothee), Inokuchi, S. (Shota), Jobling, R., Kaddura, M. (Mahmoud), Kim, J.S. (Jong), Kim, S.H. (Soon), Kim, W. (Wook), King, T.E. (Turi), Klausriegler, E. (Eva), Kling, D. (Daniel), Kovačević, L. (Lejla), Kovatsi, L. (Leda), Krajewski, P. (Paweł), Kravchenko, S. (Sergey), Larmuseau, M.H.D. (Maarten), Lee, E.Y. (Eun Young), Lessig, R. (Rüdiger), Livshits, L.A. (Ludmila), Marjanović, D. (Damir), Minarik, M. (Marek), Mizuno, N. (Natsuko), Moreira, H. (Helena), Morling, N. (Niels), Mukherjee, M. (Meeta), Munier, P. (Patrick), Nagaraju, J. (Javaregowda), Neuhuber, F. (Franz), Nie, S. (Shengjie), Nilasitsataporn, P. (Premlaphat), Nishi, T. (Takeki), Oh, H.H. (Hye), Olofsson, S. (Sylvia), Onofri, V. (Valerio), Palo, J. (Jukka), Pamjav, H. (Horolma), Parson, W. (Walther), Petlach, M. (Michal), Phillips, C. (Christopher), Ploski, R. (Rafal), Prasad, S.P.R. (Samayamantri P.), Primorac, D. (Dragan), Purnomo, G.A. (Gludhug), Purps, J. (Josephine), Rangel-Villalobos, H. (Hector), Reogonekbała, K. (Krzysztof), Rerkamnuaychoke, B. (Budsaba), Gonzalez, D.R. (Danel Rey), Robino, C. (Carlo), Roewer, L. (Lutz), Rosa, A. (Anna) de, Sajantila, A. (Antti), Sala, A. (Andrea), Salvador, J.M. (Jazelyn), Sanz, P. (Paula), Schmitt, C. (Christian), Sharma, A.K. (Anisha K.), Silva, D.A. (Dayse), Shin, K.-J. (Kyoung-Jin), Sijen, T. (Titia), Sirker, M. (Miriam), Siváková, D. (Daniela), Škaro, V. (Vedrana), Solano-Matamoros, C. (Carlos), Souto, L. (L.), Stenzl, V. (Vlastimil), Sudoyo, H. (Herawati), Syndercombe-Court, D. (Denise), Tagliabracci, A. (Adriano), Taylor, D. (Duncan), Tillmar, A. (Andreas), Tsybovsky, I.S. (Iosif), Tyler-Smith, C. (Chris), Gaag, K. (Kristiaan) van der, Vanek, D. (Daniel), Völgyi, A. (Antónia), Ward, D. (Denise), Willemse, P. (Patricia), Yap, E.P.H. (Eric), Yong, Z-Y. (Ze-Yie), Pajnič, I.Z. (Irena Zupanič), and Kayser, M.H. (Manfred)
- Abstract
Relevant for various areas of human genetics, Y-chromosomal short tandem repeats (Y-STRs) are commonly used for testing close paternal relationships among individuals and populations, and for male lineage identification. However, even the widely used 17-loci Yfiler set cannot resolve individuals and populations completely. Here, 52 centers generated quality-controlled data of 13 rapidly mutating (RM) Y-STRs in 14,644 related and unrelated males from 111 worldwide populations. Strikingly, >99% of the 12,272 unrelated males were completely individualized. Haplotype diversity was extremely high (global: 0.9999985, regional: 0.99836-0.9999988). Haplotype sharing between populations was almost absent except for six (0.05%) of the 12,156 haplotypes. Haplotype sharing within populations was generally rare (0.8% nonunique haplotypes), significantly lower in urban (0.9%) than rural (2.1%) and highest in endogamous groups (14.3%). Analysis
- Published
- 2014
- Full Text
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