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4. Clinical characteristics and outcomes of B-ALL with ZNF384 rearrangements: a retrospective analysis by the Ponte di Legno Childhood ALL Working Group

Author

Hirabayashi, S, Butler, E, Ohki, K, Kiyokawa, N, Bergmann, A, Moricke, A, Boer, J, Cave, H, Cazzaniga, G, Yeoh, A, Sanada, M, Imamura, T, Inaba, H, Mullighan, C, Loh, M, Noren-Nystrom, U, Pastorczak, A, Shih, L, Zaliova, M, Pui, C, Haas, O, Harrison, C, Moorman, A, Manabe, A, Hirabayashi S., Butler E. R., Ohki K., Kiyokawa N., Bergmann A. K., Moricke A., Boer J. M., Cave H., Cazzaniga G., Yeoh A. E. J., Sanada M., Imamura T., Inaba H., Mullighan C., Loh M. L., Noren-Nystrom U., Pastorczak A., Shih L. -Y., Zaliova M., Pui C. -H., Haas O. A., Harrison C. J., Moorman A. V., Manabe A., Hirabayashi, S, Butler, E, Ohki, K, Kiyokawa, N, Bergmann, A, Moricke, A, Boer, J, Cave, H, Cazzaniga, G, Yeoh, A, Sanada, M, Imamura, T, Inaba, H, Mullighan, C, Loh, M, Noren-Nystrom, U, Pastorczak, A, Shih, L, Zaliova, M, Pui, C, Haas, O, Harrison, C, Moorman, A, Manabe, A, Hirabayashi S., Butler E. R., Ohki K., Kiyokawa N., Bergmann A. K., Moricke A., Boer J. M., Cave H., Cazzaniga G., Yeoh A. E. J., Sanada M., Imamura T., Inaba H., Mullighan C., Loh M. L., Noren-Nystrom U., Pastorczak A., Shih L. -Y., Zaliova M., Pui C. -H., Haas O. A., Harrison C. J., Moorman A. V., and Manabe A.

Published
2021

5. Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes

Author

Sahoo S. S., Pastor V. B., Goodings C., Voss R. K., Kozyra E. J., Szvetnik A., Noellke P., Dworzak M., Stary J., Locatelli F., Masetti R., Schmugge M., De Moerloose B., Catala A., Kallay K., Turkiewicz D., Hasle H., Buechner J., Jahnukainen K., Ussowicz M., Polychronopoulou S., Smith O. P., Fabri O., Barzilai S., de Haas V., Baumann I., Schwarz-Furlan S., Moerloose B. D., Smith O., Haas V. D., Gohring G., Niemeyer C., Nebral K., Simonitsch-Kluppp I., Paepe P. D., Van Roy N., Campr V., Zemanova Z., Clasen-Linde E., Plesner T., Schlegelberger B., Rudelius M., Manola K., Stefanaki K., Csomor J., Andrikovics H., Betts D., O'Sullivan M., Zohar Y., Jeison M., Vito R. D., Pasquali F., Maldyk J., Haus O., Alaiz H., Kjollerstrom P., Lemos L. M., Bodova I., Cermak M., Plank L., Gazic B., Kavcic M., Podgornik H., Ros M. L., Cervera J., Gengler C., Tchinda J., Beverloo B., Leguit R., Niewisch M. R., Sauer M. G., Burkhardt B., Lang P., Bader P., Beier R., Muller I., Albert M. H., Meisel R., Schulz A., Cario G., Panda P. K., Wehrle J., Hirabayashi S., Derecka M., Durruthy-Durruthy R., Yoshimi-Noellke A., Ku M., Lebrecht D., Erlacher M., Flotho C., Strahm B., Niemeyer C. M., Wlodarski M. W., Sahoo S.S., Pastor V.B., Goodings C., Voss R.K., Kozyra E.J., Szvetnik A., Noellke P., Dworzak M., Stary J., Locatelli F., Masetti R., Schmugge M., De Moerloose B., Catala A., Kallay K., Turkiewicz D., Hasle H., Buechner J., Jahnukainen K., Ussowicz M., Polychronopoulou S., Smith O.P., Fabri O., Barzilai S., de Haas V., Baumann I., Schwarz-Furlan S., Moerloose B.D., Smith O., Haas V.D., Gohring G., Niemeyer C., Nebral K., Simonitsch-Kluppp I., Paepe P.D., Van Roy N., Campr V., Zemanova Z., Clasen-Linde E., Plesner T., Schlegelberger B., Rudelius M., Manola K., Stefanaki K., Csomor J., Andrikovics H., Betts D., O'Sullivan M., Zohar Y., Jeison M., Vito R.D., Pasquali F., Maldyk J., Haus O., Alaiz H., Kjollerstrom P., Lemos L.M., Bodova I., Cermak M., Plank L., Gazic B., Kavcic M., Podgornik H., Ros M.L., Cervera J., Gengler C., Tchinda J., Beverloo B., Leguit R., Niewisch M.R., Sauer M.G., Burkhardt B., Lang P., Bader P., Beier R., Muller I., Albert M.H., Meisel R., Schulz A., Cario G., Panda P.K., Wehrle J., Hirabayashi S., Derecka M., Durruthy-Durruthy R., Yoshimi-Noellke A., Ku M., Lebrecht D., Erlacher M., Flotho C., Strahm B., Niemeyer C.M., Wlodarski M.W., and Clinical Genetics

Subjects
Oncology, Male, medicine.medical_specialty, Monosomy, Adolescent, Somatic cell, Medizin, Bone Marrow Cells, Kaplan-Meier Estimate, General Biochemistry, Genetics and Molecular Biology, Germline, Article, Clonal Evolution, Germline mutation, SDG 3 - Good Health and Well-being, Internal medicine, medicine, Humans, Child, Germ-Line Mutation, Chromosome 7 (human), Cytopenia, clonal hemopoiesis, business.industry, Myelodysplastic syndromes, Tumor Suppressor Proteins, Intracellular Signaling Peptides and Proteins, High-Throughput Nucleotide Sequencing, Infant, General Medicine, medicine.disease, GATA2 Transcription Factor, SAMD9 and SAMD9L mutations, Pediatric Myelodysplastic syndromes, medicine.anatomical_structure, HEK293 Cells, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Child, Preschool, Myelodysplastic Syndromes, Female, Bone marrow, Clonal Hematopoiesis, Single-Cell Analysis, business
Abstract

Germline SAMD9 and SAMD9L mutations (SAMD9/9Lmut) predispose to myelodysplastic syndromes (MDS) with propensity for somatic rescue. In this study, we investigated a clinically annotated pediatric MDS cohort (n = 669) to define the prevalence, genetic landscape, phenotype, therapy outcome and clonal architecture of SAMD9/9L syndromes. In consecutively diagnosed MDS, germline SAMD9/9Lmut accounted for 8% and were mutually exclusive with GATA2 mutations present in 7% of the cohort. Among SAMD9/9Lmut cases, refractory cytopenia was the most prevalent MDS subtype (90%); acquired monosomy 7 was present in 38%; constitutional abnormalities were noted in 57%; and immune dysfunction was present in 28%. The clinical outcome was independent of germline mutations. In total, 67 patients had 58 distinct germline SAMD9/9Lmut clustering to protein middle regions. Despite inconclusive in silico prediction, 94% of SAMD9/9Lmut suppressed HEK293 cell growth, and mutations expressed in CD34+ cells induced overt cell death. Furthermore, we found that 61% of SAMD9/9Lmut patients underwent somatic genetic rescue (SGR) resulting in clonal hematopoiesis, of which 95% was maladaptive (monosomy 7 ± cancer mutations), and 51% had adaptive nature (revertant UPD7q, somatic SAMD9/9Lmut). Finally, bone marrow single-cell DNA sequencing revealed multiple competing SGR events in individual patients. Our findings demonstrate that SGR is common in SAMD9/9Lmut MDS and exemplify the exceptional plasticity of hematopoiesis in children. This analysis of a large, clinically annotated cohort of individuals with predisposition to myelodysplastic syndromes reveals insights into the genetic determinants of disease progression and their relationship with clinical manifestations and therapy outcome.

Published
2021

7. Publisher Correction: Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes (Nature Medicine, (2021), 27, 10, (1806-1817), 10.1038/s41591-021-01511-6)

Author

Sahoo, S. S., Pastor, V. B., Goodings, C., Voss, R. K., Kozyra, E. J., Szvetnik, A., Noellke, P., Dworzak, M., Stary, J., Locatelli, Franco, Masetti, R., Schmugge, M., De Moerloose, B., Catala, A., Kallay, K., Turkiewicz, D., Hasle, H., Buechner, J., Jahnukainen, K., Ussowicz, M., Polychronopoulou, S., Smith, O. P., Fabri, O., Barzilai, S., de Haas, V., Baumann, I., Schwarz-Furlan, S., Smith, O., Haas, V. D., Gohring, G., Niemeyer, C., Nebral, K., Simonitsch-Kluppp, I., Paepe, P. D., Van Roy, N., Campr, V., Zemanova, Z., Clasen-Linde, E., Plesner, T., Schlegelberger, B., Rudelius, M., Manola, K., Stefanaki, K., Csomor, J., Andrikovics, H., Betts, D., O'Sullivan, M., Zohar, Y., Jeison, M., Vito, R. D., Pasquali, F., Maldyk, J., Haus, O., Alaiz, H., Kjollerstrom, P., Lemos, L. M., Bodova, I., Cermak, M., Plank, L., Gazic, B., Kavcic, M., Podgornik, H., Ros, M. L., Cervera, J., Gengler, C., Tchinda, J., Beverloo, B., Leguit, R., Niewisch, M. R., Sauer, M. G., Burkhardt, B., Lang, P., Bader, P., Beier, R., Muller, I., Albert, M. H., Meisel, R., Schulz, A., Cario, G., Panda, P. K., Wehrle, J., Hirabayashi, S., Derecka, M., Durruthy-Durruthy, R., Yoshimi-Noellke, A., Ku, M., Lebrecht, D., Erlacher, M., Flotho, C., Strahm, B., Niemeyer, C. M., and Wlodarski, M. W.

Subjects
Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, SAMD9/SAMD9L syndromes
Published
2021

8. Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes

Author

Sahoo, S. S., Pastor, V. B., Goodings, C., Voss, R. K., Kozyra, E. J., Szvetnik, A., Noellke, P., Dworzak, M., Stary, J., Locatelli, Franco, Masetti, R., Schmugge, M., De Moerloose, B., Catala, A., Kallay, K., Turkiewicz, D., Hasle, H., Buechner, J., Jahnukainen, K., Ussowicz, M., Polychronopoulou, S., Smith, O. P., Fabri, O., Barzilai, S., de Haas, V., Baumann, I., Schwarz-Furlan, S., Smith, O., Haas, V. D., Gohring, G., Niemeyer, C., Nebral, K., Simonitsch-Kluppp, I., Paepe, P. D., Van Roy, N., Campr, V., Zemanova, Z., Clasen-Linde, E., Plesner, T., Schlegelberger, B., Rudelius, M., Manola, K., Stefanaki, K., Csomor, J., Andrikovics, H., Betts, D., O'Sullivan, M., Zohar, Y., Jeison, M., Vito, R. D., Pasquali, F., Maldyk, J., Haus, O., Alaiz, H., Kjollerstrom, P., Lemos, L. M., Bodova, I., Cermak, M., Plank, L., Gazic, B., Kavcic, M., Podgornik, H., Ros, M. L., Cervera, J., Gengler, C., Tchinda, J., Beverloo, B., Leguit, R., Niewisch, M. R., Sauer, M. G., Burkhardt, B., Lang, P., Bader, P., Beier, R., Muller, I., Albert, M. H., Meisel, R., Schulz, A., Cario, G., Panda, P. K., Wehrle, J., Hirabayashi, S., Derecka, M., Durruthy-Durruthy, R., Yoshimi-Noellke, A., Ku, M., Lebrecht, D., Erlacher, M., Flotho, C., Strahm, B., Niemeyer, C. M., Wlodarski, M. W., Locatelli F. (ORCID:0000-0002-7976-3654), Sahoo, S. S., Pastor, V. B., Goodings, C., Voss, R. K., Kozyra, E. J., Szvetnik, A., Noellke, P., Dworzak, M., Stary, J., Locatelli, Franco, Masetti, R., Schmugge, M., De Moerloose, B., Catala, A., Kallay, K., Turkiewicz, D., Hasle, H., Buechner, J., Jahnukainen, K., Ussowicz, M., Polychronopoulou, S., Smith, O. P., Fabri, O., Barzilai, S., de Haas, V., Baumann, I., Schwarz-Furlan, S., Smith, O., Haas, V. D., Gohring, G., Niemeyer, C., Nebral, K., Simonitsch-Kluppp, I., Paepe, P. D., Van Roy, N., Campr, V., Zemanova, Z., Clasen-Linde, E., Plesner, T., Schlegelberger, B., Rudelius, M., Manola, K., Stefanaki, K., Csomor, J., Andrikovics, H., Betts, D., O'Sullivan, M., Zohar, Y., Jeison, M., Vito, R. D., Pasquali, F., Maldyk, J., Haus, O., Alaiz, H., Kjollerstrom, P., Lemos, L. M., Bodova, I., Cermak, M., Plank, L., Gazic, B., Kavcic, M., Podgornik, H., Ros, M. L., Cervera, J., Gengler, C., Tchinda, J., Beverloo, B., Leguit, R., Niewisch, M. R., Sauer, M. G., Burkhardt, B., Lang, P., Bader, P., Beier, R., Muller, I., Albert, M. H., Meisel, R., Schulz, A., Cario, G., Panda, P. K., Wehrle, J., Hirabayashi, S., Derecka, M., Durruthy-Durruthy, R., Yoshimi-Noellke, A., Ku, M., Lebrecht, D., Erlacher, M., Flotho, C., Strahm, B., Niemeyer, C. M., Wlodarski, M. W., and Locatelli F. (ORCID:0000-0002-7976-3654)

Abstract

Germline SAMD9 and SAMD9L mutations (SAMD9/9Lmut) predispose to myelodysplastic syndromes (MDS) with propensity for somatic rescue. In this study, we investigated a clinically annotated pediatric MDS cohort (n = 669) to define the prevalence, genetic landscape, phenotype, therapy outcome and clonal architecture of SAMD9/9L syndromes. In consecutively diagnosed MDS, germline SAMD9/9Lmut accounted for 8% and were mutually exclusive with GATA2 mutations present in 7% of the cohort. Among SAMD9/9Lmut cases, refractory cytopenia was the most prevalent MDS subtype (90%); acquired monosomy 7 was present in 38%; constitutional abnormalities were noted in 57%; and immune dysfunction was present in 28%. The clinical outcome was independent of germline mutations. In total, 67 patients had 58 distinct germline SAMD9/9Lmut clustering to protein middle regions. Despite inconclusive in silico prediction, 94% of SAMD9/9Lmut suppressed HEK293 cell growth, and mutations expressed in CD34+ cells induced overt cell death. Furthermore, we found that 61% of SAMD9/9Lmut patients underwent somatic genetic rescue (SGR) resulting in clonal hematopoiesis, of which 95% was maladaptive (monosomy 7 ± cancer mutations), and 51% had adaptive nature (revertant UPD7q, somatic SAMD9/9Lmut). Finally, bone marrow single-cell DNA sequencing revealed multiple competing SGR events in individual patients. Our findings demonstrate that SGR is common in SAMD9/9Lmut MDS and exemplify the exceptional plasticity of hematopoiesis in children.

Published
2021

10. Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency

Author

Kozyra, E., Pastor, V., Lefkopoulos, S., Sahoo, S., Busch, H., Voss, R., Erlacher, M., Lebrecht, D., Szvetnik, E., Hirabayashi, S., Pasaulienė, R., Pedace, L., Tartaglia, M., Klemann, C., Metzger, P., Boerries, M., Catala, A., Hasle, H., de Haas, V., Kállay, K., Masetti, R., Moerloose, B., Dworzak, M., Schmugge, M., Smith, O., Starý, J., Mejstrikova, E., Ussowicz, M., Morris, E., Singh, P., Collin, M., Dereka, M., Göhring, G., Flotho, C., Strahm, B., Locatelli, F., Niemeyer, C., Trompouki, E., Wlodarski, M., and EWOG-MDS, W.

Abstract

Deficiency of the transcription factor GATA2 is a highly penetrant genetic disorder predisposing to myelodysplastic syndromes (MDS) and immunodeficiency. It has been recognized as the most common cause underlying primary MDS in children. Triggered by the discovery of a recurrent synonymous GATA2 variant, we systematically investigated 911 patients with phenotype of pediatric MDS or cellular deficiencies for the presence of synonymous alterations in GATA2. In total, we identified nine individuals with five heterozygous synonymous mutations: c.351C>G, p.T117T (N = 4); c.649C>T, p.L217L; c.981G>A, p.G327G; c.1023C>T, p.A341A; and c.1416G>A, p.P472P (N = 2). They accounted for 8.2% (9/110) of cases with GATA2 deficiency in our cohort and resulted in selective loss of mutant RNA. While for the hotspot mutation (c.351C>G) a splicing error leading to RNA and protein reduction was identified, severe, likely late stage RNA loss without splicing disruption was found for other mutations. Finally, the synonymous mutations did not alter protein function or stability. In summary, synonymous GATA2 substitutions are a new common cause of GATA2 deficiency. These findings have broad implications for genetic counseling and pathogenic variant discovery in Mendelian disorders.

Published
2020

12. Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency

Author

Kozyra, E. J., Pastor, V. B., Lefkopoulos, S., Sahoo, S. S., Busch, H., Voss, R. K., Erlacher, M., Lebrecht, D., Szvetnik, E. A., Hirabayashi, S., Pasauliene, R., Pedace, L., Tartaglia, M., Klemann, C., Metzger, P., Boerries, M., Catala, A., Hasle, H., de Haas, V., Kallay, K., Masetti, R., De Moerloose, B., Dworzak, M., Schmugge, M., Smith, O., Stary, J., Mejstrikova, E., Ussowicz, M., Morris, E., Singh, P., Collin, M., Derecka, M., Gohring, G., Flotho, C., Strahm, B., Locatelli, Franco, Niemeyer, C. M., Trompouki, E., Wlodarski, M. W., Locatelli F. (ORCID:0000-0002-7976-3654), Kozyra, E. J., Pastor, V. B., Lefkopoulos, S., Sahoo, S. S., Busch, H., Voss, R. K., Erlacher, M., Lebrecht, D., Szvetnik, E. A., Hirabayashi, S., Pasauliene, R., Pedace, L., Tartaglia, M., Klemann, C., Metzger, P., Boerries, M., Catala, A., Hasle, H., de Haas, V., Kallay, K., Masetti, R., De Moerloose, B., Dworzak, M., Schmugge, M., Smith, O., Stary, J., Mejstrikova, E., Ussowicz, M., Morris, E., Singh, P., Collin, M., Derecka, M., Gohring, G., Flotho, C., Strahm, B., Locatelli, Franco, Niemeyer, C. M., Trompouki, E., Wlodarski, M. W., and Locatelli F. (ORCID:0000-0002-7976-3654)

Abstract

Deficiency of the transcription factor GATA2 is a highly penetrant genetic disorder predisposing to myelodysplastic syndromes (MDS) and immunodeficiency. It has been recognized as the most common cause underlying primary MDS in children. Triggered by the discovery of a recurrent synonymous GATA2 variant, we systematically investigated 911 patients with phenotype of pediatric MDS or cellular deficiencies for the presence of synonymous alterations in GATA2. In total, we identified nine individuals with five heterozygous synonymous mutations: c.351C>G, p.T117T (N = 4); c.649C>T, p.L217L; c.981G>A, p.G327G; c.1023C>T, p.A341A; and c.1416G>A, p.P472P (N = 2). They accounted for 8.2% (9/110) of cases with GATA2 deficiency in our cohort and resulted in selective loss of mutant RNA. While for the hotspot mutation (c.351C>G) a splicing error leading to RNA and protein reduction was identified, severe, likely late stage RNA loss without splicing disruption was found for other mutations. Finally, the synonymous mutations did not alter protein function or stability. In summary, synonymous GATA2 substitutions are a new common cause of GATA2 deficiency. These findings have broad implications for genetic counseling and pathogenic variant discovery in Mendelian disorders.

Published
2020

19. Integrated Analysis of Epigenetic and Genetic Changes During MDS Progression Reveals the Tight Association of Epigenetic Changes with Genetic Selection

Author

Pohl, S., primary, Heudobler, D., additional, Loyola, V. Bengt Pastor, additional, Gebhard, C., additional, Mossner, M., additional, Jann, J.C., additional, Hirabayashi, S., additional, Nowak, D., additional, Wlodarski, M., additional, Hofmann, W.K., additional, Niemeyer, C., additional, and Rehli, M., additional

Published
2017
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22. Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents

Author

Wlodarski, M. W., Hirabayashi, S., Pastor, V., Stary, J., Hasle, H., Masetti, R., Dworzak, M., Schmugge, M., Van Den Heuvel-Eibrink, M., Ussowicz, M., De Moerloose, B., Catala, A., Smith, O. P., Sedlacek, P., Lankester, A. C., Zecca, M., Bordon, V., Matthes-Martin, S., Abrahamsson, J., Kuhl, J. S., Sykora, K. -W., Albert, M. H., Przychodzien, B., Maciejewski, J. P., Schwarz, S., Gohring, G., Schlegelberger, B., Cseh, A., Noellke, P., Yoshimi, A., Locatelli, Franco, Baumann, I., Strahm, B., Niemeyer, C. M., Locatelli F. (ORCID:0000-0002-7976-3654), Wlodarski, M. W., Hirabayashi, S., Pastor, V., Stary, J., Hasle, H., Masetti, R., Dworzak, M., Schmugge, M., Van Den Heuvel-Eibrink, M., Ussowicz, M., De Moerloose, B., Catala, A., Smith, O. P., Sedlacek, P., Lankester, A. C., Zecca, M., Bordon, V., Matthes-Martin, S., Abrahamsson, J., Kuhl, J. S., Sykora, K. -W., Albert, M. H., Przychodzien, B., Maciejewski, J. P., Schwarz, S., Gohring, G., Schlegelberger, B., Cseh, A., Noellke, P., Yoshimi, A., Locatelli, Franco, Baumann, I., Strahm, B., Niemeyer, C. M., and Locatelli F. (ORCID:0000-0002-7976-3654)

Abstract

GermlineGATA2 mutations cause cellular deficiencieswith high propensity for myeloid disease. We investigated 426 children and adolescents with primary myelodysplastic syndrome (MDS) and 82 cases with secondary MDS enrolled in 2 consecutive prospective studies of the European Working Group of MDS in Childhood (EWOGMDS) conducted in Germany over a period of 15 years. Germline GATA2 mutations accounted for 15% of advanced and 7% of all primary MDS cases, but were absent in children with MDS secondary to therapy or acquired aplastic anemia. Mutation carriers were older at diagnosis and more likely to present with monosomy 7 and advanced disease compared with wild-type cases. For stratified analysis according to karyotype, 108 additional primary MDS patients registered with EWOG-MDS were studied. Overall, we identified 57 MDS patients with germline GATA2mutations. GATA2 mutations were highly prevalent among patients with monosomy 7 (37%, all ages) reaching its peak in adolescence (72%of adolescents withmonosomy 7).Unexpectedly, monocytosis was more frequent in GATA2-mutated patients. However, when adjusted for the selection bias from monosomy 7, mutational status had no effect on the hematologic phenotype. Finally, overall survival and outcome of hematopoietic stem cell transplantation (HSCT) were not influenced by mutational status. This study identifies GATA2 mutations as the most common germline defect predisposing to pediatric MDS with a very high prevalence in adolescents with monosomy 7. GATA2 mutations do not confer poor prognosis in childhood MDS. However, the high risk for progression to advanced diseasemust guide decision-making toward timely HSCT.

Published
2016

23. Mutational landscape in children with myelodysplastic syndromes is distinct from adults: specific somatic drivers and novel germline variants

Author

Pastor, V, primary, Hirabayashi, S, additional, Karow, A, additional, Wehrle, J, additional, Kozyra, E J, additional, Nienhold, R, additional, Ruzaike, G, additional, Lebrecht, D, additional, Yoshimi, A, additional, Niewisch, M, additional, Ripperger, T, additional, Göhring, G, additional, Baumann, I, additional, Schwarz, S, additional, Strahm, B, additional, Flotho, C, additional, Skoda, R C, additional, Niemeyer, C M, additional, and Wlodarski, M W, additional

Published
2016
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24. A nationwide survey of pediatric acquired demyelinating syndromes in Japan

Author

Yamaguchi, Y., primary, Torisu, H., additional, Kira, R., additional, Ishizaki, Y., additional, Sakai, Y., additional, Sanefuji, M., additional, Ichiyama, T., additional, Oka, A., additional, Kishi, T., additional, Kimura, S., additional, Kubota, M., additional, Takanashi, J., additional, Takahashi, Y., additional, Tamai, H., additional, Natsume, J., additional, Hamano, S., additional, Hirabayashi, S., additional, Maegaki, Y., additional, Mizuguchi, M., additional, Minagawa, K., additional, Yoshikawa, H., additional, Kira, J., additional, Kusunoki, S., additional, and Hara, T., additional

Published
2016
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25. Cytokine-related and sodium channel polymorphism as candidate predisposing factors for childhood encephalopathy FIRES/AERRPS

Author

Saitoh, M., primary, Kobayashi, K., additional, Ohmori, I., additional, Tanaka, Y., additional, Tanaka, K., additional, Inoue, T., additional, Horino, A., additional, Ohmura, K., additional, Kumakura, A., additional, Takei, Y., additional, Hirabayashi, S., additional, Kajimoto, M., additional, Uchida, T., additional, Yamazaki, S., additional, Shiihara, T., additional, Kumagai, T., additional, Kasai, M., additional, Terashima, H., additional, Kubota, M., additional, and Mizuguchi, M., additional

Published
2016
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26. SEM analysis of microstructure of adhesive interface between resin cement and dentin treated with self-etching primer

Author

Tohru Hayakawa, Eiji Yoshida, and Hirabayashi S

Subjects
musculoskeletal diseases, Materials science, Surface Properties, Polyurethanes, Smear layer, Dental bonding, engineering.material, Composite Resins, Polyethylene Glycols, stomatognathic system, Acid Etching, Dental, Polymethacrylic Acids, Materials Testing, Dentin, medicine, Animals, Phosphoric Acids, Composite material, General Dentistry, Cement, Primer (paint), Viscosity, technology, industry, and agriculture, Dental Bonding, Adhesiveness, Tricarboxylic Acids, Adhesion, equipment and supplies, Microstructure, Resin Cements, surgical procedures, operative, medicine.anatomical_structure, Smear Layer, Ceramics and Composites, engineering, Microscopy, Electron, Scanning, Methacrylates, Cattle, Adhesive, Collagen, Stress, Mechanical
Abstract

The purpose of this study was to examine the microstructure of the adhesive interface between resin cement and dentin treated with a self-etching primer by SEM in order to clarify the adhesive efficiencies of four self-etch type resin cement systems, Bistite II (BII), Linkmax (LM), Panavia F2.0 (PF), and ResiCem (RC) to dentin. The fluidity and inorganic filler content of these cements were also determined to examine their influences on the adhesion. A hybrid layer with 0.5-1.5 µm thickness and many resin tags could be confirmed clearly at the interface between BII cement and dentin, but was not observed distinctly for the other resin cements. It was suggested that the hybrid layer and resin tags might contribute to the high adhesive efficiency for BII. As the fluidity of cement had been adjusted to be suitable for luting in all cements, it did not significantly influence the adhesive efficiency of cement.

Published
2011

28. 48 GATA2-RELATED MYELODYSPLASTIC SYNDROMES (MDS): PREVALENCE, CLINICAL CHARACTERISTICS AND PROGNOSIS

Author

Wlodarski, M., primary, Hirabayashi, S., additional, Pastor, V., additional, Stary, J., additional, Hasle, H., additional, Masetti, R., additional, Dworzak, M., additional, Schmugge, M., additional, van den Heuvel-Eibrink, M., additional, De Moerloose, B., additional, Ussowicz, M., additional, Catala, A., additional, Smith, O., additional, Goehring, G., additional, Schlegelberger, B., additional, Locatelli, F., additional, Makishima, H., additional, Maciejewski, J., additional, Strahm, B., additional, and Niemeyer, C., additional

Published
2015
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31. Spliceosomal gene aberrations are rare, coexist with oncogenic mutations, and are unlikely to exert a driver effect in childhood MDS and JMML

Author

Hirabayashi, S. (Shinsuke), Flotho, C. (Christian), Moetter, J. (Jessica), Heuser, M. (Michael), Hasle, H. (Henrik), Gruhn, B. (Bernd), Klingebiel, T. (Thomas), Thol, F. (Felicitas), Schlegelberger, B. (Brigitte), Baumann, I. (Irith), Strahm, B. (Brigitte), Stary, J. (Jan), Locatelli, F. (Franco), Zecca, M. (Marco), Bergstraesser, E. (Eva), Dworzak, M.N. (Michael), Heuvel-Eibrink, M.M. (Marry) van den, Moerloose, B. (Barbara) de, Ogawa, S. (Susumu), Niemeyer, C.M. (Charlotte), Wlodarski, M. (Marcin), Hirabayashi, S. (Shinsuke), Flotho, C. (Christian), Moetter, J. (Jessica), Heuser, M. (Michael), Hasle, H. (Henrik), Gruhn, B. (Bernd), Klingebiel, T. (Thomas), Thol, F. (Felicitas), Schlegelberger, B. (Brigitte), Baumann, I. (Irith), Strahm, B. (Brigitte), Stary, J. (Jan), Locatelli, F. (Franco), Zecca, M. (Marco), Bergstraesser, E. (Eva), Dworzak, M.N. (Michael), Heuvel-Eibrink, M.M. (Marry) van den, Moerloose, B. (Barbara) de, Ogawa, S. (Susumu), Niemeyer, C.M. (Charlotte), and Wlodarski, M. (Marcin)

Abstract

Somatic mutations of the spliceosomal machinery occur frequently in adult patients with myelodysplastic syndrome (MDS). We resequenced SF3B1, U2AF35, and SRSF2 in 371 children with MDS or juvenile myelomonocytic leukemia. We found missense mutations in 2 juvenile myelomonocytic leukemia cases and in 1 child with systemic mastocytosis with MDS. In 1 juvenile myelomonocytic leukemia patient, the SRSF2 mutation that initially coexisted with an oncogenic NRAS mutation was absent at relapse, whereas the NRAS mutation persisted and a second, concomitant NRAS mutation later emerged. The patient with systemic mastocytosis and MDS carried both mutated U2AF35 and KIT in a single clone as confirmed by clonal sequencing. In the adult MDS patients sequenced for control purposes, we detected previously reported mutations in 7/30 and a novel SRSF2 deletion (c.284-307del) in 3 of 30 patients. These findings implicate that spliceosome mutations are rare in pediatric MDS and juvenile myelomonocytic leukemia and are unlikely to operate as driver mutations.

Published
2012
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33. Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome

Author

Nakamura, K., primary, Kato, M., additional, Osaka, H., additional, Yamashita, S., additional, Nakagawa, E., additional, Haginoya, K., additional, Tohyama, J., additional, Okuda, M., additional, Wada, T., additional, Shimakawa, S., additional, Imai, K., additional, Takeshita, S., additional, Ishiwata, H., additional, Lev, D., additional, Lerman-Sagie, T., additional, Cervantes-Barragan, D. E., additional, Villarroel, C. E., additional, Ohfu, M., additional, Writzl, K., additional, Gnidovec Strazisar, B., additional, Hirabayashi, S., additional, Chitayat, D., additional, Myles Reid, D., additional, Nishiyama, K., additional, Kodera, H., additional, Nakashima, M., additional, Tsurusaki, Y., additional, Miyake, N., additional, Hayasaka, K., additional, Matsumoto, N., additional, and Saitsu, H., additional

Published
2013
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42. The extent of polymerization of Class II light-cured composite resin restorations; effects of incremental placement technique, exposure time and heating for resin inlays

Author

James A.A. Hood, Hirabayashi S, and Tadashi Hirasawa

Subjects
Large class, Materials science, Inlay, Light, Resin restorations, Composite number, Polyurethanes, technology, industry, and agriculture, Hybrid type, Acrylic Resins, Composite Resins, stomatognathic system, Polymerization, Hardness, Inlays, Ceramics and Composites, Knoop hardness test, Transmittance, Humans, Methacrylates, Bisphenol A-Glycidyl Methacrylate, Composite material, Dental Cavity Preparation, General Dentistry
Abstract

The extent of polymerization of light-cured composite resins cured in relatively large class II cavities was estimated by measuring Knoop hardness on sectioned surfaces of resin restorations. The influences of the incremental placement technique, exposure time, and post-curing of resin inlay on the extent of polymerization of two different resin materials were examined. For both MFR type (HE) and hybrid type (P50) materials, the 3-step incremental placement technique was superior when the cavity was restored by the direct filling method. For resin inlays, the post-heating improved the conversion of resin restorations. However, because the final degree of conversion of resin attained by heating was influenced by the initial conversion of the resin at the stage of light-curing, the 2-step incremental placement technique was recommended at the light-curing stage for even resin inlays. As the exposure time is influenced by the transmittance of material and the intensity of activator light, it should be optimized in accordance with manufacturers' directions.

Published
1993

44. Improvements to light transmittance in light-cured composite resins by the utilisation of low refractive index dimethacrylates

Author

Tadashi Hirasawa and Hirabayashi S

Subjects
chemistry.chemical_classification, Optics and Photonics, Materials science, Light, Bisphenol, Composite number, Decane, UDMA, Composite Resins, chemistry.chemical_compound, Alicyclic compound, Refractometry, Monomer, chemistry, Hardness, Ceramics and Composites, Transmittance, Methacrylates, Composite material, General Dentistry, Refractive index
Abstract

In an effort to improve the light transmittance of light-cured composite resins while avoiding degradation of their physical properties, 4 dimethacrylates having low refractive indices and a bulky backbones such as alicyclic or fluorine-substituted bisphenol groups were synthesized. The depths of cure and physical properties of 6 experimental composite resins containing these new monomers were, then, examined and compared to those of 3 control composite resins containing UDMA, BisMEPP, or BisGMA.The depths of cure of the experimental group containing the synthesized monomers were greater than those of the control group with the exception of the composite containing UDMA. The depth of cure increased as the difference between the refractive indices of the matrix monomer and silica filler decreased.The physical properties of 2 composites in the experimental group were comparable to those of the control group. The matrix monomers of these 2 composites were a mixture of 4, 8-dimethacryloxymethylene tricyclo [5.2.1.02, 6] decane or 2, 2-bis (4-methacryloxyethoxy phenyl) hexafluoropropane and TEGDMA in a molar ratio of 1/1.

Published
1990

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