نتائج البحث - "Emilia J. Kozyra"

1

Germline SAMD9/9L MDS Predisposition Syndromes Are Characterized By Complex Clonal Architecture and Lineage-Specific Escape Mechanisms Including Somatic Genetic Rescue in T and B Lymphocytes

المؤلفون: Charnise Goodings-Harris, Sushree Sangita Sahoo, Sara Lewis, Emilia J. Kozyra, Marc Arribas-Layton, Senthilkumar Ramamoorthy, Rohith Jesudas, Nathan Gray, Miriam Erlacher, Charlotte M. Niemeyer, Marcin W Wlodarski

المصدر: Blood. 140:1195-1196

مصطلحات موضوعية: Immunology, Cell Biology, Hematology, Biochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b2bfde383acd50503c31b9136a7e34bf
https://doi.org/10.1182/blood-2022-163337

2

Association of unbalanced translocation der(1;7) with germline GATA2 mutations

المؤلفون: Nadine Van Roy, Kirsi Jahnukainen, Danielle E. Arnold, Sioban Keel, Katherine R. Calvo, Gudrun Göhring, Cristina Mecucci, Charlotte M. Niemeyer, Joelle Tchinda, Alison A. Bertuch, Jochen Buechner, Dennis D. Hickstein, Olga Haus, Peter Nöllke, Shlomit Barzilai-Birenboim, Courtney D. DiNardo, Martin Čermák, Helena Alaiz, Ayami Yoshimi, Hiroto Inaba, Sara Lewis, Steven M. Holland, Shinsuke Hirabayashi, Brigitte Schlegelberger, Victor B Pastor, Dominik Turkiewicz, Emilia J Kozyra, Hajnalka Andrikovics, Amy P. Hsu, Mark D. Fleming, David R. Betts, Henrik Hasle, Karin Nebral, Masahiro Onozawa, Valerie de Haas, Jan Stary, José Cervera, Francesco Pasquali, Akiko Shimamura, Kalliopi N. Manola, Michael Dworzak, Kiran Tawana, Zuzana Zemanova, Marcin W. Wlodarski, Shaohua Lei, H. Berna Beverloo, Brigitte Strahm

المساهمون: Clinical Genetics

المصدر: Kozyra, E J, Göhring, G, Hickstein, D D, Calvo, K R, DiNardo, C D, Dworzak, M, de Haas, V, Starý, J, Hasle, H, Shimamura, A, Fleming, M D, Inaba, H, Lewis, S, Hsu, A P, Holland, S M, Arnold, D E, Mecucci, C, Keel, S B, Bertuch, A A, Tawana, K, Barzilai, S, Hirabayashi, S, Onozawa, M, Lei, S, Alaiz, H, Andrikovics, H, Betts, D, Beverloo, B H, Buechner, J, Čermák, M, Cervera, J, Haus, O, Jahnukainen, K, Manola, K N, Nebral, K, Pasquali, F, Tchinda, J, Turkiewicz, D, Van Roy, N, Zemanova, Z, Pastor, V B, Strahm, B, Noellke, P, Niemeyer, C M, Schlegelberger, B, Yoshimi, A & Wlodarski, M W 2021, ' Association of unbalanced translocation der(1;7) with germline GATA2 mutations ', Blood, vol. 138, no. 23, pp. 2441-2445 . https://doi.org/10.1182/blood.2021012781
Blood, 138(23), 2441-2445. American Society of Hematology
Blood
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac915d144b3e5e29067d37c55b8eaea0
https://pure.au.dk/ws/files/274410748/Primary_cytotoxic_T_cell_lymphomas_harbor_recurrent_targetable_alterations_in_the_JAK_STAT_pathway.pdf

3

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

المساهمون: 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 F., Niemeyer C.M., Trompouki E., Wlodarski M.W.

المصدر: Leukemia
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, Pasaulienė, R, Pedace, L, Tartaglia, M, Klemann, C, Metzger, P, Boerries, M, Catala, A, Hasle, H, de Haas, V, Kállay, K, Masetti, R, De Moerloose, B, Dworzak, M, Schmugge, M, Smith, O, Starý, J, Mejstrikova, E, Ussowicz, M, Morris, E, Singh, P, Collin, M, Derecka, M, Göhring, G, Flotho, C, Strahm, B, Locatelli, F, Niemeyer, C M, Trompouki, E, Wlodarski, M W & European Working Group of MDS in Childhood (EWOG-MDS) 2020, ' Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency ', Leukemia, vol. 34, no. 10, pp. 2673-2687 . https://doi.org/10.1038/s41375-020-0899-5
LEUKEMIA

مصطلحات موضوعية: Male, Cancer Research, GATA2 Deficiency, VARIANT, WORLD-HEALTH-ORGANIZATION, GATA-2, Exon, Genetics research, Medicine and Health Sciences, MDS, TRANSCRIPTION, Child, Exome, Genetics, GATA2, RNA, Genetic disorder, Hematology, ABSENCE, REVISION, GATA2 Transcription Factor, DIFFERENTIATION, Phenotype, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Oncology, Child, Preschool, RNA splicing, Female, Synonymous substitution, Haematological diseases, EXPRESSION, Silent mutation, Adult, Heterozygote, Adolescent, Biology, CLASSIFICATION, Article, Young Adult, Germline mutation, GATA2 mutations, children, myelodysplastic syndromes, medicine, Humans, Genetic Predisposition to Disease, MYELOID NEOPLASMS, Genetic Association Studies, Germ-Line Mutation, Silent Mutation, Immunologic Deficiency Syndromes, medicine.disease, Myelodysplastic Syndromes, LEUKEMIA