Search Results - "Sahoo, Sushree S."

Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7 by Pastor, Victor B, Sahoo, Sushree S, Boklan, Jessica, Schwabe, Georg C, Saribeyoglu, Ebru, Strahm, Brigitte, Lebrecht, Dirk, Voss, Matthias, Bryceson, Yenan T, Erlacher, Miriam, Ehninger, Gerhard, Niewisch, Marena, Schlegelberger, Brigitte, Baumann, Irith, Achermann, John C, Shimamura, Akiko, Hochrein, Jochen, Tedgård, Ulf, Nilsson, Lars, Hasle, Henrik, Boerries, Melanie, Busch, Hauke, Niemeyer, Charlotte M, Wlodarski, Marcin W

“…Familial myelodysplastic syndromes arise from haploinsufficiency of genes involved in hematopoiesis and are primarily associated with early-onset disease. Here…”
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Editorial: Advances in predisposition to bone marrow failure and hematopoietic neoplasms by Sahoo, Sushree S, Abdelhamed, Sherif, Mochizuki-Kashio, Makiko, Wahlster, Lara

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Monosomy 7 in Pediatric Myelodysplastic Syndromes by Wlodarski, Marcin W., MD, Sahoo, Sushree S., MSc, Niemeyer, Charlotte M., MD

“…Myelodysplastic syndromes (MDS) in children and adolescents are a rare heterogeneous group of clonal stem cell disorders. Complete or partial loss of…”
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Azacitidine is effective for targeting leukemia-initiating cells in juvenile myelomonocytic leukemia by Krombholz, Christopher F., Gallego-Villar, Lorena, Sahoo, Sushree S., Panda, Pritam K., Wlodarski, Marcin W., Aumann, Konrad, Hartmann, Mark, Lipka, Daniel B., Daskalakis, Michael, Plass, Christoph, Niemeyer, Charlotte M., Erlacher, Miriam, Flotho, Christian

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Impaired Overall Survival in Young Patients With Acute Myeloid Leukemia and Variants in Genes Predisposing for Myeloid Malignancies by Kirschner, Martin, Rolles, Benjamin, Crysandt, Martina, Röllig, Christoph, Stölzel, Friedrich, Kramer, Michael, Bornhäuser, Martin, Serve, Hubert, Platzbecker, Uwe, Müller‐Tidow, Carsten, Kricheldorf, Kim, Vieri, Margherita, Begemann, Matthias, Maurer, Angela, Wlodarski, Marcin W., Sahoo, Sushree S., Brümmendorf, Tim H., Jost, Edgar, Beier, Fabian

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Genetic and Clinical Spectrum of SAMD9 and SAMD9L Syndromes: from Variant Interpretation to Patient Management by Sahoo, Sushree S, Erlacher, Miriam, Wlodarski, Marcin W

“…SAMD9 and SAMD9L (SAMD9/9L) are paralogous genes encoding antiviral proteins that negatively regulate cell proliferation. Heterozygous germline…”
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Germline predisposition in myeloid neoplasms: Unique genetic and clinical features of GATA2 deficiency and SAMD9/SAMD9L syndromes by Sahoo, Sushree S., Kozyra, Emilia J., Wlodarski, Marcin W.

“…Increasing awareness about germline predisposition and the widespread application of unbiased whole exome sequencing contributed to the discovery of new…”
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Inducible Pluripotent Stem Cell Models to Study Bone Marrow Failure and MDS Predisposition Syndromes by Sahoo, Sushree S., Khiami, Majd, Wlodarski, Marcin W.

“…•iPSCs recapitulate key BMF/MDS phenotypes, aiding understanding of disease mechanisms and potential treatments•Most reported iPSC lines are derived from…”
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Germline GATA1 exon 2 mutation associated with chronic cytopenia and a non-down syndrome transient abnormal myelopoiesis with clonal trisomy 21 by Camargo, Ricardo, Sahoo, Sushree S., Córdoba, José Carlos, Magalhães, Isis Quezado

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Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue by Sharma, Richa, Sahoo, Sushree S., Honda, Masayoshi, Granger, Sophie L., Goodings, Charnise, Sanchez, Louis, Künstner, Axel, Busch, Hauke, Beier, Fabian, Pruett-Miller, Shondra M., Valentine, Marcus B., Fernandez, Alfonso G., Chang, Ti-Cheng, Géli, Vincent, Churikov, Dmitri, Hirschi, Sandrine, Pastor, Victor B., Boerries, Melanie, Lauten, Melchior, Kelaidi, Charikleia, Cooper, Megan A., Nicholas, Sarah, Rosenfeld, Jill A., Polychronopoulou, Sophia, Kannengiesser, Caroline, Saintomé, Carole, Niemeyer, Charlotte M., Revy, Patrick, Wold, Marc S., Spies, Maria, Erlacher, Miriam, Coulon, Stéphane, Wlodarski, Marcin W.

“…Human telomere biology disorders (TBD)/short telomere syndromes (STS) are heterogeneous disorders caused by inherited loss-of-function mutations in…”
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Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency by Kozyra, Emilia J., Pastor, Victor B., Lefkopoulos, Stylianos, Sahoo, Sushree S., Busch, Hauke, Voss, Rebecca K., Erlacher, Miriam, Lebrecht, Dirk, Szvetnik, Enikoe A., Hirabayashi, Shinsuke, Pasaulienė, Ramunė, Pedace, Lucia, Tartaglia, Marco, Klemann, Christian, Metzger, Patrick, Boerries, Melanie, Catala, Albert, Hasle, Henrik, de Haas, Valerie, Kállay, Krisztián, Masetti, Riccardo, De Moerloose, Barbara, Dworzak, Michael, Schmugge, Markus, Smith, Owen, Starý, Jan, Mejstrikova, Ester, Ussowicz, Marek, Morris, Emma, Singh, Preeti, Collin, Matthew, Derecka, Marta, Göhring, Gudrun, Flotho, Christian, Strahm, Brigitte, Locatelli, Franco, Niemeyer, Charlotte M., Trompouki, Eirini, Wlodarski, Marcin W.

“…Deficiency of the transcription factor GATA2 is a highly penetrant genetic disorder predisposing to myelodysplastic syndromes (MDS) and immunodeficiency. It…”
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Somatic mosaicism in inherited bone marrow failure syndromes by Gutierrez-Rodrigues, Fernanda, Sahoo, Sushree S., Wlodarski, Marcin W., Young, Neal S.

“…Inherited bone marrow failure syndromes (IBMFS) are a heterogenous group of diseases caused by pathogenic germline variants in key pathways associated with…”
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Nonlinear Flexural Analysis of Shallow Carbon/Epoxy Laminated Composite Curved Panels: Experimental and Numerical Investigation by Sahoo, Sushree S, Singh, Vijay K, Panda, Subrata K

“…AbstractIn this work, the nonlinear flexural behavior of laminated carbon/epoxy composite panels is investigated numerically using a generalized nonlinear…”
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Numerical investigation on the nonlinear flexural behaviour of wrapped glass/epoxy laminated composite panel and experimental validation by Sahoo, Sushree S., Panda, Subrata K., Singh, Vijay K., Mahapatra, Trupti R.

“…In this work, the geometrically nonlinear deflection responses of glass/epoxy composite flat/curved shell panel structure have been analysed theoretically with…”
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Systematic Mapping of Gene-Editable Mutations in GATA2 and SAMD9/SAMD9L Syndromes by Krzyzanowski, Damian, Sahoo, Sushree S, Kotmayer, Lili, Yoshida, Masanori, Khiami, Majd, Giorgetti, Alessandra, Tsai, Shengdar Q, Bhoopalan, Senthil V, Yen, Jonathan S, Wlodarski, Marcin W

“…Germline predisposition to bone marrow failure (BMF) and myelodysplastic syndromes (MDS) cause substantial economic and psychosocial burden and early mortality…”
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Static, free vibration and transient response of laminated composite curved shallow panel – An experimental approach by Sahoo, Sushree S., Panda, Subrata K., Mahapatra, Trupti R.

“…In this present article, the static, free vibration and the transient behavior of the laminated composite flat/curved panels have been investigated. The…”
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Online Platform for SAMD9 and SAMD9L Variant Annotation and Phenotype Correlation by Yoshida, Masanori, Andresen, Felicia, Yang, Hermann, Lewis, Sara, Erlacher, Miriam, Lebrecht, Dirk, Shimamura, Akiko, Niemeyer, Charlotte M., Sahoo, Sushree S, Wlodarski, Marcin W

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Mutational Permutations of a Single Amino Acid Exert Divergent Phenotypic Effects in Human, Mice, and Cellular Models of SAMD9L Bone Marrow Failure Disorder by Sahoo, Sushree S, Goodings-Harris, Charnise, Miller, Shondra, Lillo Osuna, Maria Angeles, Hansen, Baranda S, Han, Lei, Chang, Ti-Cheng, Lammens, Tim, Hofmans, Mattias, Derecka, Marta, De Moerloose, Barbara, Wlodarski, Marcin W

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Publisher Correction: Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes by Sahoo, Sushree S., Pastor, Victor B., Goodings, Charnise, Voss, Rebecca K., Kozyra, Emilia J., Szvetnik, Amina, Noellke, Peter, Dworzak, Michael, Starý, Jan, Locatelli, Franco, Masetti, Riccardo, Schmugge, Markus, De Moerloose, Barbara, Catala, Albert, Kállay, Krisztián, Turkiewicz, Dominik, Hasle, Henrik, Buechner, Jochen, Jahnukainen, Kirsi, Ussowicz, Marek, Polychronopoulou, Sophia, Smith, Owen P., Fabri, Oksana, Barzilai, Shlomit, de Haas, Valerie, Baumann, Irith, Schwarz-Furlan, Stephan, Niewisch, Marena R., Sauer, Martin G., Burkhardt, Birgit, Lang, Peter, Bader, Peter, Beier, Rita, Müller, Ingo, Albert, Michael H., Meisel, Roland, Schulz, Ansgar, Cario, Gunnar, Panda, Pritam K., Wehrle, Julius, Hirabayashi, Shinsuke, Derecka, Marta, Durruthy-Durruthy, Robert, Göhring, Gudrun, Yoshimi-Noellke, Ayami, Ku, Manching, Lebrecht, Dirk, Erlacher, Miriam, Flotho, Christian, Strahm, Brigitte, Niemeyer, Charlotte M., Wlodarski, Marcin W.

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Abstract A51: Divergent effects of MDS predisposing SAMD9L point mutations, in humans, mice, and cellular models by Sahoo, Sushree S, Goodings, Charnise, Pruett-Miller, Shondra M., Lillo, Maria A, Han, Lei, Hansen, Baranda, Chang, Ti-Cheng, Lammens, Tim, Hofmans, Mattias, Derecka, Marta, De Moerloose, Barbara, Wlodarski, Marcin W

“…Abstract We previously showed that germline SAMD9 and SAMD9L (SAMD9/9L) disorders are the most common predisposition to childhood myelodysplastic syndromes…”
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