Search Results - "Kakadia, Purvi M."

Mutations in SEC24D, Encoding a Component of the COPII Machinery, Cause a Syndromic Form of Osteogenesis Imperfecta by Garbes, Lutz, Kim, Kyungho, Rieß, Angelika, Hoyer-Kuhn, Heike, Beleggia, Filippo, Bevot, Andrea, Kim, Mi Jeong, Huh, Yang Hoon, Kweon, Hee-Seok, Savarirayan, Ravi, Amor, David, Kakadia, Purvi M., Lindig, Tobias, Kagan, Karl Oliver, Becker, Jutta, Boyadjiev, Simeon A., Wollnik, Bernd, Semler, Oliver, Bohlander, Stefan K., Kim, Jinoh, Netzer, Christian

“…As a result of a whole-exome sequencing study, we report three mutant alleles in SEC24D, a gene encoding a component of the COPII complex involved in protein…”
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Combined molecular and clinical prognostic index for relapse and survival in cytogenetically normal acute myeloid leukemia by Pastore, Friederike, Dufour, Annika, Benthaus, Tobias, Metzeler, Klaus H, Maharry, Kati S, Schneider, Stephanie, Ksienzyk, Bianka, Mellert, Gudrun, Zellmeier, Evelyn, Kakadia, Purvi M, Unterhalt, Michael, Feuring-Buske, Michaela, Buske, Christian, Braess, Jan, Sauerland, Maria Cristina, Heinecke, Achim, Krug, Utz, Berdel, Wolfgang E, Buechner, Thomas, Woermann, Bernhard, Hiddemann, Wolfgang, Bohlander, Stefan K, Marcucci, Guido, Spiekermann, Karsten, Bloomfield, Clara D, Hoster, Eva

“…Cytogenetically normal (CN) acute myeloid leukemia (AML) is the largest and most heterogeneous cytogenetic AML subgroup. For the practicing clinician, it is…”
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TOPORS E3 ligase mediates resistance to hypomethylating agent cytotoxicity in acute myeloid leukemia cells by Truong, Peter, Shen, Sylvie, Joshi, Swapna, Islam, Md Imtiazul, Zhong, Ling, Raftery, Mark J., Afrasiabi, Ali, Alinejad-Rokny, Hamid, Nguyen, Mary, Zou, Xiaoheng, Bhuyan, Golam Sarower, Sarowar, Chowdhury H., Ghodousi, Elaheh S., Stonehouse, Olivia, Mohamed, Sara, Toscan, Cara E., Connerty, Patrick, Kakadia, Purvi M., Bohlander, Stefan K., Michie, Katharine A., Larsson, Jonas, Lock, Richard B., Walkley, Carl R., Thoms, Julie A. I., Jolly, Christopher J., Pimanda, John E.

“…Hypomethylating agents (HMAs) are frontline therapies for Myelodysplastic Neoplasms (MDS) and Acute Myeloid Leukemia (AML). However, acquired resistance and…”
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RUNX1 mutations in cytogenetically normal acute myeloid leukemia are associated with a poor prognosis and up-regulation of lymphoid genes by GREIF, Philipp A, KONSTANDIN, Nikola P, BRAESS, Jan, SAUERLAND, Maria Cristina, BERDEL, Wolfgang E, BÜCHNER, Thomas, WOERMANN, Bernhard J, HIDDEMANN, Wolfgang, SPIEKERMANN, Karsten, BOHLANDER, Stefan K, METZELER, Klaus H, HEROLD, Tobias, PASALIC, Zlatana, KSIENZYK, Bianka, DUFOUR, Annika, SCHNEIDER, Friederike, SCHNEIDER, Stephanie, KAKADIA, Purvi M

“…The RUNX1 (AML1) gene is a frequent mutational target in myelodysplastic syndromes and acute myeloid leukemia. Previous studies suggested that RUNX1 mutations…”
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Exome sequencing identifies recurring FLT3 N676K mutations in core-binding factor leukemia by Opatz, Sabrina, Polzer, Harald, Herold, Tobias, Konstandin, Nikola P., Ksienzyk, Bianka, Zellmeier, Evelyn, Vosberg, Sebastian, Graf, Alexander, Krebs, Stefan, Blum, Helmut, Hopfner, Karl-Peter, Kakadia, Purvi M., Schneider, Stephanie, Dufour, Annika, Braess, Jan, Sauerland, Maria Cristina, Berdel, Wolfgang E., Büchner, Thomas, Woermann, Bernhard J., Hiddemann, Wolfgang, Spiekermann, Karsten, Bohlander, Stefan K., Greif, Philipp A.

“…The t(8;21) and inv(16)/t(16;16) rearrangements affecting the core-binding factors RUNX1 and CBFB, respectively, are found in 15% to 20% of adult de novo acute…”
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Derivation of Breast Cancer Cell Lines Under Physiological (5%) Oxygen Concentrations by Leung, Euphemia Y, Askarian-Amiri, Marjan E, Singleton, Dean C, Ferraro-Peyret, Carole, Joseph, Wayne R, Finlay, Graeme J, Broom, Reuben J, Kakadia, Purvi M, Bohlander, Stefan K, Marshall, Elaine, Baguley, Bruce C

“…Most human breast cancer cell lines currently in use were developed and are cultured under ambient (21%) oxygen conditions. While this is convenient in…”
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Monoallelic CEBPA mutations in normal karyotype acute myeloid leukemia: independent favorable prognostic factor within NPM1 mutated patients by Dufour, Annika, Schneider, Friederike, Hoster, Eva, Benthaus, Tobias, Ksienzyk, Bianka, Schneider, Stephanie, Kakadia, Purvi M., Sauerland, Maria-Cristina, Berdel, Wolfgang E., Büchner, Thomas, Wörmann, Bernhard, Braess, Jan, Subklewe, Marion, Hiddemann, Wolfgang, Bohlander, Stefan K., Spiekermann, Karsten

“…We and others have shown that cytogenetically normal (CN)-AML patients with biallelic CEBPA gene mutations (bi CEBPA ) represent a molecularly distinct group…”
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Expression analysis of genes located in the minimally deleted regions of 13q14 and 11q22-23 in chronic lymphocytic leukemia-unexpected expression pattern of the RHO GTPase activator ARHGAP20 by Herold, Tobias, Jurinovic, Vindi, Mulaw, Medhanie, Seiler, Till, Dufour, Annika, Schneider, Stephanie, Kakadia, Purvi M., Feuring-Buske, Michaela, Braess, Jan, Spiekermann, Karsten, Mansmann, Ulrich, Hiddemann, Wolfgang, Buske, Christian, Bohlander, Stefan K.

“…In chronic lymphocytic leukemia (CLL), 13q14 and 11q22‐23 deletions are found in 2/3 of the cases. 11q22‐23 deletions are associated with poor survival,…”
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An ETV6-ABL1 fusion in a patient with chronic myeloproliferative neoplasm: Initial response to Imatinib followed by rapid transformation into ALL by Kakadia, Purvi M, Schmidmaier, Ralf, Völkl, Andreas, Schneider, Irene, Huk, Natalia, Schneider, Stephanie, Panzner, Gerda, Neidel, Ulrike, Fritz, Barbara, Spiekermann, Karsten, Bohlander, Stefan K

“…Abstract We report the case of a 26 year-old patient presenting with a persistent leukocytosis and CML-like marrow but no evidence of a BCR/ABL1 fusion…”
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Biallelic ATP2B1 variants as a likely cause of a novel neurodevelopmental malformation syndrome with primary hypoparathyroidism by Yap, Patrick, Riley, Lisa G, Kakadia, Purvi M, Bohlander, Stefan K, Curran, Ben, Rahimi, Meer Jacob, Alburaiky, Salam, Hayes, Ian, Oppermann, Henry, Print, Cristin, Cooper, Sandra T, Le Quesne Stabej, Polona

“…ATP2B1 encodes plasma membrane calcium-transporting-ATPase1 and plays an essential role in maintaining intracellular calcium homeostasis that regulates diverse…”
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Contribution of mutant HSC clones to immature and mature cells in MDS and CMML, and variations with AZA therapy by Schnegg-Kaufmann, Annatina S., Thoms, Julie A. I., Bhuyan, Golam Sarower, Hampton, Henry R., Vaughan, Lachlin, Rutherford, Kayleigh, Kakadia, Purvi M., Lee, Hui Mei, Johansson, Emma M. V., Failes, Timothy W., Arndt, Greg M., Koval, Jason, Lindeman, Robert, Warburton, Pauline, Rodriguez-Meira, Alba, Mead, Adam J., Unnikrishnan, Ashwin, Davidson, Sarah, Polizzotto, Mark N., Hertzberg, Mark, Papaemmanuil, Elli, Bohlander, Stefan K., Faridani, Omid R., Jolly, Christopher J., Zanini, Fabio, Pimanda, John E.

“…•The mutational burden in HSCs is proportionally reflected throughout hematopoietic differentiation in MDS/CMML.•Improved hematopoiesis in response to AZA…”
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Clinical remission following ascorbate treatment in a case of acute myeloid leukemia with mutations in TET2 and WT1 by Das, Andrew B., Kakadia, Purvi M., Wojcik, Damian, Pemberton, Lucy, Browett, Peter J., Bohlander, Stefan K., Vissers, Margreet C. M.

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Plexin D1 negatively regulates zebrafish lymphatic development by Britto, Denver D, He, Jia, Misa, June P, Chen, Wenxuan, Kakadia, Purvi M, Grimm, Lin, Herbert, Caitlin D, Crosier, Kathryn E, Crosier, Philip S, Bohlander, Stefan K, Hogan, Benjamin M, Hall, Christopher J, Torres-Vázquez, Jesús, Astin, Jonathan W

“…Lymphangiogenesis is a dynamic process that involves the directed migration of lymphatic endothelial cells (LECs) to form lymphatic vessels. The molecular…”
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Unexpected variation in leukemia stem cell frequency and genetic heterogeneity in two murine leukemia models initiated by AML1/ETO9a and CALM/AF10 by Desai, Rhea, Taghavi, Sarvenaz, Chase, Jessica C., Chopra, Martin, Chien, Jenny, Browett, Peter J., Kakadia, Purvi M., Bohlander, Stefan K.

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Efficient identification of somatic mutations in acute myeloid leukaemia using whole exome sequencing of fingernail derived DNA as germline control by Kakadia, Purvi M., Van de Water, Neil, Browett, Peter J., Bohlander, Stefan K.

“…Recent advances in next-generation sequencing have made it possible to perform genome wide identification of somatic mutation in cancers. Most studies focus on…”
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GATA2 zinc finger 1 mutations associated with biallelic CEBPA mutations define a unique genetic entity of acute myeloid leukemia by Greif, Philipp A., Dufour, Annika, Konstandin, Nikola P., Ksienzyk, Bianka, Zellmeier, Evelyn, Tizazu, Belay, Sturm, Jutta, Benthaus, Tobias, Herold, Tobias, Yaghmaie, Marjan, Dörge, Petra, Hopfner, Karl-Peter, Hauser, Andreas, Graf, Alexander, Krebs, Stefan, Blum, Helmut, Kakadia, Purvi M., Schneider, Stephanie, Hoster, Eva, Schneider, Friederike, Stanulla, Martin, Braess, Jan, Sauerland, Maria Cristina, Berdel, Wolfgang E., Büchner, Thomas, Woermann, Bernhard J., Hiddemann, Wolfgang, Spiekermann, Karsten, Bohlander, Stefan K.

“…Cytogenetically normal acute myeloid leukemia (CN-AML) with biallelic CEBPA gene mutations (biCEPBA) represents a distinct disease entity with a favorable…”
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Isolated trisomy 13 defines a homogeneous AML subgroup with high frequency of mutations in spliceosome genes and poor prognosis by Herold, Tobias, Metzeler, Klaus H., Vosberg, Sebastian, Hartmann, Luise, Röllig, Christoph, Stölzel, Friedrich, Schneider, Stephanie, Hubmann, Max, Zellmeier, Evelyn, Ksienzyk, Bianka, Jurinovic, Vindi, Pasalic, Zlatana, Kakadia, Purvi M., Dufour, Annika, Graf, Alexander, Krebs, Stefan, Blum, Helmut, Sauerland, Maria Cristina, Büchner, Thomas, Berdel, Wolfgang E., Woermann, Bernhard J., Bornhäuser, Martin, Ehninger, Gerhard, Mansmann, Ulrich, Hiddemann, Wolfgang, Bohlander, Stefan K., Spiekermann, Karsten, Greif, Philipp A.

“…In acute myeloid leukemia (AML), isolated trisomy 13 (AML+13) is a rare chromosomal abnormality whose prognostic relevance is poorly characterized. We analyzed…”
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Functional CRISPR and shRNA Screens Identify Involvement of Mitochondrial Electron Transport in the Activation of Evofosfamide by Hunter, Francis W, Devaux, Jules B L, Meng, Fanying, Hong, Cho Rong, Khan, Aziza, Tsai, Peter, Ketela, Troy W, Sharma, Indumati, Kakadia, Purvi M, Marastoni, Stefano, Shalev, Zvi, Hickey, Anthony J R, Print, Cristin G, Bohlander, Stefan K, Hart, Charles P, Wouters, Bradly G, Wilson, William R

“…Evofosfamide (TH-302) is a hypoxia-activated DNA-crosslinking prodrug currently in clinical development for cancer therapy. Oxygen-sensitive activation of…”
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The FLT3ITD mRNA level has a high prognostic impact in NPM1 mutated, but not in NPM1 unmutated, AML with a normal karyotype by Schneider, Friederike, Hoster, Eva, Unterhalt, Michael, Schneider, Stephanie, Dufour, Annika, Benthaus, Tobias, Mellert, Gudrun, Zellmeier, Evelyn, Kakadia, Purvi M., Bohlander, Stefan K., Feuring-Buske, Michaela, Buske, Christian, Braess, Jan, Heinecke, Achim, Sauerland, Maria C., Berdel, Wolfgang E., Büchner, Thomas, Wörmann, Bernhard J., Hiddemann, Wolfgang, Spiekermann, Karsten

“…The impact of a FLT3-internal tandem duplication (FLT3ITD) on prognosis of patients with acute myeloid leukemia (AML) is dependent on the ratio of mutated to…”
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Inactivation of TP53 correlates with disease progression and low miR-34a expression in previously treated chronic lymphocytic leukemia patients by Dufour, Annika, Palermo, Giuseppe, Zellmeier, Evelyn, Mellert, Gudrun, Duchateau-Nguyen, Guillemette, Schneider, Stephanie, Benthaus, Tobias, Kakadia, Purvi M., Spiekermann, Karsten, Hiddemann, Wolfgang, Braess, Jan, Truong, Sim, Patten, Nancy, Wu, Lin, Lohmann, Sabine, Dornan, David, GuhaThakurta, Debraj, Yeh, Ru-Fang, Salogub, Galina, Solal-Celigny, Philippe, Dmoszynska, Anna, Robak, Tadeusz, Montillo, Marco, Catalano, John, Geisler, Christian H., Weisser, Martin, Bohlander, Stefan K.

“…In chronic lymphocytic leukemia (CLL) patients, disruptions of the TP53 tumor suppressor pathway by 17p13 deletion (del17p), somatic TP53 mutations, or…”
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