Search

Your search keyword '"'Aho T"' showing total 7 results
Start Over Author "'Aho T" Publisher nature publishing group
7 results on '"'Aho T"'

1. The KMT2A recombinome of acute leukemias in 2023

Author

Meyer, C, Larghero, P, Almeida Lopes, B; https://orcid.org/0000-0003-1072-470X, Burmeister, T; https://orcid.org/0000-0003-4843-2876, Gröger, D, Sutton, R; https://orcid.org/0000-0002-0188-6005, Venn, N C, Cazzaniga, G, Corral Abascal, L, Tsaur, G, Fechina, L, Emerenciano, M; https://orcid.org/0000-0003-2337-8420, Pombo-de-Oliveira, M S; https://orcid.org/0000-0002-1507-004X, Lund-Aho, T, Lundán, T, Montonen, M, Juvonen, V, Zuna, J; https://orcid.org/0000-0002-0887-3709, Trka, J, Ballerini, P, Lapillonne, H, Van der Velden, V H J; https://orcid.org/0000-0001-9457-3763, Sonneveld, E, Delabesse, E, de Matos, R R C; https://orcid.org/0000-0002-8737-1669, Silva, M L M; https://orcid.org/0000-0003-2549-1320, Bomken, S; https://orcid.org/0000-0001-9163-5738, Katsibardi, K, Keernik, M, Schäfer, Beat W; https://orcid.org/0000-0001-5988-2915, et al, Meyer, C, Larghero, P, Almeida Lopes, B; https://orcid.org/0000-0003-1072-470X, Burmeister, T; https://orcid.org/0000-0003-4843-2876, Gröger, D, Sutton, R; https://orcid.org/0000-0002-0188-6005, Venn, N C, Cazzaniga, G, Corral Abascal, L, Tsaur, G, Fechina, L, Emerenciano, M; https://orcid.org/0000-0003-2337-8420, Pombo-de-Oliveira, M S; https://orcid.org/0000-0002-1507-004X, Lund-Aho, T, Lundán, T, Montonen, M, Juvonen, V, Zuna, J; https://orcid.org/0000-0002-0887-3709, Trka, J, Ballerini, P, Lapillonne, H, Van der Velden, V H J; https://orcid.org/0000-0001-9457-3763, Sonneveld, E, Delabesse, E, de Matos, R R C; https://orcid.org/0000-0002-8737-1669, Silva, M L M; https://orcid.org/0000-0003-2549-1320, Bomken, S; https://orcid.org/0000-0001-9163-5738, Katsibardi, K, Keernik, M, Schäfer, Beat W; https://orcid.org/0000-0001-5988-2915, and et al

Abstract

Chromosomal rearrangements of the human KMT2A/MLL gene are associated with de novo as well as therapy-induced infant, pediatric, and adult acute leukemias. Here, we present the data obtained from 3401 acute leukemia patients that have been analyzed between 2003 and 2022. Genomic breakpoints within the KMT2A gene and the involved translocation partner genes (TPGs) and KMT2A-partial tandem duplications (PTDs) were determined. Including the published data from the literature, a total of 107 in-frame KMT2A gene fusions have been identified so far. Further 16 rearrangements were out-of-frame fusions, 18 patients had no partner gene fused to 5'-KMT2A, two patients had a 5'-KMT2A deletion, and one ETV6::RUNX1 patient had an KMT2A insertion at the breakpoint. The seven most frequent TPGs and PTDs account for more than 90% of all recombinations of the KMT2A, 37 occur recurrently and 63 were identified so far only once. This study provides a comprehensive analysis of the KMT2A recombinome in acute leukemia patients. Besides the scientific gain of information, genomic breakpoint sequences of these patients were used to monitor minimal residual disease (MRD). Thus, this work may be directly translated from the bench to the bedside of patients and meet the clinical needs to improve patient survival.

Published
2023

2. The MLL recombinome of acute leukemias in 2017

Author

Meyer, C, Burmeister, T, Gröger, D, Tsaur, G, Fechina, L, Renneville, A, Sutton, R, Venn, N, Emerenciano, M, Pombo-De-Oliveira, M, Barbieri Blunck, C, Almeida Lopes, B, Zuna, J, Trka, J, Ballerini, P, Lapillonne, H, De Braekeleer, M, Cazzaniga, G, Corral Abascal, L, Van Der Velden, V, Delabesse, E, Park, T, Oh, S, Silva, M, Lund-Aho, T, Juvonen, V, Moore, A, Heidenreich, O, Vormoor, J, Zerkalenkova, E, Olshanskaya, Y, Bueno, C, Menendez, P, Teigler-Schlegel, A, Zur Stadt, U, Lentes, J, Göhring, G, Kustanovich, A, Aleinikova, O, Schäfer, B, Kubetzko, S, Madsen, H, Gruhn, B, Duarte, X, Gameiro, P, Lippert, E, Bidet, A, Cayuela, J, Clappier, E, Alonso, C, Zwaan, C, Van Den Heuvel-Eibrink, M, Izraeli, S, Trakhtenbrot, L, Archer, P, Hancock, J, Möricke, A, Alten, J, Schrappe, M, Stanulla, M, Strehl, S, Attarbaschi, A, Dworzak, M, Haas, O, Panzer-Grümayer, R, Sedék, L, Szczepa, T, Caye, A, Suarez, L, Cavé, H, Marschalek, R, Meyer, C., Burmeister, T., Gröger, D., Tsaur, G., Fechina, L., Renneville, A., Sutton, R., Venn, N. C., Emerenciano, M., Pombo-De-Oliveira, M. S., Barbieri Blunck, C., Almeida Lopes, B., Zuna, J., Trka, J., Ballerini, P., Lapillonne, H., De Braekeleer, M., Cazzaniga, G., Corral Abascal, L., Van Der Velden, V. H. J., Delabesse, E., Park, T. S., Oh, S. H., Silva, M. L. M., Lund-Aho, T., Juvonen, V., Moore, A. S., Heidenreich, O., Vormoor, J., Zerkalenkova, E., Olshanskaya, Y., Bueno, C., Menendez, P., Teigler-Schlegel, A., Zur Stadt, U., Lentes, J., Göhring, G., Kustanovich, A., Aleinikova, O., Schäfer, B. W., Kubetzko, S., Madsen, H. O., Gruhn, B., Duarte, X., Gameiro, P., Lippert, E., Bidet, A., Cayuela, J. M., Clappier, E., Alonso, C. N., Zwaan, C. M., Van Den Heuvel-Eibrink, M. M., Izraeli, S., Trakhtenbrot, L., Archer, P., Hancock, J., Möricke, A., Alten, J., Schrappe, M., Stanulla, M., Strehl, S., Attarbaschi, A., Dworzak, M., Haas, O. A., Panzer-Grümayer, R., Sedék, L., Szczepa, T., Caye, A., Suarez, L., Cavé, H., Marschalek, R., Meyer, C, Burmeister, T, Gröger, D, Tsaur, G, Fechina, L, Renneville, A, Sutton, R, Venn, N, Emerenciano, M, Pombo-De-Oliveira, M, Barbieri Blunck, C, Almeida Lopes, B, Zuna, J, Trka, J, Ballerini, P, Lapillonne, H, De Braekeleer, M, Cazzaniga, G, Corral Abascal, L, Van Der Velden, V, Delabesse, E, Park, T, Oh, S, Silva, M, Lund-Aho, T, Juvonen, V, Moore, A, Heidenreich, O, Vormoor, J, Zerkalenkova, E, Olshanskaya, Y, Bueno, C, Menendez, P, Teigler-Schlegel, A, Zur Stadt, U, Lentes, J, Göhring, G, Kustanovich, A, Aleinikova, O, Schäfer, B, Kubetzko, S, Madsen, H, Gruhn, B, Duarte, X, Gameiro, P, Lippert, E, Bidet, A, Cayuela, J, Clappier, E, Alonso, C, Zwaan, C, Van Den Heuvel-Eibrink, M, Izraeli, S, Trakhtenbrot, L, Archer, P, Hancock, J, Möricke, A, Alten, J, Schrappe, M, Stanulla, M, Strehl, S, Attarbaschi, A, Dworzak, M, Haas, O, Panzer-Grümayer, R, Sedék, L, Szczepa, T, Caye, A, Suarez, L, Cavé, H, Marschalek, R, Meyer, C., Burmeister, T., Gröger, D., Tsaur, G., Fechina, L., Renneville, A., Sutton, R., Venn, N. C., Emerenciano, M., Pombo-De-Oliveira, M. S., Barbieri Blunck, C., Almeida Lopes, B., Zuna, J., Trka, J., Ballerini, P., Lapillonne, H., De Braekeleer, M., Cazzaniga, G., Corral Abascal, L., Van Der Velden, V. H. J., Delabesse, E., Park, T. S., Oh, S. H., Silva, M. L. M., Lund-Aho, T., Juvonen, V., Moore, A. S., Heidenreich, O., Vormoor, J., Zerkalenkova, E., Olshanskaya, Y., Bueno, C., Menendez, P., Teigler-Schlegel, A., Zur Stadt, U., Lentes, J., Göhring, G., Kustanovich, A., Aleinikova, O., Schäfer, B. W., Kubetzko, S., Madsen, H. O., Gruhn, B., Duarte, X., Gameiro, P., Lippert, E., Bidet, A., Cayuela, J. M., Clappier, E., Alonso, C. N., Zwaan, C. M., Van Den Heuvel-Eibrink, M. M., Izraeli, S., Trakhtenbrot, L., Archer, P., Hancock, J., Möricke, A., Alten, J., Schrappe, M., Stanulla, M., Strehl, S., Attarbaschi, A., Dworzak, M., Haas, O. A., Panzer-Grümayer, R., Sedék, L., Szczepa, T., Caye, A., Suarez, L., Cavé, H., and Marschalek, R.

Abstract

Chromosomal rearrangements of the human MLL/KMT2A gene are associated with infant, pediatric, adult and therapy-induced acute leukemias. Here we present the data obtained from 2345 acute leukemia patients. Genomic breakpoints within the MLL gene and the involved translocation partner genes (TPGs) were determined and 11 novel TPGs were identified. Thus, a total of 135 different MLL rearrangements have been identified so far, of which 94 TPGs are now characterized at the molecular level. In all, 35 out of these 94 TPGs occur recurrently, but only 9 specific gene fusions account for more than 90% of all illegitimate recombinations of the MLL gene. We observed an age-dependent breakpoint shift with breakpoints localizing within MLL intron 11 associated with acute lymphoblastic leukemia and younger patients, while breakpoints in MLL intron 9 predominate in AML or older patients. The molecular characterization of MLL breakpoints suggests different etiologies in the different age groups and allows the correlation of functional domains of the MLL gene with clinical outcome. This study provides a comprehensive analysis of the MLL recombinome in acute leukemia and demonstrates that the establishment of patient-specific chromosomal fusion sites allows the design of specific PCR primers for minimal residual disease analyses for all patients

Published
2018

3. The MLL recombinome of acute leukemias in 2017

Author

Hubrecht Institute with UMC, Meyer, C, Burmeister, T, Gröger, D, Tsaur, G, Fechina, L, Renneville, A, Sutton, R, Venn, N C, Emerenciano, M, Pombo-de-Oliveira, M S, Barbieri Blunck, C, Almeida Lopes, B, Zuna, J, Trka, J, Ballerini, P, Lapillonne, H, De Braekeleer, M, Cazzaniga, G, Corral Abascal, L, van der Velden, V H J, Delabesse, E, Park, T S, Oh, S H, Silva, M L M, Lund-Aho, T, Juvonen, V, Moore, A S, Heidenreich, O, Vormoor, J, Zerkalenkova, E, Olshanskaya, Y, Bueno, C, Menendez, P, Teigler-Schlegel, A, Zur Stadt, U, Lentes, J, Göhring, G, Kustanovich, A, Aleinikova, O, Schäfer, B W, Kubetzko, S, Madsen, H O, Gruhn, B, Duarte, X, Gameiro, P, Lippert, E, Bidet, A, Cayuela, J M, Clappier, E, Alonso, C N, Zwaan, C M, van den Heuvel-Eibrink, M M, Izraeli, S, Trakhtenbrot, L, Archer, P, Hancock, J, Möricke, A, Alten, J, Schrappe, M, Stanulla, M, Strehl, S, Attarbaschi, A, Dworzak, M, Haas, O A, Panzer-Grümayer, R, Sedék, L, Szczepański, T, Caye, A, Suarez, L, Cavé, H, Marschalek, R, Hubrecht Institute with UMC, Meyer, C, Burmeister, T, Gröger, D, Tsaur, G, Fechina, L, Renneville, A, Sutton, R, Venn, N C, Emerenciano, M, Pombo-de-Oliveira, M S, Barbieri Blunck, C, Almeida Lopes, B, Zuna, J, Trka, J, Ballerini, P, Lapillonne, H, De Braekeleer, M, Cazzaniga, G, Corral Abascal, L, van der Velden, V H J, Delabesse, E, Park, T S, Oh, S H, Silva, M L M, Lund-Aho, T, Juvonen, V, Moore, A S, Heidenreich, O, Vormoor, J, Zerkalenkova, E, Olshanskaya, Y, Bueno, C, Menendez, P, Teigler-Schlegel, A, Zur Stadt, U, Lentes, J, Göhring, G, Kustanovich, A, Aleinikova, O, Schäfer, B W, Kubetzko, S, Madsen, H O, Gruhn, B, Duarte, X, Gameiro, P, Lippert, E, Bidet, A, Cayuela, J M, Clappier, E, Alonso, C N, Zwaan, C M, van den Heuvel-Eibrink, M M, Izraeli, S, Trakhtenbrot, L, Archer, P, Hancock, J, Möricke, A, Alten, J, Schrappe, M, Stanulla, M, Strehl, S, Attarbaschi, A, Dworzak, M, Haas, O A, Panzer-Grümayer, R, Sedék, L, Szczepański, T, Caye, A, Suarez, L, Cavé, H, and Marschalek, R

Published
2018

4. The MLL recombinome of acute leukemias in 2017

Author

Elena Zerkalenkova, A Bidet, Anatoly Kustanovich, C Barbieri Blunck, Hans O. Madsen, Jeremy Hancock, Sabine Strehl, Hélène Cavé, Beat W. Schäfer, Aurélie Caye, Jana Lentes, L Corral Abascal, Giovanni Cazzaniga, B Almeida Lopes, M. De Braekeleer, Eric Lippert, Aline Renneville, Grigory Tsaur, Julia Alten, Oskar A. Haas, Lukasz Sedek, Eric Delabesse, Martin Stanulla, Maria Luiza Macedo Silva, Emmanuelle Clappier, Anja Möricke, Christian Meyer, Mariana Emerenciano, Martin Schrappe, Hélène Lapillonne, Rosemary Sutton, Thomas Burmeister, Rolf Marschalek, Michael Dworzak, T Lund-Aho, V H J van der Velden, Clara Bueno, Paola Ballerini, Jan Trka, Maria S. Pombo-de-Oliveira, Yulia Olshanskaya, Daniela Gröger, Shai Izraeli, Olga Aleinikova, Gudrun Göhring, Vesa Juvonen, Andishe Attarbaschi, Nicola C. Venn, S Kubetzko, J M Cayuela, Andrew S. Moore, T S Park, Paula Gameiro, S H Oh, Christian M. Zwaan, Renate Panzer-Grümayer, L Suarez, X Duarte, Josef Vormoor, Olaf Heidenreich, P Archer, Pablo Menendez, Bernd Gruhn, Jan Zuna, Cristina N. Alonso, M M van den Heuvel-Eibrink, Andrea Teigler-Schlegel, L. Trakhtenbrot, U zur Stadt, L Fechina, Tomasz Szczepański, Immunology, Pediatrics, Meyer, C, Burmeister, T, Gröger, D, Tsaur, G, Fechina, L, Renneville, A, Sutton, R, Venn, N, Emerenciano, M, Pombo-De-Oliveira, M, Barbieri Blunck, C, Almeida Lopes, B, Zuna, J, Trka, J, Ballerini, P, Lapillonne, H, De Braekeleer, M, Cazzaniga, G, Corral Abascal, L, Van Der Velden, V, Delabesse, E, Park, T, Oh, S, Silva, M, Lund-Aho, T, Juvonen, V, Moore, A, Heidenreich, O, Vormoor, J, Zerkalenkova, E, Olshanskaya, Y, Bueno, C, Menendez, P, Teigler-Schlegel, A, Zur Stadt, U, Lentes, J, Göhring, G, Kustanovich, A, Aleinikova, O, Schäfer, B, Kubetzko, S, Madsen, H, Gruhn, B, Duarte, X, Gameiro, P, Lippert, E, Bidet, A, Cayuela, J, Clappier, E, Alonso, C, Zwaan, C, Van Den Heuvel-Eibrink, M, Izraeli, S, Trakhtenbrot, L, Archer, P, Hancock, J, Möricke, A, Alten, J, Schrappe, M, Stanulla, M, Strehl, S, Attarbaschi, A, Dworzak, M, Haas, O, Panzer-Grümayer, R, Sedék, L, Szczepa, T, Caye, A, Suarez, L, Cavé, H, and Marschalek, R

Subjects
0301 basic medicine, Adult, Male, Cancer Research, MED/03 - GENETICA MEDICA, Oncogene Proteins, Fusion, Chromosome Aberration, Translocation, Genetic, 03 medical and health sciences, 0302 clinical medicine, hemic and lymphatic diseases, medicine, Humans, Child, neoplasms, Genetics, Chromosome Aberrations, Gene Rearrangement, Acute leukemia, biology, Breakpoint, Infant, Chromosome Breakage, Hematology, Gene rearrangement, Histone-Lysine N-Methyltransferase, Precursor Cell Lymphoblastic Leukemia-Lymphoma, medicine.disease, ta3122, Minimal residual disease, 3. Good health, Leukemia, Leukemia, Myeloid, Acute, 030104 developmental biology, KMT2A, Oncology, 030220 oncology & carcinogenesis, biology.protein, Myeloid-Lymphoid Leukemia Protein, Original Article, Female, Chromosome breakage, Human
Abstract

Chromosomal rearrangements of the human MLL/KMT2A gene are associated with infant, pediatric, adult and therapy-induced acute leukemias. Here we present the data obtained from 2345 acute leukemia patients. Genomic breakpoints within the MLL gene and the involved translocation partner genes (TPGs) were determined and 11 novel TPGs were identified. Thus, a total of 135 different MLL rearrangements have been identified so far, of which 94 TPGs are now characterized at the molecular level. In all, 35 out of these 94 TPGs occur recurrently, but only 9 specific gene fusions account for more than 90% of all illegitimate recombinations of the MLL gene. We observed an age-dependent breakpoint shift with breakpoints localizing within MLL intron 11 associated with acute lymphoblastic leukemia and younger patients, while breakpoints in MLL intron 9 predominate in AML or older patients. The molecular characterization of MLL breakpoints suggests different etiologies in the different age groups and allows the correlation of functional domains of the MLL gene with clinical outcome. This study provides a comprehensive analysis of the MLL recombinome in acute leukemia and demonstrates that the establishment of patient-specific chromosomal fusion sites allows the design of specific PCR primers for minimal residual disease analyses for all patients.

Published
2018
Full Text
View/download PDF

5. Rapid analysis of intraperitoneally administered morphine in mouse plasma and brain by microchip electrophoresis-electrochemical detection.

Author

Ollikainen E, Aitta-Aho T, Koburg M, Kostiainen R, and Sikanen T

Subjects
Animals, Injections, Intraperitoneal, Mice, Brain metabolism, Electrophoresis, Microchip, Morphine pharmacokinetics, Morphine pharmacology, Plasma metabolism
Abstract

Animal studies remain an essential part of drug discovery since in vitro models are not capable of describing the complete living organism. We developed and qualified a microchip electrophoresis-electrochemical detection (MCE-EC) method for rapid analysis of morphine in mouse plasma using a commercial MCE-EC device. Following liquid-liquid extraction (LLE), we achieved within-run precision of 3.7 and 4.5% (coefficient of variation, CV, n = 6) and accuracy of 106.9% and 100.7% at biologically relevant morphine concentrations of 5 and 20 µM in plasma, respectively. The same method was further challenged by morphine detection in mouse brain homogenates with equally good within-run precision (7.8% CV, n = 5) at 1 µM concentration. The qualified method was applied to analyze a set of plasma and brain homogenate samples derived from a behavioral animal study. After intraperitoneal administration of 20 mg/kg morphine hydrochloride, the detected morphine concentrations in plasma were between 6.7 and 17 µM. As expected, the morphine concentrations in the brain were significantly lower, ca. 80-125 nM (280-410 pg morphine/mg dissected brain), and could only be detected after preconcentration achieved during LLE. In all, the microchip-based separation system is proven feasible for rapid analysis of morphine to provide supplementary chemical information to behavioral animal studies.

Published
2019
Full Text
View/download PDF

6. Using a low melting solvent mixture to extract value from wood biomass.

Author

Hiltunen J, Kuutti L, Rovio S, Puhakka E, Virtanen T, Ohra-Aho T, and Vuoti S

Subjects
Catalysis, Freezing, Hydrolysis, Lignin chemistry, Biofuels, Biomass, Solvents chemistry, Wood chemistry
Abstract

Green chemistry, sustainability and eco-efficiency are guiding the development of the next generation of industrial chemical processes. The use of non-edible lignocellulosic biomass as a source of chemicals and fuels has recently raised interest due to the need for an alternative to fossil resources. Valorisation mainly focuses on cellulose, which has been used for various industrial scale applications for decades. However, creating an economically more viable value chain would require the exploitation of the other main components, hemicellulose and lignin. Here, we present a new low melting mixture composition based in boric acid and choline chloride, and demonstrate its efficiency in the fractionation of wood-based biomass for the production of non-condensed lignin, suitable for further use in the search for sustainable industrial applications, and for the selective conversion of hemicelluloses into valuable platform chemicals.

Published
2016
Full Text
View/download PDF

7. Neurosteroid Agonist at GABAA receptor induces persistent neuroplasticity in VTA dopamine neurons.

Author

Vashchinkina E, Manner AK, Vekovischeva O, den Hollander B, Uusi-Oukari M, Aitta-Aho T, and Korpi ER

Subjects
Action Potentials drug effects, Action Potentials genetics, Animals, Dopamine metabolism, Excitatory Amino Acid Agents pharmacology, Female, GABA Agents pharmacology, Glutamate Decarboxylase genetics, Green Fluorescent Proteins genetics, Green Fluorescent Proteins metabolism, In Vitro Techniques, Male, Mice, Mice, Inbred C57BL, Mice, Transgenic, Picrotoxin pharmacology, Pregnanolone analogs & derivatives, Pregnanolone pharmacology, Receptors, GABA-A genetics, gamma-Aminobutyric Acid pharmacology, Dopaminergic Neurons drug effects, Neuronal Plasticity drug effects, Neurotransmitter Agents pharmacology, Receptors, GABA-A metabolism, Ventral Tegmental Area cytology
Abstract

The main fast-acting inhibitory receptors in the mammalian brain are γ-aminobutyric acid type-A (GABAA) receptors for which neurosteroids, a subclass of steroids synthesized de novo in the brain, constitute a group of endogenous ligands with the most potent positive modulatory actions known. Neurosteroids can act on all subtypes of GABAA receptors, with a preference for δ-subunit-containing receptors that mediate extrasynaptic tonic inhibition. Pathological conditions characterized by emotional and motivational disturbances are often associated with perturbation in the levels of endogenous neurosteroids. We studied the effects of ganaxolone (GAN)-a synthetic analog of endogenous allopregnanolone that lacks activity on nuclear steroid receptors-on the mesolimbic dopamine (DA) system involved in emotions and motivation. A single dose of GAN in young mice induced a dose-dependent, long-lasting neuroplasticity of glutamate synapses of DA neurons ex vivo in the ventral tegmental area (VTA). Increased α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid (AMPA)/N-methyl-D-aspartate ratio and rectification of AMPA receptor responses even at 6 days after GAN administration suggested persistent synaptic targeting of GluA2-lacking AMPA receptors. This glutamate neuroplasticity was not observed in GABAA receptor δ-subunit-knockout (δ-KO) mice. GAN (500 nM) applied locally to VTA selectively increased tonic inhibition of GABA interneurons and triggered potentiation of DA neurons within 4 h in vitro. Place-conditioning experiments in adult wild-type C57BL/6J and δ-KO mice revealed aversive properties of repeated GAN administration that were dependent on the δ-subunits. Prolonged neuroadaptation to neurosteroids in the VTA might contribute to both the physiology and pathophysiology underlying processes and changes in motivation, mood, cognition, and drug addiction.

Published
2014
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results