Search Results - "TRUBICKA, Joanna"

Molecular Markers of Pediatric Solid Tumors-Diagnosis, Optimizing Treatments, and Determining Susceptibility: Current State and Future Directions by Trubicka, Joanna, Grajkowska, Wiesława, Dembowska-Bagińska, Bożenna

“…Advances in molecular technologies, from genomics and transcriptomics to epigenetics, are providing unprecedented insight into the molecular landscape of…”
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WHO CNS5 2021 classification of gliomas: a practical review and road signs for diagnosing pathologists and proper patho-clinical and neuro-oncological cooperation by Sejda, Aleksandra, Grajkowska, Wiesława, Trubicka, Joanna, Szutowicz, Ewa, Wojdacz, Tomasz, Kloc, Wojciech, Iżycka-Świeszewska, Ewa

“…The 5th edition of World Health Organization (WHO) Central Nervous System (CNS) tumours classification has transformed the pathological diagnosis of gliomas…”
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H2A.Z histone variants facilitate HDACi-dependent removal of H3.3K27M mutant protein in pediatric high-grade glioma cells by Leszczynska, Katarzyna B., Freitas-Huhtamäki, Amanda, Jayaprakash, Chinchu, Dzwigonska, Monika, Vitorino, Francisca N.L., Horth, Cynthia, Wojnicki, Kamil, Gielniewski, Bartlomiej, Szadkowska, Paulina, Kaza, Beata, Nazarian, Javad, Ciolkowski, Maciej K., Trubicka, Joanna, Grajkowska, Wieslawa, Garcia, Benjamin A., Majewski, Jacek, Kaminska, Bozena, Mieczkowski, Jakub

“…Diffuse intrinsic pontine gliomas (DIPGs) are deadly pediatric brain tumors, non-resectable due to brainstem localization and diffusive growth. Over 80% of…”
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Molecular identification of CNS NB-FOXR2, CNS EFT-CIC, CNS HGNET-MN1 and CNS HGNET-BCOR pediatric brain tumors using tumor-specific signature genes by Åastowska, Maria, Trubicka, Joanna, SobociÅska, Anna, Wojtas, Bartosz, Niemira, Magdalena, SzaÅkowska, Anna, KrÄtowski, Adam, KarkuciÅska-WiÄckowska, Agnieszka, Kaleta, Magdalena, Ejmont, Maria, Perek-Polnik, Marta, Dembowska-BagiÅska, Bożenna, Grajkowska, WiesÅawa, Matyja, Ewa

“…Abstract Four molecular types of rare central nervous system (CNS) tumors have been recently identified by gene methylation profiling: CNS Neuroblastoma with…”
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BCOR expression in paediatric pineoblastoma by Trubicka, Joanna, Łastowska, Maria, Karkucińska-Więckowska, Agnieszka, Niemira, Magdalena, Ejmont, Maria, Sowińska, Agnieszka, Pronicki, Maciej, Matyja, Ewa, Grajkowska, Wiesława

“…BCOR is expressed in a new brain tumour entity, i.e. ‘CNS tumour with BCOR internal tandem duplication’ (HGNET BCOR) but not in several other high grade…”
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The germline variants in DNA repair genes in pediatric medulloblastoma: a challenge for current therapeutic strategies by Trubicka, Joanna, Żemojtel, Tomasz, Hecht, Jochen, Falana, Katarzyna, Piekutowska-Abramczuk, Dorota, Płoski, Rafał, Perek-Polnik, Marta, Drogosiewicz, Monika, Grajkowska, Wiesława, Ciara, Elżbieta, Moszczyńska, Elżbieta, Dembowska-Bagińska, Bożenna, Perek, Danuta, Chrzanowska, Krystyna H, Krajewska-Walasek, Małgorzata, Łastowska, Maria

“…The defects in DNA repair genes are potentially linked to development and response to therapy in medulloblastoma. Therefore the purpose of this study was to…”
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Risk-Adapted Treatment Strategies with Pre-Irradiation Chemotherapy in Pediatric Medulloblastoma: Outcomes from the Polish Pediatric Neuro-Oncology Group by Perek-Polnik, Marta, Cochrane, Anne, Wang, Jinli, Chojnacka, Marzanna, Drogosiewicz, Monika, Filipek, Iwona, Swieszkowska, Ewa, Tarasinska, Magdalena, Grajkowska, Wiesława, Trubicka, Joanna, Kowalczyk, Paweł, Dembowska-Bagińskai, Bożenna, Abdelbaki, Mohamed S

“…Craniospinal irradiation (CSI) has been a major component of the standard of care treatment backbone for childhood medulloblastoma. However, chemotherapy…”
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Immunohistochemical detection of ALK protein identifies APC mutated medulloblastoma and differentiates the WNT-activated medulloblastoma from other types of posterior fossa childhood tumors by Łastowska, Maria, Trubicka, Joanna, Karkucińska-Więckowska, Agnieszka, Kaleta, Magdalena, Tarasińska, Magdalena, Perek-Polnik, Marta, Sobocińska, Anna Antonina, Dembowska-Bagińska, Bożenna, Grajkowska, Wiesława, Matyja, Ewa

“…Expression of the ALK gene strongly correlates with the WNT-activated medulloblastomas, which are routinely identified by detection of CTNNB1 mutation…”
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Transcriptional profiling of paediatric ependymomas identifies prognostically significant groups by Łastowska, Maria, Matyja, Ewa, Sobocińska, Anna, Wojtaś, Bartosz, Niemira, Magdalena, Szałkowska, Anna, Krętowski, Adam, Karkucińska‐Więckowska, Agnieszka, Kaleta, Magdalena, Ejmont, Maria, Tarasińska, Magdalena, Perek‐Polnik, Marta, Dembowska‐Bagińska, Bożenna, Pronicki, Maciej, Grajkowska, Wiesława, Trubicka, Joanna

“…The majority of supratentorial ependymomas in children contain oncogenic fusions, such as ZFTA–RELA or YAP1‐MAMLD1. In contrast, posterior fossa (PF)…”
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Smoking related cancers and loci at chromosomes 15q25, 5p15, 6p22.1 and 6p21.33 in the Polish population by Jaworowska, Ewa, Trubicka, Joanna, Lener, Marcin R, Masojć, Bartłomiej, Złowocka-Perłowska, Elżbieta, McKay, James D, Renard, Hélène, Oszutowska, Dorota, Wokołorczyk, Dominika, Lubiński, Jakub, Grodzki, Tomasz, Serwatowski, Piotr, Nej-Wołosiak, Katarzyna, Tołoczko-Grabarek, Aleksandra, Sikorski, Andrzej, Słojewski, Marcin, Jakubowska, Anna, Cybulski, Cezary, Lubiński, Jan, Scott, Rodney J

“…Genetic factors associated with the risk of smoking related cancers have until recently remained elusive. Since the publication of a genome-wide association…”
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Recurrent PALB2 mutations and the risk of cancers of bladder or kidney in Polish population by Złowocka-Perłowska, Elżbieta, Dębniak, Tadeusz, Słojewski, Marcin, Lemiński, Artur, Soczawa, Michał, van de Wetering, Thierry, Trubicka, Joanna, Kluźniak, Wojciech, Wokołorczyk, Dominika, Cybulski, Cezary, Lubiński, Jan

“…The role of PALB2 in carcinogenesis remains to be clarified. Our main goal was to determine the prevalence of PALB2 (509_510delGA and 172_175delTTGT) mutations…”
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Neuropathological characteristics of the brain in two patients with SLC19A3 mutations related to the biotin-thiamine-responsive basal ganglia disease by Pronicki, Maciej, Piekutowska-Abramczuk, Dorota, Jurkiewicz, Elżbieta, Rokicki, Dariusz, Ciara, Elżbieta, Trubicka, Joanna, Iwanicka-Pronicka, Katarzyna, Pajdowska, Magdalena, Migdał, Marek, Grajkowska, Wieslawa A

“…Biotin-thiamine-responsive basal ganglia disease is a severe form of a rare neurogenetic disorder caused by pathogenic molecular variants in the thiamine…”
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Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome by Piekutowska-Abramczuk, Dorota, Mierzewska, Hanna, Bekiesińska-Figatowska, Monika, Ciara, Elżbieta, Trubicka, Joanna, Pronicki, Maciej, Rokicki, Dariusz, Rydzanicz, Małgorzata, Płoski, Rafał, Pronicka, Ewa

“…Pathogenic molecular variants in the ADAR gene are a known cause of rare diseases, autosomal recessive Aicardi- Goutières syndrome type 6, severe infantile…”
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Identification of a novel inherited ALK variant M1199L in the WNT type of medulloblastoma by Trubicka, J, Szperl, M, Grajkowska, W, Karkucińska-Więckowska, A, Tarasińska, M, Falana, K, Dembowska-Bagińska, B, Łastowska, M

“…Rearrangements involving the ALK gene were identified in a variety of cancers, including paediatric tumour neuroblastoma where presence of ALK expression is…”
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Variant alleles of the CYP1B1 gene are associated with colorectal cancer susceptibility by Trubicka, Joanna, Grabowska-Kłujszo, Ewa, Suchy, Janina, Masojć, Bartłomiej, Serrano-Fernandez, Pablo, Kurzawski, Grzegorz, Cybulski, Cezary, Górski, Bohdan, Huzarski, Tomasz, Byrski, Tomasz, Gronwald, Jacek, Złowocka, Elzbieta, Kładny, Józef, Banaszkiewicz, Zbigniew, Wiśniowski, Rafał, Kowalska, Elzbieta, Lubinski, Jan, Scott, Rodney J

“…CYP1B1 is a P450 enzyme which is involved in the activation of pro-carcinogens to carcinogens as well as sex hormone metabolism. Because differences in the…”
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DNA and RNA analyses in detection of genetic predisposition to cancer by Kurzawski, Grzegorz, Dymerska, Dagmara, Serrano-Fernández, Pablo, Trubicka, Joanna, Masojć, Bartłomiej, Jakubowska, Anna, Scott, Rodney J

“…During the past decade many new molecular methods for DNA and RNA analysis have emerged. The most popular thus far have been SSCP, HET, CMC, DGGE, RFLP or ASA,…”
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HGG-23. The presence ofROS1 fusions are not limited only to infantile hemispheric glioma by Trubicka, Joanna, Ciołkowski, Maciej, Perek-Polnik, Marta, Dembowska-Bagińska, Bożenna

“…INTRODUCTION: Diffuse pediatric-type high-grade gliomas are diffuse gliomas with histological features of malignancy, typically occurring in children, and…”
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HGG-23. The presence of ROS1 fusions are not limited only to infantile hemispheric glioma by Trubicka, Joanna, Ciołkowski, Maciej, Perek-Polnik, Marta, Dembowska-Bagińska, Bożenna

“…Abstract INTRODUCTION: Diffuse pediatric-type high-grade gliomas are diffuse gliomas with histological features of malignancy, typically occurring in children,…”
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DIPG-40. HYPOXIC STRESS EXPOSES EPIGENETIC TARGETS TO ENHANCE RADIOTHERAPY RESPONSE IN H3K27M-POSITIVE PEDIATRIC DIFFUSE MIDLINE GLIOMAS by de Freitas, Amanda Pereira, Dzwigonska, Monika, Trubicka, Joanna, Grajkowska, Wieslawa, Mieczkowski, Jakub, Kaminska, Bozena, Leszczynska, Katarzyna

“…Abstract Diffuse midline gliomas (DMGs) are the most challenging to treat pediatric high-grade gliomas, with a dismal prognosis of 9 to 15 months of median…”
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LGG-27. LOWER GRADE GLIOMA (LGG) IN INFANTS. ANALYSIS OF 25 NON-NF1 PATIENTS by Perek-Polnik, Marta, Drogosiewicz, Monika, Filipek, Iwona, Swieszkowska, Ewa, Tarasinska, Magdalena, Trubicka, Joanna, Grajkowska, Wieslawa, Kowalczyk, Pawel, Ciolkowski, Maciej, Jurkiewicz, Elzbieta, Dembowska-Baginska, Bozenna

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