Pesquisa | BVS IEC

1.

Nonsense mutation in the novel PERCC1 gene as a genetic cause of congenital diarrhea and enteropathy.

Marek-Yagel, Dina; Stenke, Emily; Pode-Shakked, Ben; Dunne, Cara; Crushell, Ellen; Bryce-Smith, Anthea; McDermott, Michael; O'Sullivan, Maureen J; Veber, Alvit; Krishnamurthy, Mansa; Wells, James M; Anikster, Yair; Bourke, Billy.

Hum Genet ; 142(5): 691-696, 2023 May.

Artigo em Inglês | MEDLINE | ID: mdl-36076104

2.

Aberrant splicing in neuroblastoma generates RNA-fusion transcripts and provides vulnerability to spliceosome inhibitors.

Shi, Yao; Yuan, Juan; Rraklli, Vilma; Maxymovitz, Eva; Cipullo, Miriam; Liu, Mingzhi; Li, Shuijie; Westerlund, Isabelle; Bedoya-Reina, Oscar C; Bullova, Petra; Rorbach, Joanna; Juhlin, C Christofer; Stenman, Adam; Larsson, Catharina; Kogner, Per; O'Sullivan, Maureen J; Schlisio, Susanne; Holmberg, Johan.

Nucleic Acids Res ; 49(5): 2509-2521, 2021 03 18.

Artigo em Inglês | MEDLINE | ID: mdl-33555349

3.

HK1 haemolytic anaemia in association with a neurological phenotype and co-existing CEP290 Meckel-Gruber in a Romani family.

Sasaki, Erina; Phelan, Ethna; O'Regan, Mary; Kassim, Abdul Halim; Miletin, Jan; McMahon, Corrina; O'Sullivan, Maureen J; Baptista, Julia; Lynch, Sally Ann.

Clin Genet ; 101(1): 142-143, 2022 01.

Artigo em Inglês | MEDLINE | ID: mdl-34532855

4.

SMARCB1 loss induces druggable cyclin D1 deficiency via upregulation of MIR17HG in atypical teratoid rhabdoid tumors.

Xue, Yibo; Zhu, Xianbing; Meehan, Brian; Venneti, Sriram; Martinez, Daniel; Morin, Geneviève; Maïga, Rayelle I; Chen, Hongbo; Papadakis, Andreas I; Johnson, Radia M; O'Sullivan, Maureen J; Erdreich-Epstein, Anat; Gotlieb, Walter H; Park, Morag; Judkins, Alexander R; Pelletier, Jerry; Foulkes, William D; Rak, Janusz; Huang, Sidong.

J Pathol ; 252(1): 77-87, 2020 09.

Artigo em Inglês | MEDLINE | ID: mdl-32558936

5.

Immunophenotype-Genotype Correlations in Clear Cell Sarcoma of Kidney-An Evaluation of Diagnostic Ancillary Studies.

Kenny, Colin; Grehan, David; Ulas, Mevlut; Banga, Gloria Badi; Coulomb, Aurore; Vokuhl, Christian; O'Sullivan, Maureen J.

Pediatr Dev Pathol ; 23(5): 345-351, 2020.

Artigo em Inglês | MEDLINE | ID: mdl-32364435

6.

Dysregulated mitogen-activated protein kinase signalling as an oncogenic basis for clear cell sarcoma of the kidney.

Kenny, Colin; McDonagh, Naomi; Lazaro, Antonio; O'Meara, Elaine; Klinger, Rut; O'Connor, Darran; Roche, Fiona; Hokamp, Karsten; O'Sullivan, Maureen J.

J Pathol ; 244(3): 334-345, 2018 03.

Artigo em Inglês | MEDLINE | ID: mdl-29243812

7.

Anaplastic sarcomas of the kidney are characterized by DICER1 mutations.

Wu, Mona K; Vujanic, Gordan M; Fahiminiya, Somayyeh; Watanabe, Noriko; Thorner, Paul S; O'Sullivan, Maureen J; Fabian, Marc R; Foulkes, William D.

Mod Pathol ; 31(1): 169-178, 2018 01.

Artigo em Inglês | MEDLINE | ID: mdl-28862265

8.

Mutually exclusive BCOR internal tandem duplications and YWHAE-NUTM2 fusions in clear cell sarcoma of kidney: not the full story.

Kenny, Colin; Bausenwein, Sabrina; Lazaro, Antonio; Furtwängler, Rhoikos; Gooskens, Saskia L M; van den Heuvel Eibrink, Marry; Vokuhl, Christian; Leuschner, Ivo; Graf, Norbert; Gessler, Manfred; O'Sullivan, Maureen J.

J Pathol ; 238(5): 617-20, 2016 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-27000436

9.

The clinical phenotype of YWHAE-NUTM2B/E positive pediatric clear cell sarcoma of the kidney.

Gooskens, Saskia L; Kenny, Colin; Lazaro, Antonio; O'Meara, Elaine; van Tinteren, Harm; Spreafico, Filippo; Vujanic, Gordan; Leuschner, Ivo; Coulomb-L'Herminé, Aurore; Perotti, Daniela; de Camargo, Beatriz; Bergeron, Christophe; Acha García, Tomas; Tanaka, Mio; Pieters, Rob; Pritchard-Jones, Kathy; Graf, Norbert; van den Heuvel-Eibrink, Marry M; O'Sullivan, Maureen J.

Genes Chromosomes Cancer ; 55(2): 143-7, 2016 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-26542179

10.

Modulation of chemotherapeutic drug resistance in neuroblastoma SK-N-AS cells by the neural apoptosis inhibitory protein and miR-520f.

Harvey, Harry; Piskareva, Olga; Creevey, Laura; Alcock, Leah C; Buckley, Patrick G; O'Sullivan, Maureen J; Segura, Miguel F; Gallego, Soledad; Stallings, Raymond L; Bray, Isabella M.

Int J Cancer ; 136(7): 1579-88, 2015 Apr 01.

Artigo em Inglês | MEDLINE | ID: mdl-25137037

11.

A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency.

Alston, Charlotte L; Ceccatelli Berti, Camilla; Blakely, Emma L; Oláhová, Monika; He, Langping; McMahon, Colin J; Olpin, Simon E; Hargreaves, Iain P; Nolli, Cecilia; McFarland, Robert; Goffrini, Paola; O'Sullivan, Maureen J; Taylor, Robert W.

Hum Genet ; 134(8): 869-79, 2015 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-26008905

12.

What Do We Know about the Role of miRNAs in Pediatric Sarcoma?

Kelly, Lorna C; Lázaro, Antonio; O'Sullivan, Maureen J.

Int J Mol Sci ; 16(7): 16593-621, 2015 Jul 22.

Artigo em Inglês | MEDLINE | ID: mdl-26204834

13.

Clear cell sarcoma of the kidney demonstrates an embryonic signature indicative of a primitive nephrogenic origin.

Karlsson, Jenny; Holmquist Mengelbier, Linda; Ciornei, Cristina D; Naranjo, Arlene; O'Sullivan, Maureen J; Gisselsson, David.

Genes Chromosomes Cancer ; 53(5): 381-91, 2014 May.

Artigo em Inglês | MEDLINE | ID: mdl-24488803

14.

Identification of an MLL4-GPS2 fusion as an oncogenic driver of undifferentiated spindle cell sarcoma in a child.

O'Meara, Elaine; Stack, Deirdre; Phelan, Susan; McDonagh, Naomi; Kelly, Lorna; Sciot, Raf; Debiec-Rychter, Maria; Morris, Thomas; Cochrane, Doug; Sorensen, Poul; O'Sullivan, Maureen J.

Genes Chromosomes Cancer ; 53(12): 991-8, 2014 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-25139254

15.

Hallmark discoveries in the biology of Wilms tumour.

Perotti, Daniela; Williams, Richard D; Wegert, Jenny; Brzezinski, Jack; Maschietto, Mariana; Ciceri, Sara; Gisselsson, David; Gadd, Samantha; Walz, Amy L; Furtwaengler, Rhoikos; Drost, Jarno; Al-Saadi, Reem; Evageliou, Nicholas; Gooskens, Saskia L; Hong, Andrew L; Murphy, Andrew J; Ortiz, Michael V; O'Sullivan, Maureen J; Mullen, Elizabeth A; van den Heuvel-Eibrink, Marry M; Fernandez, Conrad V; Graf, Norbert; Grundy, Paul E; Geller, James I; Dome, Jeffrey S; Perlman, Elizabeth J; Gessler, Manfred; Huff, Vicki; Pritchard-Jones, Kathy.

Nat Rev Urol ; 21(3): 158-180, 2024 03.

Artigo em Inglês | MEDLINE | ID: mdl-37848532

16.

SDHA mutations in adult and pediatric wild-type gastrointestinal stromal tumors.

Oudijk, Lindsey; Gaal, José; Korpershoek, Esther; van Nederveen, Francien H; Kelly, Lorna; Schiavon, Gaia; Verweij, Jaap; Mathijssen, Ron H J; den Bakker, Michael A; Oldenburg, Rogier A; van Loon, Rosa L E; O'Sullivan, Maureen J; de Krijger, Ronald R; Dinjens, Winand N M.

Mod Pathol ; 26(3): 456-63, 2013 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-23174939

17.

Characterization of the chromosomal translocation t(10;17)(q22;p13) in clear cell sarcoma of kidney.

O'Meara, Elaine; Stack, Deirdre; Lee, Cheng-Han; Garvin, A Julian; Morris, Thomas; Argani, Pedram; Han, Jeong S; Karlsson, Jenny; Gisselson, David; Leuschner, Ivo; Gessler, Manfred; Graf, Norbert; Fletcher, Jonathan A; O'Sullivan, Maureen J.

J Pathol ; 227(1): 72-80, 2012 May.

Artigo em Inglês | MEDLINE | ID: mdl-22294382

18.

The IG-DMR and the MEG3-DMR at human chromosome 14q32.2: hierarchical interaction and distinct functional properties as imprinting control centers.

Kagami, Masayo; O'Sullivan, Maureen J; Green, Andrew J; Watabe, Yoshiyuki; Arisaka, Osamu; Masawa, Nobuhide; Matsuoka, Kentarou; Fukami, Maki; Matsubara, Keiko; Kato, Fumiko; Ferguson-Smith, Anne C; Ogata, Tsutomu.

PLoS Genet ; 6(6): e1000992, 2010 Jun 17.

Artigo em Inglês | MEDLINE | ID: mdl-20585555

19.

The role of the Nrf2/GSH antioxidant system in cisplatin resistance in malignant rhabdoid tumours.

Hannon Barroeta, Patricia; O'Sullivan, Maureen J; Zisterer, Daniela M.

J Cancer Res Clin Oncol ; 149(11): 8379-8391, 2023 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-37079050

20.

Targeting inhibitor of apoptosis proteins (IAPs) with IAP inhibitors sensitises malignant rhabdoid tumour cells to cisplatin.

Coyle, Rachel; O'Sullivan, Maureen J; Zisterer, Daniela M.

Cancer Treat Res Commun ; 32: 100579, 2022.

Artigo em Inglês | MEDLINE | ID: mdl-35613525

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Instituto Evandro Chagas

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