Results 51 to 60 of about 148,275 (313)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

The polo-like kinase 1 (PLK1) inhibitor NMS-P937 is effective in a new model of disseminated primary CD56+ acute monoblastic leukaemia [PDF]

, 2013
CD56 is expressed in 15–20% of acute myeloid leukaemias (AML) and is associated with extramedullary diffusion, multidrug resistance and poor prognosis.
A Blair, A Cesano, A Vilas-Zornoza, AG Renner, Alessandro Rambaldi, Alessia Casolaro, Alice Pezzoni, B Löwenberg, B Valsasina, Barbara Valsasina, C McInnes, Clara Albanese, D Raspadori, E Di Bona, E Estey, E Radaelli, EM Lee, Enrico Pesenti, F Ravandi, FR Appelbaum, Francesco Bertolini, Francesco Marchesi, G Tsykunova, Gemma Texido, Gianni Cazzaniga, H Chang, I Beria, J Delgado, J Golay, J Suela, J Zuber, Josee Golay, JR Novontny, JW Rocco, K Strebhardt, M Bardini, Marco Losa, Martino Introna, MJ Walter, MR Baer, Nadia Amboldi, PA Greif, R Giavazzi, Rachele Alzani, Roberta Ceruti, S Gattenloehner, Sabrina Cribioli, Silvia Bungaro, T Berg, T Ikezoe, T Lapidot, TJ Ley, U Cucchi, Ursula Giussani, Veronica Patton, Z Li   +55 more
core   +6 more sources

Molecular cytogenetic characterisation of Salix viminalis L. using repetitive DNA sequences [PDF]

, 2013
Salix viminalis L. (2n=38) is a diploid dicot species belonging to the Salix genus of the Salicaceae family. This short-rotation woody crop is one of the most important renewable bioenergy resources worldwide.
Dudits, Dénes, Linc, Gabriella, Láng Molnár, Márta, Németh, Anna Viktória   +3 more
core   +1 more source

BCR::ABL1‐Induced Enhancer Reprogramming Uncovers Hypersensitivity of Ph+B‐ALL Cells to Enhancer‐Targeting Drugs

Advanced Science, EarlyView.
Ng et al. show that the BCR::ABL1 kinase that drives the lymphoid leukemia Ph+B‐ALL modulates enhancer function by coopting signaling‐inducible transcription factors such as MYC, STAT5, and ETV5. BCR::ABL1 thereby promotes the transcriptional program driving and defining this leukemia and renders Ph+B‐ALL cells hypersensitive to enhancer‐inhibiting ...
Han Leng Ng, Trudy Lee Glaser, Jintao Zhu, Mark E. Robinson, Kadriye N. Cosgun, Valeriya Malysheva, Ozgen Deniz, Nicholas T. Crump, Kaiyue Helian, Andrew J. Innes, Richard Burt, Li Sun, George John, Haibin Zhou, Atsunori Kaneshige, Longchuan Bai, Shaomeng Wang, Mikhail Spivakov, Markus Müschen, Niklas Feldhahn   +19 more
wiley   +1 more source

ZSL Orchestrates Synaptonemal Complex Assembly as a Central Region Scaffold to Ensure Synapsis Fidelity and Crossover Control in Polyploid Meiosis

Advanced Science, EarlyView.
A central molecular adaptor, ZSL, is identified that links transverse filaments ZYP1 to central element SCEP1/2 to drive synaptonemal complex assembly in Brassica napus. Loss of ZSL abolishes synaptonemal complex formation, disrupts meiotic chromosome segregation, and markedly increases crossovers, providing mechanistic insight into meiotic fidelity ...
Miaowei Geng, Shaochen Jia, Fei Cao, Cuiping Liu, Heshuang Zhang, Gang Xu, Jixin Zhuang, Yashi Zhang, Can Liu, Yuhang Zhao, Zilin Guo, Xinjie Yuan, Jiaqing Yang, Lei Chu, Bowei Cai, Hu Zhao, Chao Yang   +16 more
wiley   +1 more source

Comparison of established and emerging biodosimetry assays [PDF]

, 2013
Rapid biodosimetry tools are required to assist with triage in the case of a large-scale radiation incident. Here, we aimed to determine the dose-assessment accuracy of the well-established dicentric chromosome assay (DCA) and cytokinesis-block ...
Abend, M, Badie, C, Balagurunathan, Y, Barnard, S, Beinke, C, Bernard, N, Boulay-Greene, H, Braselmann, H, Brengues, M, De Amicis, A, De Sanctis, S, Greither, R, Herodin, F, Jones, A, Kabacik, S, Knie, T, Kulka, U, Lista, F, Martigne, P, Meineke, V, Missel, A, Moquet, J, Oestreicher, U, Peinnequin, A, Poyot, T, Roessler, U, Romm, H, Rothkamm, K, Scherthan, H, Terbrueggen, B, Thierens, Hubert, Valente, M, Vral, Anne, Zenhausern, F   +33 more
core   +2 more sources

Telomere dysfunction accurately predicts clinical outcome in chronic lymphocytic leukaemia, even in patients with early stage disease [PDF]

, 2014
© 2014 John Wiley & Sons Ltd. Defining the prognosis of individual cancer sufferers remains a significant clinical challenge. Here we assessed the ability of high-resolution single telomere length analysis (STELA), combined with an experimentally ...
Allan, James M., Allsup, David J., Bailey, James, Baird, Duncan M., Britt-Compton, Bethan, Cawkwell, Lynn, Fegan, Chris, Grimstead, Julia W., Heppel, Nicole H., Hills, Robert, Jones, Rhiannon E., Lin, Thet Thet, Norris, Kevin, Pepper, Chris, Pratt, Guy   +14 more
core   +1 more source

Clinical, Genetic, and Pathologic Variability in Myelodysplastic Syndromes and Precursor Conditions Across Race, Ethnicity, and Sex

American Journal of Hematology, EarlyView.
ABSTRACT The epidemiology of myelodysplastic syndromes/neoplasms (MDS) is challenging to define due to inconsistent reporting, complex diagnostic procedures, and evolving diagnostic criteria. Using the National MDS Natural History Study—a prospective cohort with centrally adjudicated histopathology and genetic variant review—we characterized the ...
Nancy Gillis, Christelle Colin‐Leitzinger, Yi‐Han Tang, Michael Otterstatter, Seth Sherman, Ling Zhang, Lynn C. Moscinski, Mary Ellen Walker, Jeffrey S. Painter, Gregory A. Abel, Tareq Al Baghdadi, H. Joachim Deeg, James M. Foran, Steven D. Gore, Alexandra M. Harrington, Steven H. Kroft, Jane Jijun Liu, Wael Saber, Shamsuddin Virani, Rafael Bejar, R. Coleman Lindsley, Eric Padron, Matthew J. Walter, Rami Komrokji, Amy E. DeZern, Mikkael A. Sekeres   +25 more
wiley   +1 more source

Navigating the Post‐BCMA/GPRC5D Landscape: Efficacy of Selinexor, Bortezomib, and Dexamethasone After Sequential Immunotherapy Failure in Penta‐Refractory Multiple Myeloma—A Multicenter Analysis

American Journal of Hematology, EarlyView.
ABSTRACT Patients with relapsed/refractory multiple myeloma (RRMM) who are penta‐drug refractory, defined as resistant to two proteasome inhibitors, two immunomodulatory agents, and an anti‐CD38 monoclonal antibody, face a dismal prognosis, particularly after exposure to T‐cell–redirecting therapies.
Maximilian Al‐Bazaz, Winfried Alsdorf, Lisa Leypoldt, Piet Sonnemann, Christoph Schaefers, Jule Artzenroth, Marie Harzer, Abdulaziz Kamili, Leandra Bartke, Leon Cords, Jan Vorwerk, Theo Leitner, Markus Maulhardt, Kerstin Brinkert, Annamaria Brioli, Tim Richardson, Udo Holtick, Stefan M. Hillmann, Hans Salwender, Cyrus Khandanpour, Carsten Bokemeyer, Katja Weisel, Ricardo Kosch   +22 more
wiley   +1 more source

Down Syndrome due to de Novo Robertsonian Translocation Rob(21;21) in Mali

Clinical Case Reports
Down syndrome (DS) is the most common chromosomal disorder among live births, most frequently resulting from free trisomy 21. Robertsonian translocations, which arise from the fusion of acrocentric chromosomes, represent a rare but clinically significant
Christine Ongoiba, Oumar Samassekou, Oumou Traoré, Cheick O. Sidibé, Modibo K. Goita, Guida Landouré, Mahamadou Traoré   +6 more
doaj   +1 more source