Results 101 to 110 of about 117,100 (294)

Comprehensive profiling of cancer neoantigens from aberrant RNA splicing

Journal for ImmunoTherapy of Cancer
Background Cancer neoantigens arise from protein-altering somatic mutations in tumor and rank among the most promising next-generation immuno-oncology agents when used in combination with immune checkpoint inhibitors.
Yi Lin, Yan W Asmann, Barath Shreeder, Keith L Knutson, Erik Jessen, Daniel P Wickland, Colton McNinch, Brian Necela   +7 more
doaj   +1 more source

Large‐scale bidirectional arrayed genetic screens identify OXR1 and EMC4 as modifiers of αSynuclein aggregation

FEBS Open Bio, EarlyView.
Activation of the mitochondrial protein OXR1 increases pSyn129 αSynuclein aggregation by lowering ATP levels and altering mitochondrial membrane potential, particularly in response to MSA‐derived fibrils. In contrast, ablation of the ER protein EMC4 enhances autophagic flux and lysosomal clearance, broadly reducing α‐synuclein aggregates.
Sandesh Neupane, Lea Nikolić, Lorenzo Maraio, Thomas Goiran, Nathan Karpilovsky, Stefano Sellitto, Vangelis Bouris, Jiang‐An Yin, Ronald Melki, Edward A Fon, Adriano Aguzzi, Elena De Cecco   +11 more
wiley   +1 more source

Aging Is a Key Driver for Adult Acute Myeloid Leukemia

Aging and Cancer, EarlyView.
Acute myeloid leukemia (AML) is a classical age‐related hematologic malignancy, and a key driver of AML is aging, which profoundly regulates intrinsic factors such as genomic instability, epigenetic reprogramming, and metabolic dysregulation, and alters bone marrow microenvironment.
Rong Yin, Haojian Zhang
wiley   +1 more source

Mutant NPM1 in Acute Myeloid Leukemia Initiation and Maintenance

Aging and Cancer, EarlyView.
NPM1 mutations drive acute myeloid leukemia by acting as neomorphic transcriptional regulators that cooperate with Menin–MLL and XPO1 to sustain HOX/MEIS1 expression and block differentiation. Targeting these mutant‐specific transcriptional dependencies provides a rational therapeutic strategy for NPM1‐mutated AML.
Yanan Jiang, Zhong Fan, Runmeng Liu, Xiaotian Zhang   +3 more
wiley   +1 more source

Effectiveness of integrated interpretation of exome and corresponding transcriptome data for detecting splicing variants of genes associated with autosomal recessive disorders

Molecular Genetics and Metabolism Reports, 2019
Purpose: Part of the weakness of exome analysis lies in the inability to detect aberrant splicing. An evaluation of the post-splicing mRNA sequence concurrently with genomic variants could improve the diagnostic rate.
Mamiko Yamada, Hisato Suzuki, Yuichi Shiraishi, Kenjiro Kosaki   +3 more
doaj   +1 more source

Meiotic progression in arabidopsis is governed by complex regulatory interactions between SMG7, TDM1, and the meiosis I-specific cyclin TAM [PDF]

, 2010
International audienceMeiosis is a modified cell division that produces four haploid nuclei from a single diploid cell in two rounds of chromosome segregation.
Bulankova, Petra, Riehs-Kearnan, Nina, Nowack, Moritz, Schnittger, Arp, Riha, Karel   +4 more
core   +3 more sources

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte, Lucy Norcliffe‐Kaufmann, Maria Luisa Cotrina, Zenith Khan, Kaia Dalamo, Patricio Millar Vernetti, Matthew Lawless, Elisabetta Morini, Monica Salani, Marla Weetall, Jana Narasimhan, Agostino G. Rocha, Susan A. Slaugenhaupt, Horacio Kaufmann   +13 more
wiley   +1 more source

TIN: An R Package for Transcriptome Instability Analysis

Cancer Informatics, 2015
Alternative splicing is a key regulatory mechanism for gene expression, vital for the proper functioning of eukaryotic cells. Disruption of normal pre-mRNA splicing has the potential to cause and reinforce human disease.
Bjarne Johannessen, Anita Sveen, Rolf I. Skotheim   +2 more
doaj   +1 more source

Aberrant splicing of U12-type introns is the hallmark of ZRSR2 mutant myelodysplastic syndrome. [PDF]

, 2015
Somatic mutations in the spliceosome gene ZRSR2-located on the X chromosome-are associated with myelodysplastic syndrome (MDS). ZRSR2 is involved in the recognition of 3'-splice site during the early stages of spliceosome assembly; however, its precise ...
Ganser, Arnold, Grossmann, Vera, Haferlach, Torsten, Kanojia, Deepika, Koeffler, H Phillip, Kohlmann, Alexander, Li, Jia, Madan, Vikas, Miyano, Satoru, Ogawa, Seishi, Okamoto, Ryoko, Sanada, Masashi, Sato-Otsubo, Aiko, Shiraishi, Yuichi, Sundaresan, Janani, Thol, Felicitas, Yang, Henry   +16 more
core   +2 more sources

Neuronal impact of patient-specific aberrant NRXN1α splicing

Nature Genetics, 2019
NRXN1 undergoes extensive alternative splicing, and non-recurrent heterozygous deletions in NRXN1 are strongly associated with neuropsychiatric disorders. We establish that human induced pluripotent stem cell (hiPSC)-derived neurons well represent the diversity of NRXN1α alternative splicing observed in the human brain, cataloguing 123 high-confidence ...
Erin Flaherty, Shijia Zhu, Natalie Barretto, Esther Cheng, P. J. Michael Deans, Michael B. Fernando, Nadine Schrode, Nancy Francoeur, Alesia Antoine, Khaled Alganem, Madeline Halpern, Gintaras Deikus, Hardik Shah, Megan Fitzgerald, Ian Ladran, Peter Gochman, Judith Rapoport, Nadejda M. Tsankova, Robert McCullumsmith, Gabriel E. Hoffman, Robert Sebra, Gang Fang, Kristen J. Brennand   +22 more
openaire   +3 more sources