Results 51 to 60 of about 91,518 (258)

PANoptosis in the pathogenesis of myelodysplastic syndromes

Molecular Oncology, EarlyView.
PANoptosis, a combination of three types of programmed cell death, is mediated by a large protein complex called a PANoptosome. In healthy bone marrow hematopoietic cells, PANoptosis is restricted by inhibitory signaling. In MDS, bone marrow cells become sensitive to the PANoptotic stimuli due to the aberrant inactivation of inhibitory signaling or ...
Rohit Thalla, Jyoti Lamichhane, Cameron Lewis, Peter Breslin, Jiwang Zhang   +4 more
wiley   +1 more source

Splice-site mutations in POU2AF1 are associated with B-cell lymphomagenesis and therapeutic response

Scientific Reports
BOB.1, encoded by POU2AF1, is one of many factors regulating physiological B-cell maturation in the germinal center. Recently, several studies have described recurrent mutations in a three-nucleotide region in the POU2AF1 splice site in the two most ...
Natalia Yanguas-Casás, Lucía Pedrosa, Beatriz Horcajo, Sagrario Gómez, Aranzazu Garcia-Grande, Rafael Muñoz-Viana, Ismael Fernández-Miranda, Marina Pérez-Aguilera, Raúl Torres-Ruiz, Sandra Rodríguez-Perales, Margarita Sánchez-Beato   +10 more
doaj   +1 more source

Functional study of a novel RHD variant IVS4+2delT leading to RhD-negative phenotype

Zhongguo shuxue zazhi
[Objective] To investigate the effect of a novel RHD genotype (RHD∗01N.01/RHD∗01.01 with IVS4+ 2delT mutation)on the RhD phenotype through in vitro experiments in a case with a serologically RhD-negative phenotype.
HAO Xiao, LI Ruirui, ZHANG Lu, YANG Yongchun   +3 more
doaj   +1 more source

Elimination of mRNA splicing by a point mutation outside the conserved GU at 5′ splice sites [PDF]

Nucleic Acids Research, 1984
Nearly all mRNA introns begin with the dinucleotide GU. Mutations in either of these virtually invariant bases have been found to inactivate the corresponding 5' splice site. Until now single base changes in neighboring bases have not been found to completely inactivate a 5' splice site.
C, Montell, A J, Berk
openaire   +2 more sources

Intrapatient tumour heterogeneity and clonal evolution in an autopsy study of metastatic salivary gland cancer

Molecular Oncology, EarlyView.
Tumour heterogeneity and clonal evolution of metastatic salivary gland cancer were evaluated in two patients with adenoid carcinoma and one patient with myoepithelial carcinoma. Radiology‐guided autopsy enabled multi‐region sampling (total samples n = 149), followed by whole‐genome sequencing and phylogenetic reconstruction (17 tumour samples, 4–7 per ...
Gerben Lassche, Niels J. van Ruitenbeek, Charlotte Adang, Luke O'Gorman, Pui Yuen Lee, Willemijn M. Klein, Adriana C. H. van Engen‐van Grunsven, Jack A. Schalken, Sander Bervoets, Gerald W. Verhaegh, Carla M. L. van Herpen   +10 more
wiley   +1 more source

Arginine methylation as a regulatory ratchet in cancer: From substrate selection to malignant‐state stabilization

Molecular Oncology, EarlyView.
Arginine methylation can be viewed as a persistence‐prone post‐translational modification regulated by a network of PRMTs. Competitive and compensatory interactions among PRMTs can redistribute methylation across substrate pools shaped by sequence, structural, spatial, and environmental layers, reinforcing RNA‐processing, chromatin, and signaling ...
So Hyun Kwon, Ji Min Lee
wiley   +1 more source

Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome. [PDF]

PLoS ONE, 2012
BACKGROUND: Dravet syndrome is a severe form of epilepsy. Majority of patients have a mutation in SCN1A gene, which encodes a voltage-gated sodium channel. A recent study has demonstrated that 16% of SCN1A-negative patients have a mutation in PCDH19, the
Anna Ka-Yee Kwong, Cheuk-Wing Fung, Siu-Yuen Chan, Virginia Chun-Nei Wong   +3 more
doaj   +1 more source

SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles [PDF]

Neurology, 2015
To identify the genetic etiology and characterize the clinicopathologic features of a novel distal myopathy.We performed whole-exome sequencing on a family with an autosomal dominant distal myopathy and targeted exome sequencing in 1 patient with sporadic distal myopathy, both with rimmed vacuolar pathology.
Bucelli, RC, Arhzaouy, K, Pestronk, A, Pittman, SK, Rojas, L, Sue, CM, Evilä A, Hackman, P, Udd, B, Harms, MB, Weihl, CC   +10 more
openaire   +3 more sources

Mechanisms and therapeutic opportunities of the ribotoxic stress response in cancer

Molecular Oncology, EarlyView.
Cancer cells' high translational demand creates opportunities to therapeutically target ribosome function. Ribosome stalling and collisions activate ZAKα and the ribotoxic stress response (RSR), which can trigger rapid, p53‐independent apoptosis in cancer.
Anastassiya Kim, Maryam Aslam, Elouise Torruella, Alphons Sony, Asif Rahman, Simira Smith, Columba de la Parra, Moira Sauane   +7 more
wiley   +1 more source

Combining Engineered U1 snRNA and Antisense Oligonucleotides to Improve the Treatment of a BBS1 Splice Site Mutation

Molecular Therapy: Nucleic Acids, 2019
Manipulation of pre-mRNA processing is a promising approach toward overcoming disease-causing mutations and treating human diseases. We show that a combined treatment applying two splice-manipulating technologies improves therapeutic efficacies to ...
Saskia Breuel, Mariann Vorm, Anja U. Bräuer, Marta Owczarek-Lipska, John Neidhardt   +4 more
doaj   +1 more source