Results 51 to 60 of about 1,070 (211)

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

Tumour–host interactions in Drosophila: mechanisms in the tumour micro‐ and macroenvironment

Molecular Oncology, EarlyView.
This review examines how tumour–host crosstalk takes place at multiple levels of biological organisation, from local cell competition and immune crosstalk to organism‐wide metabolic and physiological collapse. Here, we integrate findings from Drosophila melanogaster studies that reveal conserved mechanisms through which tumours hijack host systems to ...
José Teles‐Reis, Tor Erik Rusten
wiley   +1 more source

A splice site mutation in hERG leads to cryptic splicing in human long QT syndrome [PDF]

Journal of Molecular and Cellular Cardiology, 2008
Mutations in the human ether-a-go-go-related gene (hERG) cause type 2 long QT syndrome. In this study, we investigated the pathogenic mechanism of the hERG splice site mutation 2398+1G>C and the genotype-phenotype relationship of mutation carriers in three unrelated kindreds with long QT syndrome. The effect of 2398+1G>C on mRNA splicing was studied by
Qiuming, Gong, Li, Zhang, Arthur J, Moss, G Michael, Vincent, Michael J, Ackerman, Jeffrey C, Robinson, Melanie A, Jones, David J, Tester, Zhengfeng, Zhou   +8 more
openaire   +2 more sources

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

Circular RNA expression landscapes in myelodysplastic neoplasms: Associations with mutational signatures and disease progression

Molecular Oncology, EarlyView.
In this explorative study, the abundance of circular RNA molecules in bone marrow stem cells was found to be elevated in patients with high‐risk myelodysplastic neoplasms, and to be associated with an increased risk of progression to acute myeloid leukemia.
Eileen Wedge, Morten Tulstrup, Gabriele Todisco, Pedro Moura, Christophe Côme, Jakob Werner Hansen, Jakob Schmidt Jespersen, Balthasar Schlotmann, Maria Creignou, Mette Dahl, Claudia Schöllkopf, Klas Raaschou‐Jensen, Krister Wennerberg, Bo Porse, Joachim Weischenfeldt, Eva Hellström‐Lindberg, Lasse Sommer Kristensen, Kirsten Grønbæk   +17 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

KDM7A and KDM1A inhibition suppresses tumour promoting pathways in prostate cancer

Molecular Oncology, EarlyView.
Treatment resistance is a major challenge for patients with advanced prostate cancer. This study examined an alternative approach to target the major prostate cancer‐promoting pathway by targeting epigenetic factors, whose levels are higher in tumours.
Jennie N Jeyapalan, Veronika M Metzler, Simone de Brot, Corinne L Woodcock, Anna E Harris, Jennifer Lothion‐Roy, Emeli M Nilsson, Atara Ntekim, Michael S Toss, Jenny L Persson, Francesca Khani, Brian D Robinson, Lorraine J Gudas, Emad Rakha, David M Heery, Catrin S Rutland, Nigel P Mongan   +16 more
wiley   +1 more source

Oncogenic DMTF1β promotes cancer cell motility by regulating autophagy through ULK1 stabilization

Molecular Oncology, EarlyView.
In the current study, we demonstrate that the oncogene DMTF1β regulates ULK1 stability by reducing its proteasomal degradation in cancer cells. This stabilization enables ULK1 to induce autophagy, which in turn facilitates cancer cell migration. Consequently, reduced DMTF1β levels lead to decreased autophagy and impaired cancer cell migration.
Jun Xu, Nicolas J. Niklaus, Anna M. Schläfli, Igor Tokarchuk, Magali Humbert, Federico La Manna, Bich Vu, David Maul, Ramin Radpour, Marianna Kruithof‐de Julio, Inti Zlobec, Jörn Dengjel, Bruce E. Torbett, Mario P. Tschan   +13 more
wiley   +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