Results 71 to 80 of about 117,100 (294)

Cyclin D1: polymorphism, aberrant splicing and cancer risk [PDF]

Oncogene, 2006
The cyclin D1 proto-oncogene exercises powerful control over the mechanisms that regulate the mitotic cell cycle, and excessive cyclin D1 expression and/or activity is common in human cancers. Although somatic mutations of the cyclin D1 locus are rarely observed, mounting evidence demonstrates that a specific polymorphism of cyclin D1 (G/A870) and a ...
K E, Knudsen, J Alan, Diehl, C A, Haiman, E S, Knudsen   +3 more
openaire   +2 more sources

Valosin‐containing protein counteracts ATP‐driven dissolution of FUS condensates through its ATPase activity in vitro

FEBS Letters, EarlyView.
Biomolecular condensates formed by fused in sarcoma (FUS) are dissolved by high ATP concentrations yet persist in cells. Using a reconstituted system, we demonstrate that valosin‐containing protein (VCP), an AAA+ ATPase, counteracts ATP‐driven dissolution of FUS condensates through its D2 ATPase activity.
Hitomi Kimura, Shin‐ichi Tate, Kyota Yasuda   +2 more
wiley   +1 more source

Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approach

Genome Medicine
Background RNA sequencing (RNA-seq) is increasingly being used as a complementary tool to DNA sequencing in diagnostics where DNA analysis has been uninformative.
Carolina Jaramillo Oquendo, Htoo A. Wai, Wil I. Rich, David J. Bunyan, N. Simon Thomas, David Hunt, Jenny Lord, Andrew G. L. Douglas, Diana Baralle   +8 more
doaj   +1 more source

Tumor-promoting effect and tumor immunity of SRSFs

Frontiers in Cell and Developmental Biology
Serine/arginine-rich splicing factors (SRSFs) are a family of 12 RNA-binding proteins crucial for the precursor messenger RNA (pre-mRNA) splicing. SRSFs are involved in RNA metabolism events such as transcription, translation, and nonsense decay during ...
Shuai Zhang, Shuai Zhang, Shuai Zhang, Yongxi Zhang, Sijia Feng, Miaomiao Han, Zixi Wang, Dan Qiao, Jiaqi Tian, Lan Wang, Baoshun Du, Zheying Zhang, Jiateng Zhong, Jiateng Zhong, Jiateng Zhong, Jiateng Zhong   +15 more
doaj   +1 more source

Loss of muscleblind-like 1 results in cardiac pathology and persistence of embryonic splice isoforms. [PDF]

, 2015
Cardiac dysfunction is a prominent cause of mortality in myotonic dystrophy I (DM1), a disease where expanded CUG repeats bind and disable the muscleblind-like family of splice regulators.
Choi, Jongkyu, Comai, Lucio, Dixon, Donald M, El-Ghazali, Ayea, Fishbein, Michael C, Jordan, Maria C, Park, Sun Young, Reddy, Sita, Roos, Kenneth P   +8 more
core  

ps2, the gene responsible for functional sterility in tomato, due to non-dehiscent anthers, is the result of a mutation in a novel polygalacturonase gene [PDF]

, 2009
The recessive mutation ps-2, which appeared spontaneously in tomato, confers functional male sterility due to non-dehiscent anthers. In this study, we isolated and characterized the PS-2 gene.
Gorguet, B.J.M., Heusden, A.W., van, Lammeren, A.A.M., van, Schipper, E.H., Visser, R.G.F.   +4 more
core   +2 more sources

Transcriptional network analysis of PTEN‐protein‐deficient prostate tumors reveals robust stromal reprogramming and signs of senescent paracrine communication

Molecular Oncology, EarlyView.
Combining PTEN protein assessment and transcriptomic profiling of prostate tumors, we uncovered a network enriched in senescence and extracellular matrix (ECM) programs associated with PTEN loss and conserved in a mouse model. We show that PTEN‐deficient cells trigger paracrine remodeling of the surrounding stroma and this information could help ...
Ivana Rondon‐Lorefice, Jose I. Lopez, Aitziber Ugalde‐Olano, Maite Zufiaurre, Ianire Astobiza, Natalia Martin‐Martin, Laura Bozal‐Basterra, Saioa Garcia‐Longarte, Amaia Zabala‐Letona, Sofia Rey, Aida Santos‐Martin, Miguel Unda, Ana Loizaga‐Iriarte, Mariona Graupera, Paolo Nuciforo, Arkaitz Carracedo, Isabel Mendizabal   +16 more
wiley   +1 more source

Premature polyadenylation-mediated loss of stathmin-2 is a hallmark of TDP-43-dependent neurodegeneration. [PDF]

, 2019
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are associated with loss of nuclear transactive response DNA-binding protein 43 (TDP-43).
Artates, Jon W, Baughn, Michael W, Beccari, Melinda S, Bennett, C Frank, Cleveland, Don W, Da Cruz, Sandrine, Drenner, Kevin, Freyermuth, Fernande, Lagier-Tourenne, Clotilde, Lin, Nianwei, López-Erauskin, Jone, McMahon, Moira A, Melamed, Ze'ev, Ohkubo, Takuya, Ravits, John, Rigo, Frank, Rodriguez, Maria, Sun, Ying, Wu, Dongmei, Zhang, Ouyang   +19 more
core  

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

The aberrant splicing of BAF45d links splicing regulation and transcription in glioblastoma [PDF]

Neuro-Oncology, 2018
Glioblastoma, the most aggressive primary brain tumor, is genetically heterogeneous. Alternative splicing (AS) plays a key role in numerous pathologies, including cancer. The objectives of our study were to determine whether aberrant AS could play a role in the malignant phenotype of glioma and to understand the mechanism underlying its aberrant ...
Aldave G, Gonzalez-Huarriz M, Rubio A, Romero JP, Ravi D, Minana B, Cuadrado-Tejedor M, Garcia-Osta A, Verhaak R, Xipell E, Martinez-Velez N, de la Rocha AA, Puigdelloses M, Garcia-Moure M, Marigil M, Perez-Larraya JG, Marin-Bejar O, Huarte M, CARRO M, Ferrarese R, Belda-Iniesta C, Ayuso A, Prat-Acin R, Pastor F, Diez-Valle R, Tejada S, Alonso MM   +26 more
openaire   +4 more sources