Results 131 to 140 of about 6,146,275 (314)

Combining tumor genome simulation with crowdsourcing to benchmark somatic single-nucleotide-variant detection

Nature Methods, 2015
The detection of somatic mutations from cancer genome sequences is key to understanding the genetic basis of disease progression, patient survival and response to therapy. Benchmarking is needed for tool assessment and improvement but is complicated by a
A. Ewing, Kathleen E. Houlahan, Yin Hu, Kyle Ellrott, Cristian Caloian, T. Yamaguchi, J. Christopher Bare, Christine P'ng, D. Waggott, Veronica Sabelnykova, M. Kellen, T. Norman, D. Haussler, S. Friend, G. Stolovitzky, A. Margolin, Joshua M. Stuart, P. Boutros   +17 more
semanticscholar   +1 more source

Somatostatin receptor 4 (SSTR4) is a tumor suppressor in cutaneous and head & neck squamous cell carcinomas

Molecular Oncology, EarlyView.
This study identifies somatostatin receptor 4 (Sstr4) as a critical tumor suppressor against skin and head/neck cancers (HNSCC, cSCC, and BCC). The loss of Sstr4 removes a check on cell growth, causing hyperactivation of the MAPK‐ERK signaling pathway (↑).
Ali Taqvi, Tuan Khang Huynh, Adway Kadam, Zahra Kardan, Yue Yan, Amina Jamal Laham, Sampath Kumar Loganathan   +6 more
wiley   +1 more source

Impact of BCR::ABL1 single nucleotide variants on asciminib efficacy

Leukemia
AbstractAsciminib is a potent and selective inhibitor of BCR::ABL1, with potential to avoid toxicity resulting from off-target kinase inhibition. Forty-nine patients treated with asciminib under a managed access program in the UK were evaluated for toxicity and response. Intolerance, rather than resistance (65% vs.
Andrew J. Innes, Chloe Hayden, Victoria Orovboni, Simone Claudiani, Fiona Fernando, Afzal Khan, David Rees, Jennifer Byrne, Paolo Gallipoli, Sebastian Francis, Mhairi Copland, Gillian Horne, Manoj Raghavan, Claire Arnold, Angela Collins, Tanya Cranfield, Nicholas Cunningham, Akila Danga, Peter Forsyth, Rebecca Frewin, Paula Garland, Guy Hannah, Daniele Avenoso, Sandra Hassan, Brian J. P. Huntly, Jissan Husain, Sudhakaran Makkuni, Kate Rothwell, Jamshid Khorashad, Jane F. Apperley, Dragana Milojkovic   +30 more
openaire   +2 more sources

Paclitaxel induces NM2‐dependent cellular contraction through GEF‐H1 dissociation from microtubules and RhoA/ROCK activation in cancer cells

Molecular Oncology, EarlyView.
Taxanes are widely used chemotherapeutics whose effects on cellular mechanics remain poorly understood. We show that paclitaxel induces rapid cellular contraction by promoting GEF‐H1 dissociation from microtubules and non‐muscle myosin II activation through RhoA/ROCK.
Gloria Asensio‐Juárez, Rafael Pérez‐Díaz, Hugo Ramos‐Solano, Marina Garrido‐Casado, Vanessa C. Talayero, Miguel Vicente‐Manzanares   +5 more
wiley   +1 more source

Associations of single nucleotide polymorphisms with mucinous colorectal cancer: genome-wide common variant and gene-based rare variant analyses

Biomarker Research, 2018
Background Colorectal cancer has significant impact on individuals and healthcare systems. Many genes have been identified to influence its pathogenesis.
Michelle E. Penney, Patrick S. Parfrey, Sevtap Savas, Yildiz E. Yilmaz   +3 more
doaj   +1 more source

PAM-Independent CRISPR-Cas12a System for Specific Assays of Single Nucleotide Variants

JACS Au
The CRISPR-Cas12a system has been extensively utilized in nucleic acid detection owing to its remarkable sensitivity and specificity. Nonetheless, its strict dependency on the presence of a protospacer adjacent motif (PAM) within double-stranded DNA ...
Jinlong Ai, Jinhai Deng, Jingjing Hu, X. Pu, Tongyan Yuan, Yuling Teng, Han Li, Bojie Chen, Jinlian Du, Ling Jiang, Xiaoyan Chen, Erhu Xiong, Ronghua Yang   +12 more
semanticscholar   +1 more source

APOBEC3 activity and DNA polymerase‐ε deficiency are associated with distinct IDH1 R132 hotspot mutations

Molecular Oncology, EarlyView.
Isocitrate dehydrogenase 1 (IDH1) mutations are highly recurrent in multiple human cancer types, including cholangiocarcinoma and glioma. IDH1 R132C is the most common IDH1 mutation in cholangiocarcinoma and likely arises from APOBEC3A‐ or APOBEC3B‐mediated deamination.
Kelly E. Butler, Bilal A. Lone, Ecem Unal, A. Rouf Banday   +3 more
wiley   +1 more source

Spatial heterogeneity of hotspot mutations and clonal relatedness in ovarian endometrioid carcinoma

Molecular Oncology, EarlyView.
Spatially resolved analysis revealed heterogeneous distributions of selected cancer‐associated mutations within ovarian endometrioid carcinomas. Shared mutations between paired endometrial and ovarian tumors supported clonal relatedness. These findings highlight the value of sampling multiple tumor regions when interpreting molecular profiles ...
Takahito Ashihara, Kosuke Murakami, Shiro Takamatsu, Akiko Kanto, Seiichi Mori, Tomoyuki Otani, Kazuko Sakai, Yasushi Kotani, Kazuto Nishio, Kaoru Abiko, Noriomi Matsumura   +10 more
wiley   +1 more source

DVA: predicting the functional impact of single nucleotide missense variants

BMC Bioinformatics
Abstract Background In the past decade, single nucleotide variants (SNVs) have been identified as having a significant relationship with the development and treatment of diseases. Among them, prioritizing missense variants for further functional impact investigation is an essential challenge in the study of common ...
Dong Wang 0066, Jie Li 0055, Edwin Wang, Yadong Wang 0001   +3 more
openaire   +3 more sources

Small RNA pathways in mammalian oocytes

FEBS Open Bio, EarlyView.
Three distinct small RNA pathways operate in mammalian oocytes: RNAi interference (RNAi), the microRNA (miRNA) pathway, and the PIWI‐associated RNA (piRNA) pathway. These pathways use small RNAs to guide sequence‐specific repression and contribute to oocyte biology by targeting genes and mobile elements or appear insignificant since different ...
Petr Svoboda, Josef Pasulka
wiley   +1 more source