Results 101 to 110 of about 277,677 (243)

Comparison of TCGA and GENIE genomic datasets for the detection of clinically actionable alterations in breast cancer. [PDF]

, 2019
Whole exome sequencing (WES), targeted gene panel sequencing and single nucleotide polymorphism (SNP) arrays are increasingly used for the identification of actionable alterations that are critical to cancer care.
Carpten, John D, Kaur, Pushpinder, Lang, Julie E, Porras, Tania B, Ring, Alexander   +4 more
core   +3 more sources

pCRM1exportome: database of predicted CRM1-dependent Nuclear Export Signal (NES) motifs in cancer-related genes

Bioinform., 2019
MOTIVATION The consensus pattern of Nuclear Export Signal (NES) is a short sequence motif that is commonly identified in protein sequences, whether the motif acts as an NES (true positive) or not (false positive).
Yoonji Lee, J. Baumhardt, Jimin Pei, Y. Chook, N. Grishin   +4 more
semanticscholar   +1 more source

Low Input Whole-Exome Sequencing to Determine the Representation of the Tumor Exome in Circulating DNA of Non-Small Cell Lung Cancer Patients. [PDF]

PLoS ONE, 2016
Circulating cell-free DNA (cfDNA) released from cancerous tissues has been found to harbor tumor-associated alterations and to represent the molecular composition of the tumor.
Steffen Dietz, Uwe Schirmer, Clémentine Mercé, Nikolas von Bubnoff, Edgar Dahl, Michael Meister, Thomas Muley, Michael Thomas, Holger Sültmann   +8 more
doaj   +1 more source

Clinical Insights Into Nabais Sá‐De Vries Syndrome due to a Novel SPOP Mutation: Neuromotor, Cognitive, Adaptive, Behavioral, and Neurovisual Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nabais Sá‐De Vries syndrome (NSDVS) is an extremely rare autosomal dominant disorder caused by SPOP mutations. To date, only 10 cases have been described presenting with intellectual disability, neurological signs and symptoms, and a variable association of dysmorphic features.
Jessica Galli, Erika Loi, Federica Zanardini, Giovanna Baldoni, Francesca Novara, Serena Panigada, Roberto Ciccone, Maria Rosa Cutrì, Alice Bertoletti, Lorenzo Pinelli, Elisa Fazzi   +10 more
wiley   +1 more source

Somatic Evolution Introduces Distinctive Changes in Proteome Composition in Cancer Types [PDF]

, 2018
On the proteome level, somatic evolution in cancer is asymmetric, with several amino acids being irreversibly lost and the others gained across cancer types.
Tsuber, V. Yu., Цубер, Виктория Юрьевна, Цубер, Вікторія Юріївна   +2 more
core   +1 more source

Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications

Bioinform., 2016
UNLABELLED : We describe Manta, a method to discover structural variants and indels from next generation sequencing data. Manta is optimized for rapid germline and somatic analysis, calling structural variants, medium-sized indels and large insertions on
Xiaoyu Chen, Ole Schulz-Trieglaff, Richard Shaw, B. Barnes, F. Schlesinger, Morten Källberg, A. Cox, S. Kruglyak, C. T. Saunders   +8 more
semanticscholar   +1 more source

Cohesins: Crossroad Between Cornelia de Lange Spectrum and Cancer Predisposition

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The cohesin complex plays crucial roles in DNA repair, chromatid separation, and gene transcription regulation. Pathogenic variants in cohesins or dysfunctional transcriptional regulators lead to cohesinopathies, a broader group of disorders including Cornelia de Lange Spectrum (CdLSp), for which the prevalence of cancer cases remains unclear.
Laura Rigotti, Stefano Rebellato, Antonella Lettieri, Silvia Castiglioni, Milena Mariani, Simona Totaro, Claudia Saitta, Cristina Gervasini, Grazia Fazio, Valentina Massa, Giovanni Cazzaniga, Angelo Selicorni   +11 more
wiley   +1 more source

Atmospheric Consequences of Cosmic Ray Variability in the Extragalactic Shock Model II: Revised ionization levels and their consequences

, 2010
It has been suggested that galactic shock asymmetry induced by our galaxy's infall toward the Virgo Cluster may be a source of periodicity in cosmic ray exposure as the solar system oscillates perpendicular to the galactic plane.
Adrian L. Melott, Aguirre, Alpen, Atri, Bancroft, Binney, Björn, Blaustein, Boucher, Brian C. Thomas, Cornette, Davidson, Dimitra Atri, Djemil, Ejzak, Foukal, Gehrels, Gies, Graham W. Wilson, Harfoot, Hatch, Häder, Jagger, Juckett, Juckett, Kiesecker, Lieberman, Lockwood, Madronich, McCallum, Medvedev, Melott, Melott, Melott, Melott, Melott, Michael J. Murray, Mikhail V. Medvedev, Natarajan, Overholt, Pukkala, Rohde, Ruderman, Scherer, Shaffer, Solanki, Svensmark, Tevini, Thomas, Thomas, Thomas   +50 more
core   +1 more source

Mutational signatures in tumours induced by high and low energy radiation in Trp53 deficient mice. [PDF]

, 2020
Ionising radiation (IR) is a recognised carcinogen responsible for cancer development in patients previously treated using radiotherapy, and in individuals exposed as a result of accidents at nuclear energy plants.
Adams, Cassandra J, Adams, David, Alexandrov, Ludmil B, Balmain, Allan, Del Rosario, Reyno, Fredlund, Erik, Halliwill, Kyle D, Hirst, Gillian, Iyer, Vivek, Jen, Kuang-Yu, Mamunur, Rashid, Riva, Laura, Rose Li, Yun   +12 more
core   +1 more source

Complex-based analysis of dysregulated cellular processes in cancer [PDF]

, 2014
Background: Differential expression analysis of (individual) genes is often used to study their roles in diseases. However, diseases such as cancer are a result of the combined effect of multiple genes.
Khanna, Kum Kum, Liu, Chao, Madhamshettiwar, Piyush B., Ragan, Mark A., Simpson, Peter T., Song, Sarah, Srihari, Sriganesh   +6 more
core   +1 more source