The multiple facets of the SMC1A gene.
The multiple facets of the SMC1A gene. Gene. 2020 Mar 25;:144612 Authors: Musio A Abstract Structural Maintenance of Chromosomes (SMCs) are part of a large family of ring complexes that participates in a number of DNA transactions. Among SMCs, SMC1A gene is unique. It encodes a subunit of the cohesin-core complex that tethers sister chromatids together to ensure correct chromosome segregation in both mitosis and meiosis. As a member of the cohesin ring, SMC1A takes part in gene transcription regulation and genome organization; and it participates in the DNA Damage Repair (DDR) pathway, being phosphorylated by Ataxia Telangiectasia Mutated (ATM) and Ataxia Telangiectasia and Rad3 Related (ATR) threonine/serine kinases. It is also a component of the Recombination protein complex (RC-1) involved in DNA repair by recombination. SMC1A pathogenic variants have been described in Cornelia de Lange syndrome (CdLS), a human rare disease, and recently SMC1A variants have been associated with epilepsy or resembling Rett syndrome phenotype. Finally, SMC1A variants have been identified in several human cancers. In this review, our current knowledge of the SMC1A gene has been summarized. PMID: 32222533 [PubMed - as supplied by publisher]
Publication date: Available online 30 May 2020Source: Life SciencesAuthor(s): Qi Fu, Zhenhai Yu
Publication date: Available online 29 May 2020Source: Life SciencesAuthor(s): Nagesh Kishan Panchal, E.P. Sabina
In this study, five machine learning algorithms and twelve types of molecular fingerprints were employed to generate QSAR discriminant models for mitochondrial toxicity. A threshold moving method was adopted to resolve the imbalance issue in the training data. Consensus of the models by an averaging probability strategy improved prediction performance. The best model has correct classification rates of 81.8% and 88.3% in ten-fold cross validation and external validation, respectively. Substructures such as phenol, carboxylic acid, nitro and arylchloride were found informative through analysis of information gain and freque...
This study is aimed at determining the prevalence of severe depression in Iranian women with breast...
Publication date: Available online 30 May 2020Source: European Journal of Surgical OncologyAuthor(s): R.H. Bhogal, P.H. Patel, S.L.F. Doran, S. Zar, J.M. Pollok, L.R. Jiao, W.H. Allum, M.A. Chaudry, S. Kumar
Publication date: Available online 29 May 2020Source: Respiratory InvestigationAuthor(s): Yoshiaki Kinoshita, Hiroshi Ishii, Yoshinobu Eishi, Keisuke Uchida, Masayo Yoshimura, Akinori Iwasaki, Masaki Fujita, Kazuki Nabeshima, Kentaro Watanabe
Authors: Lucioni M, Lionello M, Guida F, Sovran F, Canal F, Rizzotto G, Bertolin A PMID: 32469004 [PubMed - in process]
Authors: Fu J, Kim YJ Abstract With the rapid approval of immune checkpoint inhibitors for lung, melanoma, breast, genitourinary, and hematological malignancies, the hematopoietic cells in the tumor microenvironment (TME) are now considered an important, if not essential, consideration for cancer scientists. In many instances, syngeneic murine models have not been highly predictive for responsiveness in clinical trials. Our limited understanding of the human TME have, therefore, precluded a rational translation of immunotherapeutic combinations. This has led to the adoption of hematopoietic humanized murine models ...
Conclusions Surgical experience varied among FMPRS surgical fellows. Case volume was somewhat but not completely associated with self-perceived ability to practice a procedure independently.
Conclusions Opportunistic salpingectomy holds promise as a risk-reducing intervention for ovarian cancer. The American College of Obstetricians and Gynecologists and the Society of Gynecologic Oncology recommend that physicians counsel average-risk women regarding opportunistic salpingectomy when planning pelvic surgery. Randomized controlled trials are needed to evaluate long-term implications of salpingectomy. Urogynecologic surgeons should discuss salpingectomy as part of surgical informed consent. Vaginal salpingectomy should be incorporated into residency and fellowship training programs.