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Investigating the mechanisms underlying resistance to chemoterapy and to CRISPR-Cas9 in cancer cell lines.
Sci Rep
March 2024
Department of Mathematics, University of Trento, Povo, Italy.
Cancer is one of the major causes of death worldwide and the development of multidrug resistance (MDR) in cancer cells is the principal cause of chemotherapy failure. To gain insights into the specific mechanisms of MDR in cancer cell lines, we developed a novel method for the combined analysis of recently published datasets on drug sensitivity and CRISPR loss-of-function screens for the same set of cancer cell lines. For our analysis, we first selected cell lines that consistently exhibit drug resistance across several classes of compounds.
View Article and Find Full Text PDFSystematics and phylogeography of bats of the genus Rhynchonycteris (Chiroptera: Emballonuridae): Integrating molecular phylogenetics, ecological niche modeling and morphometric data.
PLoS One
May 2023
Laboratorio de Sistematica, Entomologia e Biogeografia, Programa de Pós-Graduação em Biodiversidade Animal, Universidade Federal de Santa Maria, Santa Maria, Rio Grande do Sul, Brazil.
Rhynchonycteris is a monotypic genus of Embalonurid bats, whose geographic distribution extends from southern Mexico to tropical regions of the South American continent, including Trinidad and Tobago. Although species that have a wide geographic distribution are frequently revealed to be polytypic, to date, no study has evaluated the taxonomic status of populations of Rhynchonycteris naso. Thus, the aim of this study is to address the patterns of phylogeographic structure and taxonomic subdivision of R.
View Article and Find Full Text PDFIdentifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.
Am J Med Genet A
October 2022
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Article Synopsis
- * Researchers analyzed clinical and genetic data from 36 individuals with CDH+ to identify genes that may influence diaphragm development and reveal new related health conditions.
- * They found potential harmful variants in genes (CREBBP, SMARCA4, UBA2, USP9X) that are expressed in developing mouse diaphragms, suggesting these genes contribute to diaphragm development and furthering our understanding of CDH.
Genomic analysis of low-grade serous ovarian carcinoma to identify key drivers and therapeutic vulnerabilities.
J Pathol
January 2021
Cancer Genetics Laboratory, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia.
Article Synopsis
- Low-grade serous ovarian carcinoma (LGSOC) shows poor response to chemotherapy, underscoring the importance of genomic analysis to uncover new treatment strategies.
- The study analyzed 71 LGSOC cases, focusing on 127 candidate genes and identifying significant mutations, particularly in RAS/RAF pathway genes and novel drivers like USP9X and MACF1.
- Immunohistochemistry revealed a high positivity rate for hormone receptors and specific protein alterations linked to worse outcomes, suggesting that therapeutic interventions targeting these genomic alterations could improve patient care.
RNA sequencing identifies a novel USP9X-USP6 promoter swap gene fusion in a primary aneurysmal bone cyst.
Genes Chromosomes Cancer
August 2019
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.
Primary aneurysmal bone cyst (ABC) is a benign multiloculated cystic lesion of bone that is defined cytogenetically by USP6 gene rearrangements. Rearrangements involving USP6 are promoter swaps, usually generated by fusion of the noncoding upstream exons of different partner genes with exon 1 or 2 of USP6, thus leading to transcriptional upregulation of full-length USP6 coding sequence. Testing for USP6 rearrangements is used diagnostically to distinguish it from secondary ABC and other giant cell-rich primary bone tumors.
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