Results 31 to 40 of about 224,524 (254)

Validation of multi-gene panel next-generation sequencing for the detection of BRCA mutation in formalin-fixed, paraffin-embedded epithelial ovarian cancer tissues

Taiwanese Journal of Obstetrics & Gynecology, 2023
Objective: The therapeutic effect of poly (ADP-ribose) polymerase (PARP) inhibitors in patients with epithelial ovarian cancer (EOC) with somatic BRCA mutations is consistent with that observed in patients with germline BRCA mutations, indicating the ...
Eun Taeg Kim, Ha Eun Jeong, Hyung Joon Yoon, Ki Hyung Kim, Dong Soo Suh   +4 more
doaj   +1 more source

Ultra-deep sequencing leads to earlier and more sensitive detection of the tyrosine kinase inhibitor resistance mutation T315I in chronic myeloid leukemia

Haematologica, 2016
Chronic myeloid leukemia cells acquire resistance to tyrosine kinase inhibitors through mutations in the ABL1 kinase domain. The T315I mutation mediates resistance to imatinib, dasatinib, nilotinib and bosutinib, whereas sensitivity to ponatinib remains.
Constance Baer, Wolfgang Kern, Sarah Koch, Niroshan Nadarajah, Sonja Schindela, Manja Meggendorfer, Claudia Haferlach, Torsten Haferlach   +7 more
doaj   +1 more source

The genome sequence of the Twenty-plume Moth, Alucita hexadactyla Linnaeus, 1758 [version 1; peer review: 2 approved, 1 approved with reservations]

Wellcome Open Research
We present a genome assembly from a specimen of Alucita hexadactyla (Twenty-plume Moth; Arthropoda; Insecta; Lepidoptera; Alucitidae). The genome sequence has a total length of 878.53 megabases.
David C. Lees, Caroline Eve Mitchell, Liam M. Crowley, Peter W. H. Holland   +3 more
doaj   +1 more source

454 sequencing put to the test using the complex genome of barley

BMC Genomics, 2006
Background During the past decade, Sanger sequencing has been used to completely sequence hundreds of microbial and a few higher eukaryote genomes. In recent years, a number of alternative technologies became available, among them adaptations of the ...
Keller Beat, Close Timothy J, Graner Andreas, Schlagenhauf Edith, Wicker Thomas, Stein Nils   +5 more
doaj   +1 more source

Migrating to Long-Read Sequencing for Clinical Routine TKI Resistance Mutation Screening

Cancer Informatics, 2022
Objective: The aim of this project was to implement long-read sequencing for BCR-ABL1 TKI resistance mutation screening in a clinical setting for patients undergoing treatment for chronic myeloid leukemia.
Wesley Schaal, Adam Ameur, Ulla Olsson-Strömberg, Monica Hermanson, Lucia Cavelier, Ola Spjuth   +5 more
doaj   +1 more source

Do second generation sequencing techniques identify documented genetic markers for neonatal diabetes mellitus?

Heliyon, 2021
Neonatal diabetes mellitus (NDM) is noted as a genetic, heterogeneous, and rare disease in infants. NDM occurs due to a single-gene mutation in neonates. A common source for developing NDM in an infant is the existence of mutations/variants in the KCNJ11
Imran Ali Khan
doaj   +1 more source

Performance comparison: exome sequencing as a single test replacing Sanger sequencing [PDF]

Molecular Genetics and Genomics, 2020
ABSTRACT Systematic performance comparing the results of exome-sequencing as a single test replacing Sanger-sequencing of targeted gene(s) is still lacking. In this study we compared Sanger-sequencing results of 258 genes to those obtained from next generation sequencing (NGS) using two exome-sequencing enrichment kits: Agilent ...
Hila Fridman, Concetta Bormans, Moshe Einhorn, Daniel Au, Arjan Bormans, Yuval Porat, Luisa Fernanda Sanchez, Brent Manning, Ephrat Levy-Lahad, Doron M. Behar   +9 more
openaire   +2 more sources

MultiEditR: The first tool for the detection and quantification of RNA editing from Sanger sequencing demonstrates comparable fidelity to RNA-seq

Molecular Therapy: Nucleic Acids, 2021
We present MultiEditR (Multiple Edit Deconvolution by Inference of Traces in R), the first algorithm specifically designed to detect and quantify RNA editing from Sanger sequencing (z.umn.edu/multieditr).
Mitchell G. Kluesner, Rafail Nikolaos Tasakis, Taga Lerner, Annette Arnold, Sandra Wüst, Marco Binder, Beau R. Webber, Branden S. Moriarity, Riccardo Pecori   +8 more
doaj   +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

p190A/ARHGAP35 and p190B/ARHGAP5 proteins in endometrial cancer: a novel cancer‐relevant paralog interplay

Molecular Oncology, EarlyView.
This study identifies ARHGAP5, in addition to the frequently mutated ARHGAP35, as significantly mutated in endometrial cancer. Mutations in both genes co‐occur and are associated with their correlated downregulation. Functional CRISPR studies show that both paralogs regulate similar pathways, including actin cytoskeleton organization.
Mathilde Pinault, Capucine Heraud, Mélissa Correia de Oliveira, Véronique Neaud, Valérie Valesco, Valérie Prouzet‐Mauleon, Béatrice Turcq, Jean‐William Dupuy, Anne‐Aurélie Raymond, Sabrina Croce, Frédéric Saltel, Valérie Lagrée, Violaine Moreau   +12 more
wiley   +1 more source