Results 101 to 110 of about 51,494 (318)

Real-World Experience in Treatment of Patients with Non-Small-Cell Lung Cancer with BRAF or cMET Exon 14 Skipping Mutations [PDF]

, 2023
Urška Janžič, Walid Shalata, Katarzyna Szymczak-Kulus, Rafał Dziadziuszko, Marko Jakopović, Giannis Mountzios, Adam Płużański, António Araújo, Andriani Charpidou, Abed Agbarya   +9 more
openalex   +1 more source

Compound heterozygous SLC12A5 variants expand the molecular and functional spectrum of KCC2‐developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Overview of the multimodal experimental approach integrating clinical, genetic, in silico, and in vitro investigations. Clinical: Representative EEG recording setup and ictal traces from affected patients. Genetic: Pedigrees for Families A and B highlighting the inheritance of the four identified SLC12A5 variants (A1, A2, B1, B2).
Mira Hamze, Robyn Whitney, Dorothée Ville, Nathalie Villeneuve, Anna‐Maria Hartmann, Lisa Becker, Jens Hausmann, Jinwei Zhang, Cathy Brier, Lucie I. Pisella, Perrine Friedel, Audrey Labalme, Eudeline Alix, Nicolas Chatron, Damien Sanlaville, Sylvie Gory‐Fauré, Eric Denarier, Christophe Porcher, Gaetan Lesca, Igor Medina   +19 more
wiley   +1 more source

Genetic diagnosis as a tool for personalized treatment of Duchenne muscular dystrophy [PDF]

, 2016
Accurate definition of genetic mutations causing Duchenne muscular dystrophy (DMD) has always been relevant in order to provide genetic counseling to patients and families, and helps to establish the prognosis in the case where the distinction between ...
Bello, Luca, Pegoraro, Elena
core  

VarDict: a novel and versatile variant caller for next-generation sequencing in cancer research [PDF]

, 2016
Accurate variant calling in next generation sequencing (NGS) is critical to understand cancer genomes better. Here we present VarDict, a novel and versatile variant caller for both DNA- and RNA-sequencing data.
Ahdesmaki, Miika, Barrett, J. Carl, Chapman, Brad, Dougherty, Brian, Dry, Jonathan R., Hofmann, Oliver, Johnson, Justin, Lai, Zhongwu, Markovets, Aleksandra, McEwen, Robert   +9 more
core   +2 more sources

Dysferlin Exon 32 Skipping in Patient Cells [PDF]

, 2018
Dysferlinopathies are rare genetic diseases affecting muscles due to mutations in DYSF. Exon 32 of DYSF has been shown to be dispensable for dysferlin functions. Here we present a method to visualize the skipping of exon 32 at the RNA and protein levels using an antisense oligonucleotide on cells derived from a dysferlinopathy-affected patient.
Barthelemy, Florian, Courrier, Sebastien, Lévy, Nicolas, Krahn, Martin, Bartoli, Marc   +4 more
openaire   +3 more sources

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source

Saturation mutagenesis reveals manifold determinants of exon definition. [PDF]

, 2017
To illuminate the extent and roles of exonic sequences in the splicing of human RNA transcripts, we conducted saturation mutagenesis of a 51-nt internal exon in a three-exon minigene.
Anquetil, Vincent, Arias, Mauricio A., Chasin, Lawrence A., Ju, Jingyue, Kalachikov, Sergey, Ke, Shengdong, Maity, Alisha, Russo, James J, Yang, Anthony, Zamalloa, Jorge Rojas   +9 more
core   +2 more sources

Clinical implications of PD‐L1 expression in oncogene‐driven NSCLC: Differential responses to targeted agents and immune checkpoint inhibitors

International Journal of Cancer, EarlyView.
What's New? PD‐L1 is a reliable biomarker for predicting immunotherapy efficacy in patients with non‐small‐cell lung cancer lacking oncogenic driver mutations. However, its significance in patients with driver mutations remains unclear. In this study of 273 patients with stage IV non–‐small‐cell lung cancer harboring diverse driver alterations and PD ...
Xiaoxiao Fan, Chenxi Wei, Minjun Rong, Shengnan Wang, Jiaying Wang, Xiaohan Wang, Xiao Han, Xue Meng   +7 more
wiley   +1 more source

First Report of Homozygous COL7A1 c.5756delG Mutation Causing Recessive Dystrophic Epidermolysis Bullosa in a Non‐Consanguineous Japanese Family

JEADV Clinical Practice, EarlyView.
ABSTRACT Severe recessive dystrophic epidermolysis bullosa (RDEB) is usually caused by biallelic loss‐of‐function mutations in COL7A1. While the c.5756delG variant has been previously reported in heterozygous form, its clinical impact in homozygosity has not been described.
Nozomi Kohama, Sayaka Yamaguchi, Teruki Yanagi, Yumi Akamine, Kimiko Nonaka, Daisuke Utsumi, Kenzo Takahashi   +6 more
wiley   +1 more source

Deleterious c-Cbl Exon Skipping Contributes to Human Glioma

Neoplasia: An International Journal for Oncology Research, 2015
c-Cbl, a RING-type ubiquitin E3 ligase, downregulates various receptor tyrosine kinases (e.g., epidermal growth factor receptor (EGFR)), leading to inhibition of cell proliferation.
Min Woo Seong, Seung Hyeun Ka, Ji Ho Park, Jong Ho Park, Hee Min Yoo, Seung Wook Yang, Jung Mi Park, Dongeun Park, Soon Tae Lee, Jae Hong Seol, Chin Ha Chung   +10 more
doaj   +1 more source