Results 81 to 90 of about 64,155 (301)

Somatic mutational landscape in von Hippel–Lindau familial hemangioblastoma

Molecular Oncology, EarlyView.
The causes of central nervous system (CNS) hemangioblastoma in Von Hippel–Lindau (vHL) disease are unclear. We used Whole Exome Sequencing (WES) on familial hemangioblastoma to investigate events that underlie tumor development. Our findings suggest that VHL loss creates a permissive environment for tumor formation, while additional alterations ...
Maja Dembic, Anne Nørremølle, Lilian Bomme Ousager, Lars van Brakel Andersen, Marie Louise Mølgaard Binderup, Mads Thomassen   +5 more
wiley   +1 more source

Supplementary Figure 2 from Identification of an Aberrantly Spliced Form of HDMX in Human Tumors: A New Mechanism for HDM2 Stabilization

, 2023
Simona Giglio, Francesca Romana Mancini, Francesca Gentiletti, Giorgia Sparaco, Lara Felicioni, Fabio Barassi, Carla Martella, Andrea Prodosmo, Stefano Iacovelli, Fiamma Buttitta, Antonella Farsetti, Silvia Soddu, Antonio Marchetti, Ada Sacchi, Alfredo Pontecorvi, Fabiola Moretti   +15 more
openalex   +2 more sources

Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276

FEBS Open Bio, EarlyView.
Somatic variants of the neurofibromatosis type 1 (NF1) gene occur across neoplasms without clinical manifestation of the disease NF1. We identified emerging somatic pathogenic NF1 variants and hotspots, for example, at the arginine finger 1276. Those missense variants provide fundamental information about neurofibromin's role in cancer.
Mareike Selig, Swanhild Lohse, Sara Elahi, Nils Hartmann, Stefanie Deckert, Shutian Si, Alexander Desuki, Anja Harder   +7 more
wiley   +1 more source

Comprehensive profiling of cancer neoantigens from aberrant RNA splicing

Journal for ImmunoTherapy of Cancer
Background Cancer neoantigens arise from protein-altering somatic mutations in tumor and rank among the most promising next-generation immuno-oncology agents when used in combination with immune checkpoint inhibitors.
Yi Lin, Yan W Asmann, Barath Shreeder, Keith L Knutson, Erik Jessen, Daniel P Wickland, Colton McNinch, Brian Necela   +7 more
doaj   +1 more source

Last Nucleotide Substitutions of COL4A5 Exons Cause Aberrant Splicing [PDF]

, 2021
Yuya Aoto, Tomoko Horinouchi, Tomohiko Yamamura, Atsushi Kondo, Sadayuki Nagai, Shinya Ishiko, Eri Okada, Rini Rossanti, Nana Sakakibara, China Nagano, Hiroyuki Awano, Hiroaki Nagase, Yuko Shima, Koichi Nakanishi, Masafumi Matsuo, Kazumoto Iijima, Kandai Nozu   +16 more
openalex   +1 more source

FGFR Like1 drives esophageal cancer progression via EMT, PI3K/Akt, and notch signalling: insights from clinical data and next‐generation sequencing analysis

FEBS Open Bio, EarlyView.
Clinical analysis reveals significant dysregulation of FGFRL1 in esophageal cancer (EC) patients. RNAi‐coupled next‐generation sequencing (NGS) and in vitro study reveal FGFRL1‐mediated EC progression via EMT, PI3K/Akt, and Notch pathways. Functional assays confirm its role in tumor growth, migration, and invasion.
Aprajita Srivastava, Anoop Saraya, Deepak Gunjan, Rinu Sharma   +3 more
wiley   +1 more source

Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases

Annals of Clinical and Translational Neurology
Objective Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next‐generation sequencing (NGS).
Alba Segarra‐Casas, Cristina Domínguez‐González, Daniel Natera‐de Benito, Solange Kapetanovic, Aurelio Hernández‐Laín, Berta Estévez‐Arias, Laura Llansó, Carlos Ortez, Cristina Jou, Itxaso Martí‐Carrera, Arístides López‐Márquez, Maria José Rodríguez, Laura González‐Mera, Velina Nedkova, Roberto Fernández‐Torrón, Benjamín Rodríguez‐Santiago, Cecília Jimenez‐Mallebrera, Raul Juntas‐Morales, Adolfo López‐de Munain, Jordi Surrallés, Andrés Nascimento, Eduard Gallardo, Montse Olivé, Pia Gallano, Lidia González‐Quereda   +24 more
doaj   +1 more source

Differential regulation of ZFAS1 splice variants by endoplasmic reticulum stress in hepatocyte cell lines

FEBS Open Bio, EarlyView.
ZFAS1 is a lncRNA promoting cell proliferation and migration, exhibiting high expression in various cancers. It is conserved, widely expressed, and produces multiple splice variants with unclear roles. We identified several splice variants in hepatocyte models, and found that inhibiting or suppressing regulators of the unfolded protein response (PERK ...
Sébastien Soubeyrand, Paulina Lau, Ruth McPherson   +2 more
wiley   +1 more source

HIV‐1 establishes immediate latency in T cells expressing the viral Nef protein

FEBS Open Bio, EarlyView.
Nef is a viral protein often omitted from HIV‐1 reporter viruses. Consequently, its role in viral latency is unclear. We developed three novel dual reporter HIV‐1 derivatives that express Nef and allow for detection of latent and productive infection. Using these reporters, we show that Nef does not affect the establishment of immediate viral latency ...
Cindy Lam, Ivan Sadowski
wiley   +1 more source

Effectiveness of integrated interpretation of exome and corresponding transcriptome data for detecting splicing variants of genes associated with autosomal recessive disorders

Molecular Genetics and Metabolism Reports, 2019
Purpose: Part of the weakness of exome analysis lies in the inability to detect aberrant splicing. An evaluation of the post-splicing mRNA sequence concurrently with genomic variants could improve the diagnostic rate.
Mamiko Yamada, Hisato Suzuki, Yuichi Shiraishi, Kenjiro Kosaki   +3 more
doaj   +1 more source