Results 71 to 80 of about 1,703,111 (346)

Correlation of the differential expression of PIK3R1 and its spliced variant, p55α, in pan‐cancer

Molecular Oncology, EarlyView.
PIK3R1 undergoes alternative splicing to generate the isoforms, p85α and p55α. By combining large patient datasets with laboratory experiments, we show that PIK3R1 spliced variants shape cancer behavior. While tumors lose the protective p85α isoform, p55α is overexpressed, changes linked to poorer survival and more pronounced in African American ...
Ishita Gupta, Yang Song, Madeleine Ndahayo, Anirudh Saxena, Theresa Guo, Dylan Z. Kelley, Jessica Gore, Andrew Hennigan, Alexa Anderson, John C. Papadimitriou, Daria A. Gaykalova   +10 more
wiley   +1 more source

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

Missense and Non-Missense Lamin A/C Gene Mutations Are Similarly Associated with Major Arrhythmic Cardiac Events: A 20-Year Single-Centre Experience

Biomedicines
Arrhythmic risk stratification in patients with Lamin A/C gene (LMNA)-related cardiomyopathy influences clinical decisions. An implantable cardioverter defibrillator (ICD) should be considered in patients with an estimated 5-year risk of malignant ...
Cinzia Forleo, Maria Cristina Carella, Paolo Basile, Eugenio Carulli, Michele Luca Dadamo, Francesca Amati, Francesco Loizzi, Sandro Sorrentino, Ilaria Dentamaro, Marco Maria Dicorato, Stefano Ricci, Rosanna Bagnulo, Matteo Iacoviello, Vincenzo Ezio Santobuono, Carlo Caiati, Martino Pepe, Jean-Francois Desaphy, Marco Matteo Ciccone, Nicoletta Resta, Andrea Igoren Guaricci   +19 more
doaj   +1 more source

Genetic attenuation of ALDH1A1 increases metastatic potential and aggressiveness in colorectal cancer

Molecular Oncology, EarlyView.
Aldehyde dehydrogenase 1A1 (ALDH1A1) is a cancer stem cell marker in several malignancies. We established a novel epithelial cell line from rectal adenocarcinoma with unique overexpression of this enzyme. Genetic attenuation of ALDH1A1 led to increased invasive capacity and metastatic potential, the inhibition of proliferation activity, and ultimately ...
Martina Poturnajova, Zuzana Kozovska, Ondrej Pos, Kristina Pavlov, Sachin Gulati, Peter Makovicky, Kristina Jakic, Monika Burikova, Eva Sedlackova, Barbora Svitkova, Silvia Tyciakova, Vojtech Bystry, Nicolas Blavet, Boris Tichy, Matej Hrnciar, Jaroslav Budis, Miroslav Tomas, Peter Dubovan, Georgina Kolnikova, Veronika Repaska, Nikoleta Mojzesova, Eva Zomborska, Daniel Pindak, Michal Mego, Tomas Szemes, Miroslava Matuskova   +25 more
wiley   +1 more source

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

Longitudinal circulating tumor DNA profiling in patients with advanced endometrial cancer using an off‐the‐shelf targeted NGS panel

Molecular Oncology, EarlyView.
Intratumour heterogeneity complicates precision management of advanced endometrial cancer. Circulating tumor DNA (ctDNA) offers a minimally invasive strategy to capture tumor evolution and therapeutic resistance. Here, we compare tumor‐agnostic NGS with tumor‐informed ddPCR, outlining their relative sensitivity, concordance, and clinical implications ...
Carlos Casas‐Arozamena, Karin Teien Lande, Eva Diaz, Ana Vilar, Juan Cueva, Efigenia Arias, Victoria Sampayo, Alicia Abalo, Nerea González, Eva Colás, Antonio Gil‐Moreno, Miguel Abal, Gema Moreno‐Bueno, Therese Sørlie, Kristina Lindemann, Laura Muinelo‐Romay   +15 more
wiley   +1 more source

MMuFLR: missense mutation and frameshift location reporter [PDF]

Bioinformatics, 2013
Abstract Motivation: Cancer researchers seeking immunotherapy targets in cancer cells need tools to locate highly expressed proteins unique to cancer cells. Missense mutation and frameshift location reporter (MMuFLR), a Galaxy-based workflow, analyzes next-generation sequencing paired read RNA-seq output to reliably identify small ...
Susan K, Rathe, James E, Johnson, Kevin A T, Silverstein, Jesse J, Erdmann, Adrienne L, Watson, Flavia E, Popescu, John R, Ohlfest, David A, Largaespada   +7 more
openaire   +2 more sources

SomInaClust: detection of cancer genes based on somatic mutation patterns of inactivation and clustering [PDF]

, 2015
Background: With the advances in high throughput technologies, increasing amounts of cancer somatic mutation data are being generated and made available.
Fierro Gutierrez, Ana Carolina Elisa, Marchal, Kathleen, Van den Eynden, Jimmy, Verbeke, Lieven   +3 more
core   +2 more sources

Impact of functional studies on exome sequence variant interpretation in early-onset cardiac conduction system diseases [PDF]

, 2020
Aims The genetic cause of cardiac conduction system disease (CCSD) has not been fully elucidated. Whole-exome sequencing (WES) can detect various genetic variants; however, the identification of pathogenic variants remains a challenge.
Asano, Yoshihiro, Beerens, Manu, Burch, Micah L, Buys, Eva, Chiang, David Y, Cui, Shihe, Fujino, Noboru, Fujita, Takashi, Funada, Akira, Furusho, Hiroshi, Hayashi, Kenshi, Hodatsu, Akihiko, Inoue, Masaru, Kaku, Bunji, Kato, Takeshi, Kawashiri, Masa-aki, Kelly, Amy E, Kita, Yoshihito, Kiviniemi, Tuomas O, Kobayashi, Isao, Konno, Tetsuo, Kurata, Yasutaka, MacRae, Calum A, Nagata, Yoji, Nakanishi, Chiaki, Namura, Masanobu, Nomura, Akihiro, Oe, Kotaro, Okada, Hirofumi, Onoue, Kenji, Saito, Yoshihiko, Sakamoto, Yuichiro, Sakata, Kenji, Sips, Patrick, Tada, Hayato, Takamura, Masayuki, Takashima, Seiji, Takeda, Yuko, Tanaka, Yoshihiro, Teramoto, Ryota, Tsuchiya, Taketsugu, Tsuda, Toyonobu, Usuda, Keiich, Yamagishi, Masakazu, Zhao, Yanbin   +44 more
core   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source