Results 71 to 80 of about 3,936,779 (293)

Tumor and germline testing with next generation sequencing in epithelial ovarian cancer: a prospective paired comparison using an 18‐gene panel

Molecular Oncology, EarlyView.
Genetic testing in epithelial ovarian cancer includes both germline and tumor‐testing. This approach often duplicates resources. The current prospective study assessed the feasibility of tumor‐first multigene testing by comparing tumor tissue with germline testing of peripheral blood using an 18‐gene NGS panel in 106 patients.
Elisabeth Spenard, Cristina Mitric, Melanie Care, Tracy L. Stockley, Raymond H. Kim, Jeanna McCuaig, Blaise Clarke, Laura Ranich, Clare Sheen, Sarah E. Ferguson, Liat Hogen, Taymaa May, Marcus Q. Bernardini   +12 more
wiley   +1 more source

An efficient strategy for producing RNA‐free Nucleocapsid protein of SARS‐CoV‐2 for biochemical and structural investigations

FEBS Open Bio, EarlyView.
Cleavable N‐terminal Thioredoxin fusion enabled soluble expression and purification of otherwise insoluble SARS‐CoV‐2 Nucleocapsid (N) protein. A four‐step purification strategy yielded highly homogeneous, RNA‐free N protein. Binding assays showed high RNA affinity (Kd ~ 28 nm). The study will facilitate high‐resolution structural studies of N protein,
Shweta Singh, Gagan D. Gupta
wiley   +1 more source

The impact of Hnrnpl deficiency on transcriptional patterns of developing muscle cells

FEBS Open Bio, EarlyView.
We performed nanopore whole‐transcriptome sequencing comparing RNA from Hnrnpl‐knockdown versus control C2C12 myoblasts to investigate the contributions of Hnrnpl to muscle development. Our results indicate that Hnrnpl regulates the expression of genes involved with Notch signaling and skeletal muscle, particularly splicing patterns of specific muscle ...
Hannah R. Littel, Mekala Gunasekaran, Audrey L. Daugherty, Natalya M. Wells, Johnnie Turner, Christine C. Bruels, Christina A. Pacak, Isabelle Draper, Peter B. Kang   +8 more
wiley   +1 more source

Reye's syndrome

Trends in Neurosciences, 1982
Reye's syndrome (encephalopathy with fatty infiltration of the viscera) is an acute illness of childhood that produces hepatic dysfunction and metabolic encephalopathy. The disease is fatal in as many as 40% of cases. The cause is unknown. Several environmental agents, particularly salicylates and aflatoxin, have been implicated as possible toxins in ...
openaire   +7 more sources

Mitochondria‐associated membranes (MAMs): molecular organization, cellular functions, and their role in health and disease

FEBS Open Bio, EarlyView.
Mitochondria‐associated membranes (MAMs) are contact sites between the endoplasmic reticulum and mitochondria that regulate calcium signaling, lipid metabolism, autophagy, and stress responses. This review outlines their molecular organization, roles in cellular homeostasis, and how dysfunction drives neurodegeneration, metabolic disease, cancer, and ...
Viet Bui, Maryline Santerre, Natalia Shcherbik, Bassel E Sawaya   +3 more
wiley   +1 more source

Interplay between RNA‐protein interactions and RNA structures in gene regulation

FEBS Open Bio, EarlyView.
Methodological advances in mapping transcriptome‐wide RNA‐protein interactions and RNA structures have started to uncover the potential of RNP conformations in gene regulation. Competing RNA–RNA, RNA‐protein and protein–protein interactions shape the compaction and function of RNPs throughout their lifetime and may provide novel therapeutic targets in ...
Jenni Rapakko, Mauro Scaravilli, Minna‐Liisa Änkö   +2 more
wiley   +1 more source

Homologous expression and purification of human HAX‐1 for structural studies

FEBS Open Bio, EarlyView.
This research protocol provides detailed instructions for cloning, expressing, and purifying large quantities of the intrinsically disordered human HAX‐1 protein, N‐terminally fused to a cleavable superfolder GFP, from mammalian cells. HAX‐1 is predicted to undergo posttranslational modifications and to interact with membranes, various cellular ...
Mariana Grieben
wiley   +1 more source

Phenome-wide profiling identifies genotype-phenotype associations in Phelan-McDermid syndrome using family-sourced data from an international registry

Molecular Autism
Background Phelan-McDermid syndrome (PMS) is a rare neurodevelopmental disorder caused by 22q13 deletions that include the SHANK3 gene or pathogenic sequence variants in SHANK3.
Rui Yin, Maxime Wack, Claire Hassen-Khodja, Michael T. McDuffie, Geraldine Bliss, Elizabeth J. Horn, Cartik Kothari, Brittany McLarney, Rebecca Davis, Kristen Hanson, Megan O’Boyle, Catalina Betancur, Paul Avillach   +12 more
doaj   +1 more source

Antiphospholipid Syndrome

Journal of Investigative Dermatology, 1993
The antiphospholipid antibodies (aPL), namely, the lupus anticoagulant and the anticardiolipin antibodies, are a family of autoantibodies directed predominantly against negatively charged phospholipids. Many studies have confirmed that patients with these antibodies are prone to repeated episodes of thrombosis, fetal losses, and thrombocytopenia.
Asherson, Ronald A., Cervera, Ricard
openaire   +2 more sources

Overview of molecular signatures of senescence and associated resources: pros and cons

FEBS Open Bio, EarlyView.
Cells can enter a stress response state termed cellular senescence that is involved in various diseases and aging. Detecting these cells is challenging due to the lack of universal biomarkers. This review presents the current state of senescence identification, from biomarkers to molecular signatures, compares tools and approaches, and highlights ...
Orestis A. Ntintas, Sylvia Vagena, Pavlos Pantelis, Giorgos Theocharous, Russel Petty, Konstantinos Evangelou, Vassilis G. Gorgoulis   +6 more
wiley   +1 more source