Results 151 to 160 of about 1,002,198 (296)

Genomic analyses identify recurrent MEF2D fusions in acute lymphoblastic leukaemia

Nature Communications, 2016
Acute lymphoblastic leukaemia is characterized by chromosomal rearrangements. Here, the authors carry out RNA-sequencing on a large cohort of patients and identify recurrent rearrangements of MEF2D, which lead to increased transcriptional activity of the
Zhaohui Gu, Michelle Churchman, Kathryn Roberts, Yongjin Li, Yu Liu, Richard C. Harvey, Kelly McCastlain, Shalini C. Reshmi, Debbie Payne-Turner, Ilaria Iacobucci, Ying Shao, I-Ming Chen, Marcus Valentine, Deqing Pei, Karen L. Mungall, Andrew J. Mungall, Yussanne Ma, Richard Moore, Marco Marra, Eileen Stonerock, Julie M. Gastier-Foster, Meenakshi Devidas, Yunfeng Dai, Brent Wood, Michael Borowitz, Eric E. Larsen, Kelly Maloney, Leonard A. Mattano Jr, Anne Angiolillo, Wanda L. Salzer, Michael J. Burke, Francesca Gianni, Orietta Spinelli, Jerald P. Radich, Mark D. Minden, Anthony V. Moorman, Bella Patel, Adele K. Fielding, Jacob M. Rowe, Selina M. Luger, Ravi Bhatia, Ibrahim Aldoss, Stephen J. Forman, Jessica Kohlschmidt, Krzysztof Mrózek, Guido Marcucci, Clara D. Bloomfield, Wendy Stock, Steven Kornblau, Hagop M. Kantarjian, Marina Konopleva, Elisabeth Paietta, Cheryl L. Willman, Mignon L. Loh, Stephen P. Hunger, Charles G. Mullighan   +55 more
doaj   +1 more source

The Influence of Drosophila Spire and Myosin V During Mid‐Oogenesis Is Independent of Their Direct Interaction

Cytoskeleton, EarlyView.
ABSTRACT Cooperativity between cytoskeletal proteins is crucial for spatiotemporal coordination in biological processes, like oogenesis. In mammalian and Drosophila oogenesis, proper assembly and function of actin networks require coordination between actin assembly factors Spire and formins, as well as actin‐associated proteins like myosins and Rab ...
Joseph Y. Ong, Hannah M. Bailey, Emma Carley, Michelle Panzica, Merin Rixen, Neil Billington, Rong Liu, Margot E. Quinlan   +7 more
wiley   +1 more source

Primary Pulmonary Epithelioid Inflammatory Myofibroblastic Sarcoma With SQSTM1::ALK Fusion

Diagnostic Cytopathology, EarlyView.
ABSTRACT Epithelioid inflammatory myofibroblastic sarcoma (EIMS) is a rare and aggressive variant of inflammatory myofibroblastic tumor (IMT) characterized by epithelioid morphology, atypical features, ALK rearrangements, and early metastatic potential.
Havva Gokce Terzioglu, Phillip McMullen, Güliz A. Barkan   +2 more
wiley   +1 more source

Primary Pulmonary Mesenchymal Neoplasm With EWSR1::CREM Fusion: Cytologic Findings and Molecular Diagnosis

Diagnostic Cytopathology, EarlyView.
ABSTRACT Background Primary pulmonary mesenchymal neoplasms with EWSR1::CREM fusion are rare. These lesions are challenging to diagnose by morphology and immunohistochemistry alone. Case A 66‐year‐old woman (ex‐smoker) was found to have a 1.3‐cm right lower lobe lung nodule that had grown very slowly over a 9‐year period.
Priya Upadhyay, Sanjay Mukhopadhyay, Swikrity U. Baskota   +2 more
wiley   +1 more source

Cytogenomic characterization of karyotypes with additional autosomal material

Scientific Reports
Chromosomal rearrangements involving additional material in individuals with phenotypic alterations usually result in partial trisomy, often accompanied by partial monosomy.
Priscila Soares Rodrigues, Bruna Burssed, Fernanda Bellucco, Débora Cristina Batista Rosolen, Chong Ae Kim, Maria Isabel Melaragno   +5 more
doaj   +1 more source

Oogenesis and germinal bed morphology of the brown anole (A. sagrei)

Developmental Dynamics, EarlyView.
Abstract Background The brown anole is a model species of the genus Anolis, a squamate (encompassing lizards and snakes) group widely studied in evolutionary, behavioral, and developmental biology. Full genome annotation, the establishment of gene editing techniques, and comprehensive description of reproductive tract morphology and embryogenesis in ...
Bonnie K. Kircher, Antonia Weberling, Erin J. Vance, Natalia A. Shylo, Katherine Starr, Zoe B. Griffin, Hannah Wilson, Melainia McClain, Florian Hollfelder, Suzannah A. Williams, Thomas J. Sanger, Richard R. Behringer, Paul A. Trainor   +12 more
wiley   +1 more source

Effects of chromosomal rearrangements on human-chimpanzee molecular evolution

, 2004
Many chromosomes are rearranged between humans and chimpanzees while others remain colinear. It was recently observed, based on over 100 genes, that the rates of protein evolution are substantially higher on rearranged than on colinear chromosomes during
Eric J Vallender, Bruce T Lahn
core  

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

A short history of chromosome rearrangements and gene fusions in cancer

, 2015
The molecular characterization of recurrent chromosome aberrations in the early 1980s laid the foundation for gene fusion detection in cancer. This approach remained the unrivalled method to identify fusion genes for a quarter of a century and led to the
Mitelman, Felix,, Lund University.
core   +1 more source

Sizing and concentration analysis of cfDNA using Biabooster technology: Results from a prospective plasma‐based collection of 77 patients with locally advanced unresectable esophageal cancer

International Journal of Cancer, EarlyView.
What's New? This study introduces a novel approach for detecting locally advanced esophageal carcinoma using cell‐free DNA (cfDNA) analysis through a highly sensitive fragmentome assay. Unlike traditional sequencing‐based methods that are limited by the absence of specific mutations in esophageal tumors, our method offers an alternative by quantifying ...
Anouchka Modesto, Sophie Gibert, Caroline Delmas, David Tougeron, Amaury Paumier, Alexandre Taillez, Samuel Le Sourd, Delphine Argo Leignel, Philippe Ronchin, Ariane Darut Jouve, Véronique Vendrely, Olivier Riou, Jérôme Martin‐Babau, Thomas Leroy, Laurent Quéro, Naïma Hanoun, Pierre Cordelier, Veronica Pezzella, Jean Pierre Delord, Rosine Guimbaud, Elizabeth Moyal, Catherine Seva   +21 more
wiley   +1 more source