Results 41 to 50 of about 1,132,364 (264)

Genomic Diversity and Clinical Variability in Pediatric Primary Cutaneous Anaplastic Large Cell Lymphoma: A Case Series

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Primary cutaneous anaplastic large cell lymphoma (pcALCL) is a rare pediatric CD30‐positive T‐cell lymphoproliferative disorder with an excellent prognosis, but its genomic drivers are poorly defined. We report three children with skin‐limited disease demonstrating striking molecular heterogeneity, including NPM::ALK, NUP214::FRK, and a novel ...
Shoshana Greenberger, Efrat Bar‐Ilan, Victoria Marcu, Evgeny Grishin, Rinat Yacobi, Aviv Barzilai, Hana Golan, Assaf Arie Barg   +7 more
wiley   +1 more source

LPG2 Gene Duplication in Leishmania infantum: A Case for CRISPR-Cas9 Gene Editing

Frontiers in Cellular and Infection Microbiology, 2020
On the surface of the Leishmania promastigote, phosphoglycans (PG) such as lipophosphoglycan (LPG), proteophosphoglycan (PPG), free phosphoglycan polymers (PGs), and acid phosphatases (sAP), are dominant and contribute to the invasion and survival of ...
Flávio Henrique Jesus-Santos, Flávio Henrique Jesus-Santos, Jéssica Lobo-Silva, Pablo Ivan Pereira Ramos, Albert Descoteaux, Jonilson Berlink Lima, Valéria Matos Borges, Valéria Matos Borges, Leonardo Paiva Farias, Leonardo Paiva Farias   +9 more
doaj   +1 more source

Central Nervous System Neuroblastoma, FOXR2‐Activated: A Pooled Analysis of Published Clinical Outcomes

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Central nervous system (CNS) neuroblastoma, FOXR2‐activated, is a recently recognized entity in the WHO CNS5 classification, defined by activation of the FOXR2 transcription factor and unique histopathological features. This review synthesizes available literature and pooled clinical data, providing insight into demographics ...
Sudarshawn Damodharan, Mohamed S. Abdelbaki   +1 more
wiley   +1 more source

Targeting the Apoa1 locus for liver-directed gene therapy

Molecular Therapy: Methods & Clinical Development, 2021
Clinical application of somatic genome editing requires therapeutics that are generalizable to a broad range of patients. Targeted insertion of promoterless transgenes can ensure that edits are permanent and broadly applicable while minimizing risks of ...
Marco De Giorgi, Ang Li, Ayrea Hurley, Mercedes Barzi, Alexandria M. Doerfler, Nikitha A. Cherayil, Harrison E. Smith, Jonathan D. Brown, Charles Y. Lin, Karl-Dimiter Bissig, Gang Bao, William R. Lagor   +11 more
doaj   +1 more source

Gene targeting in Arabidopsis

The Plant Journal, 2001
Summary Precise modification by gene targeting (GT) provides an important tool for studies of gene function in vivo . Although routine with many organisms, only isolated examples of GT events have been reported for flowering plants.
Hanin, M., Volrath, S., Bogucki, A., Briker, M., Ward, E., Paszkowski, Jerzy   +5 more
openaire   +3 more sources

Sustained Therapeutic Efficacy of Intravenous Plasminogen Concentrate in Pediatric Patients With Type 1 Plasminogen Deficiency: An Analysis of Dosing Parameters and Clinical Outcomes

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Type 1 plasminogen deficiency (PLGD‐1) is an ultra‐rare autosomal recessive disorder caused by variants in the PLG gene and affects approximately 1.6 individuals per million. The condition is characterized by decreased plasminogen levels and impaired function, resulting in fibrin‐rich lesions on mucous membranes throughout the body.
Charles Nakar, Karen Thibaudeau, Mary Mathias, Heather McDaniel, Madlen Reschke, Klaus Tenbrock, Joseph M. Parker, Amy Shapiro   +7 more
wiley   +1 more source

Hepatic secretion of apoB-100 is impaired in hypobetalipoproteinemic mice with an apoB-38.9-specifying allele

Journal of Lipid Research, 2004
Apolipoprotein B (apoB) truncation-specifying mutations cause familial hypobetalipoproteinemia (FHBL). Lipoprotein kinetics studies have shown that production rates of apoB-100 are reduced by 70–80% in heterozygous FHBL humans, instead of the expected 50%
Zhouji Chen, Robin L. Fitzgerald, Gang Li, Nicholas O. Davidson, Gustav Schonfeld   +4 more
doaj   +1 more source

Precise Genome Editing in miRNA Target Site via Gene Targeting and Subsequent Single-Strand-Annealing-Mediated Excision of the Marker Gene in Plants

Frontiers in Genome Editing, 2021
Gene targeting (GT) enables precise genome modification—e.g., the introduction of base substitutions—using donor DNA as a template. Combined with clean excision of the selection marker used to select GT cells, GT is expected to become a standard ...
Namie Ohtsuki, Keiko Kizawa, Akiko Mori, Ayako Nishizawa-Yokoi, Ayako Nishizawa-Yokoi, Takao Komatsuda, Hitoshi Yoshida, Katsuyuki Hayakawa, Seiichi Toki, Seiichi Toki, Seiichi Toki, Hiroaki Saika   +11 more
doaj   +1 more source

Personalized Zebrafish Models for Fusion‐Positive Pediatric Sarcomas

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Clinical sequencing efforts have revolutionized our approaches to categorizing pediatric cancers in real time. This has dramatically improved our ability to profile pediatric tumors, identify actionable vulnerabilities, and influence clinical care.
Lisa H. Hall, Emma N. Harrison, Genevieve C. Kendall   +2 more
wiley   +1 more source

The Gene Targeting Approach of Small Fragment Homologous Replacement (SFHR) Alters the Expression Patterns of DNA Repair and Cell Cycle Control Genes

Molecular Therapy: Nucleic Acids, 2016
Cellular responses and molecular mechanisms activated by exogenous DNA that invades cells are only partially understood. This limits the practical use of gene targeting strategies.
Silvia Pierandrei, Andrea Luchetti, Massimo Sanchez, Giuseppe Novelli, Federica Sangiuolo, Marco Lucarelli   +5 more
doaj   +1 more source