Results 51 to 60 of about 2,278,996 (305)

Whole-exome sequencing revealed a novel heterozygous variant of NF1 in a Vietnamese family with neurofibromatosis type I

Egyptian Journal of Medical Human Genetics
Background Neurofibromatosis type I (NF1) is one of the most common autosomal dominant disorders caused by mutations in the NF1 gene. Pathogenic variants in this gene induce a wide range of phenotypes, including dermal neurofibromas along nerves ...
Thao Huong Dinh, Sang Tien Trieu, Dung Trung Nghiem, Duong Thuy Nguyen   +3 more
doaj   +1 more source

Identification and Characterisation of Technological Topics in the Field of Molecular Biology [PDF]

, 2008
This paper focuses on methodological approaches for characterising the specific topics within a technological field based on scientific literature data. We introduce a diachronic clustering analysis approach and some bibliometric indicators.
Besagni, Dominique, François, Claire, Hörlesberger, Marianne, Roche, Ivana, Schiebel, Edgar L   +4 more
core   +4 more sources

Identification of longevity genes with systems biology approaches

Advances and Applications in Bioinformatics and Chemistry, 2009
Identification of genes involved in the aging process is critical for understanding the mechanisms of age-dependent diseases such as cancer and diabetes. Measuring the mutant gene lifespan, each missing one gene, is traditionally employed to identify longevity genes.
Yuanyou, Tan, John M, Bush, Weijiu, Liu, Fusheng, Tang   +3 more
openaire   +3 more sources

Feasibility and Safety of High‐Dose Proton Re‐Irradiation in Recurrent Pediatric Central Nervous System Tumors: A Single‐Institution Retrospective Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Purpose Pediatric central nervous system (CNS) tumors often recur despite multimodality therapy. Although re‐irradiation (re‐RT) has historically been limited by concerns for severe late toxicities, modern techniques have renewed interest in this approach. Proton therapy provides dosimetric advantages that may enable curative re‐treatment with
Jin‐Ho Song, Jonathan Baron, Carlos Chavez Perez, Sidharth Ramesh, Jane Minturn, Kavita A. Desai, Amish C. Shah, Jean M. Belasco, Kristina A. Cole, Michael J. Fisher, Phillip B. Storm, Peter M. Madsen, Goldie Kurtz, Robert A. Lustig, Christine Hill‐Kayser, Michael J. LaRiviere   +15 more
wiley   +1 more source

Efficient Sequencing, Assembly, and Annotation of Human KIR Haplotypes

Frontiers in Immunology, 2020
The homology, recombination, variation, and repetitive elements in the natural killer-cell immunoglobulin-like receptor (KIR) region has made full haplotype DNA interpretation impossible in a high-throughput workflow.
David Roe, Jonathan Williams, Keyton Ivery, Jenny Brouckaert, Nick Downey, Chad Locklear, Rui Kuang, Rui Kuang, Martin Maiers   +8 more
doaj   +1 more source

Two Faces of NOTCH1 in Childhood Lymphoblastic T‐Cell Neoplasia: Prognostic Divergence of Mutational and Structural Aberrations

Pediatric Blood &Cancer, EarlyView.
ABSTRACT In pediatric patients, T‐cell lymphoblastic lymphoma (T‐LBL) survival exceeds 80%. Relapse remains associated with limited curative options. Frontline treatment is largely extrapolated from T‐cell acute lymphoblastic leukemia (T‐ALL) treatment, reflecting the ongoing debate, whether both entities represent distinct diseases or variants within ...
Marie C. Heider, Amelie Alfert, Marc Hotfilder, Birgit Burkardt, Marcel te Vrugt   +4 more
wiley   +1 more source

Anatomical and functional asymmetry predicts G-force tolerance in high-Intensity physical performers

Scientific Reports
Anatomical asymmetry is known to affect motor control and postural stability, but its impact under extreme physical stress, such as gravitational acceleration, remains underexplored.
Kyu-Lim Lee, Jun-Young Sung, Hee-Jin Kim
doaj   +1 more source

Comparison between Conventional Blind Injections and Ultrasound-Guided Injections of Botulinum Toxin Type A into the Masseter: A Clinical Trial

Toxins, 2020
The aim of the study was to propose a more efficient and safer botulinum toxin type A (BoNT-A) injection method for the masseter by comparing the conventional blind injection and a novel ultrasonography (US)-guided injection technique in a clinical trial.
Hyungkyu Bae, Jisoo Kim, Kyle K. Seo, Kyung-Seok Hu, Seong-Taek Kim, Hee-Jin Kim   +5 more
doaj   +1 more source

A domain ontology for the non-coding RNA field [PDF]

, 2015
Identification of non-coding RNAs (ncRNAs) has been significantly enhanced due to the rapid advancement in sequencing technologies. On the other hand, semantic annotation of ncRNA data lag behind their identification, and there is a great need to ...
Blake, Judith A., Dou, Dejing, Eilbeck, Karen, Huang, Jingshan, Jiang, Guoqian, Lin, Yu, Natale, Darren A., Ruttenberg, Alan, Smith, Barry, Zimmermann, Michael T.   +9 more
core   +1 more source

Infection Control Practices for Vascular Access Management in Hemodialysis: Results From a Nationwide Survey of Japanese National University Hospitals

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Introduction Bloodstream infections due to repeated vascular access (VA) puncture and circuit connections remain major concerns in hemodialysis. Therefore, we examined current practices for glove, disinfectant, and personal protective equipment (PPE) use according to VA type in national university hospitals in Japan.
Aiko Yamada, Makoto Harada, Tadahiko Kikugawa, Takeshi Nakata, Koji Hashimoto, Tsuneo Konta, Yuji Kamijo   +6 more
wiley   +1 more source