Results 171 to 180 of about 47,309 (261)

Clinical and Genetic Landscape of Glioblastoma, IDH‐Wildtype With FGFR Gene Family Alterations

Cancer Science, EarlyView.
We analyzed 1076 cases of glioblastoma, IDH‐wildtype (GBM, IDH‐wt) using the C‐CAT genomic database to clarify the clinical and genetic features of FGFR alterations. FGFR::TACC fusions and FGFR1 mutations were identified in distinct subsets and were associated with unique co‐mutation patterns.
Yasuhito Kegoya, Yoshihiro Otani, Ryo Mizuta, Ryosuke Ikemachi, Mako Kamiura, Joji Ishida, Shinichi Toyooka, Daisuke Ennishi, Shuta Tomida, Shota Tanaka   +9 more
wiley   +1 more source

Pindel-TD: A Tandem Duplication Detector Based on A Pattern Growth Approach. [PDF]

Genomics Proteomics Bioinformatics
Yang X, Zheng G, Jia P, Wang S, Ye K.
europepmc   +1 more source

HTLV‐1 Tax Reshapes the DNA‐Binding Pattern of Transcription Factor IRF4 and Disrupts Host Gene Regulation

Cancer Science, EarlyView.
Proteomic mapping of Tax complexes in HTLV‐1–infected T‐cells identified IRF4 as a Tax interactor. Chromatin profiling showed Tax reprograms IRF4 occupancy with H3K27ac gains at super‐enhancers; Tax–IRF4 co‐expression altered chromatin accessibility and transcription, and ATL‐associated IRF4 mutants partially phenocopied these changes. ABSTRACT Human T‐
Shu Tosaka, Jun Mizuike, Motomu Yano, Kaoru Uchimaru, Makoto Yamagishi   +4 more
wiley   +1 more source

Population pharmacokinetic analysis of quizartinib in patients with newly diagnosed FLT3-internal-tandem-duplication-positive acute myeloid leukemia. [PDF]

Clin Transl Sci
Vaddady P, Glatard A, Smania G, Nakayama S, Inoue H, Kurumaddali A, Abutarif M, Zheng M.   +7 more
europepmc   +1 more source

Rebound Pruritus and Urticaria After Discontinuation of Chronic Antihistamine Use—A Scoping Review

Clinical &Experimental Allergy, EarlyView.
Rebound pruritus and urticaria have been reported after discontinuation of chronic cetirizine or levocetirizine use only. Symptoms typically occur within 0.5–5 days after stopping therapy and appear more frequently reported in female patients. Re‐initiation of antihistamines is the most commonly effective management strategy, highlighting the need for ...
Jun Jie Benjamin Seng, Prawira Oka, Ngiap Chuan Tan   +2 more
wiley   +1 more source

Copy Number Variants in the 11p15.5 Associated Imprinting Disorders: An Attempt to Establish a Genotype–Phenotype Correlation

Clinical Genetics, EarlyView.
Copy number variations (CNVs) in 11p15.5 account for more than 2% of the molecular disturbances in the imprinting disorders Beckwith–Wiedemann and Silver–Russell syndrome. Their size and gene content vary, and therefore the impact on the phenotype is variable. Based on published data from > 220 carriers, an overview of the pathogenicity of 11p15.5 CNVs
Anastasia Maria Licata, Elke Botzenhart, Katja Kloth‐Stachnau, Thomas Eggermann   +3 more
wiley   +1 more source

How Has the Rise of Direct‐To‐Consumer Genetic Testing Impacted Genetic Counselling Practice? A Scoping Review

Clinical Genetics, EarlyView.
This scoping review consolidated research on genetic health practitioners' (GHPs) and direct to consumer genetic testing (DTC‐GT) consumer needs and identified gaps. Thematic analysis identified four domains: GHPs' views, GHPs' perceptions of the impact of DTC‐GT on consumers, how DTC‐GT impacted services and how DTC‐GT impacted roles.
Cushla McKinney, Giselle Newton, Vaishnavi Nathan, Aideen McInerney‐Leo   +3 more
wiley   +1 more source

Concentration-QTcF analysis of quizartinib in patients with newly diagnosed FLT3-internal-tandem-duplication-positive acute myeloid leukemia. [PDF]

Clin Transl Sci
Vaddady P, Smania G, Nakayama S, Inoue H, Kurumaddali A, Abutarif M, Zheng M.   +6 more
europepmc   +1 more source

Rethinking control‐IQ+ technology: Simple strategies for easy optimization

Diabetes, Obesity and Metabolism, EarlyView.
Abstract Control‐IQ+ is an automated insulin delivery (AID) algorithm approved for people with type 1 diabetes aged 2+ years and adults aged 18+ years with type 2 diabetes. While numerous publications support improved glycaemia and quality of life for people with diabetes, this practice paper is intended to encourage uptake for healthcare professionals
Viral N. Shah, Pratik Choudhary, Ilana Halperin, Ivana Rabbone, Dessi P. Zaharieva, Laurel Messer   +5 more
wiley   +1 more source

Homozygous, Intragenic Tandem Duplication of SFTPB Causes Neonatal Respiratory Failure. [PDF]

Am J Respir Cell Mol Biol
Wambach JA, Wegner DJ, Kitzmiller J, White FV, Heins HB, Yang P, Paul AJ, Granadillo JL, Eghtesady P, Kuklinski C, Turner T, Fairman K, Stone K, Wilson T, Breman A, Smith J, Schroeder MC, Neidich JA, Whitsett JA, Cole FS.   +19 more
europepmc   +1 more source