Results 251 to 260 of about 52,373 (299)

CNS embryonal tumour with concomitant novel BRD4::CTRC1 fusion and BCOR internal tandem duplication - evidence for synergism and non-mutually exclusive alterations in CNS embryonal tumours. [PDF]

Acta Neuropathol Commun
Aw SJ, Tan EEK, Low SYY, Kuick CH, Goh JY, Chang KTE.   +5 more
europepmc   +1 more source

Genetic risk factors in Finnish patients with Fuchs endothelial corneal dystrophy

Acta Ophthalmologica, EarlyView.
Abstract Purpose To study the genetic risk factors of Fuchs endothelial corneal dystrophy (FECD) in the Finnish population using hospital‐based and large biobank cohorts. Methods We genotyped a cohort of 107 Finnish patients with FECD for the primary associated genetic risk factor, the TCF4 (CTG)>50 expansion, and studied their clinical phenotype.
Inka‐Tuulevi Vähämäki, Annamari T. Immonen, Joel T. Rämö, Aino M. Jaakkola, Kari Krootila, Maria Kaukonen, FinnGen, Aarno Palotie, Hannes Lohi, Tero T. Kivelä, Joni A. Turunen   +10 more
wiley   +1 more source

Dystrophia Smolandiensis is characterized by a novel NQO1 variant and a distinct phenotype from COL17A1‐associated epithelial recurrent erosion dystrophy

Acta Ophthalmologica, EarlyView.
Abstract Purpose To determine the molecular cause of the two epithelial recurrent erosion dystrophies, Dystrophia Smolandiensis and Dystrophia Helsinglandica, and to identify phenotypic differences between the two conditions. Methods DNA samples and clinical data from structured interview records were obtained from the Swedish families in which ...
Karl De Geer, Kristina Lagerstedt‐Robinson, Daniel Nilsson, Cilla Söderhäll, Björn Hammar, Erik Björck   +5 more
wiley   +1 more source

Development and analytical validation of a targeted short‐read next generation sequencing‐based pharmacogenetic panel for comprehensive variant detection

British Journal of Pharmacology, EarlyView.
Abstract Background and Purpose Genomic profiling of patients for genetic variants that modify the effect of specific medications has many benefits, including the possibility of avoiding toxicities and ensuring an adequate effect of the medication. Our intention was to develop a comprehensive, high‐quality pharmacogenetic test panel for clinical use ...
Anna Gréen, Nils Johan Fredriksson, Michael Andresen, Jon Jonasson, Malin Lindqvist Appell, Henrik Gréen   +5 more
wiley   +1 more source

Identification of drug repurposing candidates for the treatment of polycystic kidney disease

British Journal of Pharmacology, EarlyView.
Background and Purpose Autosomal dominant polycystic kidney disease (ADPKD) is a leading cause of end‐stage renal disease with limited treatment options. Drug repurposing offers a promising strategy to find effective treatments. Experimental Approach We identified birinapant, bardoxolone methyl and salicylic acid as repurposing candidates for ADPKD and
Alina Meyer, Paraskevi Sotiropoulou, Koussai Bouker, Dennis Svedberg, Rebekkah Hammar, Hester Bange, Per Larsson, André Mateus, Daniel R. Dietrich, Per Artursson   +9 more
wiley   +1 more source

A Nationwide Central Diagnosis for Pediatric CNS Tumors in Japan: The JCCG Brain Tumor and Pathology Committees

Cancer Science, EarlyView.
In this report, we present the results of a nationwide initiative launched by the Japan Children's Cancer Group to provide integrated diagnoses for pediatric central nervous system (CNS) tumors, incorporating central pathological review and molecular profiling.
Yoshiko Nakano, Junko Hirato, Takako Yoshioka, Tetsuya Takimoto, Sumihito Nobusawa, Kaishi Satomi, Ran Tomomasa, Seiji Yamada, Taku Homma, Shoh Sasaki, Ayako Yamazaki, Maki Sakaguchi, Yasuhide Takeuchi, Nei Fukazawa, Kai Yamasaki, Kohei Fukuoka, Yui Shinohara Kimura, Yuki Nagayama, Yohei Inoue, Akira Miyahira, Ema Yoshioka, Asako Katsuma, Hayato Fukusumi, Tomoko Shofuda, Yuko Hibiya, Yuko Matsushita, Mai Honda Kitahara, Yuki Yomoda, Miho Kato, Michael D. Taylor, Yasuhito Arai, Tatsuhiro Shibata, Hiroaki Sakamoto, Keita Terashima, Yoshiki Arakawa, Toshihiro Kumabe, Ryo Nishikawa, Junichi Hara, Yonehiro Kanemura, Koichi Ichimura   +39 more
wiley   +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

Development of Epigenetic Modifiers with Therapeutic Potential in FMS-Related Tyrosine Kinase 3/Internal Tandem Duplication (FLT3/ITD) Acute Myeloid Leukemia and Other Blood Malignancies. [PDF]

ACS Pharmacol Transl Sci
Carullo G, Rossi S, Giudice V, Pezzotta A, Chianese U, Scala P, Carbone S, Fontana A, Panzeca G, Pasquini S, Contri C, Gemma S, Ramunno A, Saponara S, Galvani F, Lodola A, Mor M, Benedetti R, Selleri C, Varani K, Butini S, Altucci L, Vincenzi F, Pistocchi A, Campiani G.   +24 more
europepmc   +1 more source

A 19‐year‐old woman with intermittent headache and dizziness and a large temporal lobe mass

Brain Pathology, EarlyView.
Sha‐Sha Hu, Wei Yan, Bo Wang
wiley   +1 more source