Results 221 to 230 of about 144,700 (293)

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

mirtronDB 2.0: enhanced database with novel mirtron discoveries. [PDF]

Bioinformatics
de Goes FR, Soares MF, Gregorio V, Nichio BTL, Chiquitto AG, Lopes FL, Basham M, Domingues DS, Paschoal AR.   +8 more
europepmc   +1 more source

A genetic risk score based on BCL11A and HBS1L‐MYB variants predicts clinical severity in Brazilian sickle cell anaemia patients

British Journal of Haematology, EarlyView.
Summary Individuals with sickle cell anaemia (SCA) exhibit significant clinical heterogeneity influenced by several factors, especially fetal haemoglobin (HbF) levels. Variations in adult HbF levels are partly explained by the co‐inheritance of genetic variants that regulate globin expression.
Gabriela S. Arcanjo, Alexsandro P. Silva, Madi V. Diniz, Igor F. Domingos, Diego A. Pereira‐Martins, Amanda B. Araújo, Talita S. S. França, Ana C. Anjos, Aderson S. Araujo, Edis Belini‐Junior, Sara T. O. Saad, Fernando F. Costa, Antonio R. Lucena‐Araujo, Marcos André C. Bezerra   +13 more
wiley   +1 more source

Introns as Protective Buffers Against Transposable Elements Invasion During Genome Gigantism in a Newt. [PDF]

Genes Cells
Bou K, Agata K.
europepmc   +1 more source

Comprehensive analysis of the mitochondrial genome in lichen genus <i>Xanthoparmelia</i>: genetic diversity, intron dynamics, and evolutionary dynamics. [PDF]

Front Microbiol
Bahenuer J, Tumur A.
europepmc   +1 more source

New biosensors and transgenic mice for multiplex cGMP imaging

British Journal of Pharmacology, EarlyView.
Background and Purpose Cyclic guanosine monophosphate (cGMP) is a versatile second messenger that is important for human (patho‐)physiology and pharmacotherapy. Live‐cell imaging of cGMP with biosensors allows to elucidate its spatiotemporal dynamics in real time under close‐to‐native conditions. However, to monitor two separate cGMP pools or cGMP/cAMP
Markus Wolters, Martin Thunemann, Barbara Birk, Susanne Feil, Viacheslav O. Nikolaev, Moritz Lehners, Robert Feil   +6 more
wiley   +1 more source

A comprehensive landscape of the <i>Gossypium arboreum</i> circRNAome under multiple abiotic stresses. [PDF]

Front Plant Sci
Fei L, Zhou Y, Huang T, Wang K.
europepmc   +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

Pre-splicing conformation and stepwise circularization of a group I intron in Azoarcus pre-tRNA. [PDF]

Nat Commun
Hong Y, Liu J, Zhang X, Liu J, Li S, Zhang K.   +5 more
europepmc   +1 more source

Intron [PDF]

, 2019
openaire   +1 more source