Results 161 to 170 of about 757,384 (292)
SHAPE Profiling to Probe Group II Intron Conformational Dynamics During Splicing. [PDF]
Methods Mol Biol, 2021 Wiryaman T, Toor N.
europepmc +1 more source
Studies of Point Mutants Define Three Essential Paired Nucleotides in the Domain 5 Substructure of a Group II Intron [PDF]
, 1995 Scott C. Boulanger +5 more
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Advanced Science, EarlyView.Compared with those on the pTi surface, macrophages on the TNTs surface present reduced myosin II contractility, which facilitates the nuclear translocation of the UTX. This reduction decreases the enrichment of the repressive H3K27me3 histone modification at the Abca1 gene locus, which promotes the transcription and protein expression of ABCA1 ...
Hengji Jia +8 more
wiley +1 more source
American Journal of Botany, EarlyView.Abstract Premise Species complexes are groups of closely related species with ambiguous delimitation, often composed of recently diverged lineages. Polyploidization and uniparental reproduction (i.e., selfing and apomixis) can play important roles in the origin of species complexes. These complexes pose challenges for species‐based scientific questions,
Anne‐Sophie Quatela +7 more
wiley +1 more source
A map of the binding site for catalytic domain 5 in the core of a group II intron ribozyme [PDF]
, 1998 Boyana Konforti +2 more
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Detecting the Difficult: An Intronic NPC1 Variant Hiding in Plain Sight
American Journal of Medical Genetics Part A, Volume 197, Issue 7, July 2025.ABSTRACT An illustration of the importance of manual data review for identifying rare intronic variants adjacent to homopolymers is presented here. A 14‐year‐old male with Niemann‐Pick Type C disease confirmed biochemically was only found to have a heterozygous pathogenic variant by molecular analysis. A manual review of the Next Generation Sequencing (
Caroline Gully Brown +6 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione +12 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Inherited retinal dystrophies (IRDs) inherited are visually disabling monogenic diseases with remarkable genetic and phenotypic heterogeneity. Mutations in more than 300 different genes have been identified as disease‐causing. The genetic diagnosis of IRDs has significantly advanced with the integration of Next Generation Sequencing (NGS ...
Gerardo E. Fabian‐Morales +6 more
wiley +1 more source
Homing of a bacterial group II intron with an intron‐encoded protein lacking a recognizable endonuclease domain [PDF]
, 2000 Francisco Martínez‐Abarca +2 more
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Genomics Review of Selective RET Inhibitors Sensitivity in Thyroid Cancer Clinical Trials
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT RET gene is a driver of thyroid cancer (TC) tumorigenesis. The incidence of TC has increased worldwide in the last few decades, both in medullary and follicular‐derived subtypes. Several drugs, including multikinase and selective inhibitors, have been explored.
Sara Gil‐Bernabé +5 more
wiley +1 more source