Genetics articles for United Kingdom (UK)

Time frame: 1 June 2025 - 30 May 2026

View topic

Count: 170

Article ‘Count’ for Genetics.

Journal Count Share
4 1.36
Genome-wide detection of human 5′ UTR variants that impact protein translation 0.18
Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia 0.74
Maternal age and genome-wide failure of meiotic recombination are associated with triploid conceptions in humans 0.28
Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders 0.16
3 2.30
Sequence-Encoded Frustration Directs the Formation of Abridged G-Quadruplex Architectures 1.00
Glycoconjugated Metallohelices Eliminate Cancer Stem‐Like Cells via Modulating G‐Quadruplex Surrounding Transcriptional Start Site of Sox2 Gene 0.30
Supramolecular Recognition of a DNA Four-Way Junction by an M2L4 Metallo-Cage, Inspired by a Simulation-Guided Design Approach 1.00
2 0.49
The Age at Onset of LRRK2 p.Gly2019Ser Parkinson's Disease Across Ancestries and Countries of Origin 0.07
Biallelic Truncating Variants in SCN3B Encoding Nav Channel Subunit β3 Lead to Neurodevelopmental Phenotype with and without Epilepsy and Ataxia 0.42
1 0.88
Transposable elements as novel therapeutic targets for PARPi-induced synthetic lethality in PcG mutated blood cancer 0.88
3 0.23
Long-read sequencing identifies FGF14 repeat expansions in Parkinson’s disease 0.07
Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder 0.04
Biallelic iLGI1/i and iADAM23/i variants cause hippocampal epileptic encephalopathy via the LGI1–ADAM22/23 pathway 0.12
1 0.04
Dynamic and Ongoing De Novo L1 Retrotransposition Contributes to Genome Plasticity and Intrapatient Heterogeneity in Ovarian Cancer. 0.04
3 1.73
Genome instability triggers intercellular DNA transfer between human cells 0.06
Zebrafish use spectral information to suppress the visual background 0.67
Replisome passage through the cohesin ring 1.00
1 1.00
Platinum-based phosphorescent lifetime probes for the visualisation of G-quadruplex DNA in cells 1.00
1 0.09
DAPK2 Regulates PKM2 Phosphorylation at Threonine 45 to Facilitate Disturbed Flow-Induced Atherosclerosis. 0.09
7 3.46
Replicated repurposing of an ancestral transcriptional complex in land plants 1.00
Initiation of asexual reproduction by the AP2/ERF gene GEMMIFER in Marchantia polymorpha 0.33
Mechanosensitive feedback organizes cell shape and motion during hindbrain neuropore morphogenesis 0.31
X chromosome dosage in respiratory stem cells is critical for post-embryonic development and survival 0.25
The B-class auxin response factor MpARF2 is essential for meristem organization in free-living plant gametophytes 0.07
A genetic circuit that extends the useful range of a BMP morphogen arose alongside insect wing evolution 0.75
Revised evolutionary relationships within Brachycera and the early origin of bicoid in flies 0.75
2 0.67
Adhesion-controlled mechanics of the glial niche regulate neural stem cell proliferative potential 0.08
Signaling-dependent refinement of cell fate choice during tissue remodeling in Drosophila pupal wings 0.59
2 1.11
Chromatin binding and N-terminal domains of DNMT3B1 confer specificity for developmentally regulated CpG island methylation 1.00
Dominant-negative effects of Weaver syndrome-associated EZH2 variants 0.11
2 1.29
Mapping and quantifying nascent transcript start sites using TT-TSS-seq 1.00
Epigenomics of embryogenesis in turbot 0.29
1 0.01
Bridging the Scales via Personalized Cellular Modeling and Deep Phenotyping in Schizophrenia 0.01
1 0.14
CNTD1 is crucial for crossover formation in female meiosis and for establishing the ovarian reserve 0.14
1 0.19
Somatic mutations in TBX3 promote hepatic clonal expansion by accelerating VLDL secretion 0.19
5 3.82
IFI16 senses and protects stalled replication forks 0.81
The DNA replication checkpoint limits Okazaki fragment accumulation to protect and restart stalled forks 1.00
The DNA replication checkpoint prevents PCNA/RFC depletion to protect forks from HLTF-induced collapse in human cells 1.00
CRAMP1 drives linker histone expression to enable Polycomb repression 0.79
A specific form of cPRC1 containing CBX4 is co-opted to mediate oncogenic gene repression in diffuse midline glioma 0.22
9 3.68
Assessing the de novo paradigm in sporadic early-onset Alzheimer disease trios 0.10
Elevated microbially-derived metabolites in autism: a possible diagnostic screening test for a distinct ASD phenotype 0.09
Genome-wide tandem repeat expansions modify schizophrenia risk in the presence of a 22q11.2 deletion 0.04
Analysis of rare coding variants in schizophrenia-associated genes and generalised cognition in the UK Biobank 1.00
Splitting schizophrenia: divergent cognitive and educational outcomes revealed by genomic structural equation modelling 0.97
“ deficiency alters early progenitor dynamics and reveals shared pathways with neurodegeneration” 0.06
Interactive effects of genotype with prenatal stress on DNA methylation at birth 0.30
Effect sizes of APOE e4 on the same general cognitive ability test taken by the same people from age 11 to age 90: The Lothian Birth Cohorts 1921 and 1936 1.00
Association between polygenic risk for Major Depression and brain structure in a mega-analysis of 50,975 participants across 11 studies 0.11
9 3.99
An X-linked long non-coding RNA, PTCHD1-AS, and the core features of autism 0.01
Expanding the human proteome with microproteins and peptideins 0.24
DNA damage burden causes selective CUX2 neuron loss in neuroinflammation 0.36
Four camera-type eyes in the earliest vertebrates from the Cambrian Period 0.36
A nowhere-to-hide mechanism ensures complete piRNA-directed DNA methylation 0.97
CRISPR activation for SCN2A-related neurodevelopmental disorders 0.01
DNA2 enables growth by restricting recombination-restarted replication 1.00
Excised DNA circles from V(D)J recombination promote relapsed leukaemia 1.00
Mechanism of cytarabine-induced neurotoxicity 0.04
1 0.06
RNA structure modulates Cas13 activity and enables mismatch detection 0.06
3 1.82
Escape from X inactivation is directly modulated by Xist noncoding RNA 0.02
A comprehensive tRNA pseudouridine map uncovers targets dependent on human stand-alone pseudouridine synthases 1.00
Hbo1 and Msl complexes preserve differential compaction and H3K27me3 marking of active and inactive X chromosomes during mitosis 0.80
1 0.83
KDM3A catalyses the oxidation of acetyl-lysine to hydroxyacetyl-lysine on histone H3K9 0.83
39 18.39
Initial leukemic epigenomic state determines hypomethylating agent response 0.08
Two structurally mobile regions control the conformation and function of metamorphic meiotic HORMAD proteins 1.00
m6A modification suppresses innate anti-tumour immunity in colorectal cancer by limiting alu-derived dsRNA accumulation 0.62
A molecular stabiliser of an inhibitory eIF2B-eIF2(αP) complex activates the Integrated Stress Response 0.54
Crystallized and fluid cognitive abilities have different genetic associations with neuropsychiatric disorders 0.43
MeCP2 requires interactions with nucleosome linker DNA to read chromatin DNA methylation 1.00
The genetic basis for DNA methylation variation across tissues and development 0.06
SETDB1 and HUSH modulate Xist RNA levels during establishment of X chromosome inactivation 1.00
Genetic architecture of sleep in a genome wide association study of device measured sleep traits 1.00
RNA functional modulation by Mitoxantrone via RNA structural ensemble repartitioning 0.17
Brachiopod genome unveils the evolution of BMP signalling in bilaterian body patterning 0.08
Gene expression dynamics of human and mouse craniofacial development at the single-cell level 0.22
Disruption of tRNA threonylation triggers RIG-I mediated anti-tumour immune response 0.13
Coronaviruses reprogram the tRNA epitranscriptome to favor viral protein expression 0.40
ATRX loss couples genome instability at a G-rich repeat to dysregulation of human alpha-globin expression 1.00
Sequencing DNA methylation and hydroxymethylation at co-occurring chromatin features 1.00
Meta-unstable mRNAs in activated CD8 T cells are defined by interlinked AU-rich elements and mA mRNA methylation 0.29
Dynamic allele usage of X-linked genes ameliorates neurodevelopmental disease phenotypes in brain organoids 0.05
A SET domain-containing protein and HCF-1 maintain transgenerational epigenetic memory 0.73
Cryo-EM structures of NHEJ assemblies with nucleosomes 0.62
Pre-marking chromatin with H3K4 methylation is required for accurate zygotic genome activation and development 0.15
Cell type-specific functions of the PBAF chromatin-remodeling complex in neuronal diversification 0.14
Structure of the 30S translation initiation complex coupled to paused RNA polymerase and its potential for riboregulation 0.71
CIP2A mediates mitotic recruitment of SLX4/MUS81/XPF to resolve replication stress-induced DNA lesions 0.07
The CIP2A-TOPBP1 axis facilitates mitotic DNA repair via MiDAS and MMEJ 0.91
Convergent flow-mediated mesenchymal force drives embryonic foregut constriction and splitting 0.10
H3K4me2 orchestrates H2A.Z and Polycomb repressive marks in Arabidopsis 0.07
Rescuing the bacterial replisome at a nick requires recombinational repair and helicase reloading 1.00
Young KRAB-zinc finger gene clusters are highly dynamic incubators of ERV-driven genetic heterogeneity in mice 0.23
DirectRM: integrated detection of landscape and crosstalk between multiple RNA modifications using direct RNA sequencing 0.21
Enhancing cap-independent translation of linear mRNA 1.00
SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder 0.03
Sex-stratified genome-wide association meta-analysis of major depressive disorder 0.30
NSUN2 facilitates DICER cleavage of DNA damage-associated R-loops to promote repair 1.00
REST/NRSF Preserves muscle stem cell identity by repressing alternate cell fate 0.07
METTL9 sustains vertebrate neural development primarily via non-catalytic functions 0.23
Autocrine interferon poisoning mediates ADAR1-dependent synthetic lethality in BRCA1/2-mutant cancers 0.21
The human RIF1-Long isoform interacts with BRCA1 to promote recombinational fork repair under DNA replication stress 0.80
USP37 prevents premature disassembly of stressed replisomes by TRAIP 0.75
6 1.30
Biallelic variants in cause a remarkably frequent developmental and epileptic encephalopathy 0.53
Genome-wide association analyses highlight the role of the intestinal molecular environment in human gut microbiota variation 0.09
Genetics and environment distinctively shape the human immune cell epigenome 0.04
Adenine DNA methylation associated with transcriptionally permissive chromatin is widespread across eukaryotes 0.57
Pathogenic variants cause a neurodevelopmental syndrome by impairing synaptic function 0.02
Single-nucleus chromatin accessibility profiling identifies cell types and functional variants contributing to major depression 0.05
2 0.16
APOE ε4 carriers share immune-related proteomic changes across neurodegenerative diseases 0.08
The UBE3A-ATS antisense oligonucleotide rugonersen in children with Angelman syndrome: a phase 1 trial 0.08
1 0.15
Single-cell multi-omic detection of DNA methylation and histone modifications reconstructs the dynamics of epigenomic maintenance 0.15
1 0.09
Autism subtypes identified using cross-species functional connectivity analyses 0.09
1 0.80
Scaling and self-similarity in the formation of the embryonic epigenome 0.80
3 2.67
m6A and the NEXT complex direct Xist RNA turnover and X-inactivation dynamics 1.00
Structural basis of RECQL5-induced RNA polymerase II transcription braking and subsequent reactivation 1.00
Binding of heterochromatin protein Rhino to a subset of piRNA clusters depends on a combination of two histone marks 0.67
4 1.86
Genetic parallelism underpins convergent mimicry coloration in Lepidoptera across 120 million years of evolution 0.43
Biased sampling driven by bacterial population structure confounds machine learning prediction of antimicrobial resistance 0.33
Bacterial gene 5′ ends have unusual mutation rates that can mislead tests of selection 0.88
Genetic variation influences food-sharing sociability in honey bees 0.22
9 4.68
Constitutively active RAS prolongs Cdc42 signalling, while MAPK signalling is attenuated during fission yeast mating 0.58
DNMT1 loss leads to hypermethylation of a subset of late replicating domains by DNMT3A 1.00
Expanding the fly eye gene regulatory network: From Drosophila to the hoverfly Episyrphus balteatus 0.10
Disruption of the mRNA m6A writer complex triggers autoimmunity in Arabidopsis 1.00
Loss of meiotic double strand breaks triggers recruitment of recombination-independent pro-crossover factors in C. elegans spermatogenesis 0.22
Probing the molecular determinants of Ty1 retrotransposon restriction specificity in yeast 0.33
From paleness to albinism: Contribution of OCA2 exon 10 skipping to hypopigmentation 0.29
Epigenome and transcriptome changes in KMT2D-related Kabuki syndrome Type 1 iPSCs, neuronal progenitors and cortical neurons 1.00
Ubinuclein 2 is essential for mouse development and functions in X chromosome inactivation 0.17
1 0.50
Joint Distribution of Nuclear and Cytoplasmic mRNA Levels in Stochastic Models of Gene Expression: Analytical Results and Parameter Inference 0.50
20 9.45
Chinmo defines the region-specific oncogenic competence in the Drosophila central nervous system 0.17
Genome-wide CG hypomethylation of the Arabidopsis ecotype Cvi linked to structural variation and RNAi at the VIM4–VIM2 locus 0.13
MHC-I diversity enables rapid adaptation during a viral pandemic in wild rabbit populations 0.70
3D epithelial cell topology tunes signaling range to promote precise patterning 1.00
Epigenetic constraints and enhancer innovation link neuronal plasticity to evolutionary adaptation 0.19
Germline fate determination by a single ARGONAUTE protein in Ectocarpus 0.07
Molecular architecture and diversity of StopGo/2A translational recoding 0.56
The variability of evolvability: Properties of dynamic fitness landscapes determine how phenotypic variability evolves 0.20
CDCA7 facilitates MET1-mediated CG DNA methylation maintenance in centromeric heterochromatin via linker histone H1 0.30
Systematic analysis of noncanonical ribosomal protein paralogs does not provide evidence for specialized functions in Drosophila 1.00
Mouse X-linked microRNA cluster regulates the meiotic checkpoint and Prdm9-driven hybrid sterility in a copy number–dependent manner 0.06
RNA triple helix assembled by the poly(A) tail enhances retrotransposon mobilization by preventing RNA deadenylation 0.42
Protein-mediated stabilization and nicking of the nontemplate DNA strand dramatically affect R-loop formation in vitro 0.33
Pseudouridine prevalence in Kaposi’s sarcoma–associated herpesvirus transcriptome reveals an essential mechanism for viral replication 0.92
Adaptation of seed dormancy to maternal climate occurs via intergenerational transport of abscisic acid 0.94
Ovarian germline stem cell dedifferentiation is cytoneme dependent 0.86
ITAF45 is a pervasive trans-acting factor for picornavirus Type II IRES elements 0.18
SCoTCH-seq reveals that 5-hydroxymethylcytosine encodes regulatory information across DNA strands 1.00
A preclinical pig model of Angelman syndrome mirrors the early developmental trajectory of the human condition 0.11
Global kinetic model of lipid-induced α-synuclein aggregation and its inhibition by small molecules 0.33
3 2.15
Limits to behavioural plasticity in tropical paper wasps 1.00
Metabolic consequences of naturally occurring mitochondrial heteroplasmy in bivalves 0.25
Rewired gene interactions during evolution of the analia and genitalia in Drosophila 0.90
4 0.50
Multiple chromosomal inversions modulate continuous local adaptation along a steep thermal cline 0.06
Concurrent L1 retrotransposition events promote reciprocal translocations in human tumorigenesis 0.07
Transposable elements are vectors of recurrent transgenerational epigenetic inheritance 0.03
Introgression dynamics of sex-linked chromosomal inversions shape the Malawi cichlid radiation 0.34
9 4.46
Schizophrenia risk gene ZNF804A controls ribosome localization and synaptogenesis in developing human neurons 0.88
Autism-like phenotypes and increased NMDAR2D expression in mice with KDM5B histone lysine demethylase deficiency 0.78
Cell cycle oscillations in a polarity network facilitate state switching by morphogenetic cues 0.88
Slow RNAPII elongation enhances naive pluripotency rewiring while maintaining high replication fork speed 0.07
Morphogenesis of moss leaf-like organs through variations in deeply shared developmental principles 0.18
The evolution of cheaper workers facilitated larger societies and accelerated diversification in ants 0.06
CRISPRa-mediated disentanglement of the Dux-MERVL axis in the 2C-like state, totipotency, and cell death 0.69
Loss of histone macroH2A1.1 causes kidney abnormalities secondary to a change in nutrient metabolization 0.02
Sensing of extracellular l-proline availability by the integrated stress response determines the outcome of cell competition 0.90
3 0.39
Autoinhibitory feedback preserves intestinal stem cell maintenance and fate commitment 0.03
A mammalian-like piRNA pathway in Axolotl reveals the origins of piRNA-directed DNA methylation 0.19
Co-evolving infectivity and expression patterns drive the diversification of endogenous retroviruses 0.17
1 0.10
Small RNA directed DNA methylation by Pol IV and Pol V maintains immune homeostasis in soybean 0.10

Numerical information only (in the tables above) is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International.