Genetics & Heredity: Latest Papers

27

Jul

2024

Histidine Kinase QseC in Glaesserella parasuis Enhances the Secretion of Proinflammatory Cytokines by Macrophages via the p38 and NF-κB Signaling Path

DNA and Cell Biology

27

Jul

2024

Synaptotagmin 13 Could Drive the Progression of Esophageal Squamous Cell Carcinoma Through Upregulating ACRV1

DNA and Cell Biology

27

Jul

2024

Genome editing of mammalian cells through RNA transcript-mediated homologous recombination repair

Human Gene Therapy

27

Jul

2024

Improving the assessment of risk factors relevant to potential carcinogenicity of gene therapies: a consensus paper

Human Gene Therapy

27

Jul

2024

Innate Immune Sensing of Adeno-Associated Virus Vectors

Human Gene Therapy

27

Jul

2024

Intra-articular delivery of an AAV-anti-TNF-α vector alleviates the progress of arthritis in a RA mouse model

Human Gene Therapy

26

Jul

2024

Correction: Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literature

European Journal of Human Genetics

26

Jul

2024

Are employees ready to engage in genetic cancer risk assessment in the workplace setting?

European Journal of Human Genetics

26

Jul

2024

Characterization of brain transduction capability of a BBB-penetrant AAV vector in mice, rats and macaques reveals differences in expression profiles Gold Open Access

Gene Therapy

26

Jul

2024

Gene drives: an alternative approach to malaria control? Gold Open Access

Gene Therapy

26

Jul

2024

Integration of CTCF loops, methylome, and transcriptome in differentiating LUHMES as a model for imprinting dynamics of the 15q11-q13 locus in human n Gold Open Access

Human Molecular Genetics

26

Jul

2024

Enhancers on the edge — how the nuclear envelope controls gene regulatory elements Gold Open Access

Current Opinion in Genetics & Development

26

Jul

2024

A new era in neuromuscular junction research: current advances in self-organized and assembled in vitro models Gold Open Access

Current Opinion in Genetics & Development

26

Jul

2024

Structural variation in humans and our primate kin in the era of telomere-to-telomere genomes and pangenomics Gold Open Access

Current Opinion in Genetics & Development

26

Jul

2024

Single-cell genomic profiling to study regeneration Gold Open Access

Current Opinion in Genetics & Development

26

Jul

2024

Marvels of spiny mouse regeneration: cellular players and their interactions in restoring tissue architecture in mammals Gold Open Access

Current Opinion in Genetics & Development

26

Jul

2024

A critical role for X-chromosome architecture in mammalian X-chromosome dosage compensation Gold Open Access

Current Opinion in Genetics & Development

26

Jul

2024

Role of RNA modifications in cancer metastasis

Current Opinion in Genetics & Development

26

Jul

2024

Correction: Real-time imaging of TRAIL-induced apoptosis of glioma tumors in vivo

Oncogene

26

Jul

2024

A novel Nav1.5-dependent feedback mechanism driving glycolytic acidification in breast cancer metastasis Gold Open Access

Oncogene

26

Jul

2024

Editorial Expression of Concern: Generation of TRAIL-resistant cell line models reveals distinct adaptive mechanisms for acquired resistance and re-se

Oncogene

26

Jul

2024

Correction: Notch3-regulated microRNAs impair CXCR4-dependent maturation of thymocytes allowing maintenance and progression of T-ALL

Oncogene

26

Jul

2024

MicroRNAs role in telomere length maintenance and telomerase activity in tumor cells

Journal of Molecular Medicine-Jmm

26

Jul

2024

Structure-based humanization of a therapeutic antibody for multiple myeloma Gold Open Access

Journal of Molecular Medicine-Jmm

26

Jul

2024

HADHA promotes glioma progression by accelerating MDM2-mediated p53 ubiquitination

Cancer Gene Therapy

26

Jul

2024

Therapeutic activity of retroviral replicating vector-mediated gene therapy in combination with anti-PD-1 antibody in a murine pancreatic cancer model

Cancer Gene Therapy

26

Jul

2024

Atypical phosphatase DUSP11 inhibition promotes nc886 expression and potentiates gemcitabine-mediated cell death through NF-kB modulation

Cancer Gene Therapy

26

Jul

2024

Atypical cellular responses mediated by intracellular constitutive active TrkB (NTRK2) kinase domains and a solely intracellular NTRK2-fusion oncogene Gold Open Access

Cancer Gene Therapy

26

Jul

2024

Pathophysiological role of ion channels and transporters in hepatocellular carcinoma Gold Open Access

Cancer Gene Therapy

26

Jul

2024

SUMO promotes DNA repair protein collaboration to support alternative telomere lengthening in the absence of PML

Genes & Development

26

Jul

2024

Tolerance thresholds underlie responses to DNA damage during germline development

Genes & Development

26

Jul

2024

Comparing the roles of sex chromosome-encoded protein homologs in gene regulation

Genes & Development

26

Jul

2024

De novo genome assembly and functional insights of the first commercial pink Auricularia cornea Gold Open Access

Genomics

26

Jul

2024

Identification of differentially expressed genes in the medial prefrontal cortex of rats subjected to chronic unpredictable mild stress and treated wi Gold Open Access

Genomics

26

Jul

2024

Integrated morphological, physiological and transcriptomic analyses reveal the responses of Toona sinensis seedlings to low-nitrogen stress Gold Open Access

Genomics

26

Jul

2024

Deciphering cellular heterogeneity in Spodoptera frugiperda midgut cell line through single cell RNA sequencing Gold Open Access

Genomics

26

Jul

2024

Genomic binding of NF-Y in mouse and human cells Gold Open Access

Genomics

26

Jul

2024

Comparative Genomic and Phylogenetic Analysis of the Complete Mitochondrial Genome of Cricula trifenestrata (Helfer) Among Lepidopteran Insects

Genome

26

Jul

2024

PhyloAln: a convenient reference-based tool to align sequences and high-throughput reads for phylogeny and evolution in the omic era Gold Open Access

Molecular Biology and Evolution

26

Jul

2024

Exploring the origins and evolution of oxygenic and anoxygenic photosynthesis in deeply branched Cyanobacteriota Gold Open Access

Molecular Biology and Evolution

26

Jul

2024

Improving the accuracy of bulk fitness assays by correcting barcode processing biases Gold Open Access

Molecular Biology and Evolution

26

Jul

2024

Experimental evolution in a warming world – the omics era Gold Open Access

Molecular Biology and Evolution

26

Jul

2024

Prostate cancer and the cell cycle: Focusing on the role of microRNAs

Gene

26

Jul

2024

Genomic inbreeding analysis reveals resilience and genetic diversity in Indian yak populations

Gene

26

Jul

2024

Hereditary coagulation factor VII deficiency caused by novel compound heterozygous mutations c.572-1G>A and c.1037A>C in a Chinese pedigree

Gene

26

Jul

2024

The transcription factors HNF-4α and NF-κB activate the CDO gene to promote taurine biosynthesis in the golden pompano Trachinotus ovatus (Linnaeus 17

Gene

26

Jul

2024

Editorial Board

Gene

26

Jul

2024

The molecular phylogeny of Caenogastropoda (Mollusca, Gastropoda) based on mitochondrial genomes and nuclear genes

Gene

26

Jul

2024

Non-invasive determination of gene expression in placental tissue using maternal plasma cell-free DNA fragmentation characters

Gene

26

Jul

2024

Exploring the innate immune system of Urechis unicinctus: Insights from full-length transcriptome analysis

Gene

26

Jul

2024

QAFI: a novel method for quantitative estimation of missense variant impact using protein-specific predictors and ensemble learning Gold Open Access

Human Genetics

26

Jul

2024

Long non-coding RNAs: recent insights, remaining challenges, and exciting new directions

Human Genetics

25

Jul

2024

Indigenous Peoples provide alternative approaches to managing biological invasions

Trends in Ecology & Evolution

25

Jul

2024

A tribute to Bill Pak, unsung hero of neurogenetics

Journal of Neurogenetics

25

Jul

2024

The natural history of dihydrolipoamide dehydrogenase deficiency in Israel Gold Open Access

Journal of Inherited Metabolic Disease

25

Jul

2024

Assessment of urinary 6‐oxo‐pipecolic acid as a biomarker for ALDH7A1 deficiency Gold Open Access

Journal of Inherited Metabolic Disease

25

Jul

2024

Comparative Characteristics of Abnormal Karyotypes in Secondary Acute Leukemia

Cytology and Genetics

25

Jul

2024

Creation of Heme and Hemoglobin Producers Based on Microorganisms

Cytology and Genetics

25

Jul

2024

Role of MicroRNA Modulated Wnt Pathway in Breast Cancer and Its Therapeutic Use

Cytology and Genetics

25

Jul

2024

Erratum to: An Optimized Protocol of Electroporation of Hepatocyte Nuclear Factor 1 Alpha (Hnf-1α) in Mesenchymal Stem Cells

Cytology and Genetics

25

Jul

2024

A Comprehensive Review on Liver Regeneration Termination: A Non-Neglectable Phase

Cytology and Genetics

25

Jul

2024

Cytological Assessment of Gamma Induced Multiple Translocation Heterozygote in Sowa (Anethum graveolens L.)

Cytology and Genetics

25

Jul

2024

Effect of the Secretome of Mesenchymal Placenta Stem Cells on the Functional Properties of Lewis Lung Carcinoma Cells In Vitro

Cytology and Genetics

25

Jul

2024

Genome-Wide Identification of SNPs and Their Annotation in Indian Gir Cattle

Cytology and Genetics

25

Jul

2024

How Effective are leptin Gene Polymorphisms and Methylation during the Course of Multiple Myeloma?

Cytology and Genetics

25

Jul

2024

Ligand-Induced Variability of the FtsZ Protein Interdomain Site Pocket

Cytology and Genetics

25

Jul

2024

Bioinformatic analysis predicts the regulatory function of noncoding SNPs associated with Long COVID-19 syndrome

Immunogenetics

25

Jul

2024

Cytogenetic identification and molecular mapping for the wheat-Thinopyrum ponticum introgression line with resistance to Fusarium head blight

Theoretical and Applied Genetics

25

Jul

2024

Using machine learning to combine genetic and environmental data for maize grain yield predictions across multi-environment trials Gold Open Access

Theoretical and Applied Genetics

25

Jul

2024

Feature engineering and parameter tuning: improving phenomic prediction ability in multi-environmental durum wheat breeding trials Gold Open Access

Theoretical and Applied Genetics

25

Jul

2024

Mining for QTL controlling maize low-phosphorus response genes combined with deep resequencing of RIL parental genomes and in silico GWAS analysis

Theoretical and Applied Genetics

25

Jul

2024

Saikosaponin-d Mediates FOXG1 to Reverse Docetaxel Resistance in Prostate Cancer through Oxidative Phosphorylation

Mutation Research-Fundamental and Molecular Mechanisms of Mutagenesis

24

Jul

2024

Multiple karyotype differences between populations of the Hoplias malabaricus (Teleostei; Characiformes), a species complex in the gray area of the sp

Heredity

24

Jul

2024

Assessment of Pathogenic Variants in the PAH Gene and Genotype–Phenotype Correlation in Phenylketonuria Patients from Turkey

Biochemical Genetics

24

Jul

2024

Knockdown of CPSF4 Inhibits Bladder Cancer Cell Growth by Upregulating NRF1

Biochemical Genetics

24

Jul

2024

Forensic Characterization, Genomic Variability and Ancestry Analysis of Six Populations from Odisha Using mtDNA SNPs and Autosomal STRs

Biochemical Genetics

24

Jul

2024

Identification of N6-Methyladenosine-Associated lncRNAs and Analysis of Prognostic Signature in Breast Cancer

Biochemical Genetics

24

Jul

2024

Association of PLCE1 (rs7922612) and COL4A3 (rs375290088) Genetic Variants with the Risk of Nephrotic Syndrome in Egyptian Pediatric Patients

Biochemical Genetics

24

Jul

2024

Ornaments for efficient allele-specific expression estimation with bias correction

American Journal of Human Genetics

24

Jul

2024

De novo missense variants in HDAC3 leading to epigenetic machinery dysfunction are associated with a variable neurodevelopmental disorder Gold Open Access

American Journal of Human Genetics

24

Jul

2024

Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpre Gold Open Access

American Journal of Human Genetics

24

Jul

2024

Linking landscape habitats with prevalence of fusarium wilt disease of cashew crop in Tanzania Gold Open Access

BMC Ecology and Evolution

24

Jul

2024

The pillars of the sea: strategies to achieve successful marine citizen science programs in the Mediterranean area Gold Open Access

BMC Ecology and Evolution

24

Jul

2024

First complete mitochondrial genome of Pselliophora (Diptera, Tipulidae): genome description and phylogenetic implications Gold Open Access

Mitochondrial DNA Part B-Resources

24

Jul

2024

Early Peripheral Nerve Involvement at the Time of Coughing in Patients With RFC1 Intronic Expansion

Neurology-Genetics

24

Jul

2024

ApoL1 risk allele accelerates high-fat diet-induced atherosclerosis in LDLR−/− hamsters Gold Open Access

Genes & Diseases

24

Jul

2024

CCDC178-mediated cytoskeleton assembly is required for spermiogenesis in mice Gold Open Access

Genes & Diseases

24

Jul

2024

Glucose‐6‐phosphate dehydrogenase deficiency as a cause for nonimmune hydrops fetalis and severe fetal anemia: A systematic review Gold Open Access

Molecular Genetics & Genomic Medicine

24

Jul

2024

Prenatal diagnosis and genetic study of 22q11.2 microduplication in Chinese fetuses: A series of 31 cases and literature review Gold Open Access

Molecular Genetics & Genomic Medicine

24

Jul

2024

Mutated neuron navigator 3 as a candidate gene for a rare neurodevelopmental disorder Gold Open Access

Molecular Genetics & Genomic Medicine

24

Jul

2024

Characterization of Mycobacteriophage Adephagia Cytotoxic Proteins Gold Open Access

G3-Genes Genomes Genetics

24

Jul

2024

A random mutagenesis screen enriched for missense mutations in bacterial effector proteins Gold Open Access

G3-Genes Genomes Genetics

24

Jul

2024

Chromosome-scale genome assembly of the Hunt bumble bee, Bombus huntii Greene, 1860, a species of agricultural interest

G3-Genes Genomes Genetics

24

Jul

2024

Genomic prediction of regional-scale performance in switchgrass (Panicum virgatum) by accounting for genotype-by-environment variation and yield surro Gold Open Access

G3-Genes Genomes Genetics

24

Jul

2024

Functional and regulatory diversification of Period genes responsible for circadian rhythm in vertebrates Gold Open Access

G3-Genes Genomes Genetics

24

Jul

2024

QTL discovery for agronomic and quality traits in diploid potato clones using PotatoMASH amplicon sequencing Gold Open Access

G3-Genes Genomes Genetics

24

Jul

2024

A chromosome-level genome assembly of Drosophila madeirensis, a fruit fly species endemic to the island of Madeira Gold Open Access

G3-Genes Genomes Genetics

24

Jul

2024

Diagnosis of Two Unrelated Syndromes of Prader-Willi and Calpainopathy: Insight from Trio Whole Genome Analysis and Isodisomy Mapping Gold Open Access

Genes

24

Jul

2024

Hepatopancreas Transcriptome Analysis of Spinibarbus sinensis to Reveal Different Growth-Related Genes Gold Open Access

Genes

24

Jul

2024

The Missense Variant in the Signal Peptide of α-GLA Gene, c.13 A/G, Promotes Endoplasmic Reticular Stress and the Related Pathway’s Activation Gold Open Access

Genes

24

Jul

2024

Dissecting the Genetic Architecture of Morphological Traits in Sunflower (Helianthus annuus L.) Gold Open Access

Genes

24

Jul

2024

Transcriptome Analysis Reveals Genes and Pathways Associated with Drought Tolerance of Early Stages in Sweet Potato (Ipomoea batatas (L.) Lam.) Gold Open Access

Genes

24

Jul

2024

Expression Patterns of TGF-β1, TβR-I, TβR-II, and Smad2 Reveal Insights into Heterosis for Growth of Hybrid Offspring between Acanthopagrus schlegelii Gold Open Access

Genes

24

Jul

2024

Five centuries of genome evolution and multi-host adaptation of Campylobacter jejuni in Brazil Gold Open Access

Microbial Genomics

24

Jul

2024

The hidden RNA viruses in Blattodea (cockroaches and termites) Gold Open Access

Microbial Genomics

24

Jul

2024

Geographical distribution, disease association and diversity of Klebsiella pneumoniae K/L and O antigens in India: roadmap for vaccine development Gold Open Access

Microbial Genomics

24

Jul

2024

Adult sex change leads to extensive forebrain reorganization in clownfish Gold Open Access

Biology of Sex Differences

24

Jul

2024

Sex differences in the social motivation of rats: Insights from social operant conditioning, behavioural economics, and video tracking Gold Open Access

Biology of Sex Differences

23

Jul

2024

Genetic Polymorphism of Interleukin-6 in Asymptomatic and ICU-Admitted COVID-19 Patients in Sulaymaniyah Province, Kurdistan Region of Iraq

Genetic Testing and Molecular Biomarkers

23

Jul

2024

The Association between Obesity Susceptibility and Polymorphisms of MC4R, SH2B1, and NEGR1 in Tibetans

Genetic Testing and Molecular Biomarkers

23

Jul

2024

Integrating GWAS with a gene co‐expression network better prioritizes candidate genes associated with root metaxylem phenes in maize Gold Open Access

Plant Genome

23

Jul

2024

Development and implementation of nested single‐nucleotide polymorphism (SNP) assays for breeding and genetic research applications Gold Open Access

Plant Genome

23

Jul

2024

Increased frequency of infections and autoimmune disease in adults with PTEN Hamartoma Tumour Syndrome Gold Open Access

European Journal of Medical Genetics

23

Jul

2024

Plethora of new marsupial genomes informs our knowledge of marsupial MHC class II Gold Open Access

Genome Biology and Evolution

23

Jul

2024

Chromosome-Level Reference Genome of the Ponza Grayling (Hipparchia sbordonii), an Italian Endemic and Endangered Butterfly Gold Open Access

Genome Biology and Evolution

23

Jul

2024

Transcriptomic response to pyrethroid treatment in closely related bed bug strains varying in resistance Gold Open Access

Genome Biology and Evolution

23

Jul

2024

Differential Conservation and Loss of CR1 Retrotransposons in Squamates Reveals Lineage-Specific Genome Dynamics across Reptiles Gold Open Access

Genome Biology and Evolution

23

Jul

2024

PARP4 interacts with hnRNPM to regulate splicing during lung cancer progression Gold Open Access

Genome Medicine

23

Jul

2024

CUT&Tag applied to zebrafish adult tail fins reveals a return of embryonic H3K4me3 patterns during regeneration Gold Open Access

Epigenetics & Chromatin

23

Jul

2024

Clinical efficacy of thalidomide for various genotypes of beta thalassemia Gold Open Access

BMC Medical Genomics

23

Jul

2024

Towards genomic medicine: a tailored next-generation sequencing panel for hydroxyurea pharmacogenomics in Tanzania Gold Open Access

BMC Medical Genomics

23

Jul

2024

Chromosomal instability in a patient with ring chromosome 14 syndrome: a case report Gold Open Access

Molecular Cytogenetics

23

Jul

2024

Epigenetic silencing of KCTD8 promotes hepatocellular carcinoma growth by activating PI3K/AKT signaling Gold Open Access

Epigenomics

23

Jul

2024

Generations of epigenetic clocks and their links to socioeconomic status in the Health and Retirement Study Gold Open Access

Epigenomics

23

Jul

2024

DNA methylation of miR-181a-5p mediated by DNMT3b drives renal interstitial fibrosis developed from acute kidney injury Gold Open Access

Epigenomics

23

Jul

2024

Clinical and genetic profiles of patients with hereditary and wild-type transthyretin amyloidosis: the Transthyretin Cardiac Amyloidosis Registry in t Gold Open Access

Orphanet Journal of Rare Diseases

23

Jul

2024

Novel approach for tracheal resection in Morquio a syndrome with end-stage critical airway obstruction: a UK case series Gold Open Access

Orphanet Journal of Rare Diseases

23

Jul

2024

Letter to the editor: Re: Pathogenic mechanisms of osteogenesis imperfecta, evidence for classification Gold Open Access

Orphanet Journal of Rare Diseases

23

Jul

2024

Rare disease 101: an online resource teaching on over 7000 rare diseases in one short course Gold Open Access

Orphanet Journal of Rare Diseases

23

Jul

2024

Comprehensive analysis of butyric acid impact on immunology, histopathology, gene expression, and metabolomic responses in pacific shrimp experiencing

Comparative Biochemistry and Physiology D-Genomics & Proteomics

23

Jul

2024

Evolution of the sex-determination gene Doublesex within the termite lineage Gold Open Access

Comparative Biochemistry and Physiology D-Genomics & Proteomics

23

Jul

2024

Transcriptomic analysis reveals PC4's participation in thermotolerance of scallop Argopecten irradians irradians by regulating myocardial bioelectric

Comparative Biochemistry and Physiology D-Genomics & Proteomics

23

Jul

2024

PDGFRB mutation causes intracranial aneurysm

Journal of Genetics and Genomics

23

Jul

2024

Towards a universal approach for predicting variant pathogenicity in diverse disease landscapes

Journal of Genetics and Genomics

23

Jul

2024

ccdc141 is required for left-right axis development by regulating cilia formation in the Kupffer’s vesicle of zebrafish

Journal of Genetics and Genomics

23

Jul

2024

Combining single-cell profiling and functional analysis explores the role of pseudogenes in human early embryonic development

Journal of Genetics and Genomics

23

Jul

2024

Keratoconus and inflammatory bowel disease: mendelian randomization Gold Open Access

Frontiers in Genetics

23

Jul

2024

Prenatal diagnosis of dicentric chromosome X mosaicism: a case report and review Gold Open Access

Frontiers in Genetics

23

Jul

2024

Spectrum of pathogenic variants and high prevalence of pathogenic BBS7 variants in Russian patients with Bardet–Biedl syndrome Gold Open Access

Frontiers in Genetics

23

Jul

2024

Sjögren’s syndrome and Parkinson’s disease: a bidirectional Mendelian randomization study Gold Open Access

Frontiers in Genetics

23

Jul

2024

Erratum: Karyotype depends on sperm head morphology in some amniote groups Gold Open Access

Frontiers in Genetics

23

Jul

2024

Gaining new insights into the etiology of ulcerative colitis through a cross-tissue transcriptome-wide association study Gold Open Access

Frontiers in Genetics

23

Jul

2024

TRIM28 in cancer and cancer therapy Gold Open Access

Frontiers in Genetics

23

Jul

2024

Editorial: Genomics assisted improvement of crop plants for adaptation to marginal environments Gold Open Access

Frontiers in Genetics

23

Jul

2024

Editorial: Epigenetic and gene regulation underlying crosstalk in plant development and stress responses Gold Open Access

Frontiers in Genetics

23

Jul

2024

Discovery of candidate genes involved in ethylene biosynthesis and signal transduction pathways related to peach bud cold resistance Gold Open Access

Frontiers in Genetics

23

Jul

2024

Genome-wide identification and expression analysis of EPF/EPFL gene family in Populus trichocarpa Gold Open Access

Frontiers in Genetics

23

Jul

2024

Clinical and molecular characteristics of Kabuki syndrome patients with missense variants—novel features and literature review Gold Open Access

Frontiers in Genetics

23

Jul

2024

Conduction and validation of a novel mitotic spindle assembly related signature in hepatocellular carcinoma: prognostic prediction, tumor immune micro Gold Open Access

Frontiers in Genetics

23

Jul

2024

Homozygous Intragenic Deletion in <i>WDR62</i> in Siblings with Primary Microcephaly

Molecular Syndromology

23

Jul

2024

Integrated analysis of methylation and transcriptome identifies a novel risk model for diagnosis, prognosis, and immune characteristics in head and ne

Molecular Genetics and Genomics

23

Jul

2024

Regulation, Functional Impact, and Therapeutic Targeting of APOBEC3A in Cancer

DNA Repair

23

Jul

2024

Mechanisms and Regulation of Replication Fork Reversal Gold Open Access

DNA Repair

23

Jul

2024

Human translesion DNA polymerases ι and κ mediate tolerance to temozolomide in MGMT-deficient glioblastoma cells. Gold Open Access

DNA Repair

23

Jul

2024

Early cardiac mechanics abnormalities in patients with mitochondrial diseases

Mitochondrion

23

Jul

2024

Population genetic structure of the European pond turtle (Emys orbicularis) at the northern edge of the Pannonian Basin Gold Open Access

Conservation Genetics

23

Jul

2024

Genetic diversity in the traditional cultivars and wild ancestor of near-threatened Japanese iris (Iris ensata Thunb.) Gold Open Access

Conservation Genetics

23

Jul

2024

Genomic evidence reveals three W-autosome fusions in Heliconius butterflies Gold Open Access

PLoS Genetics

23

Jul

2024

Genome-wide analysis of transcription-coupled repair reveals novel transcription events in Caenorhabditis elegans Gold Open Access

PLoS Genetics

23

Jul

2024

APOER2 splicing repertoire in Alzheimer’s disease: Insights from long-read RNA sequencing Gold Open Access

PLoS Genetics

23

Jul

2024

Expanding the phenotype of neurofibromatosis type 1 microdeletion syndrome Gold Open Access

American Journal of Medical Genetics Part C-Seminars in Medical Geneti

23

Jul

2024

Negative, normal, nondiagnostic

American Journal of Medical Genetics Part C-Seminars in Medical Geneti

23

Jul

2024

Novel causative variants in Legius syndrome: SPRED1 Genotype spectrum expansion Gold Open Access

American Journal of Medical Genetics Part A

23

Jul

2024

Subtle phenotypes of Mowat–Wilson syndrome in a patient with a novel ZEB2 C‐ZF domain variant

American Journal of Medical Genetics Part A

23

Jul

2024

Utility of genome sequencing in exome‐negative pediatric patients with neurodevelopmental phenotypes Gold Open Access

American Journal of Medical Genetics Part A

23

Jul

2024

Nablus mask‐like facial syndrome: Report of an atypical case with 8q21.3–q22.1 deletion Gold Open Access

American Journal of Medical Genetics Part A

23

Jul

2024

A novel ABCC9 variant in a Greek family with Cantu syndrome affecting multiple generations highlights the functional role of the SUR2B NBD1 Gold Open Access

American Journal of Medical Genetics Part A

23

Jul

2024

Preclinical Studies of Gene Replacement Therapy for CDKL5 Deficiency Disorder

Molecular Therapy

23

Jul

2024

Harnessing extracellular vesicles for pancreatic fibrosis therapy

Molecular Therapy

23

Jul

2024

A systematic review of immunosuppressive protocols used in AAV gene therapy for monogenic disorders

Molecular Therapy

23

Jul

2024

RNA therapeutics targeting PD-L1 is a promising immune-activation strategy against difficult-to-treat cancers

Molecular Therapy

23

Jul

2024

Extracellular Vesicle Surface Display Enhances the Therapeutic Efficacy and Safety Profile of Cancer Immunotherapy Gold Open Access

Molecular Therapy

23

Jul

2024

Safety and efficacy studies of CRISPR/Cas9 treatment of sickle cell disease in clinically relevant conditions highlights disease-specific responses

Molecular Therapy

23

Jul

2024

Can self-amplifying RNA vaccines and viruses exchange genetic material?

Molecular Therapy

23

Jul

2024

Specific Delivery of MiRNA for High Efficient Inhibition of Prostate Cancer by RNA Nanotechnology

Molecular Therapy

23

Jul

2024

Transforming care for spinal muscular atrophy: A critical look at treatment paradigms

Molecular Therapy

23

Jul

2024

Synergic activity of FGFR2 and MEK inhibitors in the treatment of FGFR2-amplified cancers of unknown primary

Molecular Therapy

23

Jul

2024

Molecular Therapy’s growing influence

Molecular Therapy

23

Jul

2024

Overcoming effector T cell exhaustion in ovarian cancer ascites with a novel adenovirus encoding for a MUC1 bispecific antibody engager and IL-2 cytok Gold Open Access

Molecular Therapy

23

Jul

2024

The first medical education program on gene and gene-modifiedcell therapies for Latin America

Molecular Therapy

23

Jul

2024

AMRomics: a scalable workflow to analyze large microbial genome collections Gold Open Access

BMC Genomics

23

Jul

2024

Upstream CtrA-binding sites both induce and repress pilin gene expression in Caulobacter crescentus Gold Open Access

BMC Genomics

23

Jul

2024

Transcriptome analysis suggested that lncRNAs regulate rapeseed seedlings in responding to drought stress by coordinating the phytohormone signal tran Gold Open Access

BMC Genomics

23

Jul

2024

Genome-wide identification and molecular evolution of Dof gene family in Camellia oleifera Gold Open Access

BMC Genomics

23

Jul

2024

A cross-sectional comparison of gut metagenomes between dairy workers and community controls Gold Open Access

BMC Genomics

23

Jul

2024

Increased expression of human endogenous retrovirus K in endomyocardial biopsies from patients with cardiomyopathy – a transcriptomics meta-analysis Gold Open Access

BMC Genomics

23

Jul

2024

The reverse TRBV30 gene of mammals: a defect or superiority in evolution? Gold Open Access

BMC Genomics

23

Jul

2024

Integrative analyses of metabolome and transcriptome reveal the dynamic accumulation and regulatory network in rhizomes and fruits of Polygonatum cyrt Gold Open Access

BMC Genomics

23

Jul

2024

Epigenetic editing works like a CHARM

Nature Reviews Genetics

23

Jul

2024

Evolution and regulation of animal sex chromosomes

Nature Reviews Genetics

22

Jul

2024

Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human Gold Open Access

Journal of Human Genetics

22

Jul

2024

INTS11-related neurodevelopmental disorder: a case report and literature review

Journal of Human Genetics

22

Jul

2024

Report of the sixth meeting of the European Consortium ‘Care for CMMRD’ (C4CMMRD), Paris, France, November 16th 2022 Gold Open Access

Familial Cancer

22

Jul

2024

Levothyroxine synthesis impurities are neither mutagenic nor genotoxic: Insilico, Ames test and micronucleus test studies.

Mutation Research-Genetic Toxicology and Environmental Mutagenesis

22

Jul

2024

The effects of iodine 131 treatment on chromosomal and oxidative DNA damage in papillary thyroid carcinoma

Mutation Research-Genetic Toxicology and Environmental Mutagenesis

22

Jul

2024

Insights from the first chromosome-level genome assembly of the alpine gentian Gentiana straminea Maxim. (Insight from genome assembly of Gentiana str Gold Open Access

DNA Research

22

Jul

2024

Antibiotic resistance and its correlation with biofilm formation and virulence genes in Klebsiella pneumoniae isolated from wounds

Journal of Applied Genetics

22

Jul

2024

Cancer risks for other sites in addition to breast in CHEK2 c.1100delC families Gold Open Access

Genetics in Medicine

22

Jul

2024

DISPARITIES IN ACCESS TO REPRODUCTIVE GENETIC SERVICES ASSOCIATED WITH GEOGRAPHIC LOCATION OF RESIDENCE AND MATERNAL ETHNICITY

Genetics in Medicine

22

Jul

2024

Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly

Genetics in Medicine

22

Jul

2024

Novel insights into the phenotypic spectrum and pathogenesis of Hardikar syndrome

Genetics in Medicine

22

Jul

2024

Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders Gold Open Access

Genetics in Medicine

22

Jul

2024

X-linked transient antenatal Bartter syndrome related to MAGED2 gene: enriching the phenotypic description and pathophysiologic investigation

Genetics in Medicine

22

Jul

2024

Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases

Genetics in Medicine

22

Jul

2024

Application of multiple mosaic callers improves post-zygotic mutation detection from exome sequencing data

Genetics in Medicine

22

Jul

2024

Where there is no genetic counselor: An online decision-aid supports the majority of parents’ diagnostic genomic testing choices for their children Gold Open Access

Genetics in Medicine

22

Jul

2024

New findings about neuropathological outcomes in the PKU mouse throughout lifespan

Molecular Genetics and Metabolism

22

Jul

2024

HepG2 PMM2-CDG knockout model: A versatile platform for variant and therapeutic evaluation

Molecular Genetics and Metabolism

22

Jul

2024

Extending diagnostic practices in gyrate atrophy: Enzymatic characterization and the development of an in vitro pyridoxine responsiveness assay

Molecular Genetics and Metabolism

22

Jul

2024

Pro-cathepsin D prevents aberrant protein aggregation dependent on endoplasmic reticulum protein CLN6

Molecular Genetics and Metabolism

22

Jul

2024

The pyruvate dehydrogenase complex at the epigenetic crossroads of acetylation and Lactylation

Molecular Genetics and Metabolism

22

Jul

2024

Executive functions & metabolic control in phenylketonuria (PKU) and mild hyperphenylalaninemia (mHPA)

Molecular Genetics and Metabolism

22

Jul

2024

Comparative analysis of circulating metabolomic profiles identifies shared metabolic alterations across distinct multistressor military training exerc

Physiological Genomics

22

Jul

2024

Metabolomic pattern associated with physical sequelae in patients presenting with respiratory symptoms validates the aestivation concept in dehydrated

Physiological Genomics

22

Jul

2024

Optimization of mouse kidney digestion protocols for single-cell applications

Physiological Genomics

22

Jul

2024

Specific circulating miRNAs are associated with plasma lipids in a healthy American cohort

Physiological Genomics

22

Jul

2024

Computational modeling of the synergistic role of GCN2 and the HPA axis in regulating the integrated stress response in the central circadian timing s

Physiological Genomics

22

Jul

2024

Graph-based self-supervised learning for repeat detection in metagenomic assembly

Genome Research

22

Jul

2024

Differential impacts of furfural and acetic acid on the bioenergetics and fermentation performance of Scheffersomyces stipitis

Fungal Genetics and Biology

22

Jul

2024

Integrated analyses highlight interactions between the three-dimensional genome and DNA, RNA and epigenomic alterations in metastatic prostate cancer Gold Open Access

Nature Genetics

22

Jul

2024

Parent‐reported genetic counselor adherence to the NSGC practice resource for communicating a potential prenatal diagnosis: Impact on the Down syndrom

Journal of Genetic Counseling

22

Jul

2024

The ethics of non-partner requests for posthumous assisted reproduction

Journal of Assisted Reproduction and Genetics

22

Jul

2024

Association between subchorionic hematoma in the first trimester and outcomes of singleton pregnancies achieved through assisted reproductive technolo

Journal of Assisted Reproduction and Genetics

22

Jul

2024

Interrogating erectile dysfunction and evaluating novel therapeutic frontiers, with emphasis on stem cell strategies

Journal of Assisted Reproduction and Genetics

22

Jul

2024

The DNA double-strand break repair proteins γH2AX, RAD51, BRCA1, RPA70, KU80, and XRCC4 exhibit follicle-specific expression differences in the postna Gold Open Access

Journal of Assisted Reproduction and Genetics

22

Jul

2024

A simple method for repeated in vivo sperm collection from laboratory mice Gold Open Access

Journal of Assisted Reproduction and Genetics

22

Jul

2024

Female fertility preservation for family planning: a position statement of the Italian Society of Fertility and Sterility and Reproductive Medicine (S Gold Open Access

Journal of Assisted Reproduction and Genetics

22

Jul

2024

Male infertility is associated with differential DNA methylation signatures of the imprinted gene GNAS and the non-imprinted gene CEP41 Gold Open Access

Journal of Assisted Reproduction and Genetics

22

Jul

2024

The impact of an adapted SPIKES protocol vs routine care in the delivery of bad news to IVF patients: an exploratory pilot multicenter randomized cont

Journal of Assisted Reproduction and Genetics

22

Jul

2024

Genetic diversity of the largest african mole-rat genus, bathyergus. one, two or four species?

Molecular Phylogenetics and Evolution

22

Jul

2024

Inferring Phylogenetic Networks from Multifurcating Trees via Cherry Picking and Machine Learning Gold Open Access

Molecular Phylogenetics and Evolution

22

Jul

2024

Evolutionary relationships and fine-scale geographic structuring in the temperate percichthyid genus Gadopsis (blackfishes) to support fisheries and c Gold Open Access

Molecular Phylogenetics and Evolution

22

Jul

2024

Whole genome phylogenomics helps to resolve the phylogenetic position of the Zygothrica genus group (Diptera, Drosophilidae) and the causes of previou

Molecular Phylogenetics and Evolution

22

Jul

2024

The Variable Genomic Landscape During Osteosarcoma Progression: Insights From a Longitudinal WGS Analysis Gold Open Access

Genes Chromosomes & Cancer

22

Jul

2024

Loss of Chromosome Y in Neuroblastoma Is Associated With High‐Risk Disease, 11q‐Deletion, and Telomere Maintenance Gold Open Access

Genes Chromosomes & Cancer

22

Jul

2024

Precision Diagnostics in Myeloid Malignancies: Development and Validation of a National Capture‐Based Gene Panel Gold Open Access

Genes Chromosomes & Cancer

22

Jul

2024

Shen-Qi-Ling-Bi Decoction Inhibits Colorectal Cancer Cell Growth by Inducing Ferroptosis Through Inactivation of PI3K/AKT Signaling Pathway

DNA and Cell Biology

22

Jul

2024

Innovating Cancer Treatment Through Cell Cycle, Telomerase, Angiogenesis, and Metastasis

DNA and Cell Biology

22

Jul

2024

Pre-Existing Immunity to a Nucleic Acid Contaminant-Derived Antigen Mediates Transaminitis and Resultant Diminished Transgene Expression in a Mouse Mo

Human Gene Therapy

22

Jul

2024

Complement System Response to Adeno-Associated Virus Vector Gene Therapy

Human Gene Therapy

22

Jul

2024

Role of FoxP3+ Regulatory T Cells in Modulating Immune Responses to Adeno-Associated Virus Gene Therapy

Human Gene Therapy

22

Jul

2024

Development of an Enzyme-Linked Immunosorbent Spot Assay for the Assessment of Adeno-Associated Virus Peptides to Examine Immune Safety

Human Gene Therapy

22

Jul

2024

Circumventing B Cell Responses to Allow for Redosing of Adeno-Associated Virus Vectors

Human Gene Therapy

22

Jul

2024

Leveraging CRISPR-Cas9 for Accurate Detection of AAV-Neutralizing Antibodies: The AAV-HDR Method

Human Gene Therapy

22

Jul

2024

Pfizer Weighs Next Steps after DMD Therapy Linked to Boy’s Death Fails Phase III Trial

Human Gene Therapy

22

Jul

2024

Peripheral Cellular Immune Responses Induced by Subretinal Adeno-Associated Virus Gene Transfer Can Be Restrained by the Subretinal-Associated Immune

Human Gene Therapy

22

Jul

2024

Termination of pregnancy for fetal malformations and severe genetic disorders: what are the laws in Europe?

European Journal of Human Genetics

22

Jul

2024

Analysis of 14,392 whole genomes reveals 3.5% of Qataris carry medically actionable variants Gold Open Access

European Journal of Human Genetics

22

Jul

2024

Suppression of viral rebound by a Rev-dependent lentiviral particle in SIV-infected rhesus macaques Gold Open Access

Gene Therapy

22

Jul

2024

Sequence-to-expression approach to identify etiological non-coding DNA variations in P53 and cMYC-driven diseases

Human Molecular Genetics