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Congenital anomalies in Santa Catarina, Southern Brazil: macroregional and temporal birth prevalence for the period 2011–2020
Congenital anomalies (CAs) are an important cause of infant mortality and efficient surveillance is necessary for their prevention. Therefore, the...
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Extracellular vesicles from type-2 macrophages increase the survival of chronic lymphocytic leukemia cells ex vivo
The resistance of Chronic Lymphocytic Leukemia (CLL) B-cells to cell death is mainly attributed to interactions within their microenvironment, where...
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Highly efficient and specific regulation of gene expression using enhanced CRISPR-Cas12f system
The recently developed CRISPR activator (CRISPRa) system uses a CRISPR-Cas effector-based transcriptional activator to effectively control the...
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Two-stage strategy using denoising autoencoders for robust reference-free genotype imputation with missing input genotypes
Widely used genotype imputation methods are based on the Li and Stephens model, which assumes that new haplotypes can be represented by modifying...
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A novel mutation in SORD gene associated with distal hereditary motor neuropathies
BackgroundDistal hereditary motor neuropathy (dHMN) is a heterogeneous group of hereditary diseases caused by the gradual degeneration of the lower...
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Mild phenotypes in patients with different deletions in the 3′ enhancer region of SHOX
Haploinsufficiency of the s hort stature ho meobo x- containing ( SHOX ) gene leads to a phenotypic spectrum ranging from Leri-Weill dyschondrosteosis...
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The ability of microRNAs to regulate the immune response in ischemia/reperfusion inflammatory pathways
MicroRNAs play a crucial role in regulating the immune responses induced by ischemia/reperfusion injury. Through their ability to modulate gene...
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Facing the challenges to shorten the diagnostic odyssey: first Whole Genome Sequencing experience of a Colombian cohort with suspected rare diseases
Exome and genome sequencing (ES/GS) are routinely used for the diagnosis of genetic diseases in developed countries. However, their implementation is...
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Comprehensive analysis of the expression, prognostic, and immune infiltration for COL4s in stomach adenocarcinoma
BackgroundCollagen (COL) genes, play a key role in tumor invasion and metastasis, are involved in tumor extracellular matrix (ECM)-receptor...
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Limitations in next-generation sequencing-based genoty** of breast cancer polygenic risk score loci
Considering polygenic risk scores (PRSs) in individual risk prediction is increasingly implemented in genetic testing for hereditary breast cancer...
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Key informant perspectives on implementing genomic newborn screening: a qualitative study guided by the Action, Actor, Context, Target, Time framework
Newborn screening (NBS) programmes are highly successful, trusted, public health interventions. Genomic sequencing offers the opportunity to increase...
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Predictive role of ITPA genetic variants in thiopurine-related myelotoxicity in Crohn’s disease patients
Thiopurines, an effective therapy for Crohn’s disease (CD), often lead to adverse events (AEs). Gene polymorphisms affecting thiopurine metabolism...
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A novel homozygous variant of the PIGK gene caused by paternal disomy in a patient with neurodevelopmental disorder, cerebellar atrophy, and seizures
Glycosylphosphatidylinositol (GPI)-anchored proteins are located at the cell surface by a covalent attachment between protein and GPI embedded in the...
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Molecular genomic and epigenomic characteristics related to aspirin and clopidogrel resistance
BackgroundMediators, genomic and epigenomic characteristics involving in metabolism of arachidonic acid by cyclooxygenase (COX) and lipoxygenase...
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Expression profile of long noncoding RNAs and comprehensive analysis of lncRNA-cisTF-DGE regulation in condyloma acuminatum
ObjectiveTo identify differentially expressed long noncoding RNAs (lncRNAs) in condyloma acuminatum (CA) and to explore their probable regulatory...
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Gut microbiota-mediated activation of GSDMD ignites colorectal tumorigenesis
Activation of Gasdermin D (GSDMD) results in its cleavage, oligomerization, and subsequent formation of plasma membrane pores, leading to a form of...
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“Unnatural resources?”: parallels and distinctions between the Newfoundland Genome and traditional resource sectors
Newfoundland and Labrador (NL) has a long history of resource development, exploitation, and frequent mismanagement. Even before joining the Canadian...
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The prognostic significance of ubiquitination-related genes in multiple myeloma by bioinformatics analysis
BackgroundImmunoregulatory drugs regulate the ubiquitin-proteasome system, which is the main treatment for multiple myeloma (MM) at present. In this...
