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A novel heterozygous TMEM63A variant in a familial case with early onset nystagmus, severe hypomyelination, and a favorable adult prognosis
Heterozygous transmembrane protein 63A ( TMEM63A ) variants cause transient infantile hypomyelinating leukodystrophy-19, which features remarkable...
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Investigating druggable kinases for targeted therapy in retinoblastoma
Retinoblastoma (RB) is a childhood retinal neoplasm and commonly treated with cytotoxic chemotherapeutic agents. However, these therapeutic...
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Association of Crohn’s disease and ulcerative colitis with the risk of neurological diseases: a large-scale Mendelian randomization study
Observational studies suggested increased risks of Alzheimer’s disease (AD), Parkinson’s disease (PD), and multiple sclerosis (MS) in patients with...
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Rare variants at KCNJ2 are associated with LDL-cholesterol levels in a cross-population study
Leveraging whole genome sequencing data of 1751 individuals from the UK and 2587 Qatari subjects, we suggest here an association of rare variants...
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Anti-angiogenesis and anti-immunosuppression gene therapy through targeting COUP-TFII in an in situ glioblastoma mouse model
Glioblastoma (GBM) is the most common and aggressive primary brain cancer; angiogenesis and immunosuppression exacerbate GBM progression. COUP-TFII ...
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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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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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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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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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Structure and transcription of integrated HPV DNA in vulvar carcinomas
HPV infections are associated with a fraction of vulvar cancers. Through hybridization capture and DNA sequencing, HPV DNA was detected in five of...
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Whole genome sequencing of families diagnosed with cardiac channelopathies reveals structural variants missed by whole exome sequencing
Cardiac channelopathies are a group of heritable disorders that affect the heart’s electrical activity due to genetic variations present in genes...
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Genotypic and phenotypic characteristics of sodium channel—associated epilepsy in Chinese population
Variants in voltage-gated sodium channel (VGSC) genes are implicated in seizures, epilepsy, and neurodevelopmental disorders, constituting a...
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Deciphering the role of post-translational modifications in fanconi anemia proteins and their influence on tumorigenesis
Fanconi anemia (FA) is an autosomal or X-linked human disease, characterized by bone marrow failure, cancer susceptibility and various developmental...
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ScRNA-seq revealed the tumor microenvironment heterogeneity related to the occurrence and metastasis in upper urinary tract urothelial carcinoma
Metastasis is the greatest clinical challenge for UTUCs, which may have distinct molecular and cellular characteristics from earlier cancers. Herein,...
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Identifying unstable CNG repeat loci in the human genome: a heuristic approach and implications for neurological disorders
Tandem nucleotide repeat (TNR) expansions, particularly the CNG nucleotide configuration, are associated with a variety of neurodegenerative...
