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Characterization of a missense variant in COG5 in a Tunisian patient with COG5-CDG syndrome and insights into the effect of non-synonymous variants on COG5 protein
The clinical diagnosis of patients with multisystem involvement including a pronounced neurologic damage is challenging. High-throughput sequencing...
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Genomic variants associated with age at diagnosis of childhood-onset type 1 diabetes
Age at diagnosis (AAD) of Type 1 diabetes (T1D) is determined by the age at onset of the autoimmune attack and by the rate of beta cell destruction...
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Ethnic-specific genetic susceptibility loci for endometriosis in Taiwanese-Han population: a genome-wide association study
Endometriosis is a common gynecological disorder affecting around 10% of reproductive-age women. Although many hypotheses were proposed, genetic...
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“Living with a question mark”: psychosocial experience of Portuguese young adults at risk for hereditary amyloid transthyretin amyloidosis with polyneuropathy
This study is the first to explore the psychosocial experience of young Portuguese adults at genetic risk for hereditary amyloid transthyretin...
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Long-term severe hypoxia adaptation induces non-canonical EMT and a novel Wilms Tumor 1 (WT1) isoform
The majority of cancer deaths are caused by solid tumors, where the four most prevalent cancers (breast, lung, colorectal and prostate) account for...
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Administration and detection of a multi-target rAAV gene do** vector in horses using multiple matrices and molecular techniques
Gene do**, which includes the non-therapeutic use of genes or genetic elements that have the capacity to enhance athletic performance, is...
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Equity in action: The Diagnostic Working Group of The Undiagnosed Diseases Network International
Rare diseases are recognized as a global public health priority. A timely and accurate diagnosis is a critical enabler for precise and personalized...
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Stable inhibition of choroidal neovascularization by adeno-associated virus 2/8-vectored bispecific molecules
Neovascular age-related macular degeneration (nAMD) causes severe visual impairment. Pigment epithelium-derived factor (PEDF), soluble CD59 (sCD59),...
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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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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...
