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CCT6A promotes cell proliferation in colon cancer by targeting BIRC5 associated with p53 status
Chaperonin-containing TCP1 (CCT) is a multi-subunit complex, known to participate the correct folding of many proteins. Currently, the mechanism...
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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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Stem Cell Therapy as a Potential Treatment of Non-Alcoholic Steatohepatitis-Related End-Stage Liver Disease: A Narrative Review
Purpose of ReviewTo review recent research using various stem cell-related therapies, including bone marrow, adipose tissue, hematopoietic stem...
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B cell lymphoma 6 promotes hepatocellular carcinoma progression by inhibiting tumor infiltrating CD4+T cell cytotoxicity through ESM1
Immunotherapy exhibited potential effects for advanced hepatocellular carcinoma, unfortunately, the clinical benefits are often countered by cancer...
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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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Combination of MRI-based prediction and CRISPR/Cas12a-based detection for IDH genoty** in glioma
Early identification of IDH mutation status is of great significance in clinical therapeutic decision-making in the treatment of glioma. We...
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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...