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Genetic therapies for cardiomyopathy: survey of attitudes of the patient community for the CureHeart project
Cardiomyopathies are a group of inherited heart muscle disorders. Expressivity is variable and while sometimes mild, complications can result in...
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Using a new analytic approach for genoty** and phenoty** chromosome 9p deletion syndrome
Using a new analytic method (“unique non-overlap** region” (UNOR) analysis), we characterized the genotypes and phenotypes of a large cohort of...
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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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Genetic evidence for causal association between migraine and dementia: a mendelian randomization study
BackgroundThere is an association between migraine and dementia, however, their causal relationship remains unclear. This study employed...
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Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosa
X-linked retinitis pigmentosa (XLRP) is characterized by progressive vision loss leading to legal blindness in males and a broad severity spectrum in...
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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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Analysis of human papillomavirus type 16 E4, E5 and L2 gene variations among women with cervical infection in **njiang, China
BackgroundThere is a high incidence of cervical cancer in **njiang. Genetic variation in human papillomavirus may increase its ability to invade,...
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A novel start-loss mutation of the SLC29A3 gene in a consanguineous family with H syndrome: clinical characteristics, in silico analysis and literature review
BackgroundThe SLC29A3 gene, which encodes a nucleoside transporter protein, is primarily located in intracellular membranes. The mutations in this...
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Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes
This study aimed to uncover novel genes associated with neurodevelopmental disorders (NDD) by leveraging recent large-scale de novo burden analysis...
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A healthy live birth after mosaic blastocyst transfer in preimplantation genetic testing for GATA1-related cytopenia combined with HLA matching
BackgroundGATA1-related cytopenia (GRC) is characterized by thrombocytopaenia and/or anaemia ranging from mild to severe. Haematopoietic stem cell...
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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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Effect of the OPHN1 novel variant c.1025+1 G>A on RNA splicing: insights from a minigene assay
This research analyzes the clinical data, whole-exome sequencing results, and in vitro minigene functional experiments of a child with developmental...
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Variants in HCFC1 and MN1 genes causing intellectual disability in two Pakistani families
BackgroundIntellectual disability (ID) is a neurodevelopmental condition affecting around 2% of children and young adults worldwide, characterized by...
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Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between CYP2D6, CYP2C19 and non-SSRI/non-TCA antidepressants
The Dutch Pharmacogenetics Working Group (DPWG) aims to facilitate pharmacogenetics implementation in clinical practice by develo** evidence-based...
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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...
