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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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Expanding the phenotypic spectrum of CC2D2A-related ciliopathies: a rare homozygous nonsense variant in a patient with suspected nephronophthisis
Biallelic pathogenic variants in the gene CC2D2A cause a spectrum of ciliopathies, including Joubert and Meckel syndrome, which frequently involve...
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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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Short Tandem Repeats in the era of next-generation sequencing: from historical loci to population databases
In this study, we explore the landscape of short tandem repeats (STRs) within the human genome through the lens of evolving technologies to detect...
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Validating genetic variants in innate immunity linked to infectious events in acute myeloid leukemia post-induction chemotherapy
Infectious events, such as sepsis and invasive fungal disease (IFD), pose significant risks in patients with acute myeloid leukemia (AML). Previous...
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Association between OX40L polymorphism and type 2 diabetes mellitus in Iranians
IntroductionDiabetes mellitus (DM) is one of the leading causes of morbidity and mortality worldwide. It is a multifactorial disease that genetic and...
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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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Mendelian randomization analysis reveals higher whole body water mass may increase risk of bacterial infections
Background and purposeThe association of water loading with several infections remains unclear. Observational studies are hard to investigate...
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Four novel mutations identified in the COL4A3, COL4A4 and COL4A5 genes in 10 families with Alport syndrome
BackgroundAlport syndrome (AS) is an inherited nephropathy caused by mutations in the type IV collagen genes. It is clinically characterized by...
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A case of Ph+ acute lymphoblastic leukemia and EGFR mutant lung adenocarcinoma synchronous overlap: may one TKI drug solve two diseases?
BackgroundPhiladelphia chromosome positive (Ph + ) acute lymphoblastic leukemia (ALL) refers to ALL patients with t(9;22) cytogenetic abnormalities,...
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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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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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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...
