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A systematic strategy for identifying causal single nucleotide polymorphisms and their target genes on Juvenile arthritis risk haplotypes
BackgroundAlthough genome-wide association studies (GWAS) have identified multiple regions conferring genetic risk for juvenile idiopathic arthritis...
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Contribution of plasma levels of VEGF-A and angiopoietin-2 in addition to a genetic variant in KCNAB1 to predict the risk of bevacizumab-induced hypertension
Bevacizumab-induced hypertension poses a therapeutic challenge and identifying biomarkers for hypertension can enhance therapy safety. Lower plasma...
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Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations
Myhre syndrome (MS, MIM 139210) is a rare multisystemic disorder caused by recurrent pathogenic missense variants in SMAD4 . The clinical features...
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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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A possible role of lncRNA MEG3 and lncRNA MAFG-AS1 on miRNA 147-b in the pathogenesis of Behcet’s disease
Behcet’s disease (BD) is a multisystem disease with altered Toll-like receptors (TLRs) on macrophages. Long noncoding RNA Maternally expressed gene 3...
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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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The obesity-related mutation gene on nonalcoholic fatty liver disease
The prevalence of overweight and obesity is increasing, leading to metabolic-associated fatty liver disease (MAFLD) characterized by excessive...
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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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Creation and validation of the first infinium DNA methylation array for the human imprintome
BackgroundDifferentially methylated imprint control regions (ICRs) regulate the monoallelic expression of imprinted genes. Their epigenetic...
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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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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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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...