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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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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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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...
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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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“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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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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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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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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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...
