Categoría: Original Research
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Multiple susceptibility enhancer variants increasing ADD3 expression predisposes to biliary atresia risk
BackgroundNon-syndromic biliary atresia (BA) is a multifactorial disorder with a poorly understood genetic basis. We previously identified 154 BA-associated SNPs spanning the ADD3 locus, which harbors the most strongly associated common variants in Asi…
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Retrospective analysis of non-invasive prenatal testing: a population study involving 19,835 participants in the Shaoyang area
BackgroundThis cohort study aimed to evaluate the clinical efficacy of Non-invasive prenatal testing (NIPT) in detecting fetal chromosomal abnormalities within a pregnant population in the Shaoyang area, and to further investigate the potential correla…
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TPM1-p.E181K mutation suppresses CaMKII/HDAC4 signaling pathway leading to pediatric restrictive cardiomyopathy
BackgroundThis study aims to elucidate the pathogenicity of the TPM1 mutation (NM_001018005.2:c.541G>A, p. Glu181Lys) in restrictive cardiomyopathy (RCM), establish its ACMG pathogenicity classification, and report for the first time its association wi…
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Genomic and ancestral variations linked to the development of post-acute sequelae of SARS-CoV-2 infection in Indian populations
BackgroundSusceptibility to infectious diseases is a result of complex interactions between genomic, environmental, and clinical factors. COVID-19 severity and post-acute sequelae of COVID-19 (PASC) vary widely among individuals, yet its genetic determ…
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Expanding the mutational spectrum of congenital microcephaly in Pakistani families
Autosomal recessive primary microcephaly (MCPH) is a genetically heterogeneous neurodevelopmental disorder characterized by a markedly reduced head circumference (−3 to −5 standard deviations) at birth, with relatively preserved brain architecture. Aff…
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rs9789446 genotype as susceptibility biomarkers for congenital hypothyroidism based on population and family validation
IntroductionCongenital hypothyroidism (CH) is a metabolic disorder in newborns due to insufficient synthesis, abnormal secretion, or defective action of thyroid hormones. While newborn screening enables early detection, the precise etiology remains elu…
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Expanding the spectrum of NUS1-related progressive myoclonic epilepsy: a novel variant and exploratory use of metformin
IntroductionProgressive myoclonic epilepsies (PME) are rare genetic disorders typically presenting with myoclonus, seizures, and cognitive decline. While several genes are associated with PME, the NUS1 gene has recently emerged as a potential cause. We…
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LRRC56 deficiency cause motile ciliopathies in humans and mice
IntroductionMotile ciliopathies represent a group of disorders caused by impaired motility of cilia and flagella, resulting in clinical manifestations such as laterality defects, asthenospermia, chronic respiratory infections, and hydrocephalus. Althou…
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A transcriptomic atlas at bulk and single-cell levels identifies novel transcriptional and splicing regulators of ECM homeostasis in osteoarthritis
Osteoarthritis (OA) is a common chronic degenerative joint disease. Chondrocytes undergo dynamic changes during the pathogenesis of OA, and the destruction of the extracellular matrix (ECM) and its homeostatic disruption are hallmarks of OA. This study…
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Optical genome mapping uncovers clinically relevant structural variants in congenital heart disease with heterotaxy
IntroductionThe genetic factors underlying congenital heart disease and heterotaxy (CHD/HTX) are complex, including copy number variants, loss-of-function mutations, and missense variants, many of which can be detected by high-throughput sequencing. Th…