Categoría: Enfermedades Raras
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Case Report: Prenatal diagnosis of congenital knee dislocation caused by BICD2 gene variant
Congenital dislocation of the knee (CDK) is a rare malformation that severely affects the quality of life of affected fetuses and imposes a heavy burden on families and society. Its etiology remains unclear and may be related to genetic factors, quadri…
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Cell-type-resolved colocalisation prioritises KCNIP2 as a candidate epilepsy drug-target detectable at inhibitory-neuron but not bulk-tissue resolution: a Mendelian randomisation and colocalisation study
Most antiseizure medicines act on a limited set of neuronal targets. Approximately a third of patients have treatment-resistant epilepsy, creating a need for mechanistically distinct drug targets. Human genetics can prioritise them, but epilepsy target…
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The COL4A3 c.3418+1G>T variant causes exon 39 skipping in minigene assays: functional and exploratory structural analyses
BackgroundCanonical splice-site variants are an important cause of Alport syndrome, but the transcript consequences of many heterozygous COL4A3 variants remain experimentally unverified. We characterized COL4A3 c.3418 + 1G>T in a 38-year-old woman with…
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Whole-exome sequencing reveals genetic etiology and pregnancy outcomes in fetuses with ultrasound-detected abnormalities at a tertiary center
Despite advances in prenatal diagnostics, the genetic causes underlying fetal ultrasound abnormalities remain poorly understood, with a significant proportion of cases lacking definitive molecular diagnoses. Invasive prenatal testing was performed in 1…
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Cross-lineage anomaly detection of microRNA expression: a framework for deriving exploratory candidate biomarkers in sarcoma
IntroductionSarcomas are rare, heterogeneous malignancies of mesenchymal origin whose diagnosis and molecular classification remain challenging. We introduced a oneclass anomaly detection framework to microRNA expression profiles to test whether sarcom…
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Distinct host genetic determinants of HIV acquisition and disease progression: the case of classical HLA class I
HIV acquisition and disease progression appear to be influenced by largely distinct host genetic factors. Whether infection becomes established is determined shortly after mucosal or parenteral exposure, before HIV-specific CD8+ T-cell responses become…
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Duplication of the SOX3 gene in an SRY-negative boy with a 46,XX karyotype: a case report and a review of the literature
46,XX testicular disorder of sex development (DSD), also known as XX male syndrome, is a rare condition where an individual with a 46,XX karyotype develops a male phenotype. In 90% of cases, the syndrome results from the translocation of the SRY gene t…
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Molecular characterization and pathogenicity stratification of YWHAG missense variants in developmental and epileptic encephalopathy
BackgroundVariants in YWHAG cause severe developmental and epileptic encephalopathy (DEE) with early-onset seizures. Rapid and precise clinical classification of its missense variants presents a substantial challenge. This study sought to explore YWHAG…
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Prevalence of migalastat-amenable variants in patients with Fabry disease from Brazil, Argentina, and Colombia: an observational study
IntroductionFabry disease is a progressive, X-linked lysosomal disorder caused by GLA variants that result in dysfunctional α-galactosidase A (α-Gal A) enzyme. One treatment option is migalastat, an oral small-molecule pharmacological chaperone treatme…
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Clinical and genetic features, surgical management, and longitudinal follow-up in two children with progressive osseous heteroplasia
BackgroundProgressive osseous heteroplasia (POH) is an ultrarare disorder characterized by heterotopic ossification that progresses from the skin and subcutaneous tissues into deeper connective tissues. Most affected individuals harbor heterozygous ina…