Categoría: Enfermedades Raras
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An integrative genetic and transcriptomic study reveals a causal link and candidate biomarkers between tuberculosis and asthma
IntroductionTuberculosis, caused by Mycobacterium tuberculosis, mainly affects the lungs, while asthma is a common chronic respiratory condition often linked with other health issues. Research on the connection between these two diseases is scarce, and…
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Multi-omics mendelian randomization integrating GWAS and eQTL data revealed potential drug target for irritable bowel syndrome
IntroductionIrritable bowel syndrome (IBS) is a common gastrointestinal disorder mainly affecting the young and female with limited therapeutic options, necessitating the identification of novel drug targets. This study aimed to identify and prioritize…
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MYBPC1-associated congenital myopathy with tremor: further delineation of the clinical and pathological phenotype in the first Italian case
The MYBPC1 gene, mapping to chromosome 12q23.2, encodes the slow myosin binding protein-C (sMyBP-C), a sarcomeric accessory protein, expressed mainly in slow skeletal muscle fibers, that aids in the regulation of actomyosin cross-bridges and provides t…
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Clinical characterization and molecular analysis of X-linked juvenile retinoschisis in a northern Chinese cohort
PurposeThis study aims to explore the clinical features and genetic findings associated with X-linked juvenile retinoschisis (XLRS) in affected patients.MethodsThis study included 16 patients with XLRS from 13 unrelated families between 2016 and 2024. …
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Evaluation of the contribution of trio-exome sequencing in selected prenatal indications
ObjectiveThis study is an example of the contribution of exome sequencing (ES) in selected prenatal indications, while illustrating the complexity of interpreting prenatal genetic testing. Therefore, one of the aims of this study was to better describe…
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High prevalence of Hb Q-Thailand not in cis with the -α4.2 deletion: genotypes, phenotypes, and implications in the cenxi population of southern China
ObjectivesHb Q-Thailand, a common hemoglobin variation in Southeast Asia, has historically been associated with the -α4.2 deletion. However, in the Cenxi population of southern China, this variant is frequently detected without the -α4.2 deletion. This…
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Genetic determinants of age-related macular degeneration in Middle Eastern populations: a systematic review
BackgroundAge-related macular degeneration (AMD) is a leading cause of vision loss, with genetic factors playing a key role in disease susceptibility and progression. While extensive genetic research is being conducted, the genetic architecture of AMD …
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21 novel pathogenic variants identified in a cohort of 77 Chinese families with osteogenesis imperfecta
ObjectiveOsteogenesis imperfecta (OI) is a group of connective tissue disorders with significantly clinical and genetic heterogeneity, which is characterized by low bone mineral density, recurrent fractures and skeletal deformities. This study aimed to…
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Clinical outcomes of preimplantation genetic testing for structural rearrangements in couples with chromosomal inversions: a retrospective analysis
Chromosomal inversion is one of the common types of chromosomal structural rearrangements. For couples with chromosomal inversions, the appropriate recommendations for preimplantation genetic testing (PGT) remain a subject of ongoing debate. This study…
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Decoding thalassemia and sickle cell disease: advances in molecular technologies for comprehensive variant detection
Thalassemia and sickle cell disease are inherited hemoglobinopathies caused by pathogenic variants in the globin genes and represent a major global health burden. Despite major advances in screening and diagnostics, challenges persist due to extensive …