Categoría: REVIEW
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Epilepsy genetics in Africa: a systematic review
BackgroundWhile our understanding of genetic epilepsies is growing, data from Africa remain scant. In this study, we reviewed the profile of epilepsy genetics in Africa.MethodsWe searched for studies in PubMed, Scopus, Google Scholar, and African Journ…
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Artificial intelligence for precision gene therapy: emerging technologies, clinical applications, and future directions
Artificial Intelligence (AI) is revolutionizing gene therapy from an empirical and iterative process to a predictive, data-driven and increasingly intelligent therapeutic development approach. This review covers the application of AI extensively throug…
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Emerging genetic mechanisms of glomerular proteinuria: a podocyte-centered multi-layer network perspective
Podocyte injury is widely recognized as a central driver of glomerular proteinuria and progression to chronic kidney disease. Although proteinuria can originate from multiple components of the glomerular filtration barrier, genetic and experimental stu…
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Decoding the Genetic and Phenotypic Spectrum of MT‐TI Mitochondrial Diseases
Annals of Human Genetics, EarlyView.
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Decoding the Genetic and Phenotypic Spectrum of MT‐TI Mitochondrial Diseases
Annals of Human Genetics, EarlyView.
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Integrating rare and common variation in epilepsy genetics: from genetic architecture to penetrance and clinical expressivity
Epilepsy genetics has often been interpreted through a useful but simplified dichotomous framework in which severe epilepsies, particularly developmental and epileptic encephalopathies, are attributed mainly to rare, high-effect variants, whereas more …
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Langer mesomelic dysplasia as a rare manifestation of SHOX deficiency: a narrative review
Langer mesomelic dysplasia is an exceptionally rare skeletal dysplasia caused by complete or functionally complete deficiency of the SHOX (short stature homeobox) gene located within the pseudoautosomal region 1 (PAR1) of the sex chromosomes. Clinicall…
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Understanding normal cardiac morphogenesis and its disruptions: a journey through pathways
Congenital heart diseases (CHDs) encompass a broad spectrum of structural anomalies with substantial clinical and genetic heterogeneity. They are the most common birth defects in humans, and a leading cause of paediatric morbidity and mortality. Yet, i…
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NIMA-related kinase family at the nexus of skeletal development and congenital arthrogryposis: coordinated regulation of cell cycle and ciliary dynamics
BackgroundThe NIMA-related kinase (NEK) family comprises a group of serine/threonine kinases that play pivotal roles in cell cycle control. Emerging evidence has demonstrated that loss-of-function (LOF) mutations in NEK family members, particularly NEK…
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Beyond CCR5 and HLA: rare genetic variants in HIV acquisition and disease progression
The CCR5 locus and the HLA class I region, first identified through candidate gene studies, remain the most well-characterized host genetic factors associated with HIV acquisition and disease progression, respectively. To date, genome wide association …