Categoría: Articulos
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Clinical characterization and in silico structural analysis of microtubule-related gene variants in eleven patients
ObjectiveThis study aimed to analyze associations of Microtubules (MTs) mutations with nervous system phenotypes, summarize mutation characteristics of genes including TUBA1A, TUBB2A, TUBB4A, and TUBGCP6, explore clinical phenotypic diversity and molec…
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Rare gene variants linked to dental differences that shape our smiles
Rare variants in a gene involved in early development have been linked to a range of dental differences in people, including missing teeth, unusual tooth shapes and teeth present at birth. By studying changes in the same gene in mice and chickens, rese…
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Utility of exome-based gene panel testing and research analysis of existing exome sequencing data in suspected monogenic diabetes
Background Methods Results Conclusion …
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Targeting taurine metabolism improves mitochondrial function in mt-tRNA mutation-associated mitochondrial disease
Background Methods Results Conclusions …
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Reproductive health and cystic fibrosis: New guidance offers options and hope
For much of the history of cystic fibrosis (CF) care, reproductive health was not a major part of the conversation. Fertility challenges were the norm for men and women with this genetic disorder, and many grew up assuming biological parenthood was not…
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Founder derivative chromosome causing a recessive-like recurrent disorder: der(17)-associated 19p13.3 duplication in the Upper Tigris Basin
WHAT IS ALREADY KNOWN ON THIS TOPICProximal 19p13.3 microduplication syndrome is a rare neurodevelopmental disorder characterised by developmental delay, intellectual disability, growth impairment and facial dysmorphism. However, recurrent der(17)-asso…
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Multiomic atlas of the developing thalamus reveals how neuronal identities emerge
A team from the Institute for Neurosciences (IN), a joint center of the Spanish National Research Council (CSIC) and Miguel Hernández University of Elche (UMH), has developed the first multiomic atlas of the mouse embryonic thalamus, providing a detail…
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The prevalence of Duchenne/Becker muscular dystrophy in the Russian Federation
IntroductionDuchenne and Becker muscular dystrophies (DMD/BMD) are among the most common inherited neuromuscular disorders worldwide. The reported prevalence of DMD is 7.1 cases per 100,000 adult males and 2.8 cases per 100,000 individuals in the gener…
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Dynamic tissue-specific mosaicism in constitutional non-supernumerary ring chromosome 21 with a Down syndrome-like phenotype: a case report and genotype-phenotype analysis
IntroductionRing chromosome 21 (r (21)) is a rare constitutional rearrangement involving terminal deletions and significant phenotypic heterogeneity. High-resolution genomic analyses have demonstrated that ring chromosomes may harbor complex genomic im…