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The molecular regulation of human hematopoietic stem cell (HSC) maintenance is therapeutically important, but limitations in experimental systems and interspecies variation have constrained our knowledge of this process. Here, we have studied a rare genetic disorder due toMECOMhaploinsufficiency, characterized...
all but nine of the nearly 1,500 genes known to be linked to intellectual disability in general areprotein-coding genes. Most large genetic studies so far have used a sequencing technology that typically leaves out genes that don't code for...
The latter may account for up to 50% of the ID cases, and even more of the severe forms.1 Considering its heterogeneity, it has been proposed that ID may be caused in large part by rare genetic variants. Linkage analysis based on homozygosity mapping can help identify such rare variants ...
We conducted a pre-registered (PROSPERO: CRD42022304281) systematic review and multilevel meta-analysis encompassing 137 studies in the meta-analysis and 75 additional studies in the systematic review (n = 12,966 individuals, search via Google Scholar, PubMed and Web of Science until 1 ...
Furthermore, through rare variant burden testing, we discover 13 genes with high mutational load, including 5 with impact on traits relevant to disease conditions, including metabolic disorder and type 2 diabetes, consistent with the high prevalence of these conditions in the region. Conclusions This...
Genetic loss of Dis3L2 causes Perlman syndrome, a congenital overgrowth disorder that is characterized by developmental delay, renal abnormalities, neonatal mortality and high rates of Wilms’ tumors1. The first reported physiological substrates of Dis3L2 were the uridylated precursors of let-7 micr...
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