We and others have recently reported an association between amyotrophic lateral sclerosis (ALS) and single nucleotide polymorphisms on chromosome 9p21 in several populations. Here we show that the associated haplotype is the same in all populations and that several families previously shown to have genetic linkage to this region also share this haplotype. The most parsimonious explanation of these data are that there is a single founder for this form of disease.
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http://dx.doi.org/10.1016/j.neurobiolaging.2011.08.005 | DOI Listing |
Life (Basel)
December 2024
Department of Translational Medical Sciences, Pediatric Section, Federico II University of Naples, 80131 Naples, Italy.
MyD88 deficiency is a rare inborn error of immunity (IEI) characterized by susceptibility to pyogenic infections without overt signs of inflammation. Half of the reported patients belong to Roma descent, an itinerant ethnic group living mostly in Europe, with an increased risk of childhood mortality due to limited access to healthcare services. We describe three unrelated patients from the Campania region in Italy with MyD88 deficiency, all belonging to Roma descent and displaying severe or recurrent infections in early infancy.
View Article and Find Full Text PDFNat Biotechnol
January 2025
Department of Brain and Cognitive Sciences, Massachusetts Institute of Technology (MIT), Cambridge, MA, USA.
Extending single-cell analysis to intact tissues while maintaining organ-scale spatial information poses a major challenge due to unequal chemical processing of densely packed cells. Here we introduce Continuous Redispersion of Volumetric Equilibrium (CuRVE) in nanoporous matrices, a framework to address this challenge. CuRVE ensures uniform processing of all cells in organ-scale tissues by perpetually maintaining dynamic equilibrium of the tissue's gradually shifting chemical environment.
View Article and Find Full Text PDFCommun Biol
January 2025
Division of Sleep and Circadian Disorders, Brigham and Women's Hospital, Boston, MA, USA.
Recent genome-wide association studies (GWASs) of several individual sleep traits have identified hundreds of genetic loci, suggesting diverse mechanisms. Moreover, sleep traits are moderately correlated, so together may provide a more complete picture of sleep health, while illuminating distinct domains. Here we construct novel sleep health scores (SHSs) incorporating five core self-report measures: sleep duration, insomnia symptoms, chronotype, snoring, and daytime sleepiness, using additive (SHS-ADD) and five principal components-based (SHS-PCs) approaches.
View Article and Find Full Text PDFInt J Cardiol
January 2025
Medical Genetics Unit, Romagna Agency of Health, Italy.
Background: non-syndromic dilated cardiomyopathy (DCM) is found to correlate with a genetic cause in 30-40 % of cases. The identification of a causative gene variant can guide treatment options and cascade testing of at-risk family members. Cardiomyopathy multigene panels are routinely used to identify the genetic cause, but often detect variants of uncertain significance (VUS).
View Article and Find Full Text PDFMol Cell Proteomics
January 2025
Smidt Heart Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048; Advanced Clinical Biosystems Research Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048; Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, CA 90048. Electronic address:
Single cell proteomics was performed on human induced pluripotent stem cells (iPSCs), iPSC-derived cardiomyocytes, and adult cardiomyocytes. Over 700 proteins could be simultaneously measured in each cell revealing unique subpopulations. A sub-set of iPSCs expressed higher levels of Lin28a and Tra-1-60 towards the outer edge of cell colonies.
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