98%
921
2 minutes
20
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.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3312749 | PMC |
http://dx.doi.org/10.1016/j.neurobiolaging.2011.08.005 | DOI Listing |
NPJ Precis Oncol
September 2025
Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden.
Breast cancer is a highly heterogeneous disease with diverse outcomes, and intra-tumoral heterogeneity plays a significant role in both diagnosis and treatment. Despite its importance, the spatial distribution of intra-tumoral heterogeneity is not fully elucidated. Spatial transcriptomics has emerged as a promising tool to study the molecular mechanisms behind many diseases.
View Article and Find Full Text PDFAJNR Am J Neuroradiol
September 2025
From the Department of Department of Radiology, Massachusetts General Hospital, Boston, MA, United States.
Background And Purpose: Low-level light therapy (LLLT) has been shown to modulate recovery in patients with traumatic brain injury (TBI). However, the longitudinal impact of LLLT on brain metabolites has not been studied. The purpose of this study was to use magnetic resonance spectroscopic imaging (MRSI) to assess the metabolic response of LLLT in patients with moderate TBI at acute (within 1 week), subacute (2-3 weeks), and late-subacute (3 months) recovery phases.
View Article and Find Full Text PDFProc Natl Acad Sci U S A
September 2025
Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kanpur 208016, India.
Agonist-induced interaction of G protein-coupled receptors (GPCRs) with β-arrestins (βarrs) is a critical mechanism that regulates the spatiotemporal pattern of receptor localization and signaling. While the underlying mechanism governing GPCR-βarr interaction is primarily conserved and involves receptor activation and phosphorylation, there are several examples of receptor-specific fine-tuning of βarr-mediated functional outcomes. Considering the key contribution of conformational plasticity of βarrs in driving receptor-specific functional responses, it is important to develop novel sensors capable of reporting distinct βarr conformations in cellular context.
View Article and Find Full Text PDFJ Neurooncol
September 2025
Department of Neurosurgery, Johns Hopkins School of Medicine, Baltimore, MD, USA.
Background And Objectives: Explore whether community social capital measures (system of resources available to individuals through community engagement) are related to surgical outcomes among intracranial tumor patients.
Methods: Adults who underwent resection at a single medical center for intracranial tumor was identified and their zip codes were matched to three variables derived from the Social Capital Atlas: economic connectedness, volunteering rate, and civic organizations. The economic connectedness score quantifies the degree to which low-income and high-income community members are friends with each other, the volunteering rate is defined as the proportion of a given community engaged in community organizations and the civic organization score is defined as the number of local civic organizations within a given community.
Nat Med
September 2025
Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Immune checkpoint blockade (ICB) is standard of care in advanced diffuse pleural mesothelioma (DPM), but its role in the perioperative management of DPM is unclear. In tandem, circulating tumor DNA (ctDNA) ultra-sensitive residual disease detection has shown promise in providing a molecular readout of ICB efficacy across resectable cancers. This phase 2 trial investigated neoadjuvant nivolumab and nivolumab/ipilimumab in resectable DPM along with tumor-informed liquid biopsy residual disease assessments.
View Article and Find Full Text PDF