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| http://dx.doi.org/10.3389/fgene.2021.821591 | DOI Listing |
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Genetics of intracerebral hemorrhage.
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January 2025
McCance Center for Brain Health, Massachusetts General Hospital, Boston, MA, USA.
Spontaneous intracerebral hemorrhage(ICH) represents a life-threatening form of stroke, marked by its impact on survival and quality of life. ICH can be categorized from monogenic disorders linked to causal germline variants in ICH-related genes to complex sporadic cases, highlighting the interaction among lifestyle factors, environmental influences, and genetic components in determining risk. Among sporadic ICH, the influence of these factors varies across ICH subtypes, evidenced by heritability rates of up to 73% for lobar ICH versus 34% for non-lobar ICH.
View Article and Find Full Text PDFBrain organoid methodologies to explore mechanisms of disease in progressive multiple sclerosis.
Front Cell Neurosci
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Department of Clinical Neurosciences and NIHR Biomedical Research Centre, University of Cambridge, Cambridge, United Kingdom.
Multiple sclerosis (MS), a debilitating autoimmune disorder targeting the central nervous system (CNS), is marked by relentless demyelination and inflammation. Clinically, it presents in three distinct forms: relapsing-remitting MS (RRMS), primary progressive MS (PPMS), and secondary progressive MS (SPMS). While disease-modifying therapies (DMTs) offer some relief to people with RRMS, treatment options for progressive MS (pMS) remain frustratingly inadequate.
View Article and Find Full Text PDFNavigating The Complex Path From Monogenic to Polygenic Clinical Genetic Testing in Hypertrophic Cardiomyopathy.
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Department of Experimental Cardiology, Amsterdam University Medical Centre, University of Amsterdam, Amsterdam, the Netherlands; Cardiovascular and Genomics Research Institute, City St. George's University of London, London, United Kingdom. Electronic address:
A polygenic risk score derived from common variants of monogenic diabetes genes is associated with young-onset type 2 diabetes and cardiovascular-kidney complications.
Diabetologia
February 2025
Department of Medicine and Therapeutics, Faculty of Medicine, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China.
Article Synopsis
- Monogenic diabetes results from rare gene mutations affecting beta cell function, and this study examines how common variants may also influence young-onset type 2 diabetes (YOD) and related health issues.
- Researchers created a weighted polygenic risk score (wPRS) using data from individuals with and without YOD to explore the association of 135 common variants across 34 monogenic diabetes genes.
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Uncovering the genetic basis of Parkinson's disease globally: from discoveries to the clinic.
Lancet Neurol
December 2024
Institute of Neurogenetics, University of Luebeck, Luebeck, Germany; Department of Neurology, University of Luebeck and University Hospital Schleswig-Holstein, Luebeck, Germany.
Article Synopsis
- Knowledge of the genetic factors contributing to Parkinson's disease has significantly expanded, starting from the identification of the first mutation in α-synuclein to discovering various other related genes.
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