WebAug 31, 2011 · Background: Nasu–Hakola disease (NHD) is a rare autosomal recessive disorder, characterized by a combination of progressive presenile dementia and formation of multifocal bone cysts, caused by genetic mutations of DAP12 and TREM2, which constitute a receptor/adapter signaling complex expressed on osteoclasts, dendritic cells, … WebJul 23, 2024 · Nasu-Hakola disease (NHD) is a rare autosomal recessive disorder characterized by progressive presenile dementia and bone cysts, caused by variants in …
TREM2: Modulator of Lipid Metabolism in Microglia
WebDec 1, 2024 · TREM2 단백질은 미세교세포 세포막을 통과하며 자리를 잡고 있다. ... (Nasu-Hakola disease, 이하 NHD) 환자들의 대부분은 청소년기에 이미 치매 증상이 나타나기 시작해 사망에 이르기까지 진행성 치매와 골낭종(bone cysts)으로 고통 받으며 약 … WebMar 30, 2024 · Kinney JW, Bemiller SM, Murtishaw AS, Leisgang AM, Salazar AM, Lamb BT. Inflammation as a central mechanism in Alzheimer's disease. Alzheimers Dement (N Y). 2024 Sep ... sibe collective
A novel mutation in TREM2 gene causing Nasu-Hakola disease …
WebExplore 22 research articles published by the author Lindsay A. Farrer from Boston University in the year 2024. The author has contributed to research in topic(s): Genome-wide association study & Single-nucleotide polymorphism. The author has an hindex of 104, co-authored 572 publication(s) receiving 49161 citation(s). Previous affiliations of Lindsay A. … WebDocument: BACKGROUND Nasu-Hakola disease (NHD) is a rare, autosomal recessive disorder characterized by skeletal and neurological symptoms. ... METHOD Fourteen patients carrying a pathogenic mutation in the TREM2 gene were found in our database. WebInflammation is tightly regulated by a vast system that is intricately interconnected with innate immunity. Aberrations in expression or signaling, such as in innate immune receptors, can create ex... the people tabernacle church face book