POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
|
0.700 |
Biomarker
|
disease |
BEFREE |
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL; MIM 221770), also known as Nasu-Hakola disease, is a recessively inherited disease characterized by a combination of psychotic symptoms rapidly progressing to presenile dementia and bone cysts restricted to wrists and ankles.
|
10888890 |
2000 |
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The authors compare neurologic and neuroradiologic follow-up data of six patients carrying TREM2 mutations with PLOSL due to defective DAP12 genes.
|
15883308 |
2005 |
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
C9ORF72 expansion does not affect the phenotype in Nasu-Hakola disease with the DAP12 mutation.
|
24612676 |
2014 |
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
|
0.700 |
Biomarker
|
disease |
BEFREE |
Nasu-Hakola disease (polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy--PLOSL): a dementia associated with bone cystic lesions. From clinical to genetic and molecular aspects.
|
15049507 |
2004 |
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
|
0.700 |
Biomarker
|
disease |
BEFREE |
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL): a new report of an Italian woman and review of the literature.
|
23399524 |
2013 |
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In the systematic review, 12 biallelic TREM2 mutations (e.g., rs104894002, rs201258663 (rs201258663" genes_norm="54209">T66M), and rs386834144, etc.) have been described to cause Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL) in 14 families.
|
30883352 |
2019 |
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
|
0.700 |
Biomarker
|
disease |
BEFREE |
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLO-SL) is a rare hereditary disease affecting both brain and bones.
|
2295586 |
1990 |
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in TYROBP and TREM2 have been shown to cause polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy.
|
28716534 |
2017 |
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In this paper, we have studied polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), an early onset dementia with bone fractures caused by mutations in TYROBP (DAP12) and TREM2 genes, which encode important signaling molecules in human dendritic cells (DCs).
|
17530208 |
2007 |
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Developmental regulation of TREM2 and DAP12 expression in the murine CNS: implications for Nasu-Hakola disease.
|
18404378 |
2009 |
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
|
0.700 |
Biomarker
|
disease |
BEFREE |
We show that DAP12-deficient mouse B cells and B cells from a patient with Nasu-Hakola disease, a recessive genetic disorder resulting from loss of DAP12, showed enhanced proliferation after stimulation with anti-IgM or CpG.
|
21727189 |
2011 |
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Variable expression of microglial DAP12 and TREM2 genes in Nasu-Hakola disease.
|
26001891 |
2015 |
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Homozygous mutations inactivating TREM2 or DAP12 lead to Nasu-Hakola disease; however, how AD risk-conferring variants increase AD risk is not clear.
|
28077724 |
2017 |
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Homozygous mutations in TREM2 or DAP12 cause Nasu-Hakola disease, which is characterized by bone abnormalities and dementia.
|
26694609 |
2016 |
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Plasma membrane receptors play primary roles as activators of microglia and in this review, we focus on a receptor complex involving triggering receptor expressed on myeloid cells 2 (TREM2) and DNAX-activating protein of 12 kDa (DAP12), both of which are causative genes for Nasu-Hakola disease, a dementia with bone cysts.
|
30127720 |
2018 |
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
|
0.700 |
Biomarker
|
disease |
BEFREE |
Gene expression profile of THP-1 monocytes following knockdown of DAP12, a causative gene for Nasu-Hakola disease.
|
22080356 |
2012 |
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
|
0.700 |
Biomarker
|
disease |
BEFREE |
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), Nasu-Hakola disease, is a globally distributed recessively inherited disease.
|
12925681 |
2003 |
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A novel compound heterozygous mutation in the DAP12 gene in a patient with Nasu-Hakola disease.
|
17125796 |
2007 |
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Here, we studied the PLOSL<sub>FIN</sub>TYROBP deletion that covers 4 of the gene's 5 exons.
|
29336840 |
2018 |
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Notably, loss-of-function mutations of either <i>DAP12</i> or <i>TREM2</i> result in a disorder known as Nasu-Hakola disease (NHD); and mutations of these genes have been associated with the risk for Alzheimer's disease (AD), suggesting that TREM2 and DAP12 may regulate common signaling pathways in the disease pathogenesis.
|
28680398 |
2017 |
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Plasma membrane receptors play primary roles as activators of microglia and in this review, we focus on a receptor complex involving triggering receptor expressed on myeloid cells 2 (TREM2) and DNAX-activating protein of 12 kDa (DAP12), both of which are causative genes for Nasu-Hakola disease, a dementia with bone cysts.
|
30127720 |
2018 |
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1
|
0.500 |
Biomarker
|
disease |
BEFREE |
TREM2 and TYROBP are causal genes for Nasu-Hakola disease (NHD), a rare autosomal recessive disease characterized by bone lesions and early-onset progressive dementia.
|
26332043 |
2015 |
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Nasu-Hakola disease (polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy--PLOSL): a dementia associated with bone cystic lesions. From clinical to genetic and molecular aspects.
|
15049507 |
2004 |
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in TREM2 and TYROBP genes are known to cause NHD.
|
28214109 |
2017 |
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Homozygous mutations in TREM2 or DAP12 cause Nasu-Hakola disease, which is characterized by bone abnormalities and dementia.
|
26694609 |
2016 |