|
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 |
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 |
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 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 1
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Nasu-Hakola (NHD) disease is considered a primary microgliopathy with alterations of the DNAX activation protein 12 (DAP12)-Triggering receptor expressed on myeloid cells 2 (TREM-2) signaling and removal of macromolecules and apoptotic cells followed by secondary microglia activation.
|
28674485 |
2017 |
|
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1
|
0.500 |
Biomarker
|
disease |
BEFREE |
The molecules responsible are DAP12 or TREM2 in NHD and CSF1R in HDLS, respectively, but further studies are needed to clarify how exactly these microglial molecules influence the pathogenesis of axonal and myelin loss.
|
27859676 |
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 |
|
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 |
AlteredExpression
|
disease |
BEFREE |
The highly different expression of DAP12 represents the first description of such variable expressivity in NHD microglia.
|
26001891 |
2015 |
|
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A practical approach to diagnosing adult onset leukodystrophies.
|
24357685 |
2014 |
|
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in DNAX-activation protein 12 (DAP12) and triggering receptor expressed on myeloid cells 2 (TREM2) are the known genetic causes of NHD.
|
24612676 |
2014 |
|
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1
|
0.500 |
Biomarker
|
disease |
BEFREE |
We report the clinical case of a 43year old Italian woman and her family with Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL), also known as Nasu-Hakola disease.
|
23399524 |
2013 |
|
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1
|
0.500 |
Biomarker
|
disease |
BEFREE |
These results suggest that a molecular defect of DAP12 in human monocytes deregulates the gene network pivotal for maintenance of myeloid cell function in NHD.
|
22080356 |
2012 |
|
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
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, macrophages, and microglia.
|
21834902 |
2011 |
|
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1
|
0.500 |
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 1
|
0.500 |
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 1
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This is the first case of NHD caused by compound heterozygosity for loss-of-function mutations in DAP12.
|
17125796 |
2007 |
|
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1
|
0.500 |
Biomarker
|
disease |
BEFREE |
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), or Nasu-Hakola disease, is a presenile dementia associated with loss of myelin, basal ganglia calcification, and bone cysts.
|
15883308 |
2005 |
|
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 |
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 1
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
|
|
|