Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype.

American journal of human genetics - 1 Sept 2002

Paloneva Juha, Manninen Tuula, Christman Grant, Hovanes Karine, Mandelin Jami, Adolfsson Rolf, Bianchin Marino, Bird Thomas, Miranda Roxana, Salmaggi Andrea, Tranebjaerg Lisbeth, Konttinen Yrjö, Peltonen Leena

Abstract excerpt

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), also known as "Nasu-Hakola disease," is a globally distributed recessively inherited disease leading to death during the 5th decade of life and is characterized by early-onset progressive dementia and bone cysts. Elsewhere, we have identified PLOSL mutations in TYROBP (DAP12), which codes for a membrane receptor component in...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Actins
Share to Adaptor Proteins, Signal Transducing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Expression Profiling

Share to Macromolecular Substances

Share to Membrane Glycoproteins

Share to Protein Subunits

Share to Receptors, Immunologic

Share to Reverse Transcriptase Polymerase Chain Reaction

Source

Open in PubMed Open full text

Identifiers

PMID: 12080485
DOI: 10.1086/342259
PMCID: PMC379202

Genes

TYROBP
TREM2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype.PMID 12080485Read ↗

Nasu-Hakola disease (polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy--PLOSL): a dementia associated with bone cystic lesions. From clinical to genetic and molecular aspects.Semantic proximity Read ↗

DAP12/TREM2 deficiency results in impaired osteoclast differentiation and osteoporotic features.Semantic proximity Read ↗

Monoallelic<i>TYROBP</i>deletion is a novel risk factor for Alzheimer’s diseaseSemantic proximity Read ↗

Monoallelic TYROBP deletion is a novel risk factor for Alzheimer's disease.Semantic proximity Read ↗

Contributions of triggering-receptor-expressed-on-myeloid-cells-2 to neurological diseasesSemantic proximity Read ↗

Variants in triggering receptor expressed on myeloid cells 2 are associated with both behavioral variant frontotemporal lobar degeneration and Alzheimer's disease.Semantic proximity Read ↗

The Triggering Receptor Expressed on Myeloid Cells 2: A Molecular Link of Neuroinflammation and Neurodegenerative Diseases.Semantic proximity Read ↗

Novel TREM2 splicing isoform that lacks the V-set immunoglobulin domain is abundant in the human brainSemantic proximity Read ↗

Nasu-Hakola disease: a rare entity in Italy. Critical review of the literature.Semantic proximity Read ↗

A novel mutation in TREM2 gene causing Nasu-Hakola disease and review of the literature.Semantic proximity Read ↗

Mutations in TREM2 lead to pure early-onset dementia without bone cysts.Semantic proximity Read ↗

TREM2 in CNS homeostasis and neurodegenerative disease.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.