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

By J. Paloneva, T. Manninen, G. Christman, K. Hovanes, J. Mandelin, Rolf Adolfsson, M. Bianchin, T. Bird, R. Miranda, A. Salmaggi and 3 more. American Journal of Human Genetics, 2002

691 citations recorded by the source corpus.

Subfields: Immunology, Neurology

View Paper: https://www.semanticscholar.org/paper/46a55875ddc4f60bee3898bd442703dfd7cde359

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Immunology

1. R. Ransohoff
2. M. Colonna
3. D. Holtzman
4. Kaoru Saijo
5. Tadatsugu Taniguchi
6. Jin-Tai Yu
7. L. Tan
8. V. Perry

In Neurology

1. R. Ransohoff
2. D. Holtzman
3. M. Colonna
4. Christopher K. Glass
5. Kaoru Saijo
6. L. Tan
7. Jin-Tai Yu
8. V. Perry

Citations in the corpus

• TREM2 lipid sensing sustains microglia response in an Alzheimer’s disease model (2015, positive): “…homozygous for rare mutations that impair expression of either TREM2 or DAP12, develop lethal forms of progressive, early-onset dementia such as Nasu-Hakola disease (NHD) and frontotemporal dementia (Guerreiro et al., 2013a; Guerreiro et al., 2013c; Kleinberger et al., 2014; Paloneva et al., 2002).”
• TREM2-mediated early microglial response limits diffusion and toxicity of amyloid plaques (2016, background): “TREM2 is a cell surface receptor of the Ig superfamily that is expressed in microglia of the central nervous system and in other tissue macrophages, and binds phospholipids and other polyanionic ligands (Paloneva et al., 2002; Daws et al., 2003; Cannon et al., 2012; Wang et al., 2015).”
• TYROBP in Alzheimer’s Disease (2015, background): “However, in some families, no mutation was found in TYROBP suggesting that the disease is characterized by genetic heterogeneity [50].”
• TREMs in the immune system and beyond (2003, background): “Unexpectedly, recent analysis of patients with Nasu-Hakola disease, who have an intact gene encoding DAP12 and normal expression levels of DAP12, indicated loss-of-function mutations in TREM2 (Ref”
• Alzheimer's disease risk genes and mechanisms of disease pathogenesis (2014, neutral): “Homozygous mutations in TREM2 are associated with autosomal recessive forms of dementia with bone cysts and fractures (95).”
• Cutting Edge: TREM-2 Attenuates Macrophage Activation1 (2006, background): “These patients develop Nasu-Hakola disease, which is characterized by bone cysts and demyelinating lesions in the CNS that ultimately result in fatal presenile dementia (3).”
• Microglial cell origin and phenotypes in health and disease (2011, background): “In humans, homozygous loss-of-function mutations affecting either DAP12 or TREM2 result in Nasu–Hakola diseas”
• Costimulatory signals mediated by the ITAM motif cooperate with RANKL for bone homeostasis (2004, background): “The mutations of the ITAM-harbouring adaptors and their associating receptors are related to pathological conditions in the skeletal syste”
• Microglial physiology: unique stimuli, specialized responses. (2009, background): “The genetic causes of basal ganglia calcification, dementia, and bone cysts: DAP12 and TREM2.”