Evidence map›Paper›PMID 38328106›Full record

ArticlebioRxiv : the preprint server for biology2024

A microglia clonal inflammatory disorder in Alzheimer's Disease.

Rocio Vicario, Stamatina Fragkogianni, Leslie Weber, Tomi Lazarov, Yang Hu, Samantha Y Hayashi, Barbara P Craddock, Nicholas D Socci, Araitz Alberdi, Ann Baako and 16 more

Open access · greenAbstract readPreprint
In one paragraph

Article in bioRxiv : the preprint server for biology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed, 5 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

26 authors at 5 institutions in 2 countries.

Rocio VicarioImmunology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, New York 10065, USA.
Stamatina FragkogianniImmunology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, New York 10065, USA.
Leslie WeberImmunology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, New York 10065, USA.
Tomi LazarovImmunology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, New York 10065, USA.ORCID 0000-0002-6312-0080
Yang HuDepartment of Physiology and Biophysics, Institute for Computational Biomedicine,Weill Cornell New York, NY 10021, USA.
Samantha Y HayashiDepartment of Physiology and Biophysics, Stony Brook University School of Medicine, Stony Brook, NY, 11794-8661.
Barbara P CraddockDepartment of Physiology and Biophysics, Stony Brook University School of Medicine, Stony Brook, NY, 11794-8661.
Nicholas D SocciMarie-Josée & Henry R. Kravis Center for Molecular Oncology, Memorial Sloan Kettering Cancer Center, New York, New York 10065, USA.
Araitz AlberdiImmunology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, New York 10065, USA.
Ann BaakoImmunology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, New York 10065, USA.
Oyku AyImmunology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, New York 10065, USA.
Masato OgishiSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, 10065 NY, USA.ORCID 0000-0003-2421-7389
Estibaliz Lopez-RodrigoImmunology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, New York 10065, USA.
Rajya KappagantulaHuman Oncology & Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, New York 10065, USA.
Agnes VialeMarie-Josée & Henry R. Kravis Center for Molecular Oncology, Memorial Sloan Kettering Cancer Center, New York, New York 10065, USA.
Christine A Iacobuzio-DonahueHuman Oncology & Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, New York 10065, USA.ORCID 0000-0002-4672-3023
Ting ZhouSKI Stem Cell Research Core, Memorial Sloan Kettering Cancer Center, New York, New York 10065, USA.
Richard M RansohoffThird Rock Ventures, Boston MA, USA.
Richard ChesworthThird Rock Ventures, Boston MA, USA.
Netherlands Brain Bank
Omar Abdel-WahabHuman Oncology & Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, New York 10065, USA.
Bertrand BoissonSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, 10065 NY, USA.
Olivier ElementoDepartment of Physiology and Biophysics, Institute for Computational Biomedicine,Weill Cornell New York, NY 10021, USA.
Jean-Laurent CasanovaSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, 10065 NY, USA.
W Todd MillerDepartment of Physiology and Biophysics, Stony Brook University School of Medicine, Stony Brook, NY, 11794-8661.
Frederic GeissmannImmunology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, New York 10065, USA.
Memorial Sloan Kettering Cancer Center · USCornell University · USStony Brook University · USThird Dimension Technologies (United States) · USRockefeller University · US

Funding

X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Hongbiao Carl Lekaye · 1985 to 2026
$347.4M
Macrophage development and specification in mice.R01AI130345 · NIAID · SLOAN-KETTERING INST CAN RESEARCH · PI Frederic Geissmann · 2017 to 2026
$5.7M
Role of Microglia Somatic Variants in Neurodegenerative DiseasesR01NS115715 · NINDS · SLOAN-KETTERING INST CAN RESEARCH · PI GEISSMANN, FREDERIC · 2019 to 2023
$5.0M
Lineages and pathophysiology of clonal histiocytic disordersR01HL138090 · NHLBI · SLOAN-KETTERING INST CAN RESEARCH · PI GEISSMANN, FREDERIC · 2017 to 2020
$2.9M
NCI NIH HHS P30 CA008748NHLBI NIH HHS R01 HL138090NIAID NIH HHS R01 AI130345NINDS NIH HHS R01 NS115715
6 · The paper itself

Abstract

Somatic genetic heterogeneity resulting from post-zygotic DNA mutations is widespread in human tissues and can cause diseases, however few studies have investigated its role in neurodegenerative processes such as Alzheimer's Disease (AD). Here we report the selective enrichment of microglia clones carrying pathogenic variants, that are not present in neuronal, glia/stromal cells, or blood, from patients with AD in comparison to age-matched controls. Notably, microglia-specific AD-associated variants preferentially target the MAPK pathway, including recurrent CBL ring-domain mutations. These variants activate ERK and drive a microglia transcriptional program characterized by a strong neuro-inflammatory response, both

Identifiers

PMID38328106
PMCPMC10849735
OpenAlexW4391239592

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.