Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

BW Kunkle, B Grenier-Boley, R Sims, JC Bis… - Nature …, 2019 - nature.com
Risk for late-onset Alzheimer's disease (LOAD), the most prevalent dementia, is partially
driven by genetics. To identify LOAD risk loci, we performed a large genome-wide …

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

R Sims, SJ Van Der Lee, AC Naj, C Bellenguez… - Nature …, 2017 - nature.com
We identified rare coding variants associated with Alzheimer's disease in a three-stage case–
control study of 85,133 subjects. In stage 1, we genotyped 34,174 samples using a whole …

[HTML][HTML] Multiomic analysis of malignant pleural mesothelioma identifies molecular axes and specialized tumor profiles driving intertumor heterogeneity

L Mangiante, N Alcala, A Sexton-Oates, A Di Genova… - Nature Genetics, 2023 - nature.com
Malignant pleural mesothelioma (MPM) is an aggressive cancer with rising incidence and
challenging clinical management. Through a large series of whole-genome sequencing …

Genomic insights into population history and biological adaptation in Oceania

J Choin, J Mendoza-Revilla, LR Arauna… - Nature, 2021 - nature.com
The Pacific region is of major importance for addressing questions regarding human
dispersals, interactions with archaic hominins and natural selection processes. However, the …

Genome-wide nucleosome specificity and function of chromatin remodellers in ES cells

M De Dieuleveult, K Yen, I Hmitou, A Depaux… - Nature, 2016 - nature.com
ATP-dependent chromatin remodellers allow access to DNA for transcription factors and the
general transcription machinery, but whether mammalian chromatin remodellers,, target …

cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing

C Uggenti, A Lepelley, M Depp, AP Badrock… - Nature Genetics, 2020 - nature.com
Inappropriate stimulation or defective negative regulation of the type I interferon response
can lead to autoinflammation. In genetically uncharacterized cases of the type I …

Wnt4 overexpression disrupts normal testicular vasculature and inhibits testosterone synthesis by repressing steroidogenic factor 1/β-catenin synergy

BK Jordan, JHC Shen, R Olaso… - Proceedings of the …, 2003 - National Acad Sciences
Genetic studies in mice suggest that Wnt4 signaling antagonizes expression of male
hormones and effectively blocks male development in the female embryo. We recently …

[HTML][HTML] Histone variant H2A. J accumulates in senescent cells and promotes inflammatory gene expression

K Contrepois, C Coudereau, BA Benayoun… - Nature …, 2017 - nature.com
The senescence of mammalian cells is characterized by a proliferative arrest in response to
stress and the expression of an inflammatory phenotype. Here we show that histone H2A. J …

MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects

J Coursimault, AM Guerrot, MM Morrow, C Schramm… - Human genetics, 2022 - Springer
Pathogenic variants of the myelin transcription factor-1 like (MYT1L) gene include
heterozygous missense, truncating variants and 2p25. 3 microdeletions and cause a …

[HTML][HTML] Modulation of astrocyte reactivity improves functional deficits in mouse models of Alzheimer's disease

K Ceyzériat, L Ben Haim, A Denizot, D Pommier… - Acta neuropathologica …, 2018 - Springer
Astrocyte reactivity and neuroinflammation are hallmarks of CNS pathological conditions
such as Alzheimer's disease. However, the specific role of reactive astrocytes is still …