Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing
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 …
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 …
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
Malignant pleural mesothelioma (MPM) is an aggressive cancer with rising incidence and
challenging clinical management. Through a large series of whole-genome sequencing …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
such as Alzheimer's disease. However, the specific role of reactive astrocytes is still …