Precise modulation of BRG1 levels reveals features of mSWI/SNF dosage sensitivity
BRG1 binding exhibits a linear response to its dosage In mES cells, Brg1 encodes the major catalytic subunit…
Tamoxifen induces PI3K activation in uterine cancer
Ethics statement This study complies with all relevant ethical regulations. TAMARISK specimens were obtained and sequenced with the…
A Japanese familial spastic paraplegia associated with a missense UBQLN2 variant
Statland JM, Barohn RJ, McVey AL, Katz JS, Dimachkie MM. Patterns of weakness, classification of motor neuron disease,…
KidneyGenAfrica, a pan-African partnership to deliver research and training excellence in genomics of kidney disease
Precision Healthcare University Research Institute, Queen Mary University of London, London, UK Segun Fatumo, Oyesola Ojewunmi, Rebecca Camenzuli, Christopher Kintu & Claudia Langenberg…
Tracing the evolution of single-cell 3D genomes in Kras-driven cancers
Ethics Statement All animal studies were approved by the Institutional Animal Care and Use Committee of Yale University.…
Large-scale genome-wide analyses of stuttering
Yairi, E. & Ambrose, N. Epidemiology of stuttering: 21st century advances. J. Fluen. Disord. 38, 66–87 (2013). Google…
LDAK-KVIK performs fast and powerful mixed-model association analysis of quantitative and binary phenotypes
Uffelmann, E. et al. Genome-wide association studies. Nat. Rev. Methods Prim. 1, 59 (2021). CAS Google Scholar Visscher,…
Comprehensive transcription factor perturbations recapitulate fibroblast transcriptional states
Regev, A. et al. The human cell atlas. eLife 6, e27041 (2017). PubMed PubMed Central Google Scholar Karlsson,…
Analysis of individual patient pathway coordination in a cross-species single-cell kidney atlas
GBD Chronic Kidney Disease Collaboration Global, regional, and national burden of chronic kidney disease, 1990–2017: a systematic analysis…
Genetic insights into the origin, admixture, and migration of the early Austronesian peoples
Shutler R, Marck JC. On the dispersal of the Austronesian horticulturalists. Archaeology Phys Anthropol Ocean. 1975;10:81–113. Google Scholar …
Uncovering the multivariate genetic architecture of frailty with genomic structural equation modeling
Fogg, C. et al. The dynamics of frailty development and progression in older adults in primary care in…
When ganglioside pathways go awry: congenital disorders and experimental insights
Thudichum JLW. A treatise on the chemical constitution of the brain: Bailliere, Tindall, and Cox, London; 1884. Chiricozzi…