Results 221 to 230 of about 1,144,164 (329)

Beyond the Human Genome Project: The Age of Complete Human Genome Sequences and Pangenome References. [PDF]

open access: yesAnnu Rev Genomics Hum Genet
Taylor DJ   +10 more
europepmc   +1 more source

Developmental, Neuroanatomical and Cellular Expression of Genes Causing Dystonia

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most common movement disorders, with variants in multiple genes identified as causative. However, an understanding of which developmental stages, brain regions, and cell types are most relevant is crucial for developing relevant disease models and therapeutics.
Darren Cameron   +5 more
wiley   +1 more source

Interpretation of Constitutional Cancer Predisposition Gene Variants in 14,765 Individuals in the 100,000 Genomes Project Cancer Arm

open access: green
James Whitworth   +6 more
openalex   +1 more source

O2‐10‐06: GENOME‐WIDE META‐ANALYSIS OF LATE‐ONSET ALZHEIMER'S DISEASE USING RARE VARIANT IMPUTATION IN 64,859 SUBJECTS IDENTIFIES RISK LOCI WITH ROLES IN INNATE IMMUNITY AND CARDIOVASCULAR TRAITS: THE INTERNATIONAL GENOMICS OF ALZHEIMER'S PROJECT (IGAP) [PDF]

open access: bronze, 2019
Adam C. Naj   +29 more
openalex   +1 more source

LOXHD1 and RHOB Expression by Monocytes Predicts Progressive Systemic Sclerosis associated Interstitial Lung Disease

open access: yesArthritis Care &Research, Accepted Article.
Objective A leading cause of death among scleroderma (SSc) patients, interstitial lung disease (ILD) remains challenging to prognosticate. The discovery of biomarkers that accurately determine which patients would benefit from close monitoring and aggressive therapy would be an essential clinical tool.
Cristina M Padilla   +13 more
wiley   +1 more source

Synergistic Roles of FAHD‐1 and PYC‐1 in Mitochondrial Function, Behavior, and Longevity in C. elegans

open access: yesAdvanced Biology, EarlyView.
FAHD‐1 and PYC‐1 catalyze opposing mitochondrial reactions that regulate oxaloacetate homeostasis in Caenorhabditis elegans. Using single and double knockouts, this study reveals that both enzymes shape locomotion, reproduction, respiration, and lifespan.
Riccardo Giaquinta   +3 more
wiley   +1 more source

The Building Data Genome Project 2, energy meter data from the ASHRAE Great Energy Predictor III competition. [PDF]

open access: yesSci Data, 2020
Miller C   +9 more
europepmc   +1 more source

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