Results 231 to 240 of about 1,210,893 (313)

P192: CRISPR-mediated base editing of the Irish infantile Tay-Sachs mutation

Genetics in Medicine Open
Madison Hernandez, Cynthia Tifft
doaj   +1 more source

Predicting CTCF cell type active binding sites in human genome. [PDF]

Sci Rep
Chai L, Gao J, Li Z, Sun H, Liu J, Wang Y, Zhang L.   +6 more
europepmc   +1 more source

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

Arthritis 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, Robert Lafyatis, Kevin F Gibson, Christina Morse, Eleanor Valenzi, Xiaoping Chen, Xiaoyun Li, Yanwu Zhao, Yongseok Park, Dana Ascherman, Jonathan Minden, Robyn Domsic, Yingze Zhang, Daniel J Kass   +13 more
wiley   +1 more source

Sequence basis of transcription initiation in the human genome. [PDF]

Science
Dudnyk K, Cai D, Shi C, Xu J, Zhou J.
europepmc   +1 more source

Response to allopurinol and febuxostat according to the fractional excretion of urate in men with gout

Arthritis Care &Research, Accepted Article.
Background Body mass index (BMI), glomerular filtration rate (GFR), and pretreatment urate levels have been reported to influence the urate‐lowering response to allopurinol. We investigated whether the fractional excretion of urate (FEUA) also modulates this response and relates to oxypurinol concentrations. We further evaluated its potential influence
Pascal Richette, Anouk Walter‐Petrich, Quang Dinh Nguyen, Matthieu Resche‐Rigon, Quang Huy Dinh Nguyen, Minh Duc Do, Thao Phuong Mai, Tuan Duc Nguyen, Fernando Perez‐Ruiz, Emmanuel Letavernier, Tristan Pascart, Augustin Latourte, Hang Korng Ea, Thomas Bardin   +13 more
wiley   +1 more source

Full-resolution HLA and KIR gene annotations for human genome assemblies. [PDF]

Genome Res
Zhou Y, Song L, Li H.
europepmc   +1 more source

Validation of a Genetic Risk Score Combined with Clinical Variables for Predicting Pulmonary Fibrosis in early Rheumatoid Arthritis

Arthritis Care &Research, Accepted Article.
Objectives Pulmonary fibrosis (PF) is a severe extra‐articular manifestation of rheumatoid arthritis (RA). The study aimed to externally validate a genetic risk score (GRS) and a combined risk score for predicting the risk of RA‐associated PF in an independent cohort of early‐RA patients. Methods This study utilized an inception cohort of 1118 patients
Mikael Brink, Austin Wheeler, Bryant R. England, Solbritt Rantapää‐Dahlqvist   +3 more
wiley   +1 more source

Constraining models of dominance for nonsynonymous mutations in the human genome. [PDF]

PLoS Genet
Kyriazis CC, Lohmueller KE.
europepmc   +1 more source

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

Advanced 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, Andreas Andric, Matthias Scheppach, Alexander K. H. Weiss   +3 more
wiley   +1 more source

SUMMER: an integrated nanopore sequencing pipeline for variants detection and clinical annotation on the human genome. [PDF]

Funct Integr Genomics
Li R, Chu H, Gao K, Luo H, Jiang Y.
europepmc   +1 more source