Leveraging linkage evidence to identify low-frequency and rare variants on 16p13 associated with blood pressure using TOPMed whole genome sequencing data.
He, Karen Y; Li, Xiaoyin; Kelly, Tanika N; Liang, Jingjing; Cade, Brian E; Assimes, Themistocles L; Becker, Lewis C; Beitelshees, Amber L; Bress, Adam P; Chang, Yen-Pei Christy; Chen, Yii-Der Ida; de Vries, Paul S; Fox, Ervin R; Franceschini, Nora; Furniss, Anna; Gao, Yan; Guo, Xiuqing; Haessler, Jeffrey; Hwang, Shih-Jen; Irvin, Marguerite Ryan; Kalyani, Rita R; Liu, Ching-Ti; Liu, Chunyu; Martin, Lisa Warsinger; Montasser, May E; Muntner, Paul M; Mwasongwe, Stanford; Palmas, Walter; Reiner, Alex P; Shimbo, Daichi; Smith, Jennifer A; Snively, Beverly M; Yanek, Lisa R; Boerwinkle, Eric; Correa, Adolfo; Cupples, L Adrienne; He, Jiang; Kardia, Sharon L R; Kooperberg, Charles; Mathias, Rasika A; Mitchell, Braxton D; Psaty, Bruce M; Vasan, Ramachandran S; Rao, D C; Rich, Stephen S; Rotter, Jerome I; Wilson, James G; Chakravarti, Aravinda; Morrison, Alanna C; Levy, Daniel.
; 138(2): 199-210, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30671673
Rare variants in fox-1 homolog A (RBFOX1) are associated with lower blood pressure.
Splicing factor gene mutations in hematologic malignancies.
The surveillance of pre-mRNA splicing is an early step in <i>C. elegans</i> RNAi of endogenous genes.
[Concurrent CALR and SF3B1 gene mutations in a patient with myelodysplastic/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis].
The intron in centromeric noncoding RNA facilitates RNAi-mediated formation of heterochromatin.
Saturation mutagenesis reveals manifold determinants of exon definition.
RBFox2 Binds Nascent RNA to Globally Regulate Polycomb Complex 2 Targeting in Mammalian Genomes.
An important class of intron retention events in human erythroblasts is regulated by cryptic exons proposed to function as splicing decoys.
Splicing Factor Mutations in Myelodysplasias: Insights from Spliceosome Structures.
Splicing-factor alterations in cancers.