User profiles for J. A. Shavit
 | Jordan ShavitProfessor of Pediatrics, University of Michigan Verified email at umich.edu Cited by 3303 |
[PDF][PDF] Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease
Biobanks facilitate genome-wide association studies (GWASs), which have mapped genomic
loci across a range of human diseases and traits. However, most biobanks are primarily …
loci across a range of human diseases and traits. However, most biobanks are primarily …
Biobank-driven genomic discovery yields new insight into atrial fibrillation biology
To identify genetic variation underlying atrial fibrillation, the most common cardiac arrhythmia,
we performed a genome-wide association study of >1,000,000 people, including 60,620 …
we performed a genome-wide association study of >1,000,000 people, including 60,620 …
The world according to Maf
Maf family proteins are so named because of their structural similarity to the founding member,
the oncoprotein v-Maf. The small Maf proteins (MafF, MafG and MafK), as do all family …
the oncoprotein v-Maf. The small Maf proteins (MafF, MafG and MafK), as do all family …
[PDF][PDF] Meta-analysis fine-mapping is often miscalibrated at single-variant resolution
Meta-analysis is pervasively used to combine multiple genome-wide association studies (GWASs).
Fine-mapping of meta-analysis studies is typically performed as in a single-cohort …
Fine-mapping of meta-analysis studies is typically performed as in a single-cohort …
[HTML][HTML] Positive or negative MARE-dependent transcriptional regulation is determined by the abundance of small Maf proteins
The small Maf transcription factor proteins bind to Ma f R ecognition E lements (MAREs) by
dimerizing with CNC proteins or themselves. We undertook experiments to clarify the …
dimerizing with CNC proteins or themselves. We undertook experiments to clarify the …
[PDF][PDF] Global Biobank analyses provide lessons for developing polygenic risk scores across diverse cohorts
Polygenic risk scores (PRSs) have been widely explored in precision medicine. However,
few studies have thoroughly investigated their best practices in global populations across …
few studies have thoroughly investigated their best practices in global populations across …
Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association
…, D Siemieniak, Y Kalish, JA Shavit… - Proceedings of the …, 2013 - National Acad Sciences
The plasma glycoprotein von Willebrand factor (VWF) exhibits fivefold antigen level variation
across the normal human population determined by both genetic and environmental factors…
across the normal human population determined by both genetic and environmental factors…
Synergistic regulation of human beta-globin gene switching by locus control region elements HS3 and HS4.
…, U Davé, KC Lim, KH Lieuw, JA Shavit… - Genes & …, 1995 - genesdev.cshlp.org
Proper tissue- and developmental stage-specific transcriptional control over the five genes
of the human beta-globin locus is elicited in part by the locus control region (LCR), but the …
of the human beta-globin locus is elicited in part by the locus control region (LCR), but the …
Exocyst function regulated by effector phosphorylation
The exocyst complex tethers vesicles at sites of fusion through interactions with small GTPases.
The G protein RalA resides on Glut4 vesicles, and binds to the exocyst after activation by …
The G protein RalA resides on Glut4 vesicles, and binds to the exocyst after activation by …
pak2a mutations cause cerebral hemorrhage in redhead zebrafish
The zebrafish is a powerful model for studying vascular development, demonstrating
remarkable conservation of this process with mammals. Here, we identify a zebrafish mutant, …
remarkable conservation of this process with mammals. Here, we identify a zebrafish mutant, …