Eric C Swindell
Overview
Explore the profile of Eric C Swindell including associated specialties, affiliations and a list of published articles.
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Articles
21
Citations
915
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Recent Articles
1.
Chiquet B, Yuan Q, Swindell E, Maili L, Plant R, Dyke J, et al.
Eur J Hum Genet
. 2018 Jun;
26(10):1441-1450.
PMID: 29899370
Orofacial development is a multifaceted process involving tightly regulated genetic signaling networks, that when perturbed, lead to orofacial abnormalities including cleft lip and/or cleft palate. We and others have shown...
2.
Yuan Q, Zhao M, Tandon B, Maili L, Liu X, Zhang A, et al.
Mol Genet Genomic Med
. 2017 Nov;
5(6):730-741.
PMID: 29178643
Background: Oligodontia is a severe form of tooth agenesis characterized by the absence of six or more permanent teeth. Oligodontia has complex etiology and variations in numerous genes have been...
3.
Egunsola A, Bae Y, Jiang M, Liu D, Chen-Evenson Y, Bertin T, et al.
J Clin Invest
. 2017 Mar;
127(4):1475-1484.
PMID: 28263186
Shohat-type spondyloepimetaphyseal dysplasia (SEMD) is a skeletal dysplasia that affects cartilage development. Similar skeletal disorders, such as spondyloepiphyseal dysplasias, are linked to mutations in type II collagen (COL2A1), but the...
4.
Kuang S, Medina-Martinez O, Guo D, Gong L, Regalado E, Reynolds C, et al.
J Clin Invest
. 2016 Feb;
126(3):948-61.
PMID: 26854927
The ascending thoracic aorta is designed to withstand biomechanical forces from pulsatile blood. Thoracic aortic aneurysms and acute aortic dissections (TAADs) occur as a result of genetically triggered defects in...
5.
Cvjetkovic N, Maili L, Weymouth K, Hashmi S, Mulliken J, Topczewski J, et al.
Mol Genet Genomic Med
. 2015 Oct;
3(5):440-51.
PMID: 26436110
Nonsyndromic cleft lip with or without cleft palate (NSCLP) is a common birth defect affecting 135,000 newborns worldwide each year. While a multifactorial etiology has been suggested as the cause,...
6.
Pinto C, Kalasekar S, McCollum C, Riu A, Jonsson P, Lopez J, et al.
Mol Cell Endocrinol
. 2015 Oct;
419:29-43.
PMID: 26427652
The Liver X Receptors (LXRs) play important roles in multiple metabolic pathways, including fatty acid, cholesterol, carbohydrate and energy metabolism. To expand the knowledge of the functions of LXR signaling...
7.
Swindell E, Yuan Q, Maili L, Tandon B, Wagner D, Hecht J
Genesis
. 2015 Aug;
53(10):660-7.
PMID: 26297922
The CAP superfamily member, CRISPLD2, has previously been shown to be associated with nonsyndromic cleft lip and palate (NSCLP) in human populations and to be essential for normal craniofacial development...
8.
Guo D, Gong L, Regalado E, Santos-Cortez R, Zhao R, Cai B, et al.
Am J Hum Genet
. 2015 Jan;
96(1):170-7.
PMID: 25557781
Up to 20% of individuals who have thoracic aortic aneurysms or acute aortic dissections but who do not have syndromic features have a family history of thoracic aortic disease. Significant...
9.
Keeley P, Luna G, Fariss R, Skyles K, Madsen N, Raven M, et al.
J Neurosci
. 2013 Nov;
33(45):17847-62.
PMID: 24198374
The present study examined the consequences of eliminating horizontal cells from the outer retina during embryogenesis upon the organization and assembly of the outer plexiform layer (OPL). Retinal horizontal cells...
10.
Lu F, Kar D, Gruenig N, Zhang Z, Cousins N, Rodgers H, et al.
J Neurosci
. 2013 Jan;
33(1):259-72.
PMID: 23283339
The brain plays a central role in controlling energy, glucose, and lipid homeostasis, with specialized neurons within nuclei of the mediobasal hypothalamus, namely the arcuate (ARC) and ventromedial (VMH), tasked...