Lauren E. Fries
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View article: Synergistic effects of <i>Ret</i> coding and enhancer loss-of-function alleles cause progressive loss of inhibitory motor neurons in the enteric nervous system
Synergistic effects of <i>Ret</i> coding and enhancer loss-of-function alleles cause progressive loss of inhibitory motor neurons in the enteric nervous system Open
Hirschsprung disease (HSCR) is a congenital enteric neuropathy caused by disrupted migration, proliferation, and/or differentiation of enteric neural crest-derived cells (ENCDCs), with pathogenic variants at RET accounting for a major frac…
View article: Single-Cell RNA-Seq Reveals Adventitial Fibroblast Alterations during Mouse Atherosclerosis
Single-Cell RNA-Seq Reveals Adventitial Fibroblast Alterations during Mouse Atherosclerosis Open
Background Atherosclerotic cardiovascular disease (ASCVD) remains the leading cause of mortality in the western world despite the success of lipid lowering therapies, highlighting the need for novel lipid-independent therapeutic strategies…
View article: Variability in proliferative and migratory defects in Hirschsprung disease-associated<i>RET</i>pathogenic variants
Variability in proliferative and migratory defects in Hirschsprung disease-associated<i>RET</i>pathogenic variants Open
Despite the extensive genetic heterogeneity of Hirschsprung disease (HSCR; congenital colonic aganglionosis) 72% of patients harbor pathogenic variants in 10 genes that form a gene regulatory network (GRN) controlling the development of th…
View article: RET enhancer haplotype-dependent remodeling of the human fetal gut development program
RET enhancer haplotype-dependent remodeling of the human fetal gut development program Open
Hirschsprung disease (HSCR) is associated with deficiency of the receptor tyrosine kinase RET, resulting in loss of cells of the enteric nervous system (ENS) during fetal gut development. The major contribution to HSCR risk is from common …
View article: <i>RET</i> enhancer haplotype-dependent remodeling of the human fetal gut development program
<i>RET</i> enhancer haplotype-dependent remodeling of the human fetal gut development program Open
Hirschsprung disease (HSCR) is associated with deficiency of the receptor tyrosine kinase RET, resulting in loss of cells of the enteric nervous system (ENS) during fetal gut development. The major contribution to HSCR risk is from common …
View article: A multi-enhancer <i>RET</i> regulatory code is disrupted in Hirschsprung disease
A multi-enhancer <i>RET</i> regulatory code is disrupted in Hirschsprung disease Open
The major genetic risk factors for Hirschsprung disease (HSCR) are three common polymorphisms within cis -regulatory elements (CREs) of the receptor tyrosine kinase gene RET , which reduce its expression during enteric nervous system (ENS)…
View article: Additional file 1 of Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism
Additional file 1 of Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism Open
Additional file 1: Table S1: Coordinates in the human genome (build 38) of VISTA enhancers driving expression in the brain.
View article: Additional file 6 of Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism
Additional file 6 of Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism Open
Additional file 6: Table S10: should have the label "Phenotypes of individuals with coding and noncoding variants affecting EBF3.
View article: Additional file 4 of Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism
Additional file 4 of Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism Open
Additional file 4: Table S8: Protein-coding de novo mutations in EBF3 from Coe et al. 2019, Nature Genetics and Kaplanis et al. 2020, bioRxiv.
View article: Additional file 3 of Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism
Additional file 3 of Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism Open
Additional file 3: Table S7: should have the label "CNVs over hs737 in the morbidity map dataset.
View article: Additional file 5 of Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism
Additional file 5 of Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism Open
Additional file 5: Table S9: should have the label "NDD genes bound by EBF3.
View article: <i>De Novo</i>Mutation in an Enhancer of<i>EBF3</i>in simplex autism
<i>De Novo</i>Mutation in an Enhancer of<i>EBF3</i>in simplex autism Open
Previous research in autism and other neurodevelopmental disorders (NDDs) has indicated an important contribution of de novo protein-coding variants within specific genes. The role of de novo noncoding variation has been observable as a ge…
View article: A multi-enhancer<i>RET</i>regulatory code is disrupted in Hirschsprung disease
A multi-enhancer<i>RET</i>regulatory code is disrupted in Hirschsprung disease Open
The major genetic risk factors for Hirschsprung disease (HSCR) are three common polymorphisms within cis regulatory elements (CREs) of the RET receptor tyrosine kinase gene that reduce its gene expression during enteric nervous system (ENS…