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Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis
TLDR
The results suggest that genes involved in host defense, cell-cell adhesion and DNA repair contribute to risk of fibrotic IIPs. Expand
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies
TLDR
Clinical genotyping of patients with CHD may help to identify those at greatest risk of neurodevelopmental disabilities, allowing surveillance and early intervention and provide opportunities for improved prognostic assessment and early therapeutic intervention in CHD patients. Expand
GWAS of Cerebrospinal Fluid Tau Levels Identifies Risk Variants for Alzheimer’s Disease
TLDR
In independent data sets, rs9877502 showed a strong association with risk for AD, tangle pathology, and global cognitive decline, illustrating how this endophenotype-based approach can be used to identify new AD risk loci. Expand
Single-Cell Resolution of Temporal Gene Expression during Heart Development.
TLDR
This spatiotemporal transcriptome analysis of heart development reveals lineage-specific gene programs underlying normal cardiac development and congenital heart disease. Expand
A common genetic variant within SCN10A modulates cardiac SCN5A expression.
TLDR
By high-resolution 4C-seq analysis of the Scn10a-Scn5a locus in murine heart tissue, a genomic mechanism for how a common genetic variation at SCN10A influences cardiac physiology and predisposes to arrhythmia is established. Expand
Defects in GPI biosynthesis perturb Cripto signaling during forebrain development in two new mouse models of holoprosencephaly
TLDR
It is suggested that GPI biosynthesis genes should be screened for association with human holoprosencephaly and Cripto is the key GPI anchored protein whose altered function results in an HPE-like phenotype. Expand
ROCK Controls Matrix Synthesis in Vascular Smooth Muscle Cells: Coupling Vasoconstriction to Vascular Remodeling
TLDR
It is shown that inhibition of ROCK activity suppresses SMC TN-C expression and disease progression in hypertensive rat PAs, indicating that in addition to its role in regulating vasoconstriction, ROCK also controls matrix production. Expand
FAK induces expression of Prx1 to promote tenascin-C–dependent fibroblast migration
TLDR
A model whereby FAK induces Prx1, and subsequently the formation of a TN-C–enriched ECM that contributes to fibroblast migration is suggested. Expand
Paired-Related Homeobox Gene Prx1 Is Required for Pulmonary Vascular Development
TLDR
It is shown that the paired-related homeobox gene, Prx1, is required for lung vascularization and tenascin-C (TN-C), an extracellular matrix (ECM) protein induced by Prx2, is critical for expression of TN-C and lung vascularized cells. Expand
Fetal oxygen tension promotes tenascin‐C–dependent lung branching morphogenesis
TLDR
Fetal O2 tension promotes TN‐C–dependent lung epithelial branching morphogenesis by limiting the proteolytic turnover of this ECM component within the adjacent mesenchyme. Expand
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