Works Published in 2014

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2014 journal article

A single codon insertion in PICALM is associated with development of familial subvalvular aortic stenosis in Newfoundland dogs

Human Genetics, 133(9), 1139–1148.

By: J. Stern n, S. White*, L. Lehmkuhl, Y. Reina-Doreste n, J. Ferguson n, N. Nascone-Yoder n, K. Meurs*

MeSH headings : Animals; Aortic Stenosis, Subvalvular / genetics; Aortic Stenosis, Subvalvular / pathology; Aortic Stenosis, Subvalvular / veterinary; Base Sequence; Case-Control Studies; Clathrin / antagonists & inhibitors; Clathrin / genetics; Codon / genetics; Dog Diseases / genetics; Dog Diseases / pathology; Dogs; Female; Genetic Predisposition to Disease; Genome-Wide Association Study; Male; Molecular Sequence Data; Monomeric Clathrin Assembly Proteins / chemistry; Monomeric Clathrin Assembly Proteins / genetics; Monomeric Clathrin Assembly Proteins / metabolism; Mutagenesis, Insertional; Pedigree; Phosphatidylinositols / metabolism; Prospective Studies; Protein Conformation; Sequence Analysis, RNA; Sex Factors; Xenopus laevis / embryology
TL;DR: A three-nucleotide exonic insertion in phosphatidylinositol-binding clathrin assembly protein (PICALM) that is associated with the development of SAS in Newfoundlands is identified and the role of PICALM in OFT development may aid in future molecular and genetic investigations into other congenital heart defects of various species. (via Semantic Scholar)
UN Sustainable Development Goal Categories
14. Life Below Water (OpenAlex)
Source: Crossref
Added: July 20, 2019

2014 journal article

A Knock-in Foxj1(CreERT2:: GFP)Mouse for Recombination in Epithelial Cells with Motile Cilia

GENESIS, 52(4), 350–358.

By: N. Muthusamy n, A. Vijayakumar n, G. Cheng* & H. Ghashghaei n

author keywords: Foxj1; CreERT2::GFP; knock-in; ependymal cells; motile cilia; epithelial cells
MeSH headings : Animals; Cell Lineage; Choroid Plexus / cytology; Choroid Plexus / metabolism; Cilia / physiology; Epithelial Cells / metabolism; Epithelial Cells / ultrastructure; Female; Forkhead Transcription Factors / biosynthesis; Forkhead Transcription Factors / genetics; Gene Expression; Gene Knock-In Techniques; Green Fluorescent Proteins / biosynthesis; Green Fluorescent Proteins / genetics; Integrases / genetics; Male; Mice, 129 Strain; Mice, Inbred C57BL; Mice, Transgenic; Recombination, Genetic; Tamoxifen / pharmacology; Transcriptional Activation / drug effects
TL;DR: The generation of an inducible knock-in Foxj1CreERT2::GFP knock‐in mouse is reported, which reliably induces Cre‐mediated recombination for genetic studies in epithelial cells with motile cilia throughout embryonic and postnatal development. (via Semantic Scholar)
Source: Web Of Science
Added: August 6, 2018

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