Loss of ADAMTS19 causes progressive non-syndromic heart valve disease

[1]  R. Levine,et al.  Human pre-valvular endocardial cells derived from pluripotent stem cells recapitulate cardiac pathophysiological valvulogenesis , 2019, Nature Communications.

[2]  Lai Guan Ng,et al.  Dimensionality reduction for visualizing single-cell data using UMAP , 2018, Nature Biotechnology.

[3]  Yves Moreau,et al.  GRNBoost2 and Arboreto: efficient and scalable inference of gene regulatory networks , 2018, Bioinform..

[4]  Fan Zhang,et al.  Fast, sensitive, and accurate integration of single cell data with Harmony , 2018, bioRxiv.

[5]  Russell A. Gould,et al.  ROBO4 Variants Predispose Individuals to Bicuspid Aortic Valve and Thoracic Aortic Aneurysm , 2018, Nature Genetics.

[6]  Guo-Cheng Yuan,et al.  Revealing the Critical Regulators of Cell Identity in the Mouse Cell Atlas , 2018, bioRxiv.

[7]  Leland McInnes,et al.  UMAP: Uniform Manifold Approximation and Projection , 2018, J. Open Source Softw..

[8]  E. Morrisey,et al.  Hemodynamic Forces Sculpt Developing Heart Valves through a KLF2-WNT9B Paracrine Signaling Axis. , 2017, Developmental cell.

[9]  J. Aerts,et al.  SCENIC: Single-cell regulatory network inference and clustering , 2017, Nature Methods.

[10]  J. C. Love,et al.  Seq-Well: portable, low-cost RNA sequencing of single cells at high throughput. , 2017, Nature methods.

[11]  J. C. Love,et al.  Seq-Well: A Portable, Low-Cost Platform for High-Throughput Single-Cell RNA-Seq of Low-Input Samples , 2017 .

[12]  Milena B. Furtado,et al.  Congenital valvular defects associated with deleterious mutations in the PLD1 gene , 2016, Journal of Medical Genetics.

[13]  James Y. Zou Analysis of protein-coding genetic variation in 60,706 humans , 2015, Nature.

[14]  Francesca N. Delling,et al.  Mutations in DCHS1 Cause Mitral Valve Prolapse , 2015, Nature.

[15]  K. Jones,et al.  SMADs and YAP compete to control elongation of β-catenin:LEF-1-recruited RNAPII during hESC differentiation. , 2015, Molecular cell.

[16]  Evan Z. Macosko,et al.  Highly Parallel Genome-wide Expression Profiling of Individual Cells Using Nanoliter Droplets , 2015, Cell.

[17]  A. Regev,et al.  Spatial reconstruction of single-cell gene expression , 2015, Nature Biotechnology.

[18]  S. LaHaye,et al.  Genetics of Valvular Heart Disease , 2014, Current Cardiology Reports.

[19]  T. Jacks,et al.  Whole-mount X-Gal staining of mouse tissues. , 2014, Cold Spring Harbor protocols.

[20]  Mauricio O. Carneiro,et al.  From FastQ Data to High‐Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipeline , 2013, Current protocols in bioinformatics.

[21]  Fowzan S Alkuraya,et al.  The Syndrome of Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus (MMCAT) Is Caused by Mutations in ADAMTS18 , 2013, Human mutation.

[22]  R. Ramirez-Solis,et al.  Molecular Characterization of Mutant Mouse Strains Generated from the EUCOMM/KOMP-CSD ES Cell Resource , 2013, Mammalian Genome.

[23]  Bin Zhou,et al.  Tbx20 acts upstream of Wnt signaling to regulate endocardial cushion formation and valve remodeling during mouse cardiogenesis , 2013, Development.

[24]  Damian Smedley,et al.  Genome-wide Generation and Systematic Phenotyping of Knockout Mice Reveals New Roles for Many Genes , 2013, Cell.

[25]  Aaron R. Quinlan,et al.  GEMINI: Integrative Exploration of Genetic Variation and Genome Annotations , 2013, PLoS Comput. Biol..

[26]  Thomas R. Gingeras,et al.  STAR: ultrafast universal RNA-seq aligner , 2013, Bioinform..

[27]  Lars Otten,et al.  A system for exact and approximate genetic linkage analysis of SNP data in large pedigrees , 2013, Bioinform..

[28]  Steve D. M. Brown,et al.  The mammalian gene function resource: the international knockout mouse consortium , 2012, Mammalian Genome.

[29]  S. Scherer,et al.  Rare Copy Number Variants Contribute to Congenital Left-Sided Heart Disease , 2012, PLoS genetics.

[30]  C. Semsarian,et al.  Rare non-synonymous variations in the transcriptional activation domains of GATA5 in bicuspid aortic valve disease. , 2012, Journal of molecular and cellular cardiology.

[31]  B. Keavney,et al.  Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation , 2012, Human mutation.

[32]  G. Andelfinger,et al.  Loss of Gata5 in mice leads to bicuspid aortic valve. , 2011, The Journal of clinical investigation.

[33]  J. Harrow,et al.  A conditional knockout resource for the genome-wide study of mouse gene function , 2011, Nature.

[34]  Gonçalo R. Abecasis,et al.  The variant call format and VCFtools , 2011, Bioinform..

[35]  A. Reymond,et al.  A High-Resolution Anatomical Atlas of the Transcriptome in the Mouse Embryo , 2011, PLoS biology.

[36]  M. DePristo,et al.  The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. , 2010, Genome research.

[37]  S. Siu,et al.  Bicuspid aortic valve disease. , 2010, Journal of the American College of Cardiology.

[38]  Santanu Chakraborty,et al.  Wnt signaling in heart valve development and osteogenic gene induction. , 2010, Developmental biology.

[39]  F. Alkuraya,et al.  Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. , 2009, American journal of human genetics.

[40]  Richard Durbin,et al.  Sequence analysis Fast and accurate short read alignment with Burrows – Wheeler transform , 2009 .

[41]  K. Kadler,et al.  Temporal and spatial expression of collagens during murine atrioventricular heart valve development and maintenance , 2008, Developmental dynamics : an official publication of the American Association of Anatomists.

[42]  R. Hinton,et al.  Mouse heart valve structure and function: echocardiographic and morphometric analyses from the fetus through the aged adult. , 2008, American journal of physiology. Heart and circulatory physiology.

[43]  H. Cavé,et al.  The Spectrum of Cardiac Anomalies in Noonan Syndrome as a Result of Mutations in the PTPN11 Gene , 2007, Pediatrics.

[44]  Lan Cheng,et al.  Klf2 is an essential regulator of vascular hemodynamic forces in vivo. , 2006, Developmental cell.

[45]  J. Gardin,et al.  Burden of valvular heart diseases: a population-based study , 2006, The Lancet.

[46]  M. Rondaij,et al.  KLF2 provokes a gene expression pattern that establishes functional quiescent differentiation of the endothelium. , 2006, Blood.

[47]  K. Powell,et al.  Regulation of procollagen amino-propeptide processing during mouse embryogenesis by specialization of homologous ADAMTS proteases: insights on collagen biosynthesis and dermatosparaxis , 2006, Development.

[48]  Shu Chien,et al.  Shear stress regulation of Krüppel-like factor 2 expression is flow pattern-specific. , 2006, Biochemical and biophysical research communications.

[49]  Wolfram Kress,et al.  A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2 , 2005, Nature Genetics.

[50]  D. Srivastava,et al.  Mutations in NOTCH1 cause aortic valve disease , 2005, Nature.

[51]  Katherine E Yutzey,et al.  Development of heart valve leaflets and supporting apparatus in chicken and mouse embryos , 2004, Developmental dynamics : an official publication of the American Association of Anatomists.

[52]  Alex E. Lash,et al.  Gene Expression Omnibus: NCBI gene expression and hybridization array data repository , 2002, Nucleic Acids Res..

[53]  T. Foroud,et al.  Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura , 2001, Nature.

[54]  E. Stanley,et al.  Cardiac Septal and Valvular Dysmorphogenesis in Mice Heterozygous for Mutations in the Homeobox Gene Nkx2-5 , 2000, Circulation research.

[55]  W. Reardon,et al.  Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene. , 1999, American journal of human genetics.

[56]  R. Grosschedl,et al.  Regulation of LEF-1/TCF transcription factors by Wnt and other signals. , 1999, Current opinion in cell biology.

[57]  J. Fewell,et al.  A treadmill exercise regimen for identifying cardiovascular phenotypes in transgenic mice. , 1997, The American journal of physiology.

[58]  Ada Hamosh,et al.  Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene , 1991, Nature.