Primary cilia defects causing mitral valve prolapse

Myocardial Fibrosis in Patients With Primary Mitral Regurgitation With and Without Prolapse

(2018) Danai Kitkungvan et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Mitral Valve Prolapse

(2018) Robert A. Levine et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

New insights into mitral valve dystrophy: a Filamin-A genotype–phenotype and outcome study

(2017) Thierry Le Tourneau et al.   EUROPEAN HEART JOURNAL

Genomics pipelines and data integration: challenges and opportunities in the research setting

(2017) Jeremy Davis-Turak et al.   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease

(2017) Hao Lu et al.   NATURE GENETICS

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

(2017) Sheng Chih Jin et al.   NATURE GENETICS

TGF-β receptor I/II trafficking and signaling at primary cilia are inhibited by ceramide to attenuate cell migration and tumor metastasis

(2017) Salih Gencer et al.   Science Signaling

TGF-β receptor I/II trafficking and signaling at primary cilia are inhibited by ceramide to attenuate cell migration and tumor metastasis

(2017) Salih Gencer et al.   Science Signaling

Loss of Axin2 results in impaired heart valve maturation and subsequent myxomatous valve disease

(2016) Alexia Hulin et al.   CARDIOVASCULAR RESEARCH

Sema6D acts downstream of bone morphogenetic protein signalling to promote atrioventricular cushion development in mice

(2016) Yin Peng et al.   CARDIOVASCULAR RESEARCH

Primary cilia maintain corneal epithelial homeostasis by regulation of the Notch signaling pathway

(2016) Laura Grisanti et al.   DEVELOPMENT

The mutation significance cutoff: gene-level thresholds for variant predictions

(2016) Yuval Itan et al.   NATURE METHODS

Electron tomography of rabbit cardiomyocyte three-dimensional ultrastructure

(2016) Eva A. Rog-Zielinska et al.   PROGRESS IN BIOPHYSICS & MOLECULAR BIOLOGY

Cardiac contraction activates endocardial Notch signaling to modulate chamber maturation in zebrafish

(2015) L. A. Samsa et al.   DEVELOPMENT

Sonic hedgehog controls enteric nervous system development by patterning the extracellular matrix

(2015) Nandor Nagy et al.   DEVELOPMENT

Comparative analysis of genes regulated by Dzip1/iguanaand hedgehog in zebrafish

(2015) Corey R. Arnold et al.   DEVELOPMENTAL DYNAMICS

Mutations in DCHS1 cause mitral valve prolapse

(2015) Ronen Durst et al.   NATURE

Global genetic analysis in mice unveils central role for cilia in congenital heart disease

(2015) You Li et al.   NATURE

Genetic association analyses highlight biological pathways underlying mitral valve prolapse

(2015) Christian Dina et al.   NATURE GENETICS

GSK3β-Dzip1-Rab8 Cascade Regulates Ciliogenesis after Mitosis

(2015) Boyan Zhang et al.   PLOS BIOLOGY

Targeted Overexpression of Tissue Inhibitor of Matrix Metalloproteinase-4 Modifies Post–Myocardial Infarction Remodeling in Mice

(2014) Juozas A. Zavadzkas et al.   CIRCULATION RESEARCH

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Interrogation of living myocardium in multiple static deformation states with diffusion tensor and diffusion spectrum imaging

(2014) Maelene Lohezic et al.   PROGRESS IN BIOPHYSICS & MOLECULAR BIOLOGY

Cyclosporin A in left ventricular remodeling after myocardial infarction

(2013) Andaleb Kholmukhamedov et al.   AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY

Sonic hedgehog signaling directly targets Hyaluronic Acid Synthase 2, an essential regulator of phalangeal joint patterning

(2013) Jiang Liu et al.   DEVELOPMENTAL BIOLOGY

Centrosomal Protein DZIP1 Regulates Hedgehog Signaling by Promoting Cytoplasmic Retention of Transcription Factor GLI3 and Affecting Ciliogenesis

(2013) Chengbing Wang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mild Expression of Mitral Valve Prolapse in the Framingham Offspring: Expanding the Phenotypic Spectrum

(2013) Francesca N. Delling et al.   JOURNAL OF THE AMERICAN SOCIETY OF ECHOCARDIOGRAPHY

TGF-β Signaling Is Associated with Endocytosis at the Pocket Region of the Primary Cilium

(2013) Christian Alexandro Clement et al.   Cell Reports

STAR: ultrafast universal RNA-seq aligner

(2012) Alexander Dobin et al.   BIOINFORMATICS

Developmental basis for filamin-A-associated myxomatous mitral valve disease

(2012) Kimberly Sauls et al.   CARDIOVASCULAR RESEARCH

Endocardial Cells Form the Coronary Arteries by Angiogenesis through Myocardial-Endocardial VEGF Signaling

(2012) Bingruo Wu et al.   CELL

The extracellular matrix and ciliary signaling

(2012) Tamina Seeger-Nukpezah et al.   CURRENT OPINION IN CELL BIOLOGY

The ciliopathies: a transitional model into systems biology of human genetic disease

(2012) Erica E Davis et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Epicardially derived fibroblasts preferentially contribute to the parietal leaflets of the atrioventricular valves in the murine heart

(2012) Andy Wessels et al.   DEVELOPMENTAL BIOLOGY

Atrioventricular valve development: New perspectives on an old theme

(2012) Annemarieke de Vlaming et al.   DIFFERENTIATION

Target-of-rapamycin complex 1 (Torc1) signaling modulates cilia size and function through protein synthesis regulation

(2012) S. Yuan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Lack of Primary Cilia Primes Shear-Induced Endothelial-to-Mesenchymal Transition

(2011) Anastasia D. Egorova et al.   CIRCULATION RESEARCH

Inversin, Wnt signaling and primary cilia

(2011) Soeren Lienkamp et al.   DIFFERENTIATION

A novel murine allele of Intraflagellar Transport Protein 172 causes a syndrome including VACTERL-like features with hydrocephalus

(2011) J. M. Friedland-Little et al.   HUMAN MOLECULAR GENETICS

Ciliogenesis: building the cell's antenna

(2011) Hiroaki Ishikawa et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Ciliopathies

(2011) Friedhelm Hildebrandt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Gli2a protein localization reveals a role for Iguana/DZIP1 in primary ciliogenesis and a dependence of Hedgehog signal transduction on primary cilia in the zebrafish

(2010) Hyejeong Kim et al.   BMC BIOLOGY

Notch signalling regulates left-right asymmetry through ciliary length control

(2010) S. S. Lopes et al.   DEVELOPMENT

i-GSEA4GWAS: a web server for identification of pathways/gene sets associated with traits by applying an improved gene set enrichment analysis to genome-wide association study

(2010) K. Zhang et al.   NUCLEIC ACIDS RESEARCH

Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome

(2010) N. A. Zaghloul et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Calpain inhibition preserves myocardial structure and function following myocardial infarction

(2009) Santhosh K. Mani et al.   AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY

The iguana/DZIP1 protein is a novel component of the ciliogenic pathway essential for axonemal biogenesis

(2009) Shang Yew Tay et al.   DEVELOPMENTAL DYNAMICS

Primary cilia sensitize endothelial cells for fluid shear stress

(2008) Beerend P. Hierck et al.   DEVELOPMENTAL DYNAMICS

The development of the heart and microcirculation: role of shear stress

(2008) Robert E. Poelmann et al.   MEDICAL & BIOLOGICAL ENGINEERING & COMPUTING