Genetic link between renal birth defects and congenital heart disease

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

(2015) You Li et al.   NATURE

Genetic, environmental and epigenetic factors involved in CAKUT

(2015) Nayia Nicolaou et al.   Nature Reviews Nephrology

Congenital anomalies of the kidney and urinary tract genetics in mice and men

(2015) Georgina Caruana et al.   NEPHROLOGY

De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype

(2014) M. Roifman et al.   CLINICAL GENETICS

Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans

(2014) Asaf Vivante et al.   PEDIATRIC NEPHROLOGY

Acentriolar mitosis activates a p53-dependent apoptosis pathway in the mouse embryo

(2014) H. Bazzi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Ciliopathy-associated gene Cc2d2a promotes assembly of subdistal appendages on the mother centriole during cilia biogenesis

(2014) Shobi Veleri et al.   Nature Communications

Ciliary GenesTBC1D32/C6orf170andSCLT1are Mutated in Patients with OFD Type IX

(2013) Nouran Adly et al.   HUMAN MUTATION

ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3

(2013) Sylvia Hoff et al.   NATURE GENETICS

Meckel-Gruber syndrome and the role of primary cilia in kidney, skeleton, and central nervous system development

(2013) Amy R Barker et al.   Organogenesis

Coordinated Ciliary Beating Requires Odf2-Mediated Polarization of Basal Bodies via Basal Feet

(2012) Koshi Kunimoto et al.   CELL

IFT25 Links the Signal-Dependent Movement of Hedgehog Components to Intraflagellar Transport

(2012) Brian T. Keady et al.   DEVELOPMENTAL CELL

The base of the cilium: roles for transition fibres and the transition zone in ciliary formation, maintenance and compartmentalization

(2012) Jeremy F Reiter et al.   EMBO REPORTS

Disruption of IFT Complex A Causes Cystic Kidneys without Mitotic Spindle Misorientation

(2012) J. A. Jonassen et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Disruption of Mouse Cenpj, a Regulator of Centriole Biogenesis, Phenocopies Seckel Syndrome

(2012) Rebecca E. McIntyre et al.   PLoS Genetics

Disruption of a Ciliary B9 Protein Complex Causes Meckel Syndrome

(2011) William E. Dowdle et al.   AMERICAN JOURNAL OF HUMAN GENETICS

SLIT/ROBO1 Signaling Suppresses Mammary Branching Morphogenesis by Limiting Basal Cell Number

(2011) Hector Macias et al.   DEVELOPMENTAL CELL

Two mutations in human BICC1 resulting in Wnt pathway hyperactivity associated with cystic renal dysplasia

(2011) Marine R.-C. Kraus et al.   HUMAN MUTATION

Congenital Heart Defects and Major Structural Noncardiac Anomalies, Atlanta, Georgia, 1968 to 2005

(2011) Assia Miller et al.   JOURNAL OF PEDIATRICS

A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition

(2011) Francesc R Garcia-Gonzalo et al.   NATURE GENETICS

VACTERL/VATER Association

(2011) Benjamin D Solomon   Orphanet Journal of Rare Diseases

Disruption of Mks1 localization to the mother centriole causes cilia defects and developmental malformations in Meckel-Gruber syndrome

(2010) C. Cui et al.   Disease Models & Mechanisms

Kidney-specific inactivation of Ofd1 leads to renal cystic disease associated with upregulation of the mTOR pathway

(2010) Alessandro Zullo et al.   HUMAN MOLECULAR GENETICS

Genetic kidney diseases

(2010) Friedhelm Hildebrandt   LANCET

Wnt9b signaling regulates planar cell polarity and kidney tubule morphogenesis

(2009) Courtney M Karner et al.   NATURE GENETICS

C2cd3 is required for cilia formation and Hedgehog signaling in mouse

(2008) A. N. Hoover et al.   DEVELOPMENT

CP110 Suppresses Primary Cilia Formation through Its Interaction with CEP290, a Protein Deficient in Human Ciliary Disease

(2008) William Y. Tsang et al.   DEVELOPMENTAL CELL

Deletion of IFT20 in the mouse kidney causes misorientation of the mitotic spindle and cystic kidney disease

(2008) Julie A. Jonassen et al.   JOURNAL OF CELL BIOLOGY