Riding the wave of ependymal cilia: Genetic susceptibility to hydrocephalus in primary ciliary dyskinesia

Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry

(2012) Heike Olbrich et al.   AMERICAN JOURNAL OF HUMAN GENETICS

New Adenylate Kinase 7 (AK7) Mutation in Primary Ciliary Dyskinesia

(2012) Manuel Mata et al.   American Journal of Rhinology & Allergy

Ciliary aplasia associated with hydrocephalus: an extremely rare occurrence

(2012) Marco Berlucchi et al.   EUROPEAN ARCHIVES OF OTO-RHINO-LARYNGOLOGY

Primary Ciliary Dyskinesia and Hydrocephalus With Aqueductal Stenosis

(2012) José Pedro Vieira et al.   JOURNAL OF CHILD NEUROLOGY

Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus

(2012) Anais Drielsma et al.   JOURNAL OF MEDICAL GENETICS

Mutation inMPDZcauses severe congenital hydrocephalus

(2012) Mohammed S Al-Dosari et al.   JOURNAL OF MEDICAL GENETICS

Congenital Hydrocephalus and Abnormal Subcommissural Organ Development in Sox3 Transgenic Mice

(2012) Kristie Lee et al.   PLoS One

Pathophysiology of congenital and neonatal hydrocephalus

(2012) James P. McAllister   Seminars in Fetal & Neonatal Medicine

MNS1 Is Essential for Spermiogenesis and Motile Ciliary Functions in Mice

(2012) Jian Zhou et al.   PLoS Genetics

Loss of SPEF2 Function in Mice Results in Spermatogenesis Defects and Primary Ciliary Dyskinesia1

(2011) Anu Sironen et al.   BIOLOGY OF REPRODUCTION

Hydrocephalus in aqueductal stenosis

(2011) Giuseppe Cinalli et al.   CHILDS NERVOUS SYSTEM

A consensus on the classification of hydrocephalus: its utility in the assessment of abnormalities of cerebrospinal fluid dynamics

(2011) Harold L. Rekate   CHILDS NERVOUS SYSTEM

Hydrocephalus in Dandy–Walker malformation

(2011) Pietro Spennato et al.   CHILDS NERVOUS SYSTEM

Hydrocephalus with brain tumors in children

(2011) Tai-Tong Wong et al.   CHILDS NERVOUS SYSTEM

Six3 is required for ependymal cell maturation

(2011) A. Lavado et al.   DEVELOPMENT

Congenital hydrocephalus in clinical practice: A genetic diagnostic approach

(2011) J.M.A. Verhagen et al.   European Journal of Medical Genetics

Static respiratory cilia associated with mutations in Dnahc11/DNAH11: A mouse model of PCD

(2011) Jane S. Lucas et al.   HUMAN MUTATION

Complications of endoscopic third ventriculostomy

(2011) Triantafyllos Bouras et al.   Journal of Neurosurgery-Pediatrics

Mouse genomic variation and its effect on phenotypes and gene regulation

(2011) Thomas M. Keane et al.   NATURE

Dysregulation of Kruppel-like factor 4 during brain development leads to hydrocephalus in mice

(2011) S. Qin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Congenital Hydrocephalus in Genetically Engineered Mice

(2011) P. Vogel et al.   VETERINARY PATHOLOGY

Role of Adenylate Kinase Type 7 Expression on Cilia Motility: Possible Link in Primary Ciliary Dyskinesia

(2010) Javier Milara et al.   American Journal of Rhinology & Allergy

Transcriptional control of genes involved in ciliogenesis: a first step in making cilia

(2010) Joëlle Thomas et al.   BIOLOGY OF THE CELL

Neuropathology and structural changes in hydrocephalus

(2010) Marc R. Del Bigio   Developmental Disabilities Research Reviews

Anomalous development of brain structure and function in spina bifida myelomeningocele

(2010) Jenifer Juranek et al.   Developmental Disabilities Research Reviews

Mechanisms of mammalian ciliary motility: Insights from primary ciliary dyskinesia genetics

(2010) Lance Lee   GENE

Deletion of the Parkin co-regulated gene causes defects in ependymal ciliary motility and hydrocephalus in the quakingviable mutant mouse

(2010) G. R. Wilson et al.   HUMAN MOLECULAR GENETICS

Pcdp1 is a central apparatus protein that binds Ca2+-calmodulin and regulates ciliary motility

(2010) Christen G. DiPetrillo et al.   JOURNAL OF CELL BIOLOGY

Lack of cadherins Celsr2 and Celsr3 impairs ependymal ciliogenesis, leading to fatal hydrocephalus

(2010) Fadel Tissir et al.   NATURE NEUROSCIENCE

The primary cilium: a signalling centre during vertebrate development

(2010) Sarah C. Goetz et al.   NATURE REVIEWS GENETICS

Altered Lung Morphogenesis, Epithelial Cell Differentiation and Mechanics in Mice Deficient in the Wnt/β-Catenin Antagonist Chibby

(2010) Damon Love et al.   PLoS One

Tubulin polyglutamylation is essential for airway ciliary function through the regulation of beating asymmetry

(2010) K. Ikegami et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Tubulin Tyrosine Ligase–Like 1 Deficiency Results in Chronic Rhinosinusitis and Abnormal Development of Spermatid Flagella in Mice

(2010) P. Vogel et al.   VETERINARY PATHOLOGY

Situs Inversus in Dpcd/Poll–/–, Nme7–/–, and Pkd1l1–/– Mice

(2010) P. Vogel et al.   VETERINARY PATHOLOGY

Ependymal cells: biology and pathology

(2009) Marc R. Del Bigio   ACTA NEUROPATHOLOGICA

Fetal Brain Tumors: A Review of 154 Cases

(2009) Hart Isaacs   AMERICAN JOURNAL OF PERINATOLOGY

Expression of SPEF2 During Mouse Spermatogenesis and Identification of IFT20 as an Interacting Protein1

(2009) Anu Sironen et al.   BIOLOGY OF REPRODUCTION

The Primary Cilium as a Complex Signaling Center

(2009) Nicolas F. Berbari et al.   CURRENT BIOLOGY

Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome

(2009) Margaret W Leigh et al.   GENETICS IN MEDICINE

Inactivation of Chibby affects function of motile airway cilia

(2009) Vera A. Voronina et al.   JOURNAL OF CELL BIOLOGY

Disruption of the Neurogenic Niche in the Subventricular Zone of Postnatal Hydrocephalic hyh Mice

(2009) Antonio Jesús Jiménez et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

The mammalian Nm23/NDPK family: from metastasis control to cilia movement

(2009) Mathieu Boissan et al.   MOLECULAR AND CELLULAR BIOCHEMISTRY

Fused has evolved divergent roles in vertebrate Hedgehog signalling and motile ciliogenesis

(2009) Christopher W. Wilson et al.   NATURE

A modifier locus on chromosome 5 contributes to L1 cell adhesion molecule X-linked hydrocephalus in mice

(2009) Alexis Tapanes-Castillo et al.   NEUROGENETICS

Genetic dissection of the mouse brain using high-field magnetic resonance microscopy

(2009) A. Badea et al.   NEUROIMAGE

SCO-ping Out the Mechanisms Underlying the Etiology of Hydrocephalus

(2009) Michael S. Huh et al.   PHYSIOLOGY

Mutation of Murine Adenylate Kinase 7 Underlies a Primary Ciliary Dyskinesia Phenotype

(2008) Angeles Fernandez-Gonzalez et al.   AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY

Disruption of neural progenitors along the ventricular and subventricular zones in periventricular heterotopia

(2008) Russell J. Ferland et al.   HUMAN MOLECULAR GENETICS

Mutations inHydinimpair ciliary motility in mice

(2008) Karl-Ferdinand Lechtreck et al.   JOURNAL OF CELL BIOLOGY