Kidney-differentiated cells derived from Lowe Syndrome patient’s iPSCs show ciliogenesis defects and Six2 retention at the Golgi complex

Loss of OCRL increases ciliary PI(4,5)P2in Lowe oculocerebrorenal syndrome

(2017) Philipp P. Prosseda et al.   JOURNAL OF CELL SCIENCE

Transcriptional activation of RagD GTPase controls mTORC1 and promotes cancer growth

(2017) Chiara Di Malta et al.   SCIENCE

NF-κB activation is cell type-specific in the heart

(2017) Efraín E. Rivera-Serrano et al.   VIROLOGY

The primary cilium as a cellular receiver: organizing ciliary GPCR signaling

(2016) Keren I Hilgendorf et al.   CURRENT OPINION IN CELL BIOLOGY

Modeling renal progenitors – defining the niche

(2016) Shunsuke Tanigawa et al.   DIFFERENTIATION

Motile and non-motile cilia in human pathology: from function to phenotypes

(2016) Hannah M Mitchison et al.   JOURNAL OF PATHOLOGY

Erratum: Kidney organoids from human iPS cells contain multiple lineages and model human nephrogenesis

(2016) Minoru Takasato et al.   NATURE

The oculocerebrorenal syndrome of Lowe: an update

(2016) Arend Bökenkamp et al.   PEDIATRIC NEPHROLOGY

Transcription factor Six2 mediates the protection of GDNF on 6-OHDA lesioned dopaminergic neurons by regulating Smurf1 expression

(2016) J Gao et al.   Cell Death & Disease

Phosphatidylinositol phosphate kinase PIPKIγ and phosphatase INPP5E coordinate initiation of ciliogenesis

(2016) Qingwen Xu et al.   Nature Communications

Stem Cell Therapies in Clinical Trials: Progress and Challenges

(2015) Alan Trounson et al.   Cell Stem Cell

Nephronophthisis and related syndromes

(2015) Matthias T.F. Wolf   CURRENT OPINION IN PEDIATRICS

NFI-C2 temporal-spatial expression and cellular localization pattern during tooth formation

(2015) Ejvis Lamani et al.   DEVELOPMENT GROWTH & DIFFERENTIATION

Therapeutic use of human renal progenitor cells for kidney regeneration

(2015) Benedetta Bussolati et al.   Nature Reviews Nephrology

The Lowe Syndrome Protein OCRL1 Is Required for Endocytosis in the Zebrafish Pronephric Tubule

(2015) Francesca Oltrabella et al.   PLoS Genetics

Down-Regulation of Rac GTPase-Activating Protein OCRL1 Causes Aberrant Activation of Rac1 in Osteoarthritis Development

(2015) Shouan Zhu et al.   Arthritis & Rheumatology

Adult stem-like cells in kidney

(2015) Keiichi Hishikawa   World Journal of Stem Cells

Electrical Signaling in Motile and Primary Cilia

(2014) Steven J. Kleene et al.   BIOSCIENCE

Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome

(2014) Florian Recker et al.   PEDIATRIC NEPHROLOGY

Efficient and Rapid Induction of Human iPSCs/ESCs into Nephrogenic Intermediate Mesoderm Using Small Molecule-Based Differentiation Methods

(2014) Toshikazu Araoka et al.   PLoS One

Ciliopathies: The Trafficking Connection

(2014) Kayalvizhi Madhivanan et al.   TRAFFIC

A role of OCRL in clathrin-coated pit dynamics and uncoating revealed by studies of Lowe syndrome cells

(2014) Ramiro Nández et al.   eLife

Rapid and Efficient Differentiation of Human Pluripotent Stem Cells into Intermediate Mesoderm That Forms Tubules Expressing Kidney Proximal Tubular Markers

(2013) A. Q. Lam et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Directed differentiation of human pluripotent cells to ureteric bud kidney progenitor-like cells

(2013) Yun Xia et al.   NATURE CELL BIOLOGY

Critical regulation of miR-200/ZEB2 pathway in Oct4/Sox2-induced mesenchymal-to-epithelial transition and induced pluripotent stem cell generation

(2013) G. Wang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Dual transcriptional activities of SIX proteins define their roles in normal and ectopic eye development

(2012) A. M. Anderson et al.   DEVELOPMENT

The Lowe syndrome protein OCRL1 is involved in primary cilia assembly

(2012) Brian G. Coon et al.   HUMAN MOLECULAR GENETICS

The 5-phosphatase OCRL mediates retrograde transport of the mannose 6-phosphate receptor by regulating a Rac1-cofilin signalling module

(2012) Vanessa A. van Rahden et al.   HUMAN MOLECULAR GENETICS

OCRL localizes to the primary cilium: a new role for cilia in Lowe syndrome

(2012) Na Luo et al.   HUMAN MOLECULAR GENETICS

The Directed Differentiation of Human iPS Cells into Kidney Podocytes

(2012) Bi Song et al.   PLoS One

OCRL1 Modulates Cilia Length in Renal Epithelial Cells

(2012) Youssef Rbaibi et al.   TRAFFIC

Mammalian Kidney Development: Principles, Progress, and Projections

(2012) M. H. Little et al.   Cold Spring Harbor Perspectives in Biology

OCRL controls trafficking through early endosomes via PtdIns4,5P2-dependent regulation of endosomal actin

(2011) Mariella Vicinanza et al.   EMBO JOURNAL

Phenotypic variability of Bardet-Biedl syndrome: focusing on the kidney

(2011) Audrey Putoux et al.   PEDIATRIC NEPHROLOGY

Ciliopathies: an expanding disease spectrum

(2011) Aoife M. Waters et al.   PEDIATRIC NEPHROLOGY

short report: Bleeding disorders in Lowe syndrome patients: evidence for a link between OCRL mutations and primary haemostasis disorders

(2010) Dominique Lasne et al.   BRITISH JOURNAL OF HAEMATOLOGY

Identification and Classification of Chromosomal Aberrations in Human Induced Pluripotent Stem Cells

(2010) Yoav Mayshar et al.   Cell Stem Cell

A Mesenchymal-to-Epithelial Transition Initiates and Is Required for the Nuclear Reprogramming of Mouse Fibroblasts

(2010) Ronghui Li et al.   Cell Stem Cell

Inactivation of Six2 in mouse identifies a novel genetic mechanism controlling development and growth of the cranial base

(2010) Guiyuan He et al.   DEVELOPMENTAL BIOLOGY

The primary cilium: a signalling centre during vertebrate development

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

Lithium Pharmacodynamics and Pharmacogenetics: Focus on Inositol Mono Phosphatase (IMPase), Inositol Poliphosphatase (IPPase) and Glycogen Sinthase Kinase 3 Beta (GSK-3 Beta)

(2009) Alessandro Serretti et al.   CURRENT MEDICINAL CHEMISTRY

DNA-Binding and Regulation Mechanisms of the SIX Family of Retinal Determination Proteins†

(2008) Shengyong Hu et al.   BIOCHEMISTRY

Six2 Defines and Regulates a Multipotent Self-Renewing Nephron Progenitor Population throughout Mammalian Kidney Development

(2008) Akio Kobayashi et al.   Cell Stem Cell

Fanconi or not Fanconi? Lowe Syndrome Revisited

(2008) R. Kleta   Clinical Journal of the American Society of Nephrology

Renal Phenotype in Lowe Syndrome: A Selective Proximal Tubular Dysfunction

(2008) D. Bockenhauer et al.   Clinical Journal of the American Society of Nephrology

Misexpression ofSix2is associated with heritable frontonasal dysplasia and renal hypoplasia in 3H1Brmice

(2008) Ben Fogelgren et al.   DEVELOPMENTAL DYNAMICS