Expanding the phenotype of CRB2 mutations - A new ciliopathy syndrome?

Defects of CRB2 Cause Steroid-Resistant Nephrotic Syndrome

(2015) Lwaki Ebarasi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CRB2 Mutations Produce a Phenotype Resembling Congenital Nephrosis, Finnish Type, with Cerebral Ventriculomegaly and Raised Alpha-Fetoprotein

(2015) Anne Slavotinek et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cilia and Diseases

(2014) Jason M. Brown et al.   BIOSCIENCE

CRB2 acts as a modifying factor of CRB1-related retinal dystrophies in mice

(2014) Lucie P. Pellissier et al.   HUMAN MOLECULAR GENETICS

Dysfunction of Intraflagellar Transport Proteins beyond the Primary Cilium

(2014) P. V. Tran   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

A Homozygous Missense Mutation in the Ciliary Gene TTC21B Causes Familial FSGS

(2014) E. H. Cong et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins

(2014) Shai Carmi et al.   Nature Communications

Expanding Horizons: Ciliary Proteins Reach Beyond Cilia

(2013) Shiaulou Yuan et al.   Annual Review of Genetics

Microarray and Morphological Analysis of Early Postnatal CRB2 Mutant Retinas on a Pure C57BL/6J Genetic Background

(2013) Celso Henrique Alves et al.   PLoS One

Loss of CRB2 in the mouse retina mimics human retinitis pigmentosa due to mutations in the CRB1 gene

(2012) Celso Henrique Alves et al.   HUMAN MOLECULAR GENETICS

Deficiency in crumbs homolog 2 (Crb2) affects gastrulation and results in embryonic lethality in mice

(2011) Zhijie Xiao et al.   DEVELOPMENTAL DYNAMICS

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

(2011) Erica E Davis et al.   NATURE GENETICS

Planar cell polarity signaling, cilia and polarized ciliary beating

(2010) John B Wallingford   CURRENT OPINION IN CELL BIOLOGY

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

(2010) Fadel Tissir et al.   NATURE NEUROSCIENCE

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

Loss of Fat4 disrupts PCP signaling and oriented cell division and leads to cystic kidney disease

(2008) Sakura Saburi et al.   NATURE GENETICS