Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

(2010) Enza Maria Valente et al.   NATURE GENETICS

The primary cilium: a signalling centre during vertebrate development

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

Joubert Syndrome and related disorders

(2010) Francesco Brancati et al.   Orphanet Journal of Rare Diseases

Clinical and molecular features of Joubert syndrome and related disorders

(2009) Melissa A. Parisi   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

The Vertebrate Primary Cilium in Development, Homeostasis, and Disease

(2009) Jantje M. Gerdes et al.   CELL

The Mammalian Cos2 Homolog Kif7 Plays an Essential Role in Modulating Hh Signal Transduction during Development

(2009) Setsu Endoh-Yamagami et al.   CURRENT BIOLOGY

Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)

(2009) E A Otto et al.   JOURNAL OF MEDICAL GENETICS

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

(2009) D. Doherty et al.   JOURNAL OF MEDICAL GENETICS

INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse

(2009) Monique Jacoby et al.   NATURE GENETICS

Mouse Kif7/Costal2 is a cilia-associated protein that regulates Sonic hedgehog signaling

(2009) K. F. Liem et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Kinesin Protein Kif7 Is a Critical Regulator of Gli Transcription Factors in Mammalian Hedgehog Signaling

(2009) H. O.-L. Cheung et al.   Science Signaling

Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome

(2008) Vincent Cantagrel et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A BBSome Subunit Links Ciliogenesis, Microtubule Stability, and Acetylation

(2008) Alexander V. Loktev et al.   DEVELOPMENTAL CELL

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

(2008) Carmen C Leitch et al.   NATURE GENETICS