Related references
Note: Only part of the references are listed.Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome
Carmen C. Leitch et al.
NATURE GENETICS (2008)
Recent advances in the molecular pathology, cell biology and genetics of ciliopathies
M. Adams et al.
JOURNAL OF MEDICAL GENETICS (2008)
Cep164, a novel centriole appendage protein required for primary cilium formation
Susanne Graser et al.
JOURNAL OF CELL BIOLOGY (2007)
Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons
Dyke P. McEwen et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
Functional dissection of Rab GTPases involved in primary cilium formation
Shin-ichiro Yoshimura et al.
JOURNAL OF CELL BIOLOGY (2007)
Molecular characterization of centriole assembly in ciliated epithelial cells
Eszter K. Vladar et al.
JOURNAL OF CELL BIOLOGY (2007)
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome
Heleen H. Arts et al.
NATURE GENETICS (2007)
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome
Lekbir Baala et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis
Maxence V. Nachury et al.
CELL (2007)
Loss of centrosome integrity induces p38-p53-p21dependent G1-S arrest
Keith Mikule et al.
NATURE CELL BIOLOGY (2007)
The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation
Helen R. Dawe et al.
HUMAN MOLECULAR GENETICS (2007)
Mutations in the CEP290 (NPHP6) gene are a frequent cause of leber congenital amaurosis
Anneke I. den Hollander et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4
John A. Sayer et al.
NATURE GENETICS (2006)
In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse
Bo Chang et al.
HUMAN MOLECULAR GENETICS (2006)
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome
Enza Maria Valente et al.
NATURE GENETICS (2006)
Cilia and centrosomes: A unifying pathogenic concept for cystic kidney disease?
F Hildebrandt et al.
NATURE REVIEWS GENETICS (2005)
Functional coordination of intraflagellar transport motors
GS Ou et al.
NATURE (2005)
Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes
G Mollet et al.
HUMAN MOLECULAR GENETICS (2005)
Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome
H Karmous-Benailly et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression
JC Kim et al.
NATURE GENETICS (2004)
Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse
HM Kulaga et al.
NATURE GENETICS (2004)
Pericentrin forms a complex with intraflagellar transport proteins and polycystin-2 and is required for primary cilia assembly
A Jurczyk et al.
JOURNAL OF CELL BIOLOGY (2004)
Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis
H Olbrich et al.
NATURE GENETICS (2003)
Non-membranous granular organelle consisting of PCM-1: subcellular distribution and cell-cycledependent assembly/disassembly
A Kubo et al.
JOURNAL OF CELL SCIENCE (2003)
Assembly of centrosomal proteins and microtubule organization depends on PCM-1
A Dammermann et al.
JOURNAL OF CELL BIOLOGY (2002)
Classification and evolution of P-loop GTPases and related ATPases
DD Leipe et al.
JOURNAL OF MOLECULAR BIOLOGY (2002)
Rab proteins as membrane organizers
M Zerial et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2001)
Share Paper
