Related references
Note: Only part of the references are listed.Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways
Liyun Sang et al.
CELL (2011)
Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals
Sabine Janssen et al.
HUMAN GENETICS (2011)
MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis
Corey L. Williams et al.
JOURNAL OF CELL BIOLOGY (2011)
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy
Edgar A. Otto et al.
JOURNAL OF MEDICAL GENETICS (2011)
C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome
Heleen H. Arts et al.
JOURNAL OF MEDICAL GENETICS (2011)
Functional characterization of putative cilia genes by high-content analysis
Cary K. Lai et al.
MOLECULAR BIOLOGY OF THE CELL (2011)
CEP152 is a genome maintenance protein disrupted in Seckel syndrome
Ersan Kalay et al.
NATURE GENETICS (2011)
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes
Audrey Putoux et al.
NATURE GENETICS (2011)
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum
Erica E. Davis et al.
NATURE GENETICS (2011)
A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition
Francesc R. Garcia-Gonzalo et al.
NATURE GENETICS (2011)
Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome
Christian Gilissen et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Cranioectodermal Dysplasia, Sensenbrenner Syndrome, Is a Ciliopathy Caused by Mutations in the IFT122 Gene
Joanna Walczak-Sztulpa et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
The Conserved Bardet-Biedl Syndrome Proteins Assemble a Coat that Traffics Membrane Proteins to Cilia
Hua Jin et al.
CELL (2010)
Functional genomic screen for modulators of ciliogenesis and cilium length
Joon Kim et al.
NATURE (2010)
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis
Carrie M. Louie et al.
NATURE GENETICS (2010)
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy
Edgar A. Otto et al.
NATURE GENETICS (2010)
A Septin Diffusion Barrier at the Base of the Primary Cilium Maintains Ciliary Membrane Protein Distribution
Qicong Hu et al.
SCIENCE (2010)
Deletions and Point Mutations of LRRC50 Cause Primary Ciliary Dyskinesia Due to Dynein Arm Defects
Niki Tomas Loges et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Mutations in Radial Spoke Head Protein Genes RSPH9 and RSPH4A Cause Primary Ciliary Dyskinesia with Central-Microtubular-Pair Abnormalities
Victoria H. Castleman et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Pericentrin, a centrosomal protein related to microcephalic primordial dwarfism, is required for olfactory cilia assembly in mice
Ko Miyoshi et al.
FASEB JOURNAL (2009)
BBS7 and TTC8 (BBS8) Mutations Play a Minor Role in the Mutational Load of Bardet-Biedl Syndrome in a Multiethnic Population
Jenea Bin et al.
HUMAN MUTATION (2009)
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies
Hemant Khanna et al.
NATURE GENETICS (2009)
DNAI2 Mutations Cause Primary Ciliary Dyskinesia with Defects in the Outer Dynein Arm
Niki Tomas Loges et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
The Caenorhabditis elegans nephrocystins act as global modifiers of cilium structure
Andrew R. Jauregui et al.
JOURNAL OF CELL BIOLOGY (2008)
Functional redundancy of the B9 proteins and nephrocystins in Caenorhabditis elegans ciliogenesis
Corey L. Williams et al.
MOLECULAR BIOLOGY OF THE CELL (2008)
Mutations in the pericentrin (PCNT) gene cause primordial dwarfism
Anita Rauch et al.
SCIENCE (2008)
Kinome siRNA Screen Identifies Regulators of Ciliogenesis and Hedgehog Signal Transduction
Marie Evangelista et al.
SCIENCE SIGNALING (2008)
A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis
Maxence V. Nachury et al.
CELL (2007)
IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy
Philip L. Beales et al.
NATURE GENETICS (2007)
The graded response to sonic hedgehog depends on cilia architecture
Tamara Caspary et al.
DEVELOPMENTAL CELL (2007)
Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patients
J Horváth et al.
AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY (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)
Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin
DY Nishimura et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)
Comparative and basal genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene
JB Li et al.
CELL (2004)
Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome
SJ Ansley et al.
NATURE (2003)
Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder
N Katsanis et al.
SCIENCE (2001)