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NATURE GENETICS (2007)
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HUMAN GENETICS (2007)
Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells
Xiaoqing Liu et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome
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AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome
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AMERICAN JOURNAL OF HUMAN GENETICS (2006)
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NATURE CELL BIOLOGY (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)
Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination
EA Otto et al.
NATURE GENETICS (2003)
Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis
H Olbrich et al.
NATURE GENETICS (2003)
Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy
A Hameed et al.
JOURNAL OF MEDICAL GENETICS (2003)
RPGR isoforms in photoreceptor connecting cilia and the transitional zone of motile cilia
DH Hong et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2003)
The retinitis pigmentosa GTPase regulator (RPGR)-interacting protein: Subserving RPGR function and participating in disk morphogenesis
Y Zhao et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2003)
Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin
D Weil et al.
HUMAN MOLECULAR GENETICS (2003)
Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2
JL Badano et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
Molecular structure of cytoplasmic dynein 2 and its distribution in neuronal and ciliated cells
A Mikami et al.
JOURNAL OF CELL SCIENCE (2002)
A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution
E Otto et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin
G Mollet et al.
NATURE GENETICS (2002)
Molecular genetics of Leber congenital amaurosis
FPM Cremers et al.
HUMAN MOLECULAR GENETICS (2002)
Progressive photoreceptor degeneration, outer segment dysplasia, and rhodopsin mislocalization in mice with targeted disruption of the retinitis pigmentosa-1 (Rp1) gene
JG Gao et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2002)
The intraflagellar transport protein, IFT88, is essential for vertebrate photoreceptor assembly and maintenance
GJ Pazour et al.
JOURNAL OF CELL BIOLOGY (2002)
Massive light-driven translocation of transducin between the two major compartments of rod cells: A novel mechanism of light adaptation
M Sokolov et al.
NEURON (2002)
Functional analysis of mouse kinesin motor Kif3C
ZH Yang et al.
MOLECULAR AND CELLULAR BIOLOGY (2001)
Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F
KN Alagramam et al.
HUMAN MOLECULAR GENETICS (2001)
Identification of the gene that, when mutated, causes the human obesity syndrome BBS4
K Mykytyn et al.
NATURE GENETICS (2001)
Null RPGRIP1 alleles in patients with Leber congenital amaurosis
TP Dryja et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Retinitis pigmentosa GTPase regulator (RPGR)-interacting protein is stably associated with the photoreceptor ciliary axoneme and anchors RPGR to the connecting cilium
DH Hong et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)
DY Nishimura et al.
HUMAN MOLECULAR GENETICS (2001)
Identification of the gene for oral-facial-digital type I syndrome
MI Ferrante et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Genetic evidence for selective transport of opsin and arrestin by kinesin-II in mammalian photoreceptors
JR Marszalek et al.
CELL (2000)
Mutations in MKKS cause Bardet-Biedl syndrome
AM Slavotinek et al.
NATURE GENETICS (2000)
A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C
E Verpy et al.
NATURE GENETICS (2000)
The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors
R Roepman et al.
HUMAN MOLECULAR GENETICS (2000)
Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome
N Katsanis et al.
NATURE GENETICS (2000)
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