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注意:仅列出部分参考文献,下载原文获取全部文献信息。Early defects in photoreceptor outer segment morphogenesis in zebrafish ift57, ift88 and ift172 Intraflagellar Transport mutants
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Roger E. Davis et al.
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Gene expression analysis of photoreceptor cell loss in Bbs4-knockout mice reveals an early stress gene response and photoreceptor cell damage
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Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome
Corinne Stoetzel et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus
C Stoetzel et al.
NATURE GENETICS (2006)
Homozygosity mapping with SNP arrays identifies TRIM32 an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11)
AP Chiang et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2006)
Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function
HJ Yen et al.
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Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene
DY Nishimura et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome
MA Fath et al.
HUMAN MOLECULAR GENETICS (2005)
Ocular phenotypes of three genetic variants of Bardet-Biedl syndrome
E Héon et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
The melanosome as a model to study organelle motility in mammals
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Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome
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Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3)
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Loss of C-elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport
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Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin
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Intraflagellar transport genes are essential for differentiation and survival of vertebrate sensory neurons
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Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly
K Mykytyn et al.
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Comparative and basal genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene
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Zebrafish cone-rod (crx) homeobox gene promotes retinogenesis
YC Shen et al.
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Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome
SJ Ansley et al.
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N-cadherin mediates retinal lamination, maintenance of forebrain compartments and patterning of retinal neurites
I Masai et al.
DEVELOPMENT (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)
Pigment cells: A model for the study of organelle transport
AA Nascimento et al.
ANNUAL REVIEW OF CELL AND DEVELOPMENTAL BIOLOGY (2003)
Arf, Arl, Arp and Sar proteins: a family of GTP-binding proteins with a structural device for 'front-back' communication
S Pasqualato et al.
EMBO REPORTS (2002)
The cytoskeleton in fish melanophore melanosome positioning
HN Sköld et al.
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The intraflagellar transport protein, IFT88, is essential for vertebrate photoreceptor assembly and maintenance
GJ Pazour et al.
JOURNAL OF CELL BIOLOGY (2002)
Secretory lysosomes
EJ Blott et al.
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Rod contributions to the electroretinogram of the dark-adapted developing zebrafish
J Bilotta et al.
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The melanosome: Membrane dynamics in black and white
MS Marks et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2001)
Identification of the gene that, when mutated, causes the human obesity syndrome BBS4
K Mykytyn et al.
NATURE GENETICS (2001)
Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)
DY Nishimura et al.
HUMAN MOLECULAR GENETICS (2001)
Mutations in MKKS cause Bardet-Biedl syndrome
AM Slavotinek et al.
NATURE GENETICS (2000)
Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome
N Katsanis et al.
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