Related references
Note: Only part of the references are listed.A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity
Roger E. Davis et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
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AMERICAN JOURNAL OF HUMAN GENETICS (2007)
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D Huangfu et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)
Mkks-null mice have a phenotype resembling 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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Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin
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PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)
Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly
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L Romio et al.
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Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome
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NATURE (2003)
Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus
JL Badano et al.
HUMAN MOLECULAR GENETICS (2003)
Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome
PL Beales et al.
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Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2
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Arf, Arl, Arp and Sar proteins: a family of GTP-binding proteins with a structural device for 'front-back' communication
S Pasqualato et al.
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The cytoskeleton in fish melanophore melanosome positioning
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Conserved function for embryonic nodal cilia
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BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance
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AMERICAN JOURNAL OF HUMAN GENETICS (2002)
Secretory lysosomes
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Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder
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NATURE GENETICS (2001)
Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)
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Mutations in MKKS cause Bardet-Biedl syndrome
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Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome
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