Bardet-Biedl Syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
BBS7 and RIN2 variants cause Bardet Biedl syndrome and RIN2 syndrome respectively.
|
31521835 |
2020 |
Bardet-Biedl Syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
This mutation has not yet been described in any reported literature, and this is the first report on BBS7 mutation in Chinese Miao families with BBS phenotypes.
|
30839500 |
2019 |
Bardet-Biedl Syndrome
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes.
|
30614526 |
2019 |
Bardet-Biedl Syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Thus, monkeys homozygous for the BBS7 c.160delG variant closely mirrored several key features of the human BBS syndrome.
|
31589838 |
2019 |
Bardet-Biedl Syndrome
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes.
|
26518167 |
2015 |
Bardet-Biedl Syndrome
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking.
|
23572516 |
2013 |
Bardet-Biedl Syndrome
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome.
|
22500027 |
2012 |
Bardet-Biedl Syndrome
|
0.200 |
Biomarker
|
disease |
BEFREE |
By characterizing BBSome assembly intermediates, we show that the BBS-chaperonin complex plays a role in BBS7 stability.
|
22500027 |
2012 |
Bardet-Biedl Syndrome
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.
|
21642631 |
2011 |
Bardet-Biedl Syndrome
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.
|
20498079 |
2010 |
Bardet-Biedl Syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population.
|
19402160 |
2009 |
Bardet-Biedl Syndrome
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population.
|
19402160 |
2009 |
Bardet-Biedl Syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family.
|
19093007 |
2008 |
Bardet-Biedl Syndrome
|
0.200 |
GeneticVariation
|
disease |
LHGDN |
Linkage analysis was conducted for all known BBS loci, and mutation screening of BBS7 gene and BBS12 gene was performed.
|
19093007 |
2008 |
Bardet-Biedl Syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Both MKS and BBS can be caused by mutations in the MKKS or BBS6 gene on chromosome 20p12 and BBS is also associated with mutations in other genes (BBS1, BBS2, BBS4, and BBS7).
|
15266619 |
2004 |
Bardet-Biedl Syndrome
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
In the present study, we demonstrate that BBS2L1 mutations cause BBS, thereby defining a novel locus for this syndrome, BBS7, whereas BBS2L2 has been shown independently to be BBS1.
|
12567324 |
2003 |
Bardet-Biedl Syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Bardet-Biedl syndrome (BBS) is a heterogeneous disease; to date seven loci have been mapped and five identified (BBS1, BBS2, BBS4, BBS6, and BBS7).
|
12872256 |
2003 |
Bardet-Biedl Syndrome
|
0.200 |
Biomarker
|
disease |
LHGDN |
In the present study, we demonstrate that BBS2L1 mutations cause BBS, thereby defining a novel locus for this syndrome, BBS7, whereas BBS2L2 has been shown independently to be BBS1.
|
12567324 |
2003 |
Bardet-Biedl Syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Bardet-Biedl syndrome is a genetically and clinically heterogeneous disorder caused by mutations in at least seven loci (BBS1-7), five of which are cloned (BBS1, BBS2, BBS4, BBS6, and BBS7).
|
12677556 |
2003 |
Bardet-Biedl Syndrome
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
In the present study, we demonstrate that BBS2L1 mutations cause BBS, thereby defining a novel locus for this syndrome, BBS7, whereas BBS2L2 has been shown independently to be BBS1.
|
12567324 |
2003 |