|
Bardet-Biedl Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
Here, we show that the BBBsome, a macromolecule composed of eight Bardet-Biedl syndrome (BBS) proteins including BBS1, is a critical determinant of cell migration and wound healing.
|
31216194 |
2019 |
|
Bardet-Biedl Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
To date, mutations in 21 different genes (BBS1-21) have been identified as causing isolated or complex BBS phenotypes.
|
30839500 |
2019 |
|
Bardet-Biedl Syndrome
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
|
Bardet-Biedl Syndrome
|
0.400 |
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
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We document a female affected with BBS carrying the most common BBS1 mutation (BBS1: Met390Arg) on the maternal allele and an insertion of a ~1.7-kb retrotransposon in exon 13 on the paternal allele.
|
30484961 |
2019 |
|
Bardet-Biedl Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Here we describe the successful generation of an induced pluripotent stem cell (iPSC) KCi001-A from a BBS patient compound heterozygous for two disease causing BBS1 variants c.1169T>G, p. (Met390Arg)/c.1135G>C, p.(Gly370Arg).Resource table.
|
30142598 |
2018 |
|
Bardet-Biedl Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Three different fibroblast lines, K40 and K48 from healthy controls and BBS1 from a patient with Bardet-Biedl syndrome, were used in two independent setups.
|
29603519 |
2018 |
|
Bardet-Biedl Syndrome
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
Diagnostic exome sequencing in 266 Dutch patients with visual impairment.
|
28224992 |
2017 |
|
Bardet-Biedl Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
At least 21 candidate BBS-associated genes (BBS1-19, NPHP1, and IFT172) have previously been identified, and all of them play important roles in ciliary function.
|
28624958 |
2017 |
|
Bardet-Biedl Syndrome
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel.
|
27032803 |
2016 |
|
Bardet-Biedl Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
BBS1 is the causative gene in Bardet-Biedl syndrome.
|
27434533 |
2016 |
|
Bardet-Biedl Syndrome
|
0.400 |
Biomarker
|
disease |
MGD |
Accumulation of non-outer segment proteins in the outer segment underlies photoreceptor degeneration in Bardet-Biedl syndrome.
|
26216965 |
2015 |
|
Bardet-Biedl Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In this study, 15 patients with clinically diagnosed BBS were investigated using a next generation sequencing panel which included 17 known BBS causing genes (BBS1, BBS2, ARL6, BBS4, BBS5, MKKS, BBS7, TTC8, BBS9, BBS10, TRIM32, BBS12, MKS1, NPHP6, WDPCP, SDCCAG8, NPHP1).
|
26518167 |
2015 |
|
Bardet-Biedl Syndrome
|
0.400 |
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
|
0.400 |
Biomarker
|
disease |
BEFREE |
We provide the first evidence of BBS12 mutations related to severe phenotypes as previously described for patients with BBS10, while BBS1 ocular phenotype should not be considered as mild as generally reported when compared with other BBS phenotypes.
|
26082521 |
2015 |
|
Bardet-Biedl Syndrome
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis.
|
23432027 |
2014 |
|
Bardet-Biedl Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, we show that BBS1 with the M390R mutation, responsible for 30% of all reported BBS disease cases, fails to interact with ARL6-GTP, thus providing a molecular rationale for patient pathologies.
|
25402481 |
2014 |
|
Bardet-Biedl Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The proband was screened for mutation by Sanger sequencing for a total of 142 exons of the 12 BBS-causing genes (BBS1-BBS12).
|
25533820 |
2014 |
|
Bardet-Biedl Syndrome
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis.
|
23432027 |
2014 |
|
Bardet-Biedl Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Clinical reanalysis indicated co-ocurrence of two different phenotypes in the same family: Bardet-Biedl syndrome in the individual harboring the BBS1 mutation and non-syndromic arRP in extended family members.
|
25494902 |
2014 |
|
Bardet-Biedl Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndrome.
|
23559858 |
2013 |
|
Bardet-Biedl Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
To date, 17 different genes have been reported for BBS among which BBS1 is the most common cause of the disease followed by BBS10, and BBS4.
|
23554981 |
2013 |
|
Bardet-Biedl Syndrome
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome.
|
23143442 |
2012 |
|
Bardet-Biedl Syndrome
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Phenotypic expression of Bardet-Biedl syndrome in patients homozygous for the common M390R mutation in the BBS1 gene.
|
22940089 |
2012 |
|
Bardet-Biedl Syndrome
|
0.400 |
Biomarker
|
disease |
MGD |
Abnormal development of NG2+PDGFR-α+ neural progenitor cells leads to neonatal hydrocephalus in a ciliopathy mouse model.
|
23160237 |
2012 |