|
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 |
The observation of disparate results in the BBS10 vs. BBS1 mutation groups is the first demonstration of physiological differences among patients with BBS caused by mutations in distinct genes.
|
21209035 |
2011 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
BBS is genetically heterogeneous with four known loci: BBS1 (11q), BBS2 (16q), BBS3 (3p), and BBS4 (15q).
|
9888993 |
1999 |
|
Bardet-Biedl Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Bardet-biedl syndrome: an atypical phenotype in brothers with a proven BBS1 mutation.
|
18766993 |
2008 |
|
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 |
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 |
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 |
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
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A novel founder BBS1 mutation explains a unique high prevalence of Bardet-Biedl syndrome in the Faroe Islands.
|
18669544 |
2009 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.
|
12118255 |
2002 |
|
Bardet-Biedl Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
BBS has been modeled historically as an autosomal recessive trait, under which premise six independent BBS loci (BBS1-BBS6) have been mapped in the human genome.
|
12016587 |
2002 |
|
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 |
Biomarker
|
disease |
BEFREE |
To date, mutations in 15 genes have been associated with the disease and BBS1 is most frequently affected in patients with BBS.
|
21520335 |
2011 |
|
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 |
BEFREE |
Eight patients with BBS (ages 11.9-28.5 years) and mutations in BBS1 (4/8) or BBS10 (4/8) were tested.
|
17980398 |
2008 |
|
Bardet-Biedl Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
To define the retinal phenotype in patients with the Bardet-Biedl syndrome and mutations in the BBS1 gene.
|
17065520 |
2006 |
|
Bardet-Biedl Syndrome
|
0.400 |
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
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The 14 patients with 2 BBS1 variants showed the entire clinical spectrum, from nonsyndromic RP to full-blown BBS.
|
23143442 |
2012 |
|
Bardet-Biedl Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
Analyses of 259 independent families segregating a BBS phenotype indicate that BBS1 participates in complex inheritance and that, in different families, mutations in BBS1 can interact genetically with mutations at each of the other known BBS genes, as well as at unknown loci, to cause the phenotype.
|
12677556 |
2003 |
|
Bardet-Biedl Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We performed a genome screen with BBS families from Newfoundland that were excluded from BBS1-5 and identified linkage with D20S189.
|
10973251 |
2000 |
|
Bardet-Biedl Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In the present study we evaluate the involvement of the BBS1 gene in a cohort of 129 probands with BBS and report 10 novel BBS1 mutations.
|
12524598 |
2003 |
|
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 |
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 |