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 |
Mutation profile of BBS genes in patients with Bardet-Biedl syndrome: an Italian study.
|
31196119 |
2019 |
Bardet-Biedl Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
Our findings suggest a role for BBS proteins in dendritic spine homeostasis that may be linked to the cognitive phenotype observed in BBS.
|
31479441 |
2019 |
Bardet-Biedl Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
The BBSome, a complex of eight Bardet-Biedl syndrome (BBS) proteins involved in cilia function, has emerged as an important regulator of energy balance, but the underlying cellular and molecular mechanisms are not fully understood.
|
31127052 |
2019 |
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 |
Interestingly, a BBS-associated mutation of BBS2 (R632P) is located in its α-helical domain at the interface between BBS2 and BBS9, and binding experiments indicated that this mutation disrupts the BBS2-BBS9 interaction.
|
31530639 |
2019 |
Bardet-Biedl Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In humans, mutations in this and other BBS genes cause Bardet-Biedl syndrome, a ciliopathy and a syndromic form of retinitis pigmentosa generally occurring in conjunction with kidney dysfunction, polydactyly, obesity, and/or hypogonadism.
|
31589838 |
2019 |
Bardet-Biedl Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
However, the molecular functions of particular BBS proteins and the etiology of the BBS symptoms are still largely elusive.
|
31283077 |
2019 |
Bardet-Biedl Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The recurrent mutations in BBS genes were screened in the BBS affected individuals by PCR based direct sequencing.
|
29806606 |
2018 |
Bardet-Biedl Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Here, we screened the most common BBS genes (BBS1-BBS13) using NGS in an Iranian family of a proposita displaying symptoms of BBS.
|
29633607 |
2018 |
Bardet-Biedl Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
The BBSome consists of eight BBS proteins encoded by causative genes of Bardet-Biedl syndrome (BBS), and has been implicated in the trafficking of ciliary membrane proteins, including G protein-coupled receptors (GPCRs), by connecting the IFT machinery to cargo GPCRs.
|
29590217 |
2018 |
Bardet-Biedl Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Bardet-Biedl syndrome (BBS) is genetically heterogeneous with at least 21 genes involved, and BBS10 encodes, together with BBS6 and BBS12, chaperonin-like proteins which are important for the assembly of the multiprotein complex, the BBSome encoded by other BBS genes.
|
30312873 |
2018 |
Bardet-Biedl Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
Bardet-Biedl syndrome (BBS) is a rare inherited disease caused by defects in the BBSome, an octameric complex of BBS proteins.
|
30287585 |
2018 |
Bardet-Biedl Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Leucine zipper transcription factor like 1 (Lztfl1)/BBS17 is a member of the Bardet-Biedl syndrome (BBS) gene family.
|
30423168 |
2018 |
Bardet-Biedl Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
Given the proven role of BBS proteins in the function of the primary cilium (PC) and considering the clinical overlapping of BBS with other ciliopathies, BBS is considered the result of disruption of ciliary activities.
|
29161709 |
2017 |
Bardet-Biedl Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We applied whole exome sequencing to six consanguineous families clinically diagnosed with ciliopathy-like disease, and for which mutations in predominant Bardet-Biedl syndrome (BBS) genes had previously been excluded.
|
28800606 |
2017 |
Bardet-Biedl Syndrome
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypes.
|
28800606 |
2017 |
Bardet-Biedl Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
In this review, we present a comprehensive review of those genetic, functional and evolutionary aspects concerning chaperonin-like BBS proteins, trying to provide a new perspective that expands the classical conception of BBS only from a ciliary point of view.
|
28824921 |
2017 |
Bardet-Biedl Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Sequencing of a DNA sample from a 17-year-old female affected with BBS did not identify any mutation in the known BBS genes.
|
27008867 |
2016 |
Bardet-Biedl Syndrome
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
Exploration of the cognitive, adaptive and behavioral functioning of patients affected with Bardet-Biedl syndrome.
|
25988237 |
2016 |
Bardet-Biedl Syndrome
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Large-scale discovery of novel genetic causes of developmental disorders.
|
25533962 |
2015 |
Bardet-Biedl Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
Here, we show that Bardet Biedl Syndrome (BBS) proteins are necessary for IR localization to the cell surface.
|
26103456 |
2015 |
Bardet-Biedl Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
Here we briefly review the genetics of BBS to then focus on the function of the BBS proteins, not only in the context of the cilium but also highlighting potential extra-ciliary roles that could be relevant to the etiology of the disorder.
|
26231314 |
2015 |
Bardet-Biedl Syndrome
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
Mutation analysis in 129 genes associated with other forms of retinal dystrophy in 157 families with retinitis pigmentosa based on exome sequencing.
|
25999675 |
2015 |
Bardet-Biedl Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation in BBS2 Gene in a Family with Bardet-Biedl Syndrome.
|
26078953 |
2015 |