1 |
Clinical evidence of decreased olfaction in Bardet-Biedl syndrome caused by a deletion in the BBS4 gene.
61
57
6
|
Iannaccone A...Sheffield VC
|
15654695 |
2005 |
2 |
BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance.
61
6
57
|
Katsanis N...Lupski JR
|
12016587 |
2002 |
3 |
Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.
6
61
57
|
Mykytyn K...Sheffield VC
|
11381270 |
2001 |
4 |
Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15.
6
57
|
Carmi R...Sheffield VC
|
7711739 |
1995 |
5 |
Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci.
57
|
Carmi R...Sheffield VC
|
8588586 |
1995 |
6 |
Interference of nonsense mutations with eukaryotic messenger RNA stability.
6
|
Losson R...Lacroute F
|
388431 |
1979 |
7 |
Bardet-Biedl Syndrome ciliopathy is linked to altered hematopoiesis and dysregulated self-tolerance.
61
|
Tsyklauri O...Stepanek O
|
33426789 |
2021 |
8 |
Photoreceptor cilia, in contrast to primary cilia, grant entry to a partially assembled BBSome.
61
|
Hsu Y...Sheffield VC
|
33517424 |
2021 |
9 |
A non-canonical Hedgehog pathway initiates ciliogenesis and autophagy.
61
|
Akhshi T...Trimble WS
|
33258871 |
2021 |
10 |
BBS4 Is Essential for Nuclear Transport of Transcription Factors Mediating Neuronal ER Stress Response.
61
|
Horwitz A...Birk R
|
32894499 |
2021 |
11 |
Islet vascularization is regulated by primary endothelial cilia via VEGF-A-dependent signaling.
61
|
Xiong Y...Berggren PO
|
33200981 |
2020 |
12 |
A novel GABRB3 variant in Dravet syndrome: Case report and literature review.
61
|
Pavone P...Falsaperla R
|
32945607 |
2020 |
13 |
Bardet-Biedl syndrome and related disorders in Japan.
61
|
Hirano M...Toda T
|
32451492 |
2020 |
14 |
The BBSome assembly is spatially controlled by BBS1 and BBS4 in human cells.
61
|
Prasai A...Huranova M
|
32759308 |
2020 |
15 |
Brain Gene Expression-DNA Methylation Correlation in Suicide Completers: Preliminary Results.
61
|
Cabrera-Mendoza B...Nicolini H
|
33057323 |
2020 |
16 |
Brain Gene Expression-DNA Methylation Correlation in Suicide Completers: Preliminary Results.
61
|
Cabrera-Mendoza B...Nicolini H
|
32488228 |
2020 |
17 |
NRF2 negatively regulates primary ciliogenesis and hedgehog signaling.
61
|
Liu P...Zhang DD
|
32053600 |
2020 |
18 |
Genome-wide suppressor screen identifies USP35/USP38 as therapeutic candidates for ciliopathies.
61
|
Tsai IC...Katsanis N
|
31723061 |
2019 |
19 |
Meta-analysis of genotype-phenotype associations in Bardet-Biedl syndrome uncovers differences among causative genes.
61
|
Niederlova V...Stepanek O
|
31283077 |
2019 |
20 |
Bardet-Biedl syndrome obesity: BBS4 regulates cellular ER stress in early adipogenesis.
61
|
Anosov M...Birk R
|
30902542 |
2019 |
21 |
BBS4 is required for intraflagellar transport coordination and basal body number in mammalian olfactory cilia.
61
|
Uytingco CR...Martens JR
|
30665891 |
2019 |
22 |
15q24.1 BP4-BP1 microdeletion unmasking paternally inherited functional polymorphisms combined with distal 15q24.2q24.3 duplication in a patient with epilepsy, psychomotor delay, overweight, ventricular arrhythmia.
61
|
Huynh MT...Receveur A
|
29549028 |
2018 |
23 |
The Bardet-Biedl syndrome protein complex is an adapter expanding the cargo range of intraflagellar transport trains for ciliary export.
61
|
Liu P...Lechtreck KF
|
29339469 |
2018 |
24 |
Bardet-Biedl syndrome-8 (BBS8) protein is crucial for the development of outer segments in photoreceptor neurons.
61
|
Dilan TL...Ramamurthy V
|
29126234 |
2018 |
25 |
Functional analysis by minigene assay of putative splicing variants found in Bardet-Biedl syndrome patients.
61
|
Alvarez-Satta M...Valverde D
|
28502102 |
2017 |
26 |
BBS4 regulates the expression and secretion of FSTL1, a protein that participates in ciliogenesis and the differentiation of 3T3-L1.
61
|
Prieto-Echague V...Badano JL
|
28852127 |
2017 |
27 |
Insulin regulates Bbs4 during adipogenesis.
61
|
Nahum N...Birk R
|
28371235 |
2017 |
28 |
A Coding Variant in the Gene Bardet-Biedl Syndrome 4 (BBS4) Is Associated with a Novel Form of Canine Progressive Retinal Atrophy.
61
|
Chew T...Wade CM
|
28533336 |
2017 |
29 |
The centriolar satellite protein CCDC66 interacts with CEP290 and functions in cilium formation and trafficking.
61
|
Conkar D...Firat-Karalar EN
|
28235840 |
2017 |
30 |
The Meckel syndrome- associated protein MKS1 functionally interacts with components of the BBSome and IFT complexes to mediate ciliary trafficking and hedgehog signaling.
61
|
Goetz SC...Anderson KV
|
28291807 |
2017 |
31 |
Ciliary Defects in a Mouse Model of Bardet-Biedl Syndrome are Selectively Pronounced in Brian Regions Involved in Cardiovascular Regulation.
61
|
Agassandian C...Agassandian K
|
30193056 |
2016 |
32 |
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.
61
|
Lindstrand A...Katsanis N
|
27486776 |
2016 |
33 |
Non-essential role for cilia in coordinating precise alignment of lens fibres.
61
|
Sugiyama Y...McAvoy JW
|
26825015 |
2016 |
34 |
Differential effects on β-cell mass by disruption of Bardet-Biedl syndrome or Alstrom syndrome genes.
61
|
Lodh S...Zaghloul NA
|
26494903 |
2016 |
35 |
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.
61
|
Ece Solmaz A...Ozkinay F
|
26518167 |
2015 |
36 |
High-Throughput Differentiation and Screening of a Library of Mutant Stem Cell Clones Defines New Host-Based Genes Involved in Rabies Virus Infection.
61
|
Wallis D...Sacchettini JC
|
25752821 |
2015 |
37 |
BBS4 and BBS5 show functional redundancy in the BBSome to regulate the degradative sorting of ciliary sensory receptors.
61
|
Xu Q...Hu J
|
26150102 |
2015 |
38 |
Architectures of multisubunit complexes revealed by a visible immunoprecipitation assay using fluorescent fusion proteins.
61
|
Katoh Y...Nakayama K
|
25964651 |
2015 |
39 |
Ciliary dysfunction impairs beta-cell insulin secretion and promotes development of type 2 diabetes in rodents.
61
|
Gerdes JM...Berggren PO
|
25374274 |
2014 |
40 |
Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein.
61
|
Su X...Zhou J
|
24939912 |
2014 |
41 |
BBS4 directly affects proliferation and differentiation of adipocytes.
61
|
Aksanov O...Birk RZ
|
24500759 |
2014 |
42 |
Ccdc13 is a novel human centriolar satellite protein required for ciliogenesis and genome stability.
61
|
Staples CJ...Collis SJ
|
24816561 |
2014 |
43 |
Mutation profile of BBS genes in Iranian patients with Bardet-Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes.
61
|
Fattahi Z...Najmabadi H
|
24849935 |
2014 |
44 |
Basal body proteins regulate Notch signaling through endosomal trafficking.
61
|
Leitch CC...Zaghloul NA
|
24681783 |
2014 |
45 |
Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators.
61
|
Liu YP...Katsanis N
|
24691443 |
2014 |
46 |
Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis.
61
|
M'hamdi O...Chaabouni H
|
23432027 |
2014 |
47 |
Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18).
61
|
Scheidecker S...Dollfus H
|
24026985 |
2014 |
48 |
The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome.
61
|
Chamling X...Sheffield VC
|
24550735 |
2014 |
49 |
BBS4 is necessary for ciliary localization of TrkB receptor and activation by BDNF.
61
|
Leitch CC...Zaghloul NA
|
24867303 |
2014 |
50 |
Ciliopathy is differentially distributed in the brain of a Bardet-Biedl syndrome mouse model.
61
|
Agassandian K...Card JP
|
24695551 |
2014 |