Characterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet-Biedl syndrome (Q24299600)

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English	Characterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet-Biedl syndrome	scientific article

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scholarly article

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9 March 2020

Characterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet-Biedl syndrome (English)

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9 March 2020

cilium assembly

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Coiled-coil domain containing 28B

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GOA release 2020-03-11

Coiled-coil domain containing 28B

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GOA release 2020-03-11

Bardet-Biedl syndrome

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based on heuristic

inferred from title

2

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9 March 2020

author name string

Magdalena Cardenas-Rodriguez

1

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9 March 2020

Florencia Irigoín

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9 March 2020

Héctor Romero

5

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9 March 2020

Philip L Beales

6

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publication date

27 September 2012

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1

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9 March 2020

91-105

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9 March 2020

https://scigraph.springernature.com/pub.10.1007/s00439-012-1228-5

0 references

In search of triallelism in Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1228-5

21 January 2018

Basic local alignment search tool

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1228-5

21 January 2018

Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1228-5

21 January 2018

Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1228-5

21 January 2018

Dissection of epistasis in oligogenic Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1228-5

21 January 2018

Calmodulin signaling via the IQ motif

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1228-5

21 January 2018

Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1228-5

21 January 2018

Sequence context-specific profiles for homology searching

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1228-5

21 January 2018

BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1228-5

21 January 2018

Coiled coils: a highly versatile protein folding motif

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1228-5

21 January 2018

Ciliary biology: understanding the cellular and genetic basis of human ciliopathies

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1228-5

21 January 2018

The emerging complexity of the vertebrate cilium: new functional roles for an ancient organelle

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1228-5

21 January 2018

ELM--the database of eukaryotic linear motifs

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1228-5

21 January 2018

Kupffer's vesicle is a ciliated organ of asymmetry in the zebrafish embryo that initiates left-right development of the brain, heart and gut.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1228-5

21 January 2018

Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1228-5

21 January 2018

Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1228-5

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1228-5

21 January 2018

Direct role of Bardet-Biedl syndrome proteins in transcriptional regulation

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1228-5

21 January 2018

Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1228-5

21 January 2018

A Simple, Fast, and Accurate Algorithm to Estimate Large Phylogenies by Maximum Likelihood

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1228-5

21 January 2018

The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1228-5

21 January 2018

MAFFT: a novel method for rapid multiple sequence alignment based on fast Fourier transform

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1228-5

21 January 2018

Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1228-5

21 January 2018

The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1228-5

21 January 2018

MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1228-5

21 January 2018

Planar cell polarity acts through septins to control collective cell movement and ciliogenesis.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1228-5

21 January 2018

Cilia-driven fluid flow in the zebrafish pronephros, brain and Kupffer's vesicle is required for normal organogenesis

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1228-5

21 January 2018

Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1228-5

21 January 2018

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1228-5

21 January 2018

Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1228-5

21 January 2018

A BBSome subunit links ciliogenesis, microtubule stability, and acetylation

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1228-5

21 January 2018

An algorithm for progressive multiple alignment of sequences with insertions

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1228-5

21 January 2018

Predicting coiled coils from protein sequences

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1228-5

21 January 2018

Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1228-5

21 January 2018

Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1228-5

21 January 2018

Patterns of expression of Bardet-Biedl syndrome proteins in the mammalian cochlea suggest noncentrosomal functions

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1228-5

21 January 2018

Bbs8, together with the planar cell polarity protein Vangl2, is required to establish left-right asymmetry in zebrafish.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1228-5

21 January 2018

Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1228-5

21 January 2018

A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1228-5

21 January 2018

Protein disorder in the centrosome correlates with complexity in cell types number

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1228-5

21 January 2018

Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1228-5

21 January 2018

T-Coffee: A novel method for fast and accurate multiple sequence alignment

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1228-5

21 January 2018

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1228-5

21 January 2018

Functional analysis of the NUP98-CCDC28A fusion protein

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1228-5

21 January 2018

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1228-5

21 January 2018

HHblits: lightning-fast iterative protein sequence searching by HMM-HMM alignment

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1228-5

21 January 2018

Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1228-5

21 January 2018

BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1228-5

21 January 2018

Screening of the eight BBS genes in Tunisian families: no evidence of triallelism

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1228-5

21 January 2018

Protein homology detection by HMM-HMM comparison

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1228-5

21 January 2018

HHsenser: exhaustive transitive profile search using HMM-HMM comparison

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1228-5

21 January 2018

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1228-5

21 January 2018

Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1228-5

21 January 2018

Reorganizing the protein space at the Universal Protein Resource (UniProt)

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1228-5

21 January 2018

Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1228-5

21 January 2018

Primary cilia and signaling pathways in mammalian development, health and disease.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1228-5

21 January 2018

Knockdown of Bardet-Biedl syndrome gene BBS9/PTHB1 leads to cilia defects

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1228-5

21 January 2018

Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1228-5

21 January 2018

Prediction and Functional Analysis of Native Disorder in Proteins from the Three Kingdoms of Life

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1228-5

21 January 2018

Jalview Version 2--a multiple sequence alignment editor and analysis workbench

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1228-5

21 January 2018

Bardet-Biedl syndrome-associated small GTPase ARL6 (BBS3) functions at or near the ciliary gate and modulates Wnt signaling

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1228-5

21 January 2018

Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1228-5

21 January 2018

BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes

1 reference

https://api.crossref.org/works/10.1007%2FS00439-012-1228-5

21 January 2018

Mechanisms regulating cilia growth and cilia function in endothelial cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/23015189

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey

1 reference

https://pubmed.ncbi.nlm.nih.gov/23015189

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dysfunction of axonemal dynein heavy chain Mdnah5 inhibits ependymal flow and reveals a novel mechanism for hydrocephalus formation

1 reference

https://pubmed.ncbi.nlm.nih.gov/23015189

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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10.1007/S00439-012-1228-5

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Consolidated OpenCitations Corpus – April 2017

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9 March 2020

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Consolidated OpenCitations Corpus – April 2017

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

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