Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning (Q33979104)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18381349%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

title

Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning (English)

1 reference

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5 January 2020

main subject

Bardet-Biedl syndrome 2

1 reference

ADP-ribosylation factor-like 6

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

Bardet-Biedl syndrome 5

1 reference

GOA release 2020-03-11

Bardet-Biedl syndrome

1 reference

7

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5 January 2020

Diane C Slusarski

8

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5 January 2020

author name string

Marwan K Tayeh

1

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5 January 2020

Hsan-Jan Yen

2

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5 January 2020

John S Beck

3

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5 January 2020

Charles C Searby

4

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5 January 2020

Trudi A Westfall

5

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5 January 2020

Hilary Griesbach

6

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5 January 2020

publication date

1 April 2008

1 reference

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5 January 2020

published in

Human Molecular Genetics

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5 January 2020

volume

17

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5 January 2020

issue

13

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5 January 2020

page(s)

1956-1967

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describes a project that uses

5 January 2020

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2900902/fullTextXML

inferred from PubMed Central ID database lookup

cites work

A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity

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

5 July 2018

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

5 July 2018

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Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11)

5 July 2018

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

5 July 2018

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

5 July 2018

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Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene

5 July 2018

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Dissection of epistasis in oligogenic Bardet-Biedl syndrome

5 July 2018

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Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification

5 July 2018

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5 July 2018

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

5 July 2018

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Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

5 July 2018

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

5 July 2018

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

5 July 2018

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OFD1 is a centrosomal/basal body protein expressed during mesenchymal-epithelial transition in human nephrogenesis.

5 July 2018

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Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3)

5 July 2018

1 reference

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

5 July 2018

1 reference

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

5 July 2018

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Establishing a connection between cilia and Bardet-Biedl Syndrome

5 July 2018

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5 July 2018

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The oligogenic properties of Bardet-Biedl syndrome

5 July 2018

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Hedgehog signalling in the mouse requires intraflagellar transport proteins

5 July 2018

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5 July 2018

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

5 July 2018

1 reference

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

5 July 2018

1 reference

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

5 July 2018

1 reference

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Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.

5 July 2018

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5 July 2018

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5 July 2018

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BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance

5 July 2018

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5 July 2018

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5 July 2018

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

5 July 2018

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Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.

5 July 2018

1 reference

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Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)

5 July 2018

1 reference

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Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome

5 July 2018

1 reference

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Mutations in MKKS cause Bardet-Biedl syndrome

5 July 2018

1 reference

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ADP ribosylation factor-like protein 2 (Arl2) regulates the interaction of tubulin-folding cofactor D with native tubulin

5 July 2018

1 reference

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Targeted deletion of the ATP binding domain of left-right dynein confirms its role in specifying development of left-right asymmetries

5 July 2018

1 reference

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Spatially distinct domains of cell behavior in the zebrafish organizer region

5 July 2018

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Mutation of an axonemal dynein affects left-right asymmetry in inversus viscerum mice

5 July 2018

1 reference

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Recruitment of the tinman homolog Nkx-2.5 by serum response factor activates cardiac alpha-actin gene transcription

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2900902

A functionally conserved homolog of the Drosophila segment polarity gene hh is expressed in tissues with polarizing activity in zebrafish embryos

5 July 2018

1 reference

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Expression of achaete-scute homolog 3 in Xenopus embryos converts ectodermal cells to a neural fate

5 July 2018

1 reference

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Cardiac abnormalities in the Bardet-Biedl syndrome: echocardiographic studies of 22 patients

5 July 2018

1 reference

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Differential induction of four msx homeobox genes during fin development and regeneration in zebrafish

5 July 2018

1 reference

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The Spectrum of Renal Disease in Laurence–Moon–Biedl Syndrome

5 July 2018

1 reference

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The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome

5 July 2018

1 reference

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Coordinate embryonic expression of three zebrafish engrailed genes

5 July 2018

1 reference

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Conserved function for embryonic nodal cilia.

5 July 2018

1 reference

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dackel acts in the ectoderm of the zebrafish pectoral fin bud to maintain AER signaling

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2900902

Transient establishment of anteroposterior polarity in the zebrafish pectoral fin bud in the absence of sonic hedgehog activity

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2900902

Dual action of sonic hedgehog on chondrocyte hypertrophy: retrovirus mediated ectopic sonic hedgehog expression in limb bud micromass culture induces novel cartilage nodules that are positive for alkaline phosphatase and type X collagen

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2900902

Genetic analysis of fin formation in the zebrafish, Danio rerio

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2900902

Specification of cell fates at the dorsal margin of the zebrafish gastrula.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2900902

Anterior Duplication of the Sonic hedgehog Expression Pattern in the Pectoral Fin Buds of Zebrafish Treated with Retinoic Acid

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2900902

Positional signalling and specification of digits in chick limb morphogenesis

29 October 2018

1 reference

12 December 2020

Hox gene expression in teleost fins and the origin of vertebrate digits

1 reference

12 December 2020

A cluster of noninvoluting endocytic cells at the margin of the zebrafish blastoderm marks the site of embryonic shield formation

1 reference

12 December 2020

The development of the paired fins in the Zebrafish (Danio rerio)

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDN093

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18381349%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18381349%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

PubMed publication ID

18381349

1 reference