Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene (Q24538328)

5 July 2017

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

1 reference

5 July 2017

1 reference

Bardet-Biedl syndrome

1 reference

6

Raoul Hennekam

Raoul

Hennekam

1 reference

22 October 2023

Charles C Searby

3

Charles C

Searby

1 reference

22 October 2023

Edwin M Stone

10

Edwin M

Stone

1 reference

22 October 2023

9

Leslie G Biesecker

Leslie G

Biesecker

1 reference

5 July 2017

Darryl Y Nishimura

1

Darryl Y

Nishimura

1 reference

5 July 2017

Ruth E Swiderski

2

Ruth E

Swiderski

1 reference

5 July 2017

Erik M Berg

4

Erik M

Berg

1 reference

5 July 2017

Amanda L Ferguson

5

Amanda L

Ferguson

1 reference

5 July 2017

Saul Merin

7

Saul

Merin

1 reference

5 July 2017

Richard G Weleber

8

Richard G

Weleber

1 reference

5 July 2017

Val C Sheffield

11

Val C

Sheffield

1 reference

5 July 2017

language of work or name

English

0 references

publication date

26 October 2005

1 reference

American Journal of Human Genetics

5 July 2017

1 reference

5 July 2017

77

1 reference

5 July 2017

6

1 reference

5 July 2017

1021-1033

1 reference

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

5 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285160

Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285160

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285160

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285160

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285160

A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285160

Basic local alignment search tool

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285160

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285160

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285160

A DNA polymorphism discovery resource for research on human genetic variation

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285160

The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285160

Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285160

Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285160

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285160

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285160

Decoding cilia function: defining specialized genes required for compartmentalized cilia biogenesis

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285160

The oligogenic properties of Bardet-Biedl syndrome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285160

The parathyroid hormone-responsive B1 gene is interrupted by a t(1;7)(q42;p15) breakpoint associated with Wilms' tumour

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285160

The role of Alu repeat clusters as mediators of recurrent chromosomal aberrations in tumors

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285160

Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285160

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285160

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285160

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285160

Mutations in MKKS cause Bardet-Biedl syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285160

Identification of a novel parathyroid hormone-responsive gene in human osteoblastic cells

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285160

Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285160

One short well conserved region of Alu-sequences is involved in human gene rearrangements and has homology with prokaryotic chi.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285160

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285160

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285160

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285160

Testing for triallelism: analysis of six BBS genes in a Bardet–Biedl syndrome family cohort

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285160

Expression pattern and in situ localization of the mouse homologue of the human MYOC (GLC1A) gene in adult brain.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1285160

The incidence of alkaptonuria: a study in chemical individuality. 1902 [classical article]

29 November 2018

1 reference

Crossref

https://api.crossref.org/works/10.1086%2F498323

inferred from DOI database lookup

7 January 2021

based on heuristic

A DNA Polymorphism Discovery Resource for Research on Human Genetic Variation: Table 1

1 reference

Crossref

https://api.crossref.org/works/10.1086%2F498323

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1086/498323

1 reference

release_emwekge7vjfb7fkoqh3gv7woqi

5 July 2017

0 references

PMCID

1285160

1 reference

5 July 2017

1 reference