(Q28588862)

22 June 2017

title

Alms1-disrupted mice recapitulate human Alström syndrome (English)

1 reference

ALMS1, centrosome and basal body associated

22 June 2017

main subject

1 reference

GOA release 2020-03-11

1 reference

G B Collin

1 reference

22 June 2017

E Cyr

1 reference

22 June 2017

R Bronson

1 reference

22 June 2017

J D Marshall

1 reference

22 June 2017

E J Gifford

1 reference

22 June 2017

W Hicks

1 reference

22 June 2017

S A Murray

1 reference

22 June 2017

Q Y Zheng

1 reference

22 June 2017

R S Smith

1 reference

22 June 2017

P M Nishina

1 reference

22 June 2017

J K Naggert

1 reference

22 June 2017

publication date

6 July 2005

1 reference

22 June 2017

published in

Human Molecular Genetics

1 reference

22 June 2017

1 reference

22 June 2017

1 reference

22 June 2017

page(s)

2323-2333

1 reference

Subcellular localization of ALMS1 supports involvement of centrosome and basal body dysfunction in the pathogenesis of obesity, insulin resistance, and type 2 diabetes

22 June 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2862911

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

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2862911

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

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2862911

Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2862911

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

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2862911

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

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2862911

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

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2862911

Proteomic characterization of the human centrosome by protein correlation profiling

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2862911

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

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2862911

17 March 2017

Intraflagellar transport

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2862911

Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2862911

Integration of splicing, transport and translation to achieve mRNA quality control by the nonsense-mediated decay pathway

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2862911

Retinal degeneration in tulp1-/- mice: vesicular accumulation in the interphotoreceptor matrix

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2862911

Assessment of hearing in 80 inbred strains of mice by ABR threshold analyses

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2862911

The centrosome in human genetic disease

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2862911

Genome-wide transcriptional analysis of flagellar regeneration in Chlamydomonas reinhardtii identifies orthologs of ciliary disease genes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2862911

Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: a specific syndrome (not hitherto described) distinct from the Laurence-Moon-Bardet-Biedl syndrome: a clinical, endocrinological and genetic examination based on

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2862911

BayGenomics: a resource of insertional mutations in mouse embryonic stem cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2862911

Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2862911

Transgenic mice carrying the dominant rhodopsin mutation P347S: evidence for defective vectorial transport of rhodopsin to the outer segments

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2862911

Mouse model for Usher syndrome: linkage mapping suggests homology to Usher type I reported at human chromosome 11p15.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2862911

Rhodopsin and phototransduction: a model system for G protein-linked receptors

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2862911

Animal models of non‐insulin‐dependent diabetes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2862911

Genealogy, natural history, and phenotype of Alström syndrome in a large Acadian kindred and three additional families

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2862911

Development and degeneration of retina in rds mutant mice: electron microscopy

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2862911

Natural history of Alström syndrome in early childhood: onset with dilated cardiomyopathy.

3 June 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI235

New Alström syndrome phenotypes based on the evaluation of 182 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI235

The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI235

Lack of association between gene variants in the ALMS1 gene and Type 2 diabetes mellitus

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI235

Alström syndrome: intrafamilial phenotypic variability in sibs with a novel nonsense mutation of the ALMS1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI235

Absolute quantitation of normal and ROS-induced patterns of gene expression: an in vivo real-time PCR study in mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI235

Fat (fat) and tubby (tub): two autosomal recessive mutations causing obesity syndromes in the mouse

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16000322

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Post-Golgi trafficking of rhodopsin in retinal photoreceptors

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16000322

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Role of microtubules in the organization of the Golgi complex

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16000322

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDI235

1 reference

OpenCitations bibliographic resource ID

22 June 2017

1700631

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1700631

1 reference