(Q24532051)

English

Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport

scientific article published on May 2, 2003

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scholarly article

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Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport (English)

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Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport (English)

1 reference

https://api.crossref.org/works/10.1086/375454

30 December 2023

transmembrane transport

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transmembrane protein

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1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

1 reference

https://api.crossref.org/works/10.1086/375454

30 December 2023

Jill Clayton-Smith

5

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Jean-Pierre Fryns

11

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Anna-Elina Lehesjoki

13

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Albert de la Chapelle

12

object named as

Albert de la Chapelle

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2

object named as

Graeme C. M. Black

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12730828

30 December 2023

author name string

Juha Kolehmainen

1

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Anne Saarinen

3

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Kate Chandler

4

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Ann-Liz Träskelin

6

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Rahat Perveen

7

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Satu Kivitie-Kallio

8

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Reijo Norio

9

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Mette Warburg

10

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language of work or name

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publication date

June 2003

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2 May 2003

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12730828

30 December 2023

full work available at URL

http://www.cell.com/article/S0002929707604376/pdf

Portable Document Format

online access status

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12730828

30 December 2023

https://europepmc.org/articles/PMC1180298

online access status

content deliverer

Europe PubMed Central

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12730828

30 December 2023

https://europepmc.org/articles/PMC1180298?pdf=render

Portable Document Format

online access status

content deliverer

Europe PubMed Central

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12730828

30 December 2023

https://api.elsevier.com/content/article/PII:S0002929707604376?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1086/375454

30 December 2023

https://api.elsevier.com/content/article/PII:S0002929707604376?httpAccept=text/plain

1 reference

https://api.crossref.org/works/10.1086/375454

30 December 2023

American Journal of Human Genetics

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72

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1359-69

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6

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Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180298

24 March 2017

The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180298

24 March 2017

A conserved sorting-associated protein is mutant in chorea-acanthocytosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180298

24 March 2017

Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

1 reference

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24 March 2017

Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor

1 reference

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24 March 2017

Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180298

24 March 2017

CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180298

24 March 2017

Improved tools for biological sequence comparison

1 reference

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24 March 2017

CAP3: A DNA sequence assembly program

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180298

24 March 2017

A simple method for displaying the hydropathic character of a protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180298

7 April 2017

SOI1 encodes a novel, conserved protein that promotes TGN-endosomal cycling of Kex2p and other membrane proteins by modulating the function of two TGN localization signals

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180298

24 March 2017

Allele-specific suppression of a defective trans-Golgi network (TGN) localization signal in Kex2p identifies three genes involved in localization of TGN transmembrane proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180298

24 March 2017

Cohen syndrome: essential features, natural history, and heterogeneity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180298

24 March 2017

The PROSITE database, its status in 1999

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180298

24 March 2017

A knowledge base for predicting protein localization sites in eukaryotic cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180298

7 April 2017

Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180298

27 September 2017

Finnish Disease Heritage I: characteristics, causes, background

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180298

27 September 2017

Ophthalmologic findings in Cohen syndrome. A long-term follow-up

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180298

27 September 2017

Receptor-mediated protein sorting to the vacuole in yeast: roles for a protein kinase, a lipid kinase and GTP-binding proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180298

27 September 2017

Prediction of transmembrane segments in proteins utilising multiple sequence alignments

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180298

27 September 2017

A new syndrome with hypotonia, obesity, mental deficiency, and facial, oral, ocular, and limb anomalies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180298

27 September 2017

The Cohen syndrome: does mottled retina separate a Finnish and a Jewish type?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180298

27 September 2017

Binding protein-dependent transport systems

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180298

27 September 2017

Signal-mediated sorting of membrane proteins between the endoplasmic reticulum and the golgi apparatus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180298

27 September 2017

Further delineation of the Cohen syndrome; report on chorioretinal dystrophy, leukopenia and consanguinity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180298

27 September 2017

Refined mapping of the Cohen syndrome gene by linkage disequilibrium.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180298

30 May 2018

Cohen syndrome: the clinical symptoms and stigmata at a young age.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180298

30 May 2018

Cohen syndrome gene assigned to the long arm of chromosome 8 by linkage analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180298

30 May 2018

Confirmation of the Cohen syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180298

30 May 2018

A unique signature identifies a family of zinc-dependent metallopeptidases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180298

30 May 2018

Whole genome protein domain analysis using a new method for domain clustering

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180298

29 November 2018

SOPMA: significant improvements in protein secondary structure prediction by consensus prediction from multiple alignments.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180298

29 November 2018

Peroxisomal membrane ascorbate peroxidase is sorted to a membranous network that resembles a subdomain of the endoplasmic reticulum

1 reference

https://pubmed.ncbi.nlm.nih.gov/12730828

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Does a Jewish type of Cohen syndrome truly exist?

1 reference

https://pubmed.ncbi.nlm.nih.gov/12730828

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The peroxisomal targeting signal of 3-oxoacyl-CoA thiolase from Saccharomyces cerevisiae

1 reference

https://pubmed.ncbi.nlm.nih.gov/12730828

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The targeting and assembly of peroxisomal proteins: some old rules do not apply

1 reference

https://pubmed.ncbi.nlm.nih.gov/12730828

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The sorting signals for peroxisomal membrane-bound ascorbate peroxidase are within its C-terminal tail

1 reference

https://pubmed.ncbi.nlm.nih.gov/12730828

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

release_623snj3fcnfhplzc7k37oh4msm

1 reference

https://api.fatcat.wiki/v0/release/623snj3fcnfhplzc7k37oh4msm

24 November 2022

based on heuristic

mapped directly with Wikidata item

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

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