(Q37493088)

20 August 2017

CACP syndrome: identification of five novel mutations and of the first case of UPD in the largest European cohort (English)

1 reference

20 August 2017

9

Angelo Ravelli

1 reference

20 August 2017

Sara Ciullini Mannurita

1

1 reference

20 August 2017

Marina Vignoli

2

1 reference

20 August 2017

Lucia Bianchi

3

1 reference

20 August 2017

Anuela Kondi

4

1 reference

20 August 2017

Valeria Gerloni

5

1 reference

20 August 2017

Luciana Breda

6

1 reference

20 August 2017

Rebecca Ten Cate

7

1 reference

20 August 2017

Maria Alessio

8

1 reference

20 August 2017

Fernanda Falcini

10

1 reference

20 August 2017

Eleonora Gambineri

11

1 reference

20 August 2017

12 June 2013

1 reference

European Journal of Human Genetics

20 August 2017

1 reference

20 August 2017

22

1 reference

20 August 2017

2

1 reference

20 August 2017

197-201

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2013.123

20 August 2017

0 references

cites work

Loss of cartilage structure, stiffness, and frictional properties in mice lacking PRG4.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895642

Achondroplasia: from genotype to phenotype

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895642

Novel PRG4 mutations underlie CACP in Saudi families

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895642

Consequences of disease-causing mutations on lubricin protein synthesis, secretion, and post-translational processing.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895642

The secreted glycoprotein lubricin protects cartilage surfaces and inhibits synovial cell overgrowth

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895642

Immunolocalisation and expression of proteoglycan 4 (cartilage superficial zone proteoglycan) in tendon

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895642

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895642

Isolation, characterization and mapping of the mouse and human PRG4 (proteoglycan 4) genes

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895642

Lubricin is a product of megakaryocyte stimulating factor gene expression by human synovial fibroblasts.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895642

Primer3 on the WWW for general users and for biologist programmers

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895642

CACP, encoding a secreted proteoglycan, is mutated in camptodactyly-arthropathy-coxa vara-pericarditis syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895642

The camptodactyly-arthropathy-coxa vara-pericarditis syndrome: clinical features and genetic mapping to human chromosome 1.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895642

Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895642

Camptodactyly-arthropathy-coxavara-pericarditis syndrome in Saudi Arabia: clinical and molecular genetic findings in 22 patients

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895642

Improved splice site detection in Genie

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895642

Prediction of human mRNA donor and acceptor sites from the DNA sequence

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895642

Characterization of a bovine synovial fluid lubricating factor. I. Chemical, surface activity and lubricating properties

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895642

Rhizomelic chrondrodysplasia punctata type 2 resulting from paternal isodisomy of chromosome 1.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895642

Boundary lubrication by lubricin is mediated by O-linked beta(1-3)Gal-GalNAc oligosaccharides

11 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3895642

A novel mutation in PRG4 gene underlying camptodactyly-arthropathy-coxa vara-pericarditis syndrome with the possible expansion of the phenotype to include congenital cataract

11 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2013.123

A familial syndrome of pericarditis, arthritis, and camptodactyly

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23756439

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A familial syndrome of pericarditis, arthritis, camptodactyly, and coxa vara

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23756439

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A novel deletion mutation in proteoglycan-4 underlies camptodactyly-arthropathy-coxa-vara-pericarditis syndrome in a consanguineous pakistani family

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23756439

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2013.123

1 reference

Dimensions Publication ID

20 August 2017

0 references

1 reference

20 August 2017

PubMed publication ID

23756439

1 reference