(Q34984926)

5 August 2017

0 references

Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy (English)

1 reference

5 August 2017

0 references

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24024685%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Cinzia Bragato

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24024685%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Marina Mora

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24024685%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Isabella Moroni

8

1 reference

ORCID Public Data File 2021

author name string

Lorella Caffi

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24024685%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Flavia Blasevich

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24024685%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Sabrina Maestrini

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24024685%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Maria Luisa Bianchi

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24024685%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

Lucia Morandi

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24024685%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

language of work or name

1 reference

11 September 2013

1 reference

5 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24024685%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

volume

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24024685%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

page(s)

89

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24024685%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1186/1471-2350-14-89

13 June 2020

exact match

0 references

cites work

Alterations of excitation-contraction coupling and excitation coupled Ca(2+) entry in human myotubes carrying CAV3 mutations linked to rippling muscle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3846852

Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3846852

Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3846852

MURC/Cavin-4 and cavin family members form tissue-specific caveolar complexes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3846852

SDPR induces membrane curvature and functions in the formation of caveolae

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3846852

SRBC/cavin-3 is a caveolin adapter protein that regulates caveolae function

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3846852

Deletion of Cavin/PTRF causes global loss of caveolae, dyslipidemia, and glucose intolerance

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3846852

PTRF-Cavin, a conserved cytoplasmic protein required for caveola formation and function

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3846852

Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations

8 July 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-14-89

Biogenesis of caveolae: stepwise assembly of large caveolin and cavin complexes

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-14-89

A Japanese child with asymptomatic elevation of serum creatine kinase shows PTRF-CAVIN mutation matching with congenital generalized lipodystrophy type 4.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-14-89

Congenital generalized lipodystrophy type 4 with muscular dystrophy: clinical and pathological manifestations in early childhood.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-14-89

Heterogeneity for congenital generalized lipodystrophy in seventeen patients from Oman.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-14-89

Cavin fever: regulating caveolae

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24024685

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1471-2350-14-89

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24024685%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

13 June 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24024685%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

24024685

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24024685%20AND%20SRC:MED&resulttype=core&format=json