(Q33543165)

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

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scholarly article

1 reference

Europe PubMed Central

27 July 2017

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

1 reference

Europe PubMed Central

27 July 2017

congenital disorder

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congenital generalized lipodystrophy

1 reference

based on heuristic

inferred from title

object named as

Dominik Seelow

4

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2

object named as

Volker Straub

1 reference

Europe PubMed Central

27 July 2017

1

object named as

Anna Rajab

1 reference

Europe PubMed Central

27 July 2017

12

object named as

Simone Spuler

1 reference

Europe PubMed Central

27 July 2017

author name string

Liza J McCann

3

1 reference

Europe PubMed Central

27 July 2017

Raymonda Varon

5

1 reference

Europe PubMed Central

27 July 2017

Rita Barresi

6

1 reference

Europe PubMed Central

27 July 2017

Anne Schulze

7

1 reference

Europe PubMed Central

27 July 2017

Barbara Lucke

8

1 reference

Europe PubMed Central

27 July 2017

Susanne Lützkendorf

9

1 reference

Europe PubMed Central

27 July 2017

Mohsen Karbasiyan

10

1 reference

Europe PubMed Central

27 July 2017

Sebastian Bachmann

11

1 reference

Europe PubMed Central

27 July 2017

Markus Schuelke

13

1 reference

Europe PubMed Central

27 July 2017

publication date

12 March 2010

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Europe PubMed Central

27 July 2017

1 reference

Europe PubMed Central

27 July 2017

6

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Europe PubMed Central

27 July 2017

3

1 reference

Europe PubMed Central

27 July 2017

e1000874

1 reference

Europe PubMed Central

27 July 2017

copyright license

Creative Commons Attribution 4.0 International

12 March 2010

1 reference

April 2022 Public Data File from Crossref

copyright status

0 references

SDPR induces membrane curvature and functions in the formation of caveolae

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2837386

28 July 2018

HomozygosityMapper--an interactive approach to homozygosity mapping

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2837386

28 July 2018

Caveolae, ion channels and cardiac arrhythmias

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2837386

28 July 2018

GeneDistiller--distilling candidate genes from linkage intervals

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2837386

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2837386

28 July 2018

Heterozygous CAV1 frameshift mutations (MIM 601047) in patients with atypical partial lipodystrophy and hypertriglyceridemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2837386

28 July 2018

Caveolin-1 in extracellular matrix vesicles secreted from osteoblasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2837386

28 July 2018

Different routes of bone morphogenic protein (BMP) receptor endocytosis influence BMP signaling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2837386

28 July 2018

Rippling muscle disease may be caused by "silent" action potentials in the tubular system of skeletal muscle fibers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2837386

28 July 2018

Vectorial proteomics reveal targeting, phosphorylation and specific fragmentation of polymerase I and transcript release factor (PTRF) at the surface of caveolae in human adipocytes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2837386

28 July 2018

Acquired and inherited lipodystrophies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2837386

28 July 2018

AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2837386

28 July 2018

Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2837386

28 July 2018

Transgenic mice expressing mutant caveolin-3 show severe myopathy associated with increased nNOS activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2837386

28 July 2018

Dissecting the interaction between nitric oxide synthase (NOS) and caveolin. Functional significance of the nos caveolin binding domain in vivo

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2837386

28 July 2018

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2837386

28 July 2018

Skinfold equations for estimation of body fatness in children and youth.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2837386

28 July 2018

Lipodystrophies: disorders of adipose tissue biology

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000874

21 January 2018

Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000874

21 January 2018

Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000874

21 January 2018

Heterogeneity for congenital generalized lipodystrophy in seventeen patients from Oman.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000874

21 January 2018

Prevalence of impaired glucose tolerance among children and adolescents with marked obesity

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000874

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000874

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000874

21 January 2018

Role of caveolin-1 in the regulation of lipoprotein metabolism

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000874

21 January 2018

Targeted disruption of the neuronal nitric oxide synthase gene.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000874

21 January 2018

Identification of caveolin-1-interacting sites in neuronal nitric-oxide synthase. Molecular mechanism for inhibition of NO formation.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000874

21 January 2018

Ignition of calcium sparks in arterial and cardiac muscle through caveolae.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000874

21 January 2018

A novel role for caveolin-1 in B lymphocyte function and the development of thymus-independent immune responses.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000874

21 January 2018

Characterization of a distinct plasma membrane macrodomain in differentiated adipocytes

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000874

21 January 2018

Identification of caveolae-like structures on the surface of intact cells using scanning force microscopy

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000874

21 January 2018

Time-series investigation of fused vesicles in microvessel endothelial cells with atomic force microscopy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2837386

31 October 2018

Congenital long QT syndrome

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1000874

21 January 2018

Molecular analysis of Berardinelli-Seip congenital lipodystrophy in Oman: evidence for multiple loci

1 reference

https://pubmed.ncbi.nlm.nih.gov/20300641

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phenotypic variability in rippling muscle disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/20300641

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel subtype of congenital generalized lipodystrophy associated with muscular weakness and cervical spine instability

1 reference

https://pubmed.ncbi.nlm.nih.gov/20300641

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1371/JOURNAL.PGEN.1000874

1 reference

Europe PubMed Central

27 July 2017

1 reference

Europe PubMed Central

27 July 2017

1 reference

Europe PubMed Central

27 July 2017

ResearchGate publication ID

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