Characterization of structural changes in vimentin bearing an epidermolysis bullosa simplex-like mutation using site-directed spin labeling and electron paramagnetic resonance. (Q33996864)

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English	Characterization of structural changes in vimentin bearing an epidermolysis bullosa simplex-like mutation using site-directed spin labeling and electron paramagnetic resonance.	scientific article

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scholarly article

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15556930%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Characterization of structural changes in vimentin bearing an epidermolysis bullosa simplex-like mutation using site-directed spin labeling and electron paramagnetic resonance (English)

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15556930%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

epidermolysis bullosa

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based on heuristic

inferred from title

4

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5 January 2020

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John F Hess

1

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5 January 2020

Madhu S Budamagunta

2

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5 January 2020

Paul G FitzGerald

3

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5 January 2020

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18 November 2004

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5 January 2020

Journal of Biological Chemistry

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5 January 2020

280

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5 January 2020

3

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5 January 2020

2141-2146

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15556930%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

Structural characterization of human vimentin rod 1 and the sequencing of assembly steps in intermediate filament formation in vitro using site-directed spin labeling and electron paramagnetic resonance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904505

5 July 2018

Real-time observation of coiled-coil domains and subunit assembly in intermediate filaments.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904505

5 July 2018

Conserved segments 1A and 2B of the intermediate filament dimer: their atomic structures and role in filament assembly

1 reference

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5 July 2018

Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation

1 reference

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5 July 2018

A 'hot-spot' mutation alters the mechanical properties of keratin filament networks

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904505

5 July 2018

Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904505

5 July 2018

Coiled-coil trigger motifs in the 1B and 2B rod domain segments are required for the stability of keratin intermediate filaments

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904505

5 July 2018

Residues in the 1A rod domain segment and the linker L2 are required for stabilizing the A11 molecular alignment mode in keratin intermediate filaments

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904505

5 July 2018

A novel keratin 12 mutation in a German kindred with Meesmann's corneal dystrophy

1 reference

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5 July 2018

A new clinical perspective of corneal dystrophies through molecular genetics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904505

5 July 2018

Myopathy, myasthenic syndrome, and epidermolysis bullosa simplex due to plectin deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904505

5 July 2018

Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904505

5 July 2018

Targeted inactivation of plectin reveals essential function in maintaining the integrity of skin, muscle, and heart cytoarchitecture

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904505

5 July 2018

Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904505

5 July 2018

Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904505

5 July 2018

Gene structure and cDNA sequence identify the beaded filament protein CP49 as a highly divergent type I intermediate filament protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904505

5 July 2018

In vitro studies on the assembly properties of the lens proteins CP49, CP115: coassembly with alpha-crystallin but not with vimentin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904505

5 July 2018

The genetic basis of Weber-Cockayne epidermolysis bullosa simplex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904505

5 July 2018

Disease severity correlates with position of keratin point mutations in patients with epidermolysis bullosa simplex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904505

5 July 2018

cDNA analysis of the 49 kDa lens fiber cell cytoskeletal protein: a new, lens-specific member of the intermediate filament family?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904505

5 July 2018

Predicting coiled coils by use of pairwise residue correlations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904505

5 July 2018

Keratin 14 gene mutations in patients with epidermolysis bullosa simplex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904505

5 July 2018

A human keratin 14 "knockout": the absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904505

5 July 2018

Intermediate filaments and disease: mutations that cripple cell strength

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904505

5 July 2018

Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904505

5 July 2018

Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904505

5 July 2018

Mutations in the genes for epidermal keratins in epidermolysis bullosa and epidermolytic hyperkeratosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904505

5 July 2018

The CpG dinucleotide and human genetic disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904505

5 July 2018

Predicting coiled coils from protein sequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904505

5 July 2018

Keratin genes, epidermal differentiation and animal models for the study of human skin diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904505

5 July 2018

Epidermolysis Bullosa Simplex: Evidence in Two Families for Keratin Gene Abnormalities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904505

5 July 2018

Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: Genetic and functional analyses

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904505

5 July 2018

Mutant keratin expression in transgenic mice causes marked abnormalities resembling a human genetic skin disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904505

5 July 2018

The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation-specific epidermal keratin genes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904505

5 July 2018

Of mice and men: genetic skin diseases of keratin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904505

5 July 2018

A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2904505

5 July 2018

Modeling effects of mutations in coiled-coil structures: case study using epidermolysis bullosa simplex mutations in segment 1a of K5/K14 intermediate filaments

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M412254200

21 January 2018

A novel mutation in the helix termination motif of keratin K12 in a US family with Meesmann corneal dystrophy

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M412254200

21 January 2018

Characterization of Early Assembly Intermediates of Recombinant Human Keratins

1 reference

https://pubmed.ncbi.nlm.nih.gov/15556930

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Epidermolysis bullosa simplex

1 reference

https://pubmed.ncbi.nlm.nih.gov/15556930

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A proline residue in the alpha-helical rod domain of type I keratin 16 destabilizes keratin heterotetramers

1 reference

https://pubmed.ncbi.nlm.nih.gov/15556930

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Homozygous nonsense mutation in helix 2 of K14 causes severe recessive epidermolysis bullosa simplex

1 reference

https://pubmed.ncbi.nlm.nih.gov/15556930

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Severe palmo-plantar hyperkeratosis in Dowling-Meara epidermolysis bullosa simplex caused by a mutation in the keratin 14 gene (KRT14)

1 reference

https://pubmed.ncbi.nlm.nih.gov/15556930

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Divide-and-conquer crystallographic approach towards an atomic structure of intermediate filaments

1 reference

https://pubmed.ncbi.nlm.nih.gov/15556930

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1074/JBC.M412254200

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15556930%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15556930%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

PubMed publication ID

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15556930%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

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