(Q81261827)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15646618%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

title

Molecular genetics methods for human intermediate filament diseases (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15646618%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

1 reference

Frances J D Smith

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15646618%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Aileen Sandilands

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15646618%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

W H Irwin McLean

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15646618%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

publication date

1 January 2004

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15646618%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

published in

Methods in Cell Biology

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15646618%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

volume

78

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15646618%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

page(s)

131-161

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15646618%20AND%20SRC:MED&resulttype=core&format=json

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

7 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2804%2978006-1

7 January 2021

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2804%2978006-1

7 January 2021

Mutation of a type II keratin gene (K6a) in pachyonychia congenita

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2804%2978006-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2804%2978006-1

7 January 2021

Appearance of the keratin pair K3/K12 during embryonic and adult corneal epithelial differentiation in the chick and in the rabbit.

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2804%2978006-1

7 January 2021

Rapid mutation detection by the transgenomic wave analyser DHPLC identifies MYOC mutations in patients with ocular hypertension and/or open angle glaucoma

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2804%2978006-1

7 January 2021

A juvenile-onset, progressive cataract locus on chromosome 3q21-q22 is associated with a missense mutation in the beaded filament structural protein-2

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2804%2978006-1

7 January 2021

Molecular genetics of Meesmann's corneal dystrophy: ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human KRT12 gene.

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2804%2978006-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2804%2978006-1

7 January 2021

'Hard' and 'soft' principles defining the structure, function and regulation of keratin intermediate filaments

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2804%2978006-1

7 January 2021

Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2804%2978006-1

7 January 2021

Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2804%2978006-1

7 January 2021

Revised classification system for inherited epidermolysis bullosa: Report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2804%2978006-1

7 January 2021

A structural scaffolding of intermediate filaments in health and disease

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2804%2978006-1

7 January 2021

Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2804%2978006-1

7 January 2021

Missense mutations in desmin associated with familial cardiac and skeletal myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2804%2978006-1

7 January 2021

Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2804%2978006-1

7 January 2021

A gene for monilethrix is closely linked to the type II keratin gene cluster at 12q13

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2804%2978006-1

7 January 2021

Intermediate filaments: novel assembly models and exciting new functions for nuclear lamins

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2804%2978006-1

7 January 2021

Comprehensive analysis of keratin gene clusters in humans and rodents

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2804%2978006-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2804%2978006-1

7 January 2021

A mutation in the V1 domain of keratin 5 causes epidermolysis bullosa simplex with mottled pigmentation.

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2804%2978006-1

7 January 2021

Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2804%2978006-1

7 January 2021

Epidermolysis Bullosa Simplex (Dowling-Meara Type) Is a Genetic Disease Characterized by an Abnormal Keratin-Filament Network Involving Keratins K5 and K14

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2804%2978006-1

7 January 2021

Effects of keratin 14 ablation on the clinical and cellular phenotype in a kindred with recessive epidermolysis bullosa simplex

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2804%2978006-1

7 January 2021

Keratin 8 mutations in patients with cryptogenic liver disease

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2804%2978006-1

7 January 2021

Mutation of human keratin 18 in association with cryptogenic cirrhosis

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2804%2978006-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2804%2978006-1

7 January 2021

Insertional mutation of the Drosophila nuclear lamin Dm0 gene results in defective nuclear envelopes, clustering of nuclear pore complexes, and accumulation of annulate lamellae

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2804%2978006-1

7 January 2021

Muscular dystrophies, dilated cardiomyopathy, lipodystrophy and neuropathy: the nuclear connection

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2804%2978006-1

7 January 2021

Colocalization of emerin and lamins in interphase nuclei and changes during mitosis

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2804%2978006-1

7 January 2021

Distribution of emerin and lamins in the heart and implications for Emery-Dreifuss muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2804%2978006-1

7 January 2021

Genetic disorders of palm skin and nail

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2804%2978006-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2804%2978006-1

7 January 2021

Keratin 16 and keratin 17 mutations cause pachyonychia congenita

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2804%2978006-1

7 January 2021

A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2804%2978006-1

7 January 2021

A dysfunctional desmin mutation in a patient with severe generalized myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2804%2978006-1

7 January 2021

Human keratin 8 mutations that disturb filament assembly observed in inflammatory bowel disease patients.

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2804%2978006-1

7 January 2021

Phenotypes, genotypes and their contribution to understanding keratin function

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2804%2978006-1

7 January 2021

Keratin 13 point mutation underlies the hereditary mucosal epithelial disorder white sponge nevus

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2804%2978006-1

7 January 2021

Prenatal diagnosis of epidermolytic hyperkeratosis by direct gene sequencing

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2804%2978006-1

7 January 2021

DNA based prenatal testing for the skin blistering disorder epidermolysis bullosa simplex

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2804%2978006-1

7 January 2021

A mutation in the mucosal keratin K4 is associated with oral white sponge nevus

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2804%2978006-1

7 January 2021

A functional "knockout" of human keratin 14

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2804%2978006-1

7 January 2021

LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2804%2978006-1

7 January 2021

Plectin deficiency results in muscular dystrophy with epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2804%2978006-1

7 January 2021

A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2804%2978006-1

7 January 2021

A mutation detection strategy for the human keratin 6A gene and novel missense mutations in two cases of pachyonychia congenita type 1

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2804%2978006-1

7 January 2021

Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenita type 1

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2804%2978006-1

7 January 2021

Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita.

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2804%2978006-1

7 January 2021

Two Cases of Primarily Palmoplantar Keratoderma Associated with Novel Mutations in Keratin 1

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2804%2978006-1

7 January 2021

Atypical epidermolytic palmoplantar keratoderma presentation associated with a mutation in the keratin 1 gene

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2804%2978006-1

7 January 2021

The genetic basis of epidermolysis bullosa simplex with mottled pigmentation

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2804%2978006-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2804%2978006-1

7 January 2021

A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2804%2978006-1

7 January 2021

Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2804%2978006-1

7 January 2021

An unusual Ala12Thr polymorphism in the 1A alpha-helical segment of the companion layer-specific keratin K6hf: evidence for a risk factor in the etiology of the common hair disorder pseudofolliculitis barbae

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2804%2978006-1

7 January 2021

Long-range polymerase chain reaction for specific full-length amplification of the human keratin 14 gene and novel keratin 14 mutations in epidermolysis bullosa simplex patients.

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2804%2978006-1

7 January 2021

How do mutations in lamins A and C cause disease?

1 reference

https://api.crossref.org/works/10.1016%2FS0091-679X%2804%2978006-1

7 January 2021

10.1016/S0091-679X(04)78006-1

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15646618%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

1 reference