(Q34063956)

30 July 2017

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title

Recent advances in the molecular basis of inherited skin diseases (English)

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30 July 2017

McGrath JA

1

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30 July 2017

Eady RA

series ordinal

2

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30 July 2017

publication date

1 January 2001

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30 July 2017

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30 July 2017

volume

43

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30 July 2017

page(s)

1-32

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Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma 2 subunit of nicein/kalinin (LAMININ-5)

30 July 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

Alopecia universalis associated with a mutation in the human hairless gene

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

A missense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia in a family of Irish travellers

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

Genomic organization of the human hairless gene (HR) and identification of a mutation underlying congenital atrichia in an Arab Palestinian family

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

Autosomal recessive inheritance of erythrokeratoderma variabilis

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

Ichthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the literature

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

Structure and function of hemidesmosomes: more than simple adhesion complexes

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

Hereditary skin diseases of anchoring fibrils

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

Direct cutaneous gene delivery in a human genetic skin disease

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

Prenatal diagnosis for recessive dystrophic epidermolysis bullosa in 10 families by mutation and haplotype analysis in the type VII collagen gene (COL7A1)

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

Mutation-based prenatal diagnosis of Herlitz junctional epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

Cloning, genomic organization, alternative transcripts and mutational analysis of the gene responsible for autosomal recessive universal congenital alopecia

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

Epithelial stem cells in the skin: definition, markers, localization and functions

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

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%2FS0065-2660%2801%2943002-1

7 January 2021

Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

Corrective transduction of human epidermal stem cells in laminin-5-dependent junctional epidermolysis bullosa.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

Sustainable cutaneous gene delivery

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

Clinicopathological correlations of compound heterozygous COL7A1 mutations in recessive dystrophic epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

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%2FS0065-2660%2801%2943002-1

7 January 2021

Functional Re-expression of laminin-5 in laminin-gamma2-deficient human keratinocytes modifies cell morphology, motility, and adhesion

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

Some, but not all, glycine substitution mutations in COL7A1 result in intracellular accumulation of collagen VII, loss of anchoring fibrils, and skin blistering

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

Diagnostic dilemma of "sporadic" cases of dystrophic epidermolysis bullosa: a new dominant or mitis recessive mutation?

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

How realistic is cutaneous gene therapy?

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

A homozygous insertion-deletion in the type VII collagen gene (COL7A1) in Hallopeau-Siemens dystrophic epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

Exclusion of linkage between the collagenase gene and generalized recessive dystrophic epidermolysis bullosa phenotype

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

Mutations of keratinocyte transglutaminase in lamellar ichthyosis

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

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%2FS0065-2660%2801%2943002-1

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%2FS0065-2660%2801%2943002-1

7 January 2021

Selective involvement of keratins K1 and K10 in the cytoskeletal abnormality of epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma)

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

The molecular pathology of progressive symmetric erythrokeratoderma: a frameshift mutation in the loricrin gene and perturbations in the cornified cell envelope

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

Structural organization of cornified cell envelopes and alterations in inherited skin disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

The palmoplantar keratodermas: much more than palms and soles.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

Loricrin mutation in Vohwinkel's keratoderma is unique to the variant with ichthyosis

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: implications for protein structure and clinical phenotype.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

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%2FS0065-2660%2801%2943002-1

7 January 2021

Intermediate Filaments: A Chemically Heterogeneous, Developmentally Regulated Class of Proteins

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

The basal keratin network of stratified squamous epithelia: defining K15 function in the absence of K14.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

Update on inherited bullous dermatoses

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

Structural variations in anchoring fibrils in dystrophic epidermolysis bullosa: correlation with type VII collagen expression

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

Compound heterozygosity for nonsense ans missense mutations in the LAMB3 gene in nonlethal junctional epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

Preimplantation genetic diagnosis of severe inherited skin diseases

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

Moderation of phenotypic severity in dystrophic and junctional forms of epidermolysis bullosa through in-frame skipping of exons containing non-sense or frameshift mutations.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

Keratin 16 and keratin 17 mutations cause pachyonychia congenita

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

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%2FS0065-2660%2801%2943002-1

7 January 2021

Pyloric atresia-junctional epidermolysis bullosa syndrome: mutations in the integrin beta4 gene (ITGB4) in two unrelated patients with mild disease

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

E210K mutation in the gene encoding the beta3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

Molecular pathology of the cutaneous basement membrane zone

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

Genetic and Clinical Mosaicism in a Type of Epidermal Nevus

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

Mapping of a second locus for lamellar ichthyosis to chromosome 2q33-35.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

Lamellar ichthyosis: further narrowing, physical and expression mapping of the chromosome 2 candidate locus

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

Mutations in the gamma 2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

A homozygous nonsense mutation in the beta 3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

Homozygous alpha6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK).

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

Prenatal diagnosis of epidermolysis bullosa letalis

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

Epidermolysis Bullosa: Novel and De Novo Premature Termination Codon and Deletion Mutations in the Plectin Gene Predict Late-Onset Muscular Dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

A functional "knockout" of human keratin 14

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

A homozygous mutation in the integrin alpha6 gene in junctional epidermolysis bullosa with pyloric atresia

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

BP180 gene delivery in junctional epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

Control of scarring in adult wounds by neutralising antibody to transforming growth factor beta

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

Role of elevated plasma transforming growth factor-beta1 levels in wound healing

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

Compound heterozygosity for silent and dominant glycine substitution mutations in COL7A1 leads to a marked transient intracytoplasmic retention of procollagen VII and a moderately severe dystrophic epidermolysis bullosa phenotype

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

Plectin deficiency results in muscular dystrophy with epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

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%2FS0065-2660%2801%2943002-1

7 January 2021

Hot spot mutations in keratin 2e suggest a correlation between genotype and phenotype in patients with ichthyosis bullosa of Siemens

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferred by mutations in the 2B domain of keratin K1

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

Compound heterozygosity for a recessive glycine substitution and a splice site mutation in the COL7A1 gene causes an unusually mild form of localized recessive dystrophic epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

Epidermolysis bullosa: a spectrum of clinical phenotypes explained by molecular heterogeneity

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

Corrective gene transfer of keratinocytes from patients with junctional epidermolysis bullosa restores assembly of hemidesmosomes in reconstructed epithelia

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

The gene for hypotrichosis of Marie Unna maps between D8S258 and D8S298: exclusion of the hr gene by cDNA and genomic sequencing

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

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%2FS0065-2660%2801%2943002-1

7 January 2021

Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

7 January 2021

Comparative Mutation Detection Screening of the Type VII Collagen Gene (COL7A1) Using the Protein Truncation Test, Fluorescent Chemical Cleavage of Mismatch, and Conformation Sensitive Gel Electrophoresis

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943002-1

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%2FS0065-2660%2801%2943002-1

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%2FS0065-2660%2801%2943002-1

7 January 2021

10.1016/S0065-2660(01)43002-1

Identifiers

DOI

1 reference

30 July 2017

1 reference