[Biomolecular advances in hereditary epidermal disorders] (Q82543923)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16476370 AND SRC:MED&resulttype=core&format=json

16 January 2020

review article

1 reference

title

[Biomolecular advances in hereditary epidermal disorders] (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16476370 AND SRC:MED&resulttype=core&format=json

16 January 2020

author name string

Angela Hernández-Martín

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16476370 AND SRC:MED&resulttype=core&format=json

16 January 2020

publication date

1 May 2005

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16476370 AND SRC:MED&resulttype=core&format=json

Actas Dermo-Sifiliográficas

16 January 2020

published in

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16476370 AND SRC:MED&resulttype=core&format=json

16 January 2020

volume

96

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16476370 AND SRC:MED&resulttype=core&format=json

16 January 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16476370 AND SRC:MED&resulttype=core&format=json

16 January 2020

page(s)

203-216

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16476370 AND SRC:MED&resulttype=core&format=json

Keratin and keratinization

16 January 2020

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Cloning of a cDNA for steroid sulfatase: frequent occurrence of gene deletions in patients with recessive X chromosome-linked ichthyosis

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Sequence analysis of a partial deletion of the human steroid sulfatase gene reveals 3 bp of homology at deletion breakpoints

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X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadotropic hypogonadism and anosmia): linkage relationships with Xg and cloned DNA sequences from the distal short arm of the X chromosome

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Prenatal in situ hybridization test for deleted steroid sulfatase gene

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Carrier identification by FISH analysis in isolated cases of X-linked ichthyosis

7 January 2021

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Lamellar Ichthyosis Is Genetically Heterogeneous–Cases with Normal Keratinocyte Transglutaminase

7 January 2021

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Autosomal recessive lamellar ichthyosis: identification of a new mutation in transglutaminase 1 and evidence for genetic heterogeneity

7 January 2021

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Congenital recessive ichthyosis unlinked to loci for epidermal transglutaminases

7 January 2021

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Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2

7 January 2021

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Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity

7 January 2021

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Identification, by homozygosity mapping, of a novel locus for autosomal recessive congenital ichthyosis on chromosome 17p, and evidence for further genetic heterogeneity.

7 January 2021

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Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis

7 January 2021

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

7 January 2021

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Genetic and Clinical Mosaicism in a Type of Epidermal Nevus

7 January 2021

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De novo deletion of chromosome 18q in a baby with harlequin ichthyosis

7 January 2021

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Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families

7 January 2021

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LEKTI proteolytic processing in human primary keratinocytes, tissue distribution and defective expression in Netherton syndrome

7 January 2021

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The molecular basis of Sjögren-Larsson syndrome: mutation analysis of the fatty aldehyde dehydrogenase gene

7 January 2021

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Sjögren-Larsson syndrome: seven novel mutations in the fatty aldehyde dehydrogenase gene ALDH3A2.

7 January 2021

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7 January 2021

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Genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia

7 January 2021

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Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome).

7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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Dorfman--Chanarin syndrome (neutral lipid storage disease): new clinical features

7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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Darier disease with paired segmental manifestation of either excessive or absent involvement: a further step in the concept of twin spotting

7 January 2021

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

7 January 2021

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Mutations in ATP2A2 in patients with Darier's disease

7 January 2021

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Mutations in the sarcoplasmic/endoplasmic reticulum Ca2 ATPase isoform cause Darier's disease

7 January 2021

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7 January 2021

Pachyonychia congenita

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

7 January 2021

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

7 January 2021

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

7 January 2021

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Keratin 16 and keratin 17 mutations cause pachyonychia congenita

7 January 2021

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

7 January 2021

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

7 January 2021

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

7 January 2021

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

7 January 2021

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

7 January 2021

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The Molecular Pathology of Progressive Symmetric Erythrokeratoderma: A Frameshift Mutation in the Loricrin Gene and Perturbations in the Cornified Cell Envelope

7 January 2021

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The molecular basis of hereditary palmoplantar keratodermas.

7 January 2021

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Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis

7 January 2021

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Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis

7 January 2021

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Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations

7 January 2021

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Molecular interaction of connexin 30.3 and connexin 31 suggests a dominant-negative mechanism associated with erythrokeratodermia variabilis

7 January 2021

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Erythrokeratoderma variabilis without connexin 31 or connexin 30.3 gene mutation: immunohistological, ultrastructural and genetic studies

7 January 2021

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Frontiers in keratodermas: pushing the envelope

7 January 2021

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

7 January 2021

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Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma

7 January 2021

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

7 January 2021

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A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma

7 January 2021

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

7 January 2021

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Connexins, hearing and deafness: clinical aspects of mutations in the connexin 26 gene

7 January 2021

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

7 January 2021

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Loricrin Mutation in Vohwinkel’s Keratoderma Is Unique to the Variant with Ichthyosis

7 January 2021

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

7 January 2021

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Mutations in the gene encoding SLURP-1 in Mal de Meleda

7 January 2021

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Localization of a locus for the striated form of palmoplantar keratoderma to chromosome 18q near the desmosomal cadherin gene cluster.

7 January 2021

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

7 January 2021

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Striate palmoplantar keratoderma arising from desmoplakin and desmoglein 1 mutations is associated with contrasting perturbations of desmosomes and the keratin filament network

7 January 2021

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Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma

7 January 2021

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

7 January 2021

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

7 January 2021

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

7 January 2021

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Epidermolysis bullosa simplex (Dowling-Meara). A clinicopathological review

7 January 2021

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A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex.

7 January 2021

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A functional "knockout" of human keratin 14

7 January 2021

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

7 January 2021

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Complete cytolysis and neonatal lethality in keratin 5 knockout mice reveal its fundamental role in skin integrity and in epidermolysis bullosa simplex

7 January 2021

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

7 January 2021

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Expression of a truncated keratin 5 may contribute to severe palmar--plantar hyperkeratosis in epidermolysis bullosa simplex patients

7 January 2021

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

7 January 2021

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Plectin deficiency results in muscular dystrophy with epidermolysis bullosa

7 January 2021

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Human plectin: organization of the gene, sequence analysis, and chromosome localization (8q24)

7 January 2021

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Identification of a lethal form of epidermolysis bullosa simplex associated with a homozygous genetic mutation in plectin

7 January 2021

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Molecular genetics of heritable blistering disorders

7 January 2021

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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)

7 January 2021

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

7 January 2021

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Identification of a homozygous one-basepair deletion in exon 14 of the LAMB3 gene in a patient with Herlitz junctional epidermolysis bullosa and prenatal diagnosis in a family at risk for recurrence

7 January 2021

1 reference

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

7 January 2021

1 reference

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Three novel homozygous point mutations and a new polymorphism in the COL17A1 gene: relation to biological and clinical phenotypes of junctional epidermolysis bullosa

7 January 2021

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

7 January 2021

1 reference

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Altered laminin 5 expression due to mutations in the gene encoding the beta 3 chain (LAMB3) in generalized atrophic benign epidermolysis bullosa

7 January 2021

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180-kD bullous pemphigoid antigen (BP180) is deficient in generalized atrophic benign epidermolysis bullosa

7 January 2021

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Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes

7 January 2021

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

7 January 2021

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

7 January 2021

1 reference

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

7 January 2021

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Type VII collagen, anchoring fibrils, and epidermolysis bullosa

7 January 2021

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Molecular genetics of epidermolysis bullosa

7 January 2021

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Molecular basis for the dystrophic forms of epidermolysis bullosa: mutations in the type VII collagen gene

7 January 2021

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Does the position of the premature termination codon in COL7A1 correlate with the clinical severity in recessive dystrophic epidermolysis bullosa?

7 January 2021

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Differences in recurrent COL7A1 mutations in dystrophic epidermolysis bullosa: ethnic-specific and worldwide recurrent mutations

7 January 2021

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Type VII collagen is expressed but anchoring fibrils are defective in dystrophic epidermolysis bullosa inversa

7 January 2021

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Anchoring fibrils, collagen VII, and neutral metalloproteases in recessive dystrophic epidermolysis bullosa inversa

7 January 2021

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Transient bullous dermolysis of the newborn. Retention of anchoring fibril- and basal lamina-like structures in keratinocytes and evidence of collagenolysis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0001-7310(05)73072-6

Three new cases of transient bullous dermolysis of the newborn

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0001-7310(05)73072-6

Genetic Basis of Dominantly Inherited Transient Bullous Dermolysis of the Newborn: A Splice Site Mutation in the Type VII Collagen Gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0001-7310(05)73072-6

Genetic basis of Bart's syndrome: a glycine substitution mutation in the type VII collagen gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016/S0001-7310(05)73072-6

10.1016/S0001-7310(05)73072-6

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16476370 AND SRC:MED&resulttype=core&format=json

16 January 2020

1 reference