(Q37499984)

20 August 2017

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title

Progress in heritable skin diseases: translational implications of mutation analysis and prospects of molecular therapies*. (English)

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20 August 2017

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1

Jouni Uitto

1 reference

20 August 2017

Jouni Uitto

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6541914&resulttype=core&format=json

14 May 2020

language of work or name

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1 January 2009

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Acta Dermato-Venereologica

20 August 2017

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6541914&resulttype=core&format=json

14 May 2020

volume

89

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6541914&resulttype=core&format=json

14 May 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6541914&resulttype=core&format=json

14 May 2020

page(s)

228-235

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6541914&resulttype=core&format=json

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

14 May 2020

cites work

1 reference

12 December 2020

Targeted inactivation of the type VII collagen gene (Col7a1) in mice results in severe blistering phenotype: a model for recessive dystrophic epidermolysis bullosa.

1 reference

12 December 2020

Preimplantation genetic diagnosis in two families at risk for recurrence of Herlitz junctional epidermolysis bullosa

1 reference

12 December 2020

The genodermatoses: candidate diseases for gene therapy

1 reference

12 December 2020

Quantification of all fetal nucleated cells in maternal blood between the 18th and 22nd weeks of pregnancy using molecular cytogenetic techniques

1 reference

12 December 2020

Genotype-phenotype correlation in skin fragility-ectodermal dysplasia syndrome resulting from mutations in plakophilin 1

1 reference

12 December 2020

Progress in heritable skin diseases: molecular bases and clinical implications

1 reference

12 December 2020

Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk.

1 reference

12 December 2020

A usual frameshift and delayed termination codon mutation in keratin 5 causes a novel type of epidermolysis bullosa simplex with migratory circinate erythema.

1 reference

12 December 2020

Probing the fetal genome: progress in non-invasive prenatal diagnosis

1 reference

12 December 2020

Molecular genetics of the cutaneous basement membrane zone. Perspectives on epidermolysis bullosa and other blistering skin diseases

1 reference

12 December 2020

Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome.

1 reference

12 December 2020

Homozygous splice site mutations in PKP1 result in loss of epidermal plakophilin 1 expression and underlie ectodermal dysplasia/skin fragility syndrome in two consanguineous families.

1 reference

12 December 2020

Injection of recombinant human type VII collagen restores collagen function in dystrophic epidermolysis bullosa

1 reference

12 December 2020

Progress in epidermolysis bullosa: from eponyms to molecular genetic classification

1 reference

12 December 2020

Animal models of epidermolysis bullosa--targets for gene therapy

1 reference

12 December 2020

Prenatal diagnosis. An earlier look at baby's genes

1 reference

12 December 2020

Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa

1 reference

12 December 2020

Fibroblasts show more potential as target cells than keratinocytes in COL7A1 gene therapy of dystrophic epidermolysis bullosa

1 reference

12 December 2020

Preimplantation genetic diagnosis of skin fragility-ectodermal dysplasia syndrome

1 reference

12 December 2020

Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants

1 reference

12 December 2020

Noninvasive prenatal diagnosis by analysis of fetal DNA in maternal plasma.

1 reference

12 December 2020

Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes

1 reference

12 December 2020

Correction of junctional epidermolysis bullosa by transplantation of genetically modified epidermal stem cells.

1 reference

12 December 2020

Intravenously injected human fibroblasts home to skin wounds, deliver type VII collagen, and promote wound healing

1 reference

12 December 2020

Unusual molecular findings in Kindler syndrome

1 reference

12 December 2020

Protein therapeutics for junctional epidermolysis bullosa: incorporation of recombinant beta3 chain into laminin 332 in beta3-/- keratinocytes in vitro

1 reference

12 December 2020

The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB

1 reference

12 December 2020

Potential of fibroblast cell therapy for recessive dystrophic epidermolysis bullosa.

1 reference

12 December 2020

RHD genotyping from maternal plasma: guidelines and technical challenges

1 reference

12 December 2020

A microarray approach for systematic identification of placental-derived RNA markers in maternal plasma.

1 reference

12 December 2020

Bone marrow cell transfer into fetal circulation can ameliorate genetic skin diseases by providing fibroblasts to the skin and inducing immune tolerance

1 reference

12 December 2020

Epidermolysis bullosa: prospects for cell-based therapies

1 reference

12 December 2020

Amelioration of epidermolysis bullosa by transfer of wild-type bone marrow cells

1 reference

12 December 2020

Injection of recombinant human type VII collagen corrects the disease phenotype in a murine model of dystrophic epidermolysis bullosa

1 reference

12 December 2020

Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms

1 reference

12 December 2020

Non-invasive prenatal diagnosis using fetal cells in maternal blood

1 reference

12 December 2020

Male fetal progenitor cells persist in maternal blood for as long as 27 years postpartum

1 reference

12 December 2020

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

1 reference

12 December 2020

Hemidesmosomal variants of epidermolysis bullosa. Mutations in the alpha6beta4 integrin and the 180-kD bullous pemphigoid antigen/type XVII collagen genes

1 reference

12 December 2020

Rapid clearance of fetal DNA from maternal plasma

1 reference

12 December 2020

Identifiers

DOI

10.2340/00015555-0648

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6541914&resulttype=core&format=json

14 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6541914&resulttype=core&format=json

14 May 2020

1 reference