(Q36292214)

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Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin (English)

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

Michael McDermott

13

object named as

Michael McDermott

0 references

Stuart MacGowan

object named as

Stuart MacGowan

6

0 references

object named as

Christian Cole

5

0 references

object named as

Alan D Irvine

20

0 references

Robert M Harmon

object named as

Robert M Harmon

9

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author name string

Maeve A McAleer

1

1 reference

Europe PubMed Central

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13 August 2017

Elizabeth Pohler

2

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Europe PubMed Central

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13 August 2017

Frances J D Smith

3

1 reference

Europe PubMed Central

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13 August 2017

Neil J Wilson

4

1 reference

Europe PubMed Central

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13 August 2017

Jennifer L Koetsier

7

1 reference

Europe PubMed Central

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13 August 2017

Lisa M Godsel

8

1 reference

Europe PubMed Central

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13 August 2017

Robert Gruber

10

1 reference

Europe PubMed Central

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13 August 2017

Debra Crumrine

11

1 reference

Europe PubMed Central

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13 August 2017

Peter M Elias

12

1 reference

Europe PubMed Central

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13 August 2017

Karina Butler

14

1 reference

Europe PubMed Central

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13 August 2017

Annemarie Broderick

15

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Europe PubMed Central

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13 August 2017

Ofer Sarig

16

1 reference

Europe PubMed Central

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13 August 2017

Eli Sprecher

17

1 reference

Europe PubMed Central

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13 August 2017

Kathleen J Green

18

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13 August 2017

W H Irwin McLean

19

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13 August 2017

language of work or name

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publication date

12 June 2015

1 reference

Europe PubMed Central

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13 August 2017

The Journal of Allergy and Clinical Immunology

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Europe PubMed Central

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13 August 2017

136

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

5

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

1268-1276

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

Disease mutations in desmoplakin inhibit Cx43 membrane targeting mediated by desmoplakin-EB1 interactions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4649901

30 September 2017

Genetic skin diseases related to desmosomes and corneodesmosomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4649901

30 September 2017

Desmoglein-1 regulates esophageal epithelial barrier function and immune responses in eosinophilic esophagitis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4649901

30 September 2017

Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4649901

30 September 2017

New insights into atopic dermatitis: role of skin barrier and immune dysregulation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4649901

30 September 2017

Desmoglein-1/Erbin interaction suppresses ERK activation to support epidermal differentiation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4649901

30 September 2017

Defects of filaggrin-like proteins in both lesional and nonlesional atopic skin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4649901

30 September 2017

The multifunctional role of filaggrin in allergic skin disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4649901

30 September 2017

Fast gapped-read alignment with Bowtie 2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4649901

30 September 2017

Cell-cell connectivity: desmosomes and disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4649901

30 September 2017

Desmosomal genodermatoses

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4649901

30 September 2017

Crystal structure of a rigid four-spectrin-repeat fragment of the human desmoplakin plakin domain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4649901

30 September 2017

Nonlesional atopic dermatitis skin is characterized by broad terminal differentiation defects and variable immune abnormalities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4649901

30 September 2017

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4649901

30 September 2017

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4649901

30 September 2017

Desmoglein 1-dependent suppression of EGFR signaling promotes epidermal differentiation and morphogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4649901

30 September 2017

Epidermal barrier dysfunction in atopic dermatitis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4649901

30 September 2017

Filaggrin's fuller figure: a glimpse into the genetic architecture of atopic dermatitis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4649901

30 September 2017

Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4649901

30 September 2017

Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4649901

30 September 2017

The differentiation-dependent desmosomal cadherin desmoglein 1 is a novel caspase-3 target that regulates apoptosis in keratinocytes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4649901

30 September 2017

Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4649901

30 September 2017

Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4649901

30 September 2017

Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4649901

30 September 2017

Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4649901

30 September 2017

Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4649901

30 September 2017

Compositionally different desmosomes in the various compartments of the human hair follicle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4649901

30 September 2017

The amino-terminal domain of desmoplakin binds to plakoglobin and clusters desmosomal cadherin-plakoglobin complexes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4649901

30 September 2017

Loss of desmoglein 1 associated with palmoplantar keratoderma, dermatitis and multiple allergies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4649901

22 September 2018

Association between polymorphisms in serine protease inhibitor, kazal type 5 and asthma phenotypes in a large German population sample

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4649901

22 September 2018

Novel proline substitution mutations in keratin 16 in two cases of pachyonychia congenita type 1

1 reference

https://pubmed.ncbi.nlm.nih.gov/26073755

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Alpha-helix stability in proteins. I. Empirical correlations concerning substitution of side-chains at the N and C-caps and the replacement of alanine by glycine or serine at solvent-exposed surfaces

1 reference

https://pubmed.ncbi.nlm.nih.gov/26073755

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The head domain of plakophilin-1 binds to desmoplakin and enhances its recruitment to desmosomes. Implications for cutaneous disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/26073755

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inflammatory peeling skin syndrome caused by a mutation in CDSN encoding corneodesmosin

1 reference

https://pubmed.ncbi.nlm.nih.gov/26073755

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.JACI.2015.05.002

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

13 August 2017

ResearchGate publication ID

0 references

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