Genetic diseases of junctions. (Q37002828)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18007692%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

review article

1 reference

title

Genetic diseases of junctions (English)

1 reference

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26 December 2019

1 reference

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26 December 2019

Joey E Lai-Cheong

1 reference

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26 December 2019

Ken Arita

series ordinal

1 reference

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26 December 2019

language of work or name

English

0 references

publication date

1 December 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18007692%20AND%20SRC:MED&resulttype=core&format=json

Journal of Investigative Dermatology

26 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18007692%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

volume

127

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26 December 2019

issue

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26 December 2019

page(s)

2713-2725

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18007692%20AND%20SRC:MED&resulttype=core&format=json

A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair

26 December 2019

cites work

1 reference

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7 January 2021

G59S mutation in the GJB2 (connexin 26) gene in a patient with Bart-Pumphrey syndrome

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7 January 2021

Arrhythmogenic right ventricular cardiomyopathy caused by deletions in plakophilin-2 and plakoglobin (Naxos disease) in families from Greece and Cyprus: genotype-phenotype relations, diagnostic features and prognosis

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7 January 2021

A novel N14Y mutation in Connexin26 in keratitis-ichthyosis-deafness syndrome: analyses of altered gap junctional communication and molecular structure of N terminus of mutated Connexin26.

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7 January 2021

Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma

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7 January 2021

A novel locus for autosomal recessive form of hypotrichosis maps to chromosome 3q26.33-q27.3

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7 January 2021

DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy

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7 January 2021

Homozygosity mapping of a locus for a novel syndromic ichthyosis to chromosome 3q27-q28.

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7 January 2021

Knuckle pads, leukonychia and deafness. A dominantly inherited syndrome

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7 January 2021

Clinical profile of four families with arrhythmogenic right ventricular cardiomyopathy caused by dominant desmoplakin mutations

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7 January 2021

Connexin mutations in X-linked Charcot-Marie-Tooth disease

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7 January 2021

Connexin 50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani origin

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7 January 2021

Embryonic heart and skin defects in mice lacking plakoglobin

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7 January 2021

A novel GJB2 (connexin 26) mutation, F142L, in a patient with unusual mucocutaneous findings and deafness

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7 January 2021

Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.

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7 January 2021

Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT.

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7 January 2021

Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy

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7 January 2021

Structure of the armadillo repeat domain of plakophilin 1

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7 January 2021

Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair (Naxos disease) maps to 17q21

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7 January 2021

A non-sense mutation in the corneodesmosin gene in a Mexican family with hypotrichosis simplex of the scalp

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7 January 2021

Connexin 26 gene linked to a dominant deafness

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7 January 2021

Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1.

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7 January 2021

Cell-free synthesis and assembly of connexins into functional gap junction membrane channels

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7 January 2021

A man, a syndrome, a gene: Clouston's hidrotic ectodermal dysplasia (HED).

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7 January 2021

Claudin-based tight junctions are crucial for the mammalian epidermal barrier: a lesson from claudin-1-deficient mice

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7 January 2021

Claudins in occluding junctions of humans and flies

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7 January 2021

Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy

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7 January 2021

Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation

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7 January 2021

Functional Characterization of aGJA1Frameshift Mutation Causing Oculodentodigital Dysplasia and Palmoplantar Keratoderma

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7 January 2021

A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein

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7 January 2021

Are desmosomes more than tethers for intermediate filaments?

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7 January 2021

Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus

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7 January 2021

Claudin-1 gene mutations in neonatal sclerosing cholangitis associated with ichthyosis: a tight junction disease

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7 January 2021

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

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7 January 2021

Plakophilins: Multifunctional proteins or just regulators of desmosomal adhesion?

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7 January 2021

A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350)

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700727

7 January 2021

Cell type-specific desmosomal plaque proteins of the plakoglobin family: plakophilin 1 (band 6 protein)

1 reference

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7 January 2021

Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma

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7 January 2021

A missense mutation in CDH3, encoding P-cadherin, causes hypotrichosis with juvenile macular dystrophy

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7 January 2021

Novel CDH3 mutations in hypotrichosis with juvenile macular dystrophy

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7 January 2021

Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy

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7 January 2021

Molecular basis of hypotrichosis with juvenile macular dystrophy in two siblings.

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7 January 2021

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

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7 January 2021

GJB2mutations in keratitis-ichthyosis-deafness syndrome including its fatal form

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7 January 2021

Recurrent intragenic deletion mutation in desmoglein 4 gene underlies autosomal recessive hypotrichosis in two Pakistani families of Balochi and Sindhi origins

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7 January 2021

Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa

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7 January 2021

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

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7 January 2021

Diffuse nonepidermolytic palmoplantar keratoderma caused by a recurrent nonsense mutation in DSG1.

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7 January 2021

Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome)

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7 January 2021

Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris

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7 January 2021

A nonsense mutation in the desmoglein 1 gene underlies striate keratoderma

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7 January 2021

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

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7 January 2021

Mutations in GJB6 cause hidrotic ectodermal dysplasia

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700727

7 January 2021

Sensorineural hearing loss, striate palmoplantar hyperkeratosis, and knuckle pads in a patient with a novel connexin 26 (GJB2) mutation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700727

7 January 2021

Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin

1 reference

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7 January 2021

Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness

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7 January 2021

Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment

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7 January 2021

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

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7 January 2021

Connexin46 mutations in autosomal dominant congenital cataract

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7 January 2021

Arrhythmogenic right ventricular cardiomyopathy: moving toward mechanism

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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/10.1038%2FSJ.JID.5700727

7 January 2021

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

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https://api.crossref.org/works/10.1038%2FSJ.JID.5700727

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700727

7 January 2021

Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease).

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700727

7 January 2021

A missense mutation in the cadherin interaction site of the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis

1 reference

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7 January 2021

Focal Palmoplantar Keratoderma Caused by an Autosomal Dominant Inherited Mutation in the Desmoglein 1 Gene

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7 January 2021

A novel connexin 26 gene mutation associated with features of the keratitis-ichthyosis-deafness syndrome and the follicular occlusion triad

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https://api.crossref.org/works/10.1038%2FSJ.JID.5700727

7 January 2021

A new, recurrent mutation of GJB3 (Cx31) in erythrokeratodermia variabilis

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https://api.crossref.org/works/10.1038%2FSJ.JID.5700727

7 January 2021

A recurrent intragenic deletion in the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700727

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700727

7 January 2021

Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin

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7 January 2021

Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700727

7 January 2021

GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation

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7 January 2021

Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia

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https://api.crossref.org/works/10.1038%2FSJ.JID.5700727

7 January 2021

Advances in the diagnostic management of arrhythmogenic right ventricular dysplasia-cardiomyopathy

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7 January 2021

Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700727

7 January 2021

Structure of the amino terminus of a gap junction protein

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700727

7 January 2021

A recurrent intragenic deletion mutation in DSG4 gene in three Pakistani families with autosomal recessive hypotrichosis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700727

7 January 2021

Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700727

7 January 2021

Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700727

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700727

7 January 2021

The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700727

7 January 2021

Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700727

7 January 2021

Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700727

7 January 2021

Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700727

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/10.1038%2FSJ.JID.5700727

7 January 2021

Molecular analysis of voltage dependence of heterotypic gap junctions formed by connexins 26 and 32

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700727

7 January 2021

Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700727

7 January 2021

Plakophilins 1a and 1b: widespread nuclear proteins recruited in specific epithelial cells as desmosomal plaque components

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700727

7 January 2021

Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700727

7 January 2021

Mutations in the desmoglein 4 gene are associated with monilethrix-like congenital hypotrichosis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700727

7 January 2021

Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700727

7 January 2021

Defining the interactions between intermediate filaments and desmosomes

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https://api.crossref.org/works/10.1038%2FSJ.JID.5700727

7 January 2021

A novel connexin 30 mutation in Clouston syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700727

7 January 2021

Lack of plakophilin 1 increases keratinocyte migration and reduces desmosome stability

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700727

7 January 2021

Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700727

7 January 2021

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

https://api.crossref.org/works/10.1038%2FSJ.JID.5700727

7 January 2021

Cryptic splicing at a non-consensus splice-donor in a patient with a novel mutation in the plakophilin-1 gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700727

7 January 2021

Clinical expression of plakophilin-2 mutations in familial arrhythmogenic right ventricular cardiomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700727

7 January 2021

A novel recessive connexin 31 (GJB3) mutation in a case of erythrokeratodermia variabilis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700727

7 January 2021

Right ventricular cardiomyopathy and sudden death in young people

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700727

7 January 2021

The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700727

7 January 2021

Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700727

7 January 2021

HID and KID syndromes are associated with the same connexin 26 mutation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700727

7 January 2021

Clouston Syndrome Can Mimic Pachyonychia Congenita

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700727

7 January 2021

A phenotype resembling the Clouston syndrome with deafness is associated with a novel missense GJB2 mutation.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700727

7 January 2021

Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700727

7 January 2021

Actin dynamics and cell-cell adhesion in epithelia

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700727

7 January 2021

Opposite voltage gating polarities of two closely related connexins

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700727

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700727

7 January 2021

Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700727

7 January 2021

Genomic amplification of the human plakophilin 1 gene and detection of a new mutation in ectodermal dysplasia/skin fragility syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700727

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700727

7 January 2021

Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700727

7 January 2021

Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700727

7 January 2021

Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700727

7 January 2021

Compound heterozygosity for new splice site mutations in the plakophilin 1 gene (PKP1) in a Chinese case of ectodermal dysplasia-skin fragility syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700727

7 January 2021

An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.JID.5700727

7 January 2021