(Q38107003)

29 August 2017

title

Overview of skin diseases linked to connexin gene mutations (English)

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29 August 2017

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Lyubov Avshalumova

1

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29 August 2017

Jordan Fabrikant

series ordinal

2

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29 August 2017

Angie Koriakos

series ordinal

3

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29 August 2017

publication date

15 May 2013

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International Journal of Dermatology

29 August 2017

published in

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29 August 2017

volume

53

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29 August 2017

issue

2

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29 August 2017

page(s)

192-205

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Gap junction diseases of the skin

29 August 2017

cites work

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Connexin-26 mutations in deafness and skin disease.

21 January 2018

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Expression profiles of the novel human connexin genes hCx30.2, hCx40.1, and hCx62 differ from their putative mouse orthologues

21 January 2018

1 reference

Closing the gap on autosomal dominant connexin-26 and connexin-43 mutants linked to human disease

21 January 2018

1 reference

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

21 January 2018

1 reference

Connections with connexins: the molecular basis of direct intercellular signaling

21 January 2018

1 reference

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

21 January 2018

1 reference

A novel connexin 26 mutation in a patient diagnosed with keratitis-ichthyosis-deafness syndrome.

21 January 2018

1 reference

A novel connexin 30 mutation in Clouston syndrome

21 January 2018

1 reference

Genetic diseases of junctions.

21 January 2018

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

21 January 2018

1 reference

Keratitis-ichthyosis-deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients.

21 January 2018

1 reference

Potassium ion recycling pathway via gap junction systems in the mammalian cochlea and its interruption in hereditary nonsyndromic deafness

21 January 2018

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Gap junction development in the human fetal hair follicle and bulge region

21 January 2018

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Molecular genetics of hearing loss

21 January 2018

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Positive selection of candidate tumor-suppressor genes by subtractive hybridization

21 January 2018

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Upregulation of connexin 26 is a feature of keratinocyte differentiation in hyperproliferative epidermis, vaginal epithelium, and buccal epithelium

21 January 2018

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Increased expression of connexins 26 and 43 in lymph node metastases of breast cancer

21 January 2018

1 reference

A report of GJB2 (N14K) Connexin 26 mutation in two patients--a new subtype of KID syndrome?

21 January 2018

1 reference

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

21 January 2018

1 reference

Keratitis, ichthyosis and deafness syndrome with development of multiple hair follicle tumours.

21 January 2018

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Keratitis, ichthyosis and deafness (KID)-syndrome: report of three cases and a review of the literature

21 January 2018

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KID syndrome: response to acitretin

21 January 2018

1 reference

Knuckle pads, leukonychia and deafness. A dominantly inherited syndrome

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Vohwinkel syndrome (mutilating keratoderma) associated with craniofacial anomalies

21 January 2018

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

21 January 2018

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Autosomal dominant palmoplantar hyperkeratosis and sensorineural deafness in three generations

21 January 2018

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Hidrotic ectodermal dysplasia: study of a large Chinese pedigree

21 January 2018

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Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping

21 January 2018

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The gene responsible for Clouston hidrotic ectodermal dysplasia maps to the pericentromeric region of chromosome 13q

21 January 2018

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Mutations in GJB6 cause hidrotic ectodermal dysplasia

21 January 2018

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Connexin30 in rodent, cat and human brain: selective expression in gray matter astrocytes, co-localization with connexin43 at gap junctions and late developmental appearance

21 January 2018

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Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30.

21 January 2018

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Clinical and genetic heterogeneity of erythrokeratoderma variabilis

21 January 2018

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Autosomal recessive inheritance of erythrokeratoderma variabilis

21 January 2018

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

21 January 2018

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Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis

21 January 2018

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Acitretin for erythrokeratodermia variabilis in a 9-year-old girl

21 January 2018

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Neurological manifestations of the oculodentodigital dysplasia syndrome

21 January 2018

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GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype

21 January 2018

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A novel GJA1 missense mutation in a Polish child with oculodentodigital dysplasia.

21 January 2018

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Life cycle of connexins in health and disease

21 January 2018

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Multiple connexins colocalize in canine ventricular myocyte gap junctions

21 January 2018

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Unique and redundant connexin contributions to lens development

21 January 2018

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ODDD-linked Cx43 mutants reduce endogenous Cx43 expression and function in osteoblasts and inhibit late stage differentiation.

21 January 2018

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Oculodentodigital dysplasia. Four new reports and a literature review

21 January 2018

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

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/IJD.12062

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29 August 2017

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