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Loss‐of‐function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype

British journal of dermatology (1951), 2019-05, Vol.180 (5), p.1114-1122

2019

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Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

Nature (London), 1997-05, Vol.387 (6628), p.80-83

1997

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Early inflammation precedes cardiac fibrosis and heart failure in desmoglein 2 murine model of arrhythmogenic cardiomyopathy

Cell and tissue research, 2021-10, Vol.386 (1), p.79-98

2021

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

British journal of dermatology (1951), 2007-05, Vol.156 (5), p.1015-1019

2007

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A profile of lipid dysregulation in harlequin ichthyosis

British journal of dermatology (1951), 2017-11, Vol.177 (5), p.e217-e219

2017

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A novel homozygous nonsense mutation in CAST associated with PLACK syndrome

Cell and tissue research, 2019-11, Vol.378 (2), p.267-277

2019

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Cardiomyopathy diagnosed in the eldest child harbouring p.S24X mutation in JUP

British journal of dermatology (1951), 2016-09, Vol.175 (3), p.644-646

2016

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A severe collodion phenotype in the newborn period associated with a homozygous missense mutation in ALOX12B

British journal of dermatology (1951), 2015-07, Vol.173 (1), p.285-287

2015

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Acral peeling skin syndrome associated with a novel CSTA gene mutation

Clinical and experimental dermatology, 2016-06, Vol.41 (4), p.394-398

2016

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Cover image: Unpeeling the layers of harlequin ichthyosis

British journal of dermatology (1951), 2016-05, Vol.174 (5), p.1160-1161

2016

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Recessive oligodontia linked to a homozygous loss-of-function mutation in the SMOC2 gene

Archives of oral biology, 2013-05, Vol.58 (5), p.462-466

2013

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Multiple Epidermal Connexins are Expressed in Different Keratinocyte Subpopulations Including Connexin 31

Journal of investigative dermatology, 2001-10, Vol.117 (4), p.958-964

2001

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Noonan syndrome with multiple lentigines and associated craniosynostosis

Clinical and experimental dermatology, 2018-04, Vol.43 (3), p.357-359

2018

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A novel hearing loss-related mutation occurring in the GJB2 basal promoter

Journal of medical genetics, 2007-11, Vol.44 (11), p.721-725

2007

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Plectin deficiency results in muscular dystrophy with epidermolysis bullosa

Nature genetics, 1996-08, Vol.13 (4), p.450-457

1996

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Absence of BRAF gene mutations in uveal melanomas in contrast to cutaneous melanomas

British journal of cancer, 2003-05, Vol.88 (9), p.1403-1405

2003

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

Journal of medical genetics, 2006-02, Vol.43 (2), p.e05-e05

2006

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Further evidence for heterozygote advantage of GJB2 deafness mutations: a link with cell survival

Journal of medical genetics, 2004-07, Vol.41 (7), p.573-575

2004

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Human diseases: clues to cracking the connexin code?

Trends in cell biology, 2001, Vol.11 (1), p.2-6

2001

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099 Palmar hyperlinearity patterns and fractional exhaled nitric oxide identify atopic eczema more effectively than filaggrin variant status

Journal of investigative dermatology, 2022-12, Vol.142 (12), p.S197-S197

2022

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

Human molecular genetics, 2000-11, Vol.9 (18), p.2761-2766

2000

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A novel M163L mutation in connexin 26 causing cell death and associated with autosomal dominant hearing loss

Hearing research, 2008-06, Vol.240 (1), p.87-92

2008

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A novel ABCA12 mutation underlying a case of Harlequin ichthyosis

British journal of dermatology (1951), 2006-07, Vol.155 (1), p.204-206

2006

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188 CD44 functions as a novel interacting partner of Aquaporin 5 in keratinocytes

Journal of investigative dermatology, 2022-12, Vol.142 (12), p.S212-S212

2022

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Loss‐of‐function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

Early inflammation precedes cardiac fibrosis and heart failure in desmoglein 2 murine model of arrhythmogenic cardiomyopathy

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

A profile of lipid dysregulation in harlequin ichthyosis

A novel homozygous nonsense mutation in CAST associated with PLACK syndrome

Cardiomyopathy diagnosed in the eldest child harbouring p.S24X mutation in JUP

A severe collodion phenotype in the newborn period associated with a homozygous missense mutation in ALOX12B

Acral peeling skin syndrome associated with a novel CSTA gene mutation

Cover image: Unpeeling the layers of harlequin ichthyosis

Recessive oligodontia linked to a homozygous loss-of-function mutation in the SMOC2 gene

Multiple Epidermal Connexins are Expressed in Different Keratinocyte Subpopulations Including Connexin 31

Noonan syndrome with multiple lentigines and associated craniosynostosis

A novel hearing loss-related mutation occurring in the GJB2 basal promoter

Plectin deficiency results in muscular dystrophy with epidermolysis bullosa

Absence of BRAF gene mutations in uveal melanomas in contrast to cutaneous melanomas

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

Further evidence for heterozygote advantage of GJB2 deafness mutations: a link with cell survival

Human diseases: clues to cracking the connexin code?

099 Palmar hyperlinearity patterns and fractional exhaled nitric oxide identify atopic eczema more effectively than filaggrin variant status

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

Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency

A novel M163L mutation in connexin 26 causing cell death and associated with autosomal dominant hearing loss

A novel ABCA12 mutation underlying a case of Harlequin ichthyosis

188 CD44 functions as a novel interacting partner of Aquaporin 5 in keratinocytes

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