Related references
Note: Only part of the references are listed.Compound heterozygous mutations in desmoplakin cause skin fragility and woolly hair
F. J. D. Smith et al.
BRITISH JOURNAL OF DERMATOLOGY (2012)
Expanding the phenotype associated with a desmoplakin dominant mutation: Carvajal/Naxos syndrome associated with leukonychia and oligodontia
Stephane Boule et al.
INTERNATIONAL JOURNAL OF CARDIOLOGY (2012)
Cardiomyopathy with alopecia and palmoplantar keratoderma (CAPK) is caused by a JUP mutation
H. Erken et al.
BRITISH JOURNAL OF DERMATOLOGY (2011)
Novel homozygous mutation in DSP causing skin fragility-woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes
M. Al-Owain et al.
CLINICAL GENETICS (2011)
Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratoderma
Tatjana Williams et al.
CLINICAL RESEARCH IN CARDIOLOGY (2011)
Arrhythmogenic Dilated Cardiomyopathy Due to a Novel Mutation in the Desmoplakin Gene
Sriram Krishnamurthy et al.
INDIAN JOURNAL OF PEDIATRICS (2011)
A New Hypo/Oligodontia Syndrome: Carvajal/Naxos Syndrome Secondary to Desmoplakin-dominant Mutations
L. Chalabreysse et al.
JOURNAL OF DENTAL RESEARCH (2011)
Lethal acantholytic epidermolysis bullosa due to a novel homozygous deletion in DSP: expanding the phenotype and implications for desmoplakin function in skin and heart
M. C. Bolling et al.
BRITISH JOURNAL OF DERMATOLOGY (2010)
Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice
Veronique Fressart et al.
EUROPACE (2010)
Insights from a Desmoplakin Mutation Identified in Lethal Acantholytic Epidermolysis Bullosa
Ryan P. Hobbs et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2010)
Compound Heterozygous Desmoplakin Mutations Result in a Phenotype with a Combination of Myocardial, Skin, Hair, and Enamel Abnormalities
My G. Mahoney et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2010)
A method and server for predicting damaging missense mutations
Ivan A. Adzhubei et al.
NATURE METHODS (2010)
Novel truncating mutations in PKP1 and DSP cause similar skin phenotypes in two Brazilian families
A. Tanaka et al.
BRITISH JOURNAL OF DERMATOLOGY (2009)
Comprehensive Desmosome Mutation Analysis in North Americans With Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy
A. Denise den Haan et al.
CIRCULATION-CARDIOVASCULAR GENETICS (2009)
Unique epidermolytic bullous dermatosis with associated lethal cardiomyopathy related to novel desmoplakin mutations
Angeliki Asimaki et al.
JOURNAL OF CUTANEOUS PATHOLOGY (2009)
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
Prateek Kumar et al.
NATURE PROTOCOLS (2009)
Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy
Zhao Yang et al.
CIRCULATION RESEARCH (2006)
Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin
Elizabeth E. Norgett et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2006)
Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome
A Uzumcu et al.
JOURNAL OF MEDICAL GENETICS (2006)
Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa
MF Jonkman et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy
M Norman et al.
CIRCULATION (2005)
Clinical profile of four families with arrhythmogenic right ventricular cardiomyopathy caused by dominant desmoplakin mutations
B Bauce et al.
EUROPEAN HEART JOURNAL (2005)
A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair
R Alcalai et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2003)
Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy
A Rampazzo et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome
NV Whittock et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2002)
Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma
EE Norgett et al.
HUMAN MOLECULAR GENETICS (2000)