Concepedia

Compound Heterozygosity for Non-Sense and Mis-Sense Mutations in Desmoplakin Underlies Skin Fragility/Woolly Hair Syndrome

Neil V. Whittock, Hong Wan, Robin A.J. Eady, Susan M. Morley, Maria C. Garzón, Leonard Kristal, Patrice Hyde, W.H. Irwin McLean, Leena Pulkkinen, Juoni Uitto,

Journal of Investigative Dermatology · 2002 · 147 citations · 33 references

DOIFull text

Open access

Concepts

References

33

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

Godfrina McKoy, Nikos Protonotarios, Andrew H. Crosby et al. · The Lancet · 2000 · 1.1K citations

, , +15

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

Elizabeth E. Norgett · Human Molecular Genetics · 2000 · 809 citations · Full text

, , +16

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

John A. McGrath, James R. McMillan, Carrie S. Shemanko et al. · Nature Genetics · 1997 · 374 citations

, , +14

Desmoplakin Is Required Early in Development for Assembly of Desmosomes and Cytoskeletal Linkage

G. Ian Gallicano, Panos Kouklis, Christoph Bauer et al. · The Journal of Cell Biology · 1998 · 336 citations · Full text

, , +16

WNT Signaling in the Control of Hair Growth and Structure

Sarah E. Millar, Karl Willert, Patricia C. Salinas et al. · Developmental Biology · 1999 · 296 citations

, , +14