Loss of Kindlin-1, a Human Homolog of the Caenorhabditis elegans Actin–Extracellular-Matrix Linker Protein UNC-112, Causes Kindler Syndrome

Dawn H. Siegel, G H S Ashton, Homero Penagos, +39

The American Journal of Human Genetics

Causes Kindler SyndromeGenetic DisorderGeneticsProtein GeneticsMolecular Genetics +6

Autoantibodies to extracellular matrix protein 1 in lichen sclerosus

Noritaka Oyama, Ien Chan, S. M. Neill, +8

The Lancet

Autoimmune DiseaseAutoantibody ProductionSystemic SclerodermaImmunologyHistopathology +7

Extracellular Matrix Protein 1 Gene (ECM1) Mutations in Lipoid Proteinosis and Genotype-Phenotype Correlation

Takahiro Hamada, Vesarat Wessagowit, Andrew P. South, +18

Journal of Investigative Dermatology

GeneticsExtracellular MatrixLipoid ProteinosisMedicineCell Biology +1

Lack of plakophilin 1 increases keratinocyte migration and reduces desmosome stability

Andrew P. South, Hong Wan, M G Stone, +7

Journal of Cell Science

DermatologyCellular PhysiologyCell DevelopmentExperimental DermatologyCell Signaling +14

Alterations in Desmosome Size and Number Coincide with the Loss of Keratinocyte Cohesion in Skin with Homozygous and Heterozygous Defects in the Desmosomal Protein Plakophilin 1

James R. McMillan, Masashi Akiyama, Hiroshi Shimizu, +5

Journal of Investigative Dermatology

Cutaneous BiologyMolecular BiologyCytoskeletonDesmosome SizeDermatology +6

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

Hong Wan, Patricia J.C. Dopping-Hepenstal, Matthew J. Gratian, +9

British Journal of Dermatology

Mutations in GRHL2 Result in an Autosomal-Recessive Ectodermal Dysplasia Syndrome

Gabriela Petrof, Arti Nanda, Jake Davey Howden, +15

The American Journal of Human Genetics

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

Takahiro Hamada, Andrew P. South, Yoshihiko Mitsuhashi, +8

Experimental Dermatology

Loss-of-Function FERMT1 Mutations in Kindler Syndrome Implicate a Role for Fermitin Family Homolog-1 in Integrin Activation

Joey E. Lai‐Cheong, Maddy Parsons, Akio Tanaka, +10

American Journal Of Pathology

GeneticsPathogenesisFermitin Family Homolog-1Molecular BiologyMolecular Genetics +3

Reduced Expression of Insulin-Like Growth Factor-Binding Protein-3 (IGFBP-3) in Squamous Cell Carcinoma Complicating Recessive Dystrophic Epidermolysis Bullosa

Rajeev Mallipeddi, Vesarat Wessagowit, Andrew P. South, +4

Journal of Investigative Dermatology

Tumor BiologyMedicinePathologyDermatologyCancer Biology +4