ArticleProceedings of the National Academy of Sciences of the United States of America1996
The genetic basis of epidermolysis bullosa simplex with mottled pigmentation.
Article in Proceedings of the National Academy of Sciences of the United States of America, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 179 citations in OpenAlex.
- Epidermolysis Bullosa Simplex with Mottled Pigmentation and Migratory Circinate Erythema: Distinct Subtypes or a Continuum?Acta dermato-venereologica · 2025Article
- Mitochondrial calcium uptake orchestrates vertebrate pigmentation via transcriptional regulation of keratin filaments.PLoS biology · 2024Article
- The chromosome-scale genome assembly of the yellowtail clownfish Amphiprion clarkii provides insights into the melanic pigmentation of anemonefish.G3 (Bethesda, Md.) · 2023Article
- Keratin Biomaterials in Skin Wound Healing, an Old Player in Modern Medicine: A Mini Review.Pharmaceutics · 2021Review
- Epigenetic and metabolic regulation of epidermal homeostasis.Experimental dermatology · 2021Review
- Keratin 14-dependent disulfides regulate epidermal homeostasis and barrier function via 14-3-3σ and YAP1.eLife · 2020Article
- Type III Intermediate Filaments Desmin, Glial Fibrillary Acidic Protein (GFAP), Vimentin, and Peripherin.Cold Spring Harbor perspectives in biology · 2017Review
- Review
- Vimentin is involved in regulation of mitochondrial motility and membrane potential by Rac1.Biology open · 2015Article
- Mitochondrial membrane potential is regulated by vimentin intermediate filaments.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2015Article
- The First Report of KRT5 Mutation Underlying Acantholytic Dowling-Degos Disease with Mottled Hypopigmentation in an Indian Family.Indian journal of dermatology · 2014Article
- Heterozygous frameshift mutation in keratin 5 in a family with Galli-Galli disease.The British journal of dermatology · 2014Article
- Defining keratin protein function in skin epithelia: epidermolysis bullosa simplex and its aftermath.The Journal of investigative dermatology · 2012Review
- Vimentin intermediate filaments modulate the motility of mitochondria.Molecular biology of the cell · 2011Article
- Mitochondrial reactive oxygen species are required for hypoxia-induced degradation of keratin intermediate filaments.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2010Article
- Epidermolysis bullosa simplex: a paradigm for disorders of tissue fragility.The Journal of clinical investigation · 2009Review
- The molecular basis of human keratin disorders.Human genetics · 2009Review
- Plectin isoform 1b mediates mitochondrion-intermediate filament network linkage and controls organelle shape.The Journal of cell biology · 2008Article
- Identifying the role of specific motifs in the lens fiber cell specific intermediate filament phakosin.Investigative ophthalmology & visual science · 2007Article
- Diseases of epidermal keratins and their linker proteins.Experimental cell research · 2007Review
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
Epidermolysis bullosa simplex (EBS) is a group of autosomal dominant skin diseases characterized by blistering, due to mechanical stress-induced degeneration of basal epidermal cells. It is now well-established that the three major subtypes of EBS are genetic disorders of the basal epidermal keratins, keratin 5 (K5) and keratin 14 (K14). Here we show that a rare subtype, referred to as EBS with mottled pigmentation (MP), is also a disorder of these keratins. Affected members of two seemingly unrelated families with EBS-MP had a C to T point mutation in the second base position of codon 24 of one of two K5 alleles, leading to a Pro: Leu mutation. This mutation was not present in unaffected members nor in 100 alleles from normal individuals. Linkage analyses mapped the defect to this type II keratin gene (peak logarithm of odds score at phi = 0 of 3.9), which is located on chromosome 12q11-q13. This provides strong evidence that this mutation is responsible for the EBS-MP phenotype. Only conserved between K5 and K6, and not among any of the other type II keratins, Pro-24 is in the nonhelical head domain of K5, and only mildly perturbs the length of 10-nm keratin filaments assembled in vitro. However, this part of the K5 head domain is likely to protrude on the filament surface, perhaps leading to additional aberrations in intermediate filament architecture and/or in melanosome distribution that are seen ultrastructurally in patients with the mutation.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.