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Genetic Insights Into Epidermolysis Bullosa: Identification of Novel Variants in Tunisian Patients.
Am J Med Genet A
December 2024
Laboratory of Human Cytogenetics, Molecular Genetics, and Reproductive Biology, Farhat Hached University Hospital, University of Sousse, Sousse, Tunisia.
Epidermolysis Bullosa (EB) is a group of genetic skin disorders characterized by extreme skin fragility and blistering. In North African countries, including Tunisia, complex genetic and phenotypic diversity is entangled with a scarcity of scientific research on EB. This lack of knowledge presents a distinct challenge in terms of diagnostic accuracy and patient care.
View Article and Find Full Text PDFNovel variants impairing Sp1 transcription factor binding in the COL7A1 promoter cause mild cases of recessive dystrophic epidermolysis bullosa.
Eur J Hum Genet
December 2024
Laboratory of Genetic Skin Diseases, Institut Imagine, Université Paris Cité, Inserm, UMR 1163, F-75015, Paris, France.
Recessive dystrophic epidermolysis bullosa (RDEB) is a rare and most often severe genodermatosis characterized by recurrent blistering and erosions of the skin and mucous membranes after minor trauma, leading to major local and systemic complications. RDEB is caused by loss-of-function mutations in COL7A1 encoding type VII collagen (C7), the main component of anchoring fibrils which form attachment structures stabilizing the cutaneous basement membrane zone. Most of the previously reported COL7A1 mutations are located in the coding or intronic regions.
View Article and Find Full Text PDFClinical and Genetic Findings in Patients With Palmoplantar Keratoderma.
JAMA Dermatol
December 2024
Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Article Synopsis
- Palmoplantar keratoderma is a complex skin condition with diverse clinical presentations and genetic factors, making diagnosis challenging and sparking the need for comprehensive genetic testing.
- This study collected data from 142 patients over several years to understand the different types and genetic causes of palmoplantar keratoderma by examining clinical features and performing genetic sequencing.
- Results revealed that a significant proportion (83%) of families had identifiable genetic variants, with the most common variant linked to the AAGAB gene, affecting the majority of participants who presented with a punctate subtype of the condition.
Novel readthrough agent suppresses nonsense mutations and restores functional type VII collagen and laminin 332 in epidermolysis bullosa.
Mol Ther Nucleic Acids
December 2024
Department of Dermatology, The Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA.
Recessive dystrophic epidermolysis bullosa (RDEB) and junctional epidermolysis bullosa (JEB) are lethal blistering skin disorders resulting from mutations in genes coding for type VII collagen () and laminin 332 (, , or ), respectively. In RDEB, 25% of patients harbor nonsense mutations causing premature termination codons (PTCs). In JEB, a majority of mutations in are nonsense mutations (80%).
View Article and Find Full Text PDFAutosomal recessive type of dystrophic epidermolysis bullosa with a novel variant in the COL7A1 gene.
Biomed Rep
November 2024
Department of Dermatology, Venereology and Allergology, Medical University-Pleven, 'Dr Georgi Stranski' University Hospital, 5800 Pleven, Bulgaria.
Epidermolysis bullosa (EB) is an inherited skin condition whose hallmark is skin fragility caused by minimal trauma or friction. The dystrophic type of EB (DEB), accounting for 30% of all cases, is caused by mutations in the gene encoding type VII collagen α1 chain (). It is inherited in an autosomal-dominant or autosomal-recessive manner.
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