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25. Left ventricular non-compaction cardiomyopathy associated with epidermolysis bullosa simplex with muscular dystrophy and PLEC1 mutation. Villa CR; Ryan TD; Collins JJ; Taylor MD; Lucky AW; Jefferies JL Neuromuscul Disord; 2015 Feb; 25(2):165-8. PubMed ID: 25454730 [TBL] [Abstract][Full Text] [Related]
26. Downstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophy. Winter L; Türk M; Harter PN; Mittelbronn M; Kornblum C; Norwood F; Jungbluth H; Thiel CT; Schlötzer-Schrehardt U; Schröder R Acta Neuropathol Commun; 2016 Apr; 4(1):44. PubMed ID: 27121971 [TBL] [Abstract][Full Text] [Related]
27. Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex. Gostyńska KB; Nijenhuis M; Lemmink H; Pas HH; Pasmooij AM; Lang KK; Castañón MJ; Wiche G; Jonkman MF Hum Mol Genet; 2015 Jun; 24(11):3155-62. PubMed ID: 25712130 [TBL] [Abstract][Full Text] [Related]
28. A compound heterozygous one amino-acid insertion/nonsense mutation in the plectin gene causes epidermolysis bullosa simplex with plectin deficiency. Bauer JW; Rouan F; Kofler B; Rezniczek GA; Kornacker I; Muss W; Hametner R; Klausegger A; Huber A; Pohla-Gubo G; Wiche G; Uitto J; Hintner H Am J Pathol; 2001 Feb; 158(2):617-25. PubMed ID: 11159198 [TBL] [Abstract][Full Text] [Related]
29. Plectin gene defects lead to various forms of epidermolysis bullosa simplex. Rezniczek GA; Walko G; Wiche G Dermatol Clin; 2010 Jan; 28(1):33-41. PubMed ID: 19945614 [TBL] [Abstract][Full Text] [Related]
31. Cultured keratinocytes from plectin/HD1-deficient epidermolysis bullosa simplex showed altered ability of adhesion to the matrix. Kurose K; Mori O; Hachisuka H; Shimizu H; Owaribe K; Hashimoto T J Dermatol Sci; 2000 Dec; 24(3):184-9. PubMed ID: 11084300 [TBL] [Abstract][Full Text] [Related]
32. Evaluation of Systemic Gentamicin as Translational Readthrough Therapy for a Patient With Epidermolysis Bullosa Simplex With Muscular Dystrophy Owing to PLEC1 Pathogenic Nonsense Variants. Martínez-Santamaría L; Maseda R; de Arriba MDC; Membrilla JA; Sigüenza AI; Mascías J; García M; Quintana L; Esteban-Rodríguez I; Hernández-Fernández CP; Illera N; Duarte B; Guerrero-Aspizúa S; Woodley DT; Del Río M; de Lucas R; Larcher F; Escámez MJ JAMA Dermatol; 2022 Apr; 158(4):439-443. PubMed ID: 35234827 [TBL] [Abstract][Full Text] [Related]
33. A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex. Groves RW; Liu L; Dopping-Hepenstal PJ; Markus HS; Lovell PA; Ozoemena L; Lai-Cheong JE; Gawler J; Owaribe K; Hashimoto T; Mellerio JE; Mee JB; McGrath JA J Invest Dermatol; 2010 Jun; 130(6):1551-7. PubMed ID: 20164846 [TBL] [Abstract][Full Text] [Related]
34. [Epidermolysis bullosa simplex with progressive muscular dystrophy due to plectin deficiency]. Schuur J; De Weerdt CJ Ned Tijdschr Geneeskd; 2000 Aug; 144(32):1565-6. PubMed ID: 10979819 [No Abstract] [Full Text] [Related]
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38. The many faces of plectin and plectinopathies: pathology and mechanisms. Winter L; Wiche G Acta Neuropathol; 2013 Jan; 125(1):77-93. PubMed ID: 22864774 [TBL] [Abstract][Full Text] [Related]
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40. A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report. Argyropoulou Z; Liu L; Ozoemena L; Branco CC; Senra R; Reis-Rego Â; Mota-Vieira L BMC Dermatol; 2018 Jan; 18(1):1. PubMed ID: 29352809 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]