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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1981 1
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1991 4
1992 3
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1994 5
1995 2
1996 5
1997 7
1998 8
1999 4
2000 2
2001 5
2002 2
2003 3
2004 3
2005 3
2006 2
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2010 4
2011 3
2012 4
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108 results

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Page 1
Epidermolysis Bullosa: Pediatric Perspectives.
Hon KL, Chu S, Leung AKC. Hon KL, et al. Curr Pediatr Rev. 2022;18(3):182-190. doi: 10.2174/1573396317666210525161252. Curr Pediatr Rev. 2022. PMID: 34036913 Review.
We reviewed EB based on the following subheadings: epidemiology, diagnosis, therapy, prognosis, and clinical prediction guidelines. EB is due to mutation in a number of genes, some types are autosomal dominant while others are autosomal recessive. ...There are four main ty …
We reviewed EB based on the following subheadings: epidemiology, diagnosis, therapy, prognosis, and clinical prediction guidelines. E …
Autoimmunity against laminin 332.
Patzelt S, Schmidt E. Patzelt S, et al. Front Immunol. 2023 Aug 10;14:1250115. doi: 10.3389/fimmu.2023.1250115. eCollection 2023. Front Immunol. 2023. PMID: 37638011 Free PMC article. Review.
The importance of laminin 332 for the structural integrity of the BMZ is demonstrated by mutations in any of the three genes encoding for its three chains causing variants of junctional epidermolysis bullosa. Autoimmunity against laminin 332 is observed …
The importance of laminin 332 for the structural integrity of the BMZ is demonstrated by mutations in any of the three genes encoding for it …
Pathogenesis of mechanobullous disorders.
Bruckner-Tuderman L. Bruckner-Tuderman L. Exp Dermatol. 1992 Oct;1(3):115-20. doi: 10.1111/j.1600-0625.1992.tb00001.x. Exp Dermatol. 1992. PMID: 1365310 Review.
Genetic linkage was established between the collagen VII gene and both dominant and recessive subtypes of dystrophic epidermolysis bullosa, and different molecular abnormalities of collagen VII leading to formation of non-functional, rudimentary anchoring fibrils were observed …
Genetic linkage was established between the collagen VII gene and both dominant and recessive subtypes of dystrophic epidermolysis bullosa, …
Independent COL17A1 Variants in Cats with Junctional Epidermolysis Bullosa.
Kiener S, Troyer H, Ruvolo D, Grest P, Soto S, Letko A, Jagannathan V, Leeb T, Mauldin EA, Yang C, Rostaher A. Kiener S, et al. Genes (Basel). 2023 Sep 22;14(10):1835. doi: 10.3390/genes14101835. Genes (Basel). 2023. PMID: 37895184 Free PMC article.
Whole genome sequencing of both affected cats revealed independent homozygous variants in COL17A1 encoding the collagen type XVII alpha 1 chain. Loss of function variants in COL17A1 lead to junctional epidermolysis bullosa (JEB) in human patients. The identif …
Whole genome sequencing of both affected cats revealed independent homozygous variants in COL17A1 encoding the collagen type XVII alpha 1 ch …
Phenotypic variability in LAMA3-associated amelogenesis imperfecta.
Wang SK, Zhang H, Wang YL, Seymen F, Koruyucu M, Simmer JP, Hu JC. Wang SK, et al. Oral Dis. 2023 Nov;29(8):3514-3524. doi: 10.1111/odi.14425. Epub 2022 Nov 16. Oral Dis. 2023. PMID: 36326426 Free PMC article.
Horizonal bands of hypoplastic enamel with chalky-white discoloration and enamel hypomineralization were also observed and demonstrated by muCT analyses of affected teeth. Four disease-causing LAMA3 mutations (NM_198129.4:c.3712dup; c.5891dup; c.7367del; c.9400G > C) we …
Horizonal bands of hypoplastic enamel with chalky-white discoloration and enamel hypomineralization were also observed and demonstrat …
Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa.
Bergson S, Daniely D, Bomze D, Mohamad J, Malovitski K, Meijers O, Briskin V, Bihari O, Malchin N, Israeli S, Mashiah J, Falik-Zaccai T, Avitan-Hersh E, Eskin-Schwartz M, Allon-Shalev S, Sarig O, Sprecher E, Samuelov L. Bergson S, et al. Pediatr Dermatol. 2023 Nov-Dec;40(6):1021-1027. doi: 10.1111/pde.15440. Epub 2023 Oct 12. Pediatr Dermatol. 2023. PMID: 37827535

Abnormal nails were evident in most DEB and JEB patients while poikiloderma was exclusively observed in KEB (p < .001). CONCLUSIONS: EB patients of Middle Eastern origin were found to feature specific phenotype-genotype correlations of relevance to the diagnosis and gen

…

Abnormal nails were evident in most DEB and JEB patients while poikiloderma was exclusively observed in KEB (p < .001). CONCLUSION

…
Molecular and Clinical Outcomes After Intravenous Gentamicin Treatment for Patients With Junctional Epidermolysis Bullosa Caused by Nonsense Variants.
Mosallaei D, Hao M, Antaya RJ, Levian B, Kwong A, Cogan J, Hamilton C, Schwieger-Briel A, Tan C, Tang X, Woodley DT, Chen M. Mosallaei D, et al. JAMA Dermatol. 2022 Apr 1;158(4):366-374. doi: 10.1001/jamadermatol.2021.5992. JAMA Dermatol. 2022. PMID: 35234826 Free PMC article. Clinical Trial.
IMPORTANCE: Junctional epidermolysis bullosa (JEB) is an incurable blistering skin disorder with high infant mortality often caused by nonsense variants in the genes that encode laminin 332. ...All 3 patients who were evaluated with EBDASI showed a decrease i …
IMPORTANCE: Junctional epidermolysis bullosa (JEB) is an incurable blistering skin disorder with high infant mortality …
Genotype-Phenotype Correlation in Junctional Epidermolysis Bullosa: Signposts to Severity.
Wen D, Hunjan M, Bardhan A, Harper N, Ogboli M, Ozoemena L, Liu L, Fine JD, Chapple I, Balacco DL, Heagerty A. Wen D, et al. J Invest Dermatol. 2024 Jun;144(6):1334-1343.e14. doi: 10.1016/j.jid.2023.11.021. Epub 2023 Dec 28. J Invest Dermatol. 2024. PMID: 38157931 Free article.
Junctional epidermolysis bullosa (JEB) is a rare autosomal recessive genodermatosis with a broad spectrum of phenotypes. ...Splice site variants underwent analysis with SpliceAI, a state-of-the-art artificial intelligence tool, to predict resultant tra …
Junctional epidermolysis bullosa (JEB) is a rare autosomal recessive genodermatosis with a broad spectrum of phenotypes …
What's new in dermatology: epidermal stem cells.
Charruyer A, Ghadially R. Charruyer A, et al. G Ital Dermatol Venereol. 2011 Feb;146(1):57-67. G Ital Dermatol Venereol. 2011. PMID: 21317858 Review.
Advances in the clinic include recognition of the importance of stem cells for wound repair and for gene therapy and promising results have been obtained in a patient with junctional epidermolysis bullosa over a 12 month period of observation. ...
Advances in the clinic include recognition of the importance of stem cells for wound repair and for gene therapy and promising results have …
The epidemiology of epidermolysis bullosa in England and Wales: data from the national epidermolysis bullosa database.
Petrof G, Papanikolaou M, Martinez AE, Mellerio JE, McGrath JA, Bardhan A, Harper N, Heagerty A, Ogboli M, Chiswell C, Moss C. Petrof G, et al. Br J Dermatol. 2022 May;186(5):843-848. doi: 10.1111/bjd.20958. Epub 2022 Mar 31. Br J Dermatol. 2022. PMID: 34927719
Birth rates fell progressively over the 19-year period for JEB-severe (JEB-S) (r = -0.56) and recessive DEB-severe (r = -0.44) and also for milder types of EB. We observed longer survival in JEB-S over the 19-year period (r(2) = 0.18) with a median survival of 12.7 months …
Birth rates fell progressively over the 19-year period for JEB-severe (JEB-S) (r = -0.56) and recessive DEB-severe (r = -0.44) and also for …
108 results