PubMed (GeneRIF) for id: 1294

Year	Number of Results
2002	5
2003	1
2004	3
2005	4
2006	6
2007	7
2008	8
2009	8
2010	9
2011	8
2012	8
2013	16
2014	10
2015	10
2016	9
2017	5
2018	11
2019	2
2020	6
2021	7
2022	6
2024	1

1

Epidermolysis Bullosa: Two rare case reports of COL7A1 and EBS-GEN SEV KRT14 variants with review of literature.

Ali FM, Zhou J, Wang M, Wang Q, Sun L, Mshenga MM, Lu H. Ali FM, et al. BMC Pediatr. 2024 Apr 5;24(1):242. doi: 10.1186/s12887-024-04715-0. BMC Pediatr. 2024. PMID: 38580989 Free PMC article. Review.

2

Analysis of COL7A1 pathogenic variants in a large cohort of dystrophic epidermolysis bullosa patients from Argentina reveals a new genotype-phenotype correlation.

Natale MI, Manzur GB, Lusso SB, Cella E, Giovo ME, Andrada R, Goitia J, Fernández MF, Della Giovanna PS, Guillamondegui MJ, Domínguez M, Gutiérrez O, Izquierdo A, Hernández Herrera H, Velázquez Perdomo LG, Mistchenko AS, Valinotto LE. Natale MI, et al. Am J Med Genet A. 2022 Nov;188(11):3153-3161. doi: 10.1002/ajmg.a.62957. Epub 2022 Aug 18. Am J Med Genet A. 2022. PMID: 35979658

3

COL7A1 G2287R mutation with two clinical phenotypes in the same family: Bullous dermolysis of the newborn and dystrophic epidermolysis bullosa pruriginosa.

Chao YC, Hong JB, Liu C, Lee MS, Lin RY. Chao YC, et al. J Dermatol. 2022 Sep;49(9):e313-e314. doi: 10.1111/1346-8138.16430. Epub 2022 May 13. J Dermatol. 2022. PMID: 35560343 No abstract available.

4

Two cases of the intermediate phenotype of recessive dystrophic epidermolysis bullosa harboring the novel COL7A1 mutation c.3570G>A.

Akasaka E, Nakano H, Sawamura D. Akasaka E, et al. J Dermatol Sci. 2022 Jun;106(3):193-195. doi: 10.1016/j.jdermsci.2022.04.009. Epub 2022 Apr 25. J Dermatol Sci. 2022. PMID: 35527172 No abstract available.

5

Novel variants in LAMA3 and COL7A1 and recurrent variant in KRT5 underlying epidermolysis bullosa in five Chinese families.

Wang R, Sun L, Habulieti X, Liu J, Guo K, Yang X, Ma D, Zhang X. Wang R, et al. Front Med. 2022 Oct;16(5):808-814. doi: 10.1007/s11684-021-0878-x. Epub 2022 Mar 21. Front Med. 2022. PMID: 35314946

6

5'RNA Trans-Splicing Repair of COL7A1 Mutant Transcripts in Epidermolysis Bullosa.

Mayr E, Ablinger M, Lettner T, Murauer EM, Guttmann-Gruber C, Piñón Hofbauer J, Hainzl S, Kaiser M, Klausegger A, Bauer JW, Koller U, Wally V. Mayr E, et al. Int J Mol Sci. 2022 Feb 2;23(3):1732. doi: 10.3390/ijms23031732. Int J Mol Sci. 2022. PMID: 35163654 Free PMC article.

7

Availability of mRNA Obtained from Peripheral Blood Mononuclear Cells for Testing Mutation Consequences in Dystrophic Epidermolysis Bullosa.

Akasaka E, Nakano H, Sawamura D. Akasaka E, et al. Int J Mol Sci. 2021 Dec 13;22(24):13369. doi: 10.3390/ijms222413369. Int J Mol Sci. 2021. PMID: 34948168 Free PMC article.

8

Dystrophic epidermolysis bullosa pruriginosa: a new case series of a rare phenotype unveils skewed Th2 immunity.

Darbord D, Hickman G, Pironon N, Barbieux C, Bonnet-des-Claustres M, Titeux M, Miskinyte S, Cordoliani F, Vignon-Pennamen MD, Amode R, Hovnanian A, Bourrat E. Darbord D, et al. J Eur Acad Dermatol Venereol. 2022 Jan;36(1):133-143. doi: 10.1111/jdv.17671. Epub 2021 Oct 15. J Eur Acad Dermatol Venereol. 2022. PMID: 34543471

9

Prognostic Value of Highly Expressed Type VII Collagen (COL7A1) in Patients With Gastric Cancer.

Oh SE, Oh MY, An JY, Lee JH, Sohn TS, Bae JM, Choi MG, Kim KM. Oh SE, et al. Pathol Oncol Res. 2021 Aug 26;27:1609860. doi: 10.3389/pore.2021.1609860. eCollection 2021. Pathol Oncol Res. 2021. PMID: 34512204 Free PMC article.

10

Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry.

Warshauer EM, Brown A, Fuentes I, Shortt J, Gignoux C, Montinaro F, Metspalu M, Youssefian L, Vahidnezhad H, Jacków J, Christiano AM, Uitto J, Fajardo-Ramírez ÓR, Salas-Alanis JC, McGrath JA, Consuegra L, Rivera C, Maier PA, Runfeldt G, Behar DM, Skorecki K, Sprecher E, Palisson F, Norris DA, Bruckner AL, Kogut I, Bilousova G, Roop DR. Warshauer EM, et al. Am J Med Genet A. 2021 Nov;185(11):3390-3400. doi: 10.1002/ajmg.a.62456. Epub 2021 Aug 26. Am J Med Genet A. 2021. PMID: 34435747 Free PMC article.

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