These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
3. First patient with ILNEB syndrome due to pathogenic variants in ITGA3 surviving to adulthood. Alstrup M; Marks SD; Ek J; Buchvald F; Lund TK; Perch M; Waters AM; Mogensen M; Jelsig AM Eur J Med Genet; 2021 Nov; 64(11):104335. PubMed ID: 34492382 [TBL] [Abstract][Full Text] [Related]
4. Inherited epidermolysis bullosa: New diagnostics and new clinical phenotypes. Has C; Fischer J Exp Dermatol; 2019 Oct; 28(10):1146-1152. PubMed ID: 29679399 [TBL] [Abstract][Full Text] [Related]
5. Constitutional absence of epithelial integrin α3 impacts the composition of the cellular microenvironment of ILNEB keratinocytes. He Y; Thriene K; Boerries M; Hausser I; Franzke CW; Busch H; Dengjel J; Has C Matrix Biol; 2018 Dec; 74():62-76. PubMed ID: 30466509 [TBL] [Abstract][Full Text] [Related]
6. Intronic ITGA3 Mutation Impacts Splicing Regulation and Causes Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa. He Y; Balasubramanian M; Humphreys N; Waruiru C; Brauner M; Kohlhase J; O'Reilly R; Has C J Invest Dermatol; 2016 May; 136(5):1056-1059. PubMed ID: 26854491 [No Abstract] [Full Text] [Related]
7. A novel ITGA3 homozygous splice mutation in an ILNEB syndrome child with slow progression. Liu Y; Yue Z; Wang H; Li M; Wu X; Lin H; Han W; Lan S; Sun L Clin Chim Acta; 2021 Dec; 523():430-436. PubMed ID: 34751145 [TBL] [Abstract][Full Text] [Related]
14. Rapid decay of alpha6 integrin caused by a mis-sense mutation in the propeller domain results in severe junctional epidermolysis bullosa with pyloric atresia. Allegra M; Gagnoux-Palacios L; Gache Y; Roques S; Lestringant G; Ortonne JP; Meneguzzi G J Invest Dermatol; 2003 Dec; 121(6):1336-43. PubMed ID: 14675179 [TBL] [Abstract][Full Text] [Related]
15. Ophthalmologic Approach in Epidermolysis Bullosa: A Cross-Sectional Study With Phenotype-Genotype Correlations. Mellado F; Fuentes I; Palisson F; I Vergara J; Kantor A Cornea; 2018 Apr; 37(4):442-447. PubMed ID: 29384803 [TBL] [Abstract][Full Text] [Related]
16. Crucial role of posttranslational modifications of integrin α3 in interstitial lung disease and nephrotic syndrome. Yalcin EG; He Y; Orhan D; Pazzagli C; Emiralioglu N; Has C Hum Mol Genet; 2015 Jul; 24(13):3679-88. PubMed ID: 25810266 [TBL] [Abstract][Full Text] [Related]
17. Epidermolysis bullosa letalis in two brothers. Esterly NB; Hruby MA Birth Defects Orig Artic Ser; 1974; 10(10):154-7. PubMed ID: 4462628 [No Abstract] [Full Text] [Related]
18. Compound heterozygosity for missense (L156P) and nonsense (R554X) mutations in the beta4 integrin gene (ITGB4) underlies mild, nonlethal phenotype of epidermolysis bullosa with pyloric atresia. Pulkkinen L; Bruckner-Tuderman L; August C; Uitto J Am J Pathol; 1998 Apr; 152(4):935-41. PubMed ID: 9546354 [TBL] [Abstract][Full Text] [Related]
19. Epidermolysis bullosa pruriginosa with marked phenotypic heterogeneity caused by a recurrent glycine substitution: Incomplete penetrance or a latent case? Takiyoshi N; Nakano H; Sawamura D J Dermatol; 2012 Aug; 39(8):718-9. PubMed ID: 22011140 [No Abstract] [Full Text] [Related]
20. ITGB4 missense mutation in a transmembrane domain causes non-lethal variant of junctional epidermolysis bullosa with pyloric atresia. Abe M; Sawamura D; Goto M; Nakamura H; Nagasaki A; Nomura Y; Kawasaki H; Isogai R; Shimizu H J Dermatol Sci; 2007 Aug; 47(2):165-7. PubMed ID: 17512702 [No Abstract] [Full Text] [Related] [Next] [New Search]