Common JEA - Search Results

1

Diphtheria toxin activates ribotoxic stress and NLRP1 inflammasome-driven pyroptosis.

Robinson KS, Toh GA, Firdaus MJ, Tham KC, Rozario P, Lim CK, Toh YX, Lau ZH, Binder SC, Mayer J, Bonnard C, Schmidt FI, Common JEA, Zhong FL. Robinson KS, et al. Among authors: common jea. J Exp Med. 2023 Oct 2;220(10):e20230105. doi: 10.1084/jem.20230105. Epub 2023 Aug 29. J Exp Med. 2023. PMID: 37642997 Free PMC article.

2

Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria.

Liu H, Li Y, Hung KK, Wang N, Wang C, Chen X, Sheng D, Fu X, See K, Foo JN, Low H, Liany H, Irwan ID, Liu J, Yang B, Chen M, Yu Y, Yu G, Niu G, You J, Zhou Y, Ma S, Wang T, Yan X, Goh BK, Common JE, Lane BE, Sun Y, Zhou G, Lu X, Wang Z, Tian H, Cao Y, Chen S, Liu Q, Liu J, Zhang F. Liu H, et al. PLoS One. 2014 Feb 3;9(2):e87250. doi: 10.1371/journal.pone.0087250. eCollection 2014. PLoS One. 2014. PMID: 24498303 Free PMC article.

3

In vivo Raman spectroscopy discriminates between FLG loss-of-function carriers vs wild-type in day 1-4 neonates.

Ní Chaoimh C, Nico C, Puppels GJ, Caspers PJ, Wong XFCC, Common JE, Irvine AD, Hourihane JO. Ní Chaoimh C, et al. Ann Allergy Asthma Immunol. 2020 May;124(5):500-504. doi: 10.1016/j.anai.2020.01.022. Epub 2020 Feb 6. Ann Allergy Asthma Immunol. 2020. PMID: 32035937

4

Functional studies of human skin disease- and deafness-associated connexin 30 mutations.

Common JE, Becker D, Di WL, Leigh IM, O'Toole EA, Kelsell DP. Common JE, et al. Biochem Biophys Res Commun. 2002 Nov 15;298(5):651-6. doi: 10.1016/s0006-291x(02)02517-2. Biochem Biophys Res Commun. 2002. PMID: 12419304

5

Clinical and genetic heterogeneity of erythrokeratoderma variabilis.

Common JE, O'Toole EA, Leigh IM, Thomas A, Griffiths WA, Venning V, Grabczynska S, Peris Z, Kansky A, Kelsell DP. Common JE, et al. J Invest Dermatol. 2005 Nov;125(5):920-7. doi: 10.1111/j.0022-202X.2005.23919.x. J Invest Dermatol. 2005. PMID: 16297190 Free article.

6

Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma.

Norgett EE, Hatsell SJ, Carvajal-Huerta L, Cabezas JC, Common J, Purkis PE, Whittock N, Leigh IM, Stevens HP, Kelsell DP. Norgett EE, et al. Hum Mol Genet. 2000 Nov 1;9(18):2761-6. doi: 10.1093/hmg/9.18.2761. Hum Mol Genet. 2000. PMID: 11063735

7

Filaggrin mutations are associated with recurrent skin infection in Singaporean Chinese patients with atopic dermatitis.

Cai SC, Chen H, Koh WP, Common JE, van Bever HP, McLean WH, Lane EB, Giam YC, Tang MB. Cai SC, et al. Br J Dermatol. 2012 Jan;166(1):200-3. doi: 10.1111/j.1365-2133.2011.10541.x. Epub 2011 Nov 17. Br J Dermatol. 2012. PMID: 21790526

8

Connexin 26 expression and mutation analysis in epidermal disease.

Di WL, Common JE, Kelsell DP. Di WL, et al. Cell Commun Adhes. 2001;8(4-6):415-8. doi: 10.3109/15419060109080763. Cell Commun Adhes. 2001. PMID: 12064628

9

A case of erythrokeratoderma variabilis without mutations in connexin 31.

Ishida-Yamamoto A, Kelsell D, Common J, Houseman MJ, Hashimoto M, Shibaki H, Asano K, Takahashi H, Hashimoto Y, Senshu T, Leigh IM, Iizuka H. Ishida-Yamamoto A, et al. Br J Dermatol. 2000 Dec;143(6):1283-7. doi: 10.1046/j.1365-2133.2000.03902.x. Br J Dermatol. 2000. PMID: 11122035

10

A novel mutation in the kinase domain of KIT in an Indian family with a mild piebaldism phenotype.

Chong KL, Common JE, Lane EB, Goh BK. Chong KL, et al. J Dermatol Sci. 2010 Sep;59(3):206-9. doi: 10.1016/j.jdermsci.2010.06.009. Epub 2010 Jul 8. J Dermatol Sci. 2010. PMID: 20688482 No abstract available.

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