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Human diseases: clues to cracking the connexin code?
Kelsell DP, Dunlop J, Hodgins MB. Kelsell DP, et al. Trends Cell Biol. 2001 Jan;11(1):2-6. doi: 10.1016/s0962-8924(00)01866-3. Trends Cell Biol. 2001. PMID: 11146276 Review.
The palmoplantar keratodermas: much more than palms and soles.
Kelsell DP, Stevens HP. Kelsell DP, et al. Mol Med Today. 1999 Mar;5(3):107-13. doi: 10.1016/s1357-4310(98)01428-2. Mol Med Today. 1999. PMID: 10203734 Review.
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
Connexin mutations in skin disease and hearing loss.
Kelsell DP, Di WL, Houseman MJ. Kelsell DP, et al. Am J Hum Genet. 2001 Mar;68(3):559-68. doi: 10.1086/318803. Epub 2001 Jan 25. Am J Hum Genet. 2001. PMID: 11179004 Free PMC article. Review. No abstract available.
A Moroccan family with autosomal recessive sensorineural hearing loss caused by a mutation in the gap junction protein gene connexin 26 (GJB2).
Lench NJ, Markham AF, Mueller RF, Kelsell DP, Smith RJ, Willems PJ, Schatteman I, Capon H, Van De Heyning PJ, Van Camp G. Lench NJ, et al. J Med Genet. 1998 Feb;35(2):151-2. doi: 10.1136/jmg.35.2.151. J Med Genet. 1998. PMID: 9507396 Free PMC article.
Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases.
Rajpopat S, Moss C, Mellerio J, Vahlquist A, Gånemo A, Hellstrom-Pigg M, Ilchyshyn A, Burrows N, Lestringant G, Taylor A, Kennedy C, Paige D, Harper J, Glover M, Fleckman P, Everman D, Fouani M, Kayserili H, Purvis D, Hobson E, Chu C, Mein C, Kelsell D, O'Toole E. Rajpopat S, et al. Arch Dermatol. 2011 Jun;147(6):681-6. doi: 10.1001/archdermatol.2011.9. Epub 2011 Feb 21. Arch Dermatol. 2011. PMID: 21339420 Clinical Trial.
Absence of BRAF gene mutations in uveal melanomas in contrast to cutaneous melanomas.
Edmunds SC, Cree IA, Dí Nícolantonío F, Hungerford JL, Hurren JS, Kelsell DP. Edmunds SC, et al. Br J Cancer. 2003 May 6;88(9):1403-5. doi: 10.1038/sj.bjc.6600919. Br J Cancer. 2003. PMID: 12778069 Free PMC article.
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
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