Zobrazeno 1 - 10
of 219
pro vyhledávání: '"palmoplantar hyperkeratosis"'
Autor:
Chakriya Chitsamankhun, Nutwara Siritongtaworn, B. P. J. Fournier, Kanokwan Sriwattanapong, Thanakorn Theerapanon, Lakshman Samaranayake, Thantrira Porntaveetus
Publikováno v:
Journal of Translational Medicine, Vol 22, Iss 1, Pp 1-25 (2024)
Abstract Cathepsin C (CTSC) is a lysosomal cysteine protease constitutively expressed at high levels in the lung, kidney, liver, and spleen. It plays a key role in the activation of serine proteases in cytotoxic T cells, natural killer cells (granzym
Externí odkaz:
https://doaj.org/article/87fdce8af1af48169bd62be658fc0378
Autor:
Anigilaje EA, Dzuachii DO
Publikováno v:
Nigerian Journal of Paediatrics, Vol 41, Iss 1, Pp 74-77 (2024)
Palmoplantar keratoderma (PPK) is a hereditary cutaneous disorder characterized by a marked hyperkeratosis of the palms and soles. A variant that was inherited in an autosomal dominant form was highlighted in a 20-month-old girl-child. The proband
Externí odkaz:
https://doaj.org/article/2748b7bf78f3489bab062eab92da9a73
Publikováno v:
Acta Dermato-Venereologica, Vol 104 (2024)
Abstract missing (Short communication)
Externí odkaz:
https://doaj.org/article/90d8b9a33805428dae8d44c126d5388e
Autor:
Mahmoud Ghanei, Mohammad R. Abbaszadegan, Mohammad M. Forghanifard, Azadeh Aarabi, Hamidreza Arab
Publikováno v:
Clinical and Experimental Dental Research, Vol 7, Iss 4, Pp 568-573 (2021)
Abstract Objectives In this study, we analyzed the whole exomes of CTSC gene in a family with history of PLS. Materials and methods Genomic DNA was extracted from peripheral blood and genotype analysis was performed. The mutated protein sequence was
Externí odkaz:
https://doaj.org/article/3d34c828a6bd4d09855c802102cd00d6
Autor:
Khadijeh Abdal, Mohammadali Rozgar
Publikováno v:
Journal of Kerman University of Medical Sciences, Vol 28, Iss 3, Pp 301-305 (2021)
Papillon–Lefevre syndrome (PLS) is a extreme rare of autosomal recessive inheritance characterized by disorder of keratinization, palmoplantar hyperkeratosis, progressive destructive periodontal and early loss of both deciduous and permanent dentit
Externí odkaz:
https://doaj.org/article/73be2748d0e842eaa06223fa54b7bcce
Autor:
Martino Carriero
Publikováno v:
Drug Target Insights, Vol 16, Iss 1 (2022)
Erythrodermic psoriasis (EP) is a rare and severe form of psoriasis that affects 1 to 2.25% of patients, increasing mortality risk. To date, very few therapies have been approved for the treatment of this condition. Recently, biological therapies whi
Externí odkaz:
https://doaj.org/article/8f0ff1f478d240d98f554a209c412b05
Akademický článek
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Akademický článek
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Publikováno v:
Nigerian Postgraduate Medical Journal, Vol 22, Iss 1, Pp 75-82 (2015)
Aims and objectives: The objective of this paper is to give a review of the literature on the aetiopathogenesis, clinical presentation, differential diagnosis and treatment of Papillon-Lefθvre Syndrome, and present three cases of PLS in siblings of
Externí odkaz:
https://doaj.org/article/94697cb98a144a2a848e9878cba0d0cd
Autor:
O O Soyele, A O Taiwo
Publikováno v:
Journal of Orofacial Sciences, Vol 7, Iss 1, Pp 54-58 (2015)
Background: Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive genodermatosis characterized by a diffused palmoplantar hyperkeratosis and severe early-onset periodontitis. Although the exact pathogenesis of this syndrome is still unknown,
Externí odkaz:
https://doaj.org/article/58d57178a28441428afa992539730770