Results 101 to 110 of about 1,421 (196)

Naturally occurring genetic diseases caused by de novo variants in domestic animals

Animal Genetics, Volume 55, Issue 3, Page 319-327, June 2024.
Abstract With the advent of next‐generation sequencing, an increasing number of cases of de novo variants in domestic animals have been reported in scientific literature primarily associated with clinically severe phenotypes. The emergence of new variants at each generation is a crucial aspect in understanding the pathology of early‐onset diseases in ...
Luísa Azevedo, Andreia P. Amaro, João Niza‐Ribeiro, Mónica Lopes‐Marques   +3 more
wiley   +1 more source

Role of the keratin 1 and keratin 10 tails in the pathogenesis of ichthyosis hystrix of Curth Macklin.

PLoS ONE, 2018
Ichthyosis Hystrix of Curth-Macklin (IH-CM) is a rare manifestation of epidermolytic ichthyosis (EI) that is characterised by generalised spiky or verrucous hyperkeratosis. The disorder is further distinguished by the presence of binucleated cells in the
Alessandro Terrinoni, Biagio Didona, Sabrina Caporali, Giovanni Chillemi, Alessandro Lo Surdo, Mauro Paradisi, Margherita Annichiarico-Petruzzelli, Eleonora Candi, Sergio Bernardini, Gerry Melino   +9 more
doaj   +1 more source

Bilateral ectropion in a 3 months old baby with lamellar ichthyosis: a rare case report [PDF]

, 2017
Ichthyosiform dermatoses are a group of hereditary disorders characterized by dryness and roughness of the skin with excessive accumulation of epidermal scales.
Kumar, Sweta S., Raj, Shailly, Sami, Ifsa, Singh, Sonali   +3 more
core   +2 more sources

Regulation of Expression of Keratins and their Pathogenic Roles in Keratinopathies [PDF]

, 2018
Keratins are the epithelia-specific members of intermediate filament superfamily and consist of 54 members. They serve primarily as cytoskeletons, which sustain cell structures.
Komine, Mayumi
core   +1 more source

Novel Case of Staphylococcal Scalded Skin Syndrome in a 26-year-old with a History of Ichthyosis [PDF]

Staphylococcal scalded skin syndrome (SSSS) is a bacterial toxin-mediated skin disorder that primarily affects neonates but rarely also presents in adults with underlying kidney disease.
Mirhadi, Kayvan, Shah, Gunja S, Snyder, Sarah   +2 more
core   +2 more sources

Bilateral lower extremity hyperkeratotic plaques: a case report of ichthyosis vulgaris [PDF]

, 2015
Here, we report a case of a middle-aged woman presenting with severe, long-standing, hyperkeratotic plaques of the lower extremities unrelieved by over-the-counter medications.
Jalali, Omid, Leight, Hayley, Zinn, Zachary   +2 more
core   +2 more sources

Genetic investigation of inherited skin diseases in cats and dogs [PDF]

The skin is the largest organ in the body and performs many vital functions. Its structure and integrity can be compromised by various external and internal factors.
Kiener, Sarah
core   +1 more source

Phenotypic variation in epidermolytic ichthyosis: clinical and functional evaluation of the novel p.(Met339Lys) mutation in the L12 domain of KRT1 [PDF]

, 2015
R.G.L. Nellen, Ivo F. Nagtzaam, A. Jeannette M. Hoogeboom, Reno S. Bladergroen, Marcel F. Jonkman, Peter M. Steijlen, Maurice A. M. Van Steensel, Michel van Geel   +7 more
openalex   +1 more source

Erratum to: Interleukin-18 as a severity marker and novel potential therapeutic target for epidermolytic ichthyosis [PDF]

, 2023

openalex   +1 more source

Epidermolytic Ichthyosis Treated with Low-dose Isotretinoin

Journal of the Philippine Dermatological Society
Affecting only 1 in 200,000–300,000 persons worldwide, epidermolytic ichthyosis (EI) is a rare autosomal dominant genodermatosis presenting with a characteristic phenotype of generalized corrugated scaling. We report a case of EI highlighting significant improvement in clinical outcomes and quality of life. A 27-year-old Filipino male sought to consult
Nica Minerva Quijalvo Olivar-Floro, Janelle Geronimo Go   +1 more
openaire   +1 more source