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SDR9C7 missense variant in a Chihuahua with non-epidermolytic ichthyosis.
Anim Genet
August 2023
Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland.
Ichthyoses represent a heterogeneous group of cornification disorders that are associated with skin barrier defects. We investigated a 9-month-old Chihuahua showing excessive scale formation. Clinical and histopathological examinations revealed non-epidermolytic ichthyosis and a genetic defect was suspected.
View Article and Find Full Text PDFA de novo variant in the keratin 1 gene (KRT1) in a Chinese shar-pei dog with severe congenital cornification disorder and non-epidermolytic ichthyosis.
PLoS One
October 2022
Institute of Genetics, Vetsuisse Faculty, University of Bern, Bern, Switzerland.
Article Synopsis
- A 3-month-old Chinese shar-pei puppy with ichthyosis displayed symptoms like scaling, hair loss, and issues with its footpads, indicating a skin condition.
- Genetic analysis revealed a specific 3 bp deletion in the KRT1 gene of the puppy that likely affects protein function, but the puppy's parents exhibited no symptoms.
- This study is significant as it documents the first known case of KRT1-related non-epidermolytic ichthyosis in domestic animals, suggesting a direct link between the genetic variant and the puppy's condition.
Post Zygotic, Somatic, Deletion in KERATIN 1 V1 Domain Generates Structural Alteration of the K1/K10 Dimer, Producing a Monolateral Palmar Epidermolytic Nevus.
Int J Mol Sci
June 2021
Department of Experimental Medicine, University of Tor Vergata, 00133 Rome, Italy.
Palmoplantar keratodermas (PPKs) are characterized by thickness of stratum corneum and epidermal hyperkeratosis localized in palms and soles. PPKs can be epidermolytic (EPPK) or non epidermolytic (NEPPK). Specific mutations of keratin 16 (K16) and keratin 1 (K1) have been associated to EPPK, and NEPPK.
View Article and Find Full Text PDFAltered keratinocyte differentiation is an early driver of keratin mutation-based palmoplantar keratoderma.
Hum Mol Genet
July 2019
Department of Biochemistry and Molecular Biology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD, USA.
The type I intermediate filament keratin 16 (KRT16 gene; K16 protein) is constitutively expressed in ectoderm-derived appendages and in palmar/plantar epidermis and is robustly induced when the epidermis experiences chemical, mechanical or environmental stress. Missense mutations at the KRT16 locus can cause pachyonychia congenita (PC, OMIM:167200) or focal non-epidermolytic palmoplantar keratoderma (FNEPPK, OMIM:613000), which each entail painful calluses on palmar and plantar skin. Krt16-null mice develop footpad lesions that mimic PC-associated PPK, providing an opportunity to decipher its pathophysiology, and develop therapies.
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