February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” This study reports a novel mutation in the TP63 gene associated with T and B cell lymphopenia in an EEC patient, suggesting that EEC diagnosis should include TREC assay and evaluation for immunodeficiency.
11 citations
,
November 2015 in “Carcinogenesis” In this study, researchers found that deleting TNFα in PKCε transgenic mice reduced the development of cutaneous squamous cell carcinomas induced by UV radiation or a chemical protocol.
January 2026 in “International Journal of Biological Macromolecules” This study found that different polypeptides, including KP peptide and hydrolyzed keratin, can improve the mechanical properties of damaged hair under varying conditions, with reduction environments and cysteine content influencing their effectiveness.
3 citations
,
August 2022 in “Archives animal breeding/Archiv für Tierzucht” This study found that specific genetic variants of the KAP22-1 gene in Egyptian sheep breeds were significantly associated with wool traits like crimp, staple length, kemp score, and greasy color grade, suggesting their potential use in breeding programs.
February 2020 in “Definitions” This article discusses the human KRT72 wild-type allele's role in hair formation and reports no new research findings.
3 citations
,
December 2021 in “Proteins” This study found that straight crimp mutant wool differs from crimpy wool in the layout of cortical cells and the relative proportions of keratin and keratin-associated proteins.
6 citations
,
November 2011 in “Journal of Dermatological Science” A new gene mutation may allow some piebaldism patients to regain skin color in white patches.
26 citations
,
May 2007 in “Differentiation” This study suggests that Foxn1 acts as a brake on PKC signaling in keratinocytes, thereby modulating the stages of differentiation by controlling PKC activity.
November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
April 2026 in “Clinical Dermatology Review” In this study, patients with keratosis pilaris exhibited significant quality of life impairment, with histopathology and dermoscopy revealing consistent skin and hair changes.
14 citations
,
November 1987 in “Journal of The American Academy of Dermatology” A woman developed a severe skin reaction called toxic epidermal necrolysis after taking the antibiotic cephalexin.
14 citations
,
August 2014 in “The FASEB Journal” This study found that the catalytically inactive serine protease CAP1/Prss8 can still induce skin disorders in mice and is subject to inhibition by nexin-1, independent of its catalytic activity.
22 citations
,
September 2003 in “Journal of Investigative Dermatology” This study analyzed patients with X-linked dominant chondrodysplasia punctata and identified novel mutations in the emopamil-binding protein gene, highlighting the need for genetic testing alongside biochemical analysis for accurate diagnosis.
20 citations
,
February 2019 in “Genes” This study identifies a likely pathogenic homozygous missense variant in the AEBP1 gene in a patient with symptoms of classical Ehlers-Danlos syndrome, suggesting new perspectives for EDS classification and research.
9 citations
,
September 2013 in “Journal of Applied Animal Research” This study identified eight alleles of the caprine KAP13-3 gene in cashmere goats, which could influence gene expression and cashmere fiber characteristics.
February 2026 in “HCA Healthcare Journal of Medicine” This review discusses identifying keratosis pilaris, its common mimics, and its associated skin diseases across different skin tones but reports no new results.
46 citations
,
September 2007 in “Journal of Investigative Dermatology” November 2022 in “Munich Personal RePEc Archive (Ludwig Maximilian University of Munich)” In this study, the pi4kβ1β2 double mutant in Arabidopsis thaliana exhibited altered root growth, increased susceptibility to Blumeria graminis, and a potential correlation between PI4K activity and auxin response and immunity due to changes in vesicular trafficking and actin filaments.
87 citations
,
January 2017 in “PLoS Genetics” This study found that simultaneously inhibiting both KLK5 and KLK7 proteases completely rescued skin barrier defects in a mouse model of Netherton syndrome, suggesting both should be therapeutic targets.
September 2022 in “Canadian journal of animal science” This study found that polymorphisms in KRTAP13.1, KRTAP27-1, and KRTAP24-1 were significantly associated with fiber diameter in Jiangnan cashmere goats, which may aid future breeding and conservation efforts.
4 citations
,
December 2013 in “The Journal of Dermatology” This letter to the editor discusses a case of delayed-onset pachyonychia congenita linked to a new mutation in keratin 6b but presents no new research findings.
7 citations
,
December 1970 in “Biochimica et Biophysica Acta (BBA) - Protein Structure”
April 2023 in “Cancer research” This study suggests that KRTAP2-3 may serve as a novel biomarker to identify cells in the polyaneuploid cancer cell state, which is linked to therapy resistance and poor prognosis in prostate cancer.
24 citations
,
July 2014 in “Journal of Investigative Dermatology” This study reports that a widespread founder SERPINB7 mutation underlies Nagashima-type palmoplantar keratosis, which is a common form of palmoplantar keratosis in Asian populations.
3 citations
,
March 2019 in “European Journal of Dermatology” A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.
10 citations
,
July 2023 in “Pharmaceutics” In this study using mice and human keratinocyte cells, researchers found that activating PKM2-mediated glycolysis and Wnt/β-catenin signaling, particularly via combined treatments, significantly accelerated wound healing and induced angiogenesis in wound beds.
175 citations
,
September 1998 in “British Journal of Dermatology” This study found that mutations in the K17 gene underlie both pachyonychia congenita type 2 and steatocystoma multiplex phenotypes, regardless of the specific mutation involved.
3 citations
,
May 2018 in “The Indian Journal of Animal Sciences” This study suggests that the KAP 7 gene may serve as a potential molecular marker for genetic selection to improve staple length and greasy fleece weight in Rambouillet sheep.
92 citations
,
January 2012 in “International Journal of Biological Sciences” This article proposes an updated naming system for keratin-associated proteins and genes, aiming to improve data storage and retrieval by including species information and genetic variation.
1 citations
,
February 2013 in “InTech eBooks” This article discusses research about Netherton syndrome, highlighting its contributions to understanding epidermal structure, immune responses, and processes like atopic dermatitis, but it reports no new clinical findings.