9 citations
,
May 2012 in “PLOS ONE” This study found that integrin-linked kinase is crucial for various epidermal functions, including differentiation and barrier formation, and also plays a previously unreported role in melanocyte development and function.
September 2025 in “Animals” This study identified novel genetic variations in the KRTAP22-2 gene among eight sheep breeds but found no association between these genotypes and wool fibre traits, indicating possible species-specific differences compared to goats.
2 citations
,
August 2022 in “Animals” In this study, a specific genetic variant of KRTAP6-2 in Longdong cashmere goats was associated with finer cashmere fiber diameter, suggesting its potential as a molecular marker for breeding improvements.
3 citations
,
January 2019 in “Journal of Dermatology” This letter to the editor discusses the natural course of epidermolysis bullosa simplex with mottled pigmentation in a Japanese family but does not present new clinical results.
9 citations
,
September 2019 in “PLoS ONE” This study demonstrated that keratin K124 is specific to equine hoof lamellar tissue and established monoclonal antibodies that can specifically recognize K124 without cross-reacting with other tissues.
98 citations
,
June 2001 in “Journal of biological chemistry/The Journal of biological chemistry” This study identified a cluster of genes on chromosome 17 related to hair keratin-associated proteins, including 37 genes forming seven multigene families, localized in the hair shaft's upper cortex.
76 citations
,
February 1993 in “Journal of Biological Chemistry” This research observed that sheep and rabbit KAP6 genes, expressed in hair follicle cells, have high sequence similarity and indicate conservation due to evolutionary selection pressures.
August 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that KrasG12D mutant cells are typically cleared from adult pancreas tissues through mechanisms involving the EphA2 receptor, suggesting its role as a tumor suppressor in pancreatic cancer.
1 citations
,
March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
March 2026 in “Experimental Dermatology” This study developed an in vitro model using NTERT keratinocytes expressing AEC-related TP63 mutations, which replicated skin defects observed in AEC patients and offers a valuable tool for understanding the disorder and developing new treatments.
9 citations
,
July 2022 in “Journal of Biological Chemistry” This study in mice found that WWP2 facilitates odontoblast differentiation and dentin formation by targeting PTEN for degradation, thereby enhancing KLF5 activity, which may suggest its crucial role in dental development.
4 citations
,
January 1994 in “Yakugaku zasshi” In this study, EPC-K, a compound with antioxidant and moisturizing effects, was found to decompose significantly under certain conditions, impacting its stability in quasi drug hair-growing products.
2 citations
,
November 1996 in “PubMed” In this study, a "frequent profile" of hair proteins was observed in 180 of 182 individuals, showing consistent electrophoretic bands characteristic of keratins, with rare deviations in two samples.
3 citations
,
July 2022 in “Indian Journal of Dermatology” This report describes a case of acute localised exanthematous pustulosis in a 19-year-old boy after using amoxicillin-clavulanic acid, with new dermoscopic features identified.
14 citations
,
August 2021 in “Molecular Genetics and Metabolism Reports” This case series highlights the real-world challenges and experiences of US healthcare providers using pegvaliase for phenylketonuria treatment, emphasizing patient education on adverse events and dietary changes, and tailored titration schedules, while reporting that most patients achieved treatment efficacy despite initial adverse events.
March 2025 in “FEBS Journal” This study found that Epiprofin acts as a negative regulator of parathyroid hormone transcription, with potential implications for controlling PTH production in hyperparathyroidism.
5 citations
,
June 2008 in “British Journal of Dermatology”
April 2017 in “Journal of Investigative Dermatology” This study identified that dominant mutations in the KLHL24 gene cause epidermolysis bullosa through dysregulated autoubiquitination, leading to excessive degradation of keratin 14.
18 citations
,
January 2018 in “BMC dermatology” This paper describes a case of epidermolysis bullosa simplex with muscular dystrophy associated with a novel PLEC mutation and diffuse alopecia, highlighting a potential genetic link that remains uncertain.
November 2024 in “Journal of Investigative Dermatology” Bimekizumab quickly improves psoriasis symptoms and skin at the molecular level.
57 citations
,
January 1987 in “Journal of Biological Chemistry” This study identified and sequenced several keratin cDNA clones showing distinct expression patterns in mouse epithelia, with in situ hybridization highlighting differences in keratin distribution between normal and hyperproliferative tissues.
24 citations
,
February 2011 in “The American journal of pathology” This study found that AIRE, a usually nuclear protein, is expressed in the cytoplasm of human epidermal and follicular keratinocytes and associates with the intermediate filament protein cytokeratin 17, potentially impacting ectodermal abnormalities in APECED syndrome.
March 2024 in “International journal of molecular sciences” In this study, researchers identified three pathogenic de novo genetic variants contributing to epidermolysis bullosa simplex in young children, highlighting the complexity of genetic influences and underscoring the need for early genetic screening for accurate diagnosis and effective management.
75 citations
,
October 1999 in “Differentiation” This study suggests that mouse keratin 6 isoforms, K6a and K6b, have overlapping but distinct expression profiles, differing notably in their expression in suprabasal cells and response to phorbol esters.
9 citations
,
June 2014 in “Molecular biology reports” KAP9.2 and Hoxc13 genes are important for cashmere growth and vary in activity during different stages.
November 2024 in “Journal of Investigative Dermatology” Blocking the JAK/STAT pathway may help reduce skin sensitivity in Xeroderma pigmentosum.
January 2023 in “Austin Journal of Obstetrics and Gynecology” This study found that in a sample of girls and adolescents aged 15–24 years, the prevalence of PCOS was 22.5% according to the Rotterdam criteria.
2 citations
,
January 2017 in “Folia biologica” This study identified two single-nucleotide polymorphisms and three haplotypes in the KRTAP7-1 gene across yak, taurine, and zebu cattle, with the BOVIN-KRTAP7-1*A haplotype most prevalent.
62 citations
,
January 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified 16 novel high sulfur KAP genes and two KAP pseudogenes on chromosome 21q23, showing expression in a specific region of the hair fiber cuticle.
March 2010 in “Ejc Supplements” This review discusses the paradoxical effects of valproic acid on hair, noting that it can both cause alopecia and stimulate hair growth, but reports no new experimental findings.