11 citations
,
January 2021 in “British Journal of Dermatology” This report describes a new case of syndromic ichthyosis caused by compound heterozygous mutations in AP1B1, detailing the associated clinical features and molecular consequences in the patient.
August 2015 in “MOJ proteomics & bioinformatics” This study suggests that epithelial-derived pop-up keratinocytes (ePUKs) may improve regenerative medicine applications due to their specific phenotype and increased expression of proteins involved in regulating cellular movement and wound healing.
2 citations
,
May 2024 in “BMC Genomics” This study analyzed the genetics of the patchiness phenotype in New Zealand rabbits and found that the gene KRT82, with identified SNPs in its promoter, may serve as a potential biomarker for breeding these rabbits.
June 2024 in “British Journal of Dermatology” This article presents a family case study of dermatopathia pigmentosa reticularis linked to a specific KRT14 gene variant, detailing symptoms and stressing the importance of molecular diagnosis for management.
48 citations
,
February 2010 in “Molecular biology reports” This study found that KAP7.1 and KAP8.2 genes were significantly more expressed in secondary hair follicles than primary follicles, suggesting their role in regulating cashmere fiber diameter.
20 citations
,
January 2002 in “Laboratory Animals” This study identified a compound heterozygous mutation in a hairless rhesus macaque, which was associated with skin abnormalities similar to those in hairless mice and humans with APL.
56 citations
,
February 2010 in “PLOS ONE” This study demonstrates that canonical Wnt signaling is crucial for maintaining thymic epithelial microenvironments in postnatal thymus, possibly by affecting TEC progenitor cells.
21 citations
,
September 1997 in “British Journal of Dermatology” This study found that monilethrix in three unrelated European families is linked to the type II keratin gene cluster on chromosome 12q13, with no evidence of defects in type I keratins.
May 2026 in “Theranostics” This study found that the DKK3-CKAP4 signaling axis is involved in fibroimmune remodeling in androgenetic alopecia and that targeting this pathway may restore a regenerative hair follicle environment, offering a potential therapeutic strategy to counteract hair follicle miniaturization.
26 citations
,
May 2016 in “Journal of biological chemistry/The Journal of biological chemistry” This study found that mice lacking sPLA2-IIE had distinct skin abnormalities, particularly affecting hair follicles, highlighting the differing roles of sPLA2 isoforms in mouse skin.
8 citations
,
August 1987 in “The Journal of Dermatology” This study reports that the monoclonal antibody BKN-1 specifically stained basal cell epithelioma cells and certain normal skin structures, indicating a similarity in keratin expression between the tumor and follicular epithelium below the isthmus portion.
68 citations
,
March 2008 in “Experimental dermatology” This study introduced a novel in vitro assay for tracking melanosome transfer between melanocytes and keratinocytes, facilitating the quantification of melanin transfer and supporting the role of filopodia as a conduit.
93 citations
,
April 2003 in “Proceedings of the National Academy of Sciences of the United States of America” This study identified an unexpected critical role for the FATP4 protein in skin and hair development in mice, linking it to a potential candidate gene for restrictive dermopathy in humans.
January 2024 in “Journal of Hard Tissue Biology” In this study, researchers found that a high-fat diet in mice induced downregulation of certain Krtap genes in the tongue, which may be linked to structural issues or oral cancer risk, highlighting a potential connection between oral health and systemic diseases like metabolic syndrome.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study concluded that KLF4 is a crucial regulator of hair follicle stem cell quiescence and may work by interacting with multiple transcription factors to control related genes.
5 citations
,
May 2014 in “Clinical and Experimental Dermatology” This study found that novel compound heterozygous mutations in the desmoplakin gene lead to hair shaft abnormalities and can result in lethal cardiomyopathy.
5 citations
,
August 2021 in “Experimental dermatology” This study suggests that Merkel cell polyomavirus T antigen-positive cells resembling Merkel cell carcinoma may originate from epithelial cells in human hair follicles, potentially informing future transgenic mouse models for this cancer.
11 citations
,
May 2013 in “Journal of Investigative Dermatology” KRTAP10 proteins help form the hair shaft's tough outer layer by interacting with specific hair keratins.
This study found that overexpression of antizyme in mice with activated MEK reduced skin tumor growth by inhibiting putrescine accumulation, slowing cell growth, and increasing G2/M transit time.
8 citations
,
April 1997 in “Experimental Dermatology” This study found that hHbl gene expression is localized in the cortical cells of the human hair shaft and is notably high in pilomatricoma cells transitioning to hair shaft keratinocytes.
3 citations
,
June 2022 in “European journal of human genetics” This study reports the first cases of recessive KRT17-related pachyonychia congenita involving all ectodermal derivatives in seven members of two consanguineous Pakistani families.
421 citations
,
September 2003 in “Development” This study concluded that label-retaining cells in mouse epidermis differ in their sensitivity to proliferative stimuli, influencing their division and potential transdifferentiation without consistently depleting their population.
265 citations
,
March 1993 in “The EMBO Journal” Keratinocyte growth factor significantly alters skin and tissue development.
46 citations
,
November 1998 in “Experimental Cell Research” This study found that K15 is variably expressed in sheep and mouse hair follicles, with specific patterns suggesting a role in the early stages of keratinocyte differentiation.
1 citations
,
February 2021 in “Animal biotechnology” This study found that specific variants of the KAP6-1 gene in cashmere-producing goats were associated with changes in fiber diameter and length, suggesting potential as genetic markers for fiber improvement.
52 citations
,
April 2012 in “Journal of Investigative Dermatology” This study found that KRTAP2 proteins predominantly express in the hair shaft cortex of humans, interact with hair keratins, and play crucial roles in hair shaft keratinization.
22 citations
,
December 2015 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that mice with a mutation in the Zdhhc13 gene exhibited increased susceptibility to skin cancer, highlighting a potential protective role of palmitoyl acyltransferase in skin carcinogenesis.
38 citations
,
October 2001 in “British Journal of Dermatology” This study identified a new keratin, K6irs, as a potential histological marker for the inner root sheath of hair follicles in mice and humans, and as a candidate gene for hereditary hair defects.
7 citations
,
June 2020 in “Cells” In this study, mice lacking podoplanin in epidermal keratinocytes showed reduced tumor cell invasion and peritumoral lymphangiogenesis, suggesting that keratinocyte-expressed podoplanin contributes to advanced stages of skin tumor progression.
477 citations
,
March 2004 in “Proceedings of the National Academy of Sciences” This study reports that the DMI3 gene, essential for nodule formation in legume-rhizobial symbiosis, encodes a calcium/calmodulin-dependent protein kinase, highlighting its role in multiple plant symbioses.