124 citations
,
September 1992 in “Endocrinology” This article discusses the structure of the human type II 5 alpha-reductase gene and reports no new experimental results.
13 citations
,
January 2018 in “Yonsei Medical Journal” This study reports the first case of Olmsted syndrome in a Korean patient, identifying a novel TRPV3 gene mutation, p.Gly568Val, associated with the condition.
This study found that selective inactivation of ribonucleotide excision repair in mouse epidermis led to spontaneous DNA damage, skin inflammation, and the development of squamous cell carcinoma, suggesting potential implications for cancer development in humans.
10 citations
,
November 2018 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” This case report identifies a mutation in the TRPS1 gene, leading to the diagnosis of trichorhinophalangeal syndrome type I in a young girl and her family, highlighting the importance of detailed clinical and family history for proper diagnosis.
This study found that hair germ and epidermal basal cells differ in keratin expressions in rat hair tissues, with hair-specific keratins appearing after the differentiation of each layer.
July 2022 in “Journal of Investigative Dermatology” This study found that a TYK2 inhibitor, BMS-986202, may restore immune privilege in hair follicles and promote hair regrowth in a humanized alopecia areata mouse model by inhibiting IL-12-mediated signaling.
August 2012 in “Nature Cell Biology” This study provides direct evidence that the Wnt-β-catenin pathway promotes TERT expression in stem and cancer cells, linking tumorigenesis with pluripotency.
17 citations
,
February 2019 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” This study found that manipulating AKR1D1 expression in human liver cells effectively regulates glucocorticoid clearance and receptor activation, highlighting its role in liver-specific steroid hormone regulation.
April 2023 in “Journal of Investigative Dermatology” RNase L suppresses regeneration in mammals.
16 citations
,
March 2013 in “The Journal of Dermatology” This case report identifies a novel mutation in a patient with trichorhinophalangeal syndrome 1 and reduced TRPS 1 protein expression in hair follicle tissues compared to normal subjects.
37 citations
,
August 2000 in “Journal of Cutaneous Pathology” This study found that keratin immunohistochemistry suggests neoplastic cells in eccrine and apocrine poromas are closely related to dermal sweat duct cells, but cannot differentiate these poromas based solely on keratin patterns.
2 citations
,
April 2018 in “Journal of Investigative Dermatology” This case study in a renal transplant patient observed that eruptive KA-type SCCs exhibited aggressive behavior and genetic expression changes following intralesional chemotherapy, indicating potential caution against routine use of such treatments in similar cases.
1 citations
,
October 1988 in “Clinics in Dermatology” Scientists identified and cloned specific keratin proteins in mouse hair.
August 2023 in “Journal of Investigative Dermatology” This study using scRNA-seq on 96 skin biopsies from 51 healthy individuals revealed distinct cell signaling pathways in different skin sites, including unique pathways in facial and palmoplantar skin, which may explain their varying susceptibilities to skin disorders.
This research observed that removing RNase L in mice enhances regenerative capacity through increased IL-36 and wound-induced hair neogenesis, highlighting RNase L as a gene that represses regeneration by moderating immune responses during viral infections.
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.
5 citations
,
December 2002 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” This study suggests that keratinocytes in skin and mucous membranes might be involved in prion disease transmission due to their expression of PrPc, potentially serving as an entry point for prions.
88 citations
,
June 2000 in “Journal of Investigative Dermatology” Keratin 17 is important for hair and nail structure and affects pachyonychia congenita symptoms.
219 citations
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July 1995 in “PubMed” This study found that recombinant keratinocyte growth factor (rKGF) stimulated hair growth and provided a protective effect against alopecia in murine models, suggesting its role in hair follicle development and regeneration.
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.
7 citations
,
April 2012 in “Biomolecular concepts” This article reviews the role of keratins in epithelial function and structure, discussing their involvement in growth control, organelle functions, and pathomechanisms of disorders, but reports no new clinical results.
43 citations
,
January 2016 in “Development” This study identified a critical NF-κB-LHX2-TGFβ2 signaling pathway essential for primary hair follicle development in mice, revealing new insights into the underlying mechanisms of morphogenesis.
1 citations
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November 2024 in “EMBO Reports” In this study, researchers observed that deleting the Gpr54 gene accelerated the hair cycle and enhanced hair regeneration in mice by modifying the NAFTc3-SFRP1-Wnt signaling pathway, suggesting Gpr54 as a potential target for hair loss treatments.
October 2024 in “Journal of the Endocrine Society” This case report highlights that a patient with resistance to thyroid hormone was misdiagnosed as having Graves’ disease, leading to unnecessary radioactive iodine treatment.
6 citations
,
December 1990 in “PubMed” This study examined the expression patterns of various cytokeratins in the outer root sheath of human anagen hair follicles, noting distinct differentiation patterns and localization of keratin markers.
49 citations
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August 2004 in “The FASEB Journal” This study found that transgenic mice expressing human keratin K8 in the epidermis showed increased progression of skin lesions toward malignancy, suggesting a role for K8 in the development of invasive skin cancer.
105 citations
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February 1996 in “Journal of biological chemistry/The Journal of biological chemistry” In this study, sequences upstream of the TGM3 gene were found to regulate epithelial-specific gene expression in keratinocytes, suggesting potential applications in gene therapy.
January 2009 in “ScholarlyCommons (University of Pennsylvania)” This study provided the first X-ray crystal structure of the mammalian steroid hormone reductase AKR1D1 and identified a disease-related mutant, P133R, which may impact bile acid metabolism and cause clinical symptoms.
5 citations
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October 2020 in “Frontiers in Cell and Developmental Biology” This study found that the trichogenicity of cultured human outer root sheath follicular keratinocytes decreased with longer cultivation periods and was significantly influenced by the expression of the transcription factor FOXA2.