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.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, the researchers introduced a mutation in mice to mimic Olmsted syndrome and found that the mutation caused hair loss due to impaired keratinocyte differentiation and depletion of hair follicle stem cells.
40 citations
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December 2012 in “PLoS ONE” This study found that selective deletion of Ctip2 in epidermal keratinocytes in adult mice leads to atopic dermatitis-like inflammation and suggests Ctip2 plays a crucial role in skin barrier maintenance and inflammatory regulation.
6 citations
,
March 2007 in “BioTechniques” This study observed that PCR-based genotyping for cre-loxP mice can lead to errors due to cre-mediated recombination in non-target tissues like tails, affecting the detection of lox alleles.
34 citations
,
August 2019 in “Journal of Allergy and Clinical Immunology” mTORC2 is crucial for healthy skin barrier by regulating lipids and filaggrin.
In this study, researchers found that the keratin-associated protein 36-1 gene (KRTAP36-1) allele C is linked to variations in mean fibre curvature of fine wool in Chinese Tan lambs, suggesting its role in their distinctive curly coat.
227 citations
,
February 1989 in “The Journal of Comparative Neurology” This study found that calcitonin‐gene‐related peptide immunoreactive sensory axons in rats are predominantly involved in tissue maintenance rather than nociceptive functions.
10 citations
,
January 1995 in “Dermatology” This case study suggests that early or significant alopecia in young adults may warrant investigation for underlying congenital conditions like trichorhinophalangeal syndrome.
65 citations
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December 2010 in “Current Pharmaceutical Biotechnology” This review explores the diverse roles of TRPV1, emphasizing its involvement in both pain and non-pain-related functions, but reports no new clinical results.
In this study, calcium imaging in transgenic mice revealed that non-neuronal TRPV4 in the skin enhances afferent signaling during electrical stimulation, suggesting a role for neuroimmune interaction in acupuncture signal initiation.
11 citations
,
September 2023 in “Nature Communications” In this study, researchers found that the cell surface protein Lrig1 plays a crucial role in regulating the suppressive function of regulatory T cells, suggesting it as a potential target for treating autoimmune diseases, as evidenced by experiments in mouse models.
March 2026 in “Adipocyte” This study identified transcription elongation as a crucial regulatory factor in adipocyte cell fate, showing that the elongation factors Spt4 and Spt6 are essential for proper adipogenic differentiation by aiding RNA polymerase II progression through key adipogenic genes.
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.
10 citations
,
August 1998 in “Journal of Investigative Dermatology” 12 citations
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March 2021 in “Journal of Investigative Dermatology” TRPM5 is crucial for maintaining hair growth.
89 citations
,
May 2005 in “Stem Cells” This study found that keratinocyte stem cells in mouse skin are closely related to side population or BCRP1-positive cells based on their localization and marker expression.
6 citations
,
December 2021 in “PLoS Genetics” This study found that PRC2 plays a non-instructive role in adult hair follicle stem cells, with its loss not affecting quiescence or cell identity, despite upregulation of genes linked to activation.
August 2024 in “American Journal of Medical Genetics Part A” In this case study, researchers detailed two Saudi cases of the ultra-rare Trichohepatoneurodevelopmental syndrome, identifying pathogenic variants in the CCDC47 gene and reinforcing a strong gene-disease association, which helps clarify the disorder's clinical features and genetic mutations.
145 citations
,
May 2008 in “Cancer Science” This review discusses how increased gene copy number for telomerase components may contribute to telomerase up-regulation in cancer cells, although the exact mechanisms are not fully understood.
October 2019 in “Al Mustansiriyah Journal of Pharmaceutical Sciences” This study found that the CTLA-4 gene polymorphism (rs733618) has no association with polycystic ovarian syndrome in the studied population.
56 citations
,
January 2014 in “Journal of Investigative Dermatology” Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.
9 citations
,
November 2007 in “Blood” This study found that a mutation in the Tmprss6 gene disrupts hepcidin regulation, leading to iron deficiency and alopecia in mice, highlighting TMPRSS6's vital role in iron absorption.
June 2023 in “British Journal of Dermatology” In this case report, researchers described a female child with total alopecia due to a mutation in the SNRPE gene, emphasizing the need for updated genetic testing as knowledge advances to avoid diagnostic delays in hereditary nonsyndromic hypotrichosis.
3 citations
,
October 2024 in “Advances in Therapy” In this study, Chinese children with central precocious puberty receiving 6-monthly injections of triptorelin showed luteinizing hormone suppression and slowed development of sexual characteristics over 12 months, without severe adverse events, suggesting it may be an effective treatment option for this population.
105 citations
,
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.
44 citations
,
May 2023 in “MedComm” This review highlights the potential of PROTAC technology in drug discovery for previously undruggable targets, particularly in cancer therapy, while emphasizing the urgent need to discover more E3 ligase recruiters to optimize targeted protein degradation.
2 citations
,
May 2023 in “International Journal of Molecular Sciences” This review discusses current knowledge about the TRPV3 ion channel's role in skin functions and diseases, highlighting its potential as a therapeutic target for pain and itch, though suitable ligands are limited.
46 citations
,
May 1995 in “Proceedings of the National Academy of Sciences” This study demonstrated that a specific 9-kbp fragment of the bovine keratin 6 gene effectively directs tissue-specific and inducible expression in transgenic mice, suggesting potential applications for targeted gene therapy in hyperproliferative skin conditions.
4 citations
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January 1994 in “Current Opinion in Endocrinology & Diabetes” This review discusses multiple physiological roles of parathyroid hormone-related protein, such as cartilage mineralization and hair follicle regulation, and reports no new experimental results.
1 citations
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November 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that in mice, knockout of Rac1 and Rac3 in keratinocytes led to reduced white adipose tissue and revealed Rac-dependent paracrine pathways affecting pre-adipocyte differentiation.