12 citations
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September 2021 in “PLoS ONE” In this study, researchers found that interaction between transcription factor EBF1 and gene WNT10A, influenced by a genetic variant, may play a role in hair shaft formation and anagen shortening in male pattern baldness.
14 citations
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April 2008 in “PROTEOMICS” This study suggests that the down-regulation of 14-3-3 proteins in wild-type keratinocytes, absent in Smad4 mutant keratinocytes, might contribute to the failure of hair follicles to initiate catagen in Smad4 knockout mice.
32 citations
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May 1999 in “Biochemical and Biophysical Research Communications” This study found that the gene BSSP, a serine protease, is predominantly expressed in sebaceous glands and is overexpressed in nude mouse skin.
November 2025 in “The Journal of Immunology” This study found that administering an S1PR 1&4 modulator reduced alopecia areata lesion size and decreased CD8+ T cell infiltration in mice, suggesting potential as a treatment for this condition.
April 2005 in “Journal of Investigative Dermatology” This compilation reviews multiple dermatologic studies, reporting findings such as the lack of a psoriasis-susceptibility allele in cluster 17, and highlighting a mouse model for studying hair follicle formation, among others.
9 citations
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October 2022 in “Journal of Molecular Neuroscience” This study reports a novel LSS gene mutation in an Egyptian family with alopecia intellectual disability syndrome 4, expanding the known clinical and genetic features of the condition.
28 citations
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May 2020 in “BMC plant biology” This study concluded that GLCAT14A-C genes are crucial for the function of glucuronic acid transfer to AGPs in Arabidopsis, affecting various growth and reproductive traits such as seed germination and root hair growth.
11 citations
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July 2021 in “Physiologia Plantarum” In this study, the gene SlPHL1 was identified as a transcription factor in tomatoes that enhances phosphate starvation responses by upregulating specific genes.
4 citations
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July 2012 in “Genesis” This study reported that a Megsin-Cre transgene enables genetic manipulation primarily in skin, forestomach, and esophagus tissues, offering a new tool for studying development and diseases in these areas.
5 citations
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November 2017 in “Asian Journal of Beauty and Cosmetology” This study found that sinapic acid demonstrated antioxidant and anti-inflammatory effects against UVB-induced damage in human keratinocytes, suggesting its potential as an anti-aging cosmetic ingredient.
8 citations
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March 2004 in “Mammalian genome” KAP genes are crucial for hair development and show both shared and unique traits in humans, chimpanzees, and baboons.
July 2023 in “British journal of dermatology/British journal of dermatology, Supplement” This study found that the E6 gene, but not E7, was responsible for HPV8-induced expansion of keratinocyte stem cells in hair follicle junctional zones in mice.
21 citations
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March 2015 in “Neurological Sciences” This study reports that a novel frameshift mutation in the HTRA1 gene in a CARASIL pedigree led to reduced HTRA1 protein and increased TGF-β1 expression, potentially causing severe CARASIL and peripheral small arterial disease.
15 citations
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January 1991 in “Mammalian Genome” 10 citations
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January 2020 in “Genes & Diseases” In this study, circ-Smad5 was found to inhibit the proliferation and cell cycle progression of JB6 cells by suppressing Wnt/β-catenin/Lef 1 signaling activation, marking the first report of its function.
January 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identified novel genetic variants in APOE ε4 non-carriers associated with Alzheimer's disease age-of-onset, linking them to regulatory mechanisms like the unfolded protein response in the pathology of Alzheimer's and other degenerative diseases.
September 2016 in “Journal of Dermatological Science” This study found that knockout mice lacking SMS1 showed reduced body weight and hair loss, indicating a role for SMS1 in normal growth and hair health.
This study found that Plakophilin 1 regulates innate immune responses in keratinocytes by controlling RNA helicase activity, balancing inflammation during epidermal immune challenges.
December 2021 in “OPAL (Open@LaTrobe) (La Trobe University)” This study found that BBS7 is crucial for maintaining Sonic hedgehog signaling activity and periodontal ligament homeostasis, with changes in gene expression observed in occlusal hypofunctional PDL.
1 citations
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August 2019 in “Journal of pediatric & adolescent gynecology” This report describes a novel AR gene mutation in a female patient, contributing to androgen insensitivity syndrome, and emphasizes its potential impact on genetic counseling.
3 citations
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February 2022 in “Frontiers in Genetics” This study found that overexpression of the lncRNA AC010789.1 in hair follicle stem cells may suppress androgen alopecia progression by modulating several molecular pathways, suggesting a potential new treatment strategy.
August 2019 in “Journal of Investigative Dermatology” This study found that the desmosomal protein desmoplakin is crucial for proper epidermal morphogenesis and radial intercalation in developing Xenopus embryos, affecting keratin organization and ectodermal structures.
6 citations
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April 2005 in “Journal of dermatological science” This study identified the expression sites of five KAP5 genes on human chromosome 11q13.5 in scalp skin sections but did not explore their detailed distribution within hair follicles.
29 citations
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October 2004 in “Differentiation” Multiple mouse desmoglein 1 isoforms have distinct roles in skin and hair development.
1 citations
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June 2025 in “Pigment Cell & Melanoma Research” This literature review reports that mutations in the SASH1 gene are linked to different pigmentation disorders, including dyschromatosis universalis hereditaria and lentiginosis. It further suggests SASH1's significant role in melanocyte processes and its potential as a target for developing treatments for these conditions.
66 citations
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December 1999 in “Journal of Investigative Dermatology” New mutations in the hairless gene may cause hair loss and affect bone development.
59 citations
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July 2015 in “Journal of Immunology” This study found that disrupting inflammasome signaling by eliminating caspase-1 and -11 in mice reduced skin inflammation and delayed the onset of disease, highlighting their role in skin disease pathogenesis.
May 2017 in “The journal of immunology/The Journal of immunology” This study reported that patients with specific Foxn1 mutations exhibited severe T-cell lymphopenia without the hair and nail abnormalities usually associated with these mutations.
1 citations
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October 2018 in “Bioscience reports” This study suggests that Annexin A2 isoform 2 might play a role in regulating the proliferation and growth of dermal papilla cells, potentially impacting the hair follicle growth cycle.
14 citations
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November 2024 in “International Journal of Molecular Sciences” This review summarizes existing evidence on how YAP and TAZ proteins are activated in epidermal keratinocytes and their role in coordinating with other signaling molecules to control transcription and influence epidermal cell fate, highlighting their importance beyond the Hippo pathway.