13 citations
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July 2019 in “PLoS ONE” This study found that deleting podoplanin in mouse keratinocytes promoted hair follicle growth during regeneration, suggesting it may regulate hair cycling pathways that could aid in treating hair loss conditions.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
2 citations
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January 1993 This study found that human trichohyalin has a unique protein sequence potentially contributing to at least three important functions in hair follicle and epidermal cells.
38 citations
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February 2012 in “British Journal of Dermatology” This study suggests that the AR/EDA2R locus may contribute to early-onset female pattern hair loss, but no association was found with the 20p11 locus.
September 2026 in “British Journal of Dermatology” This study identified 11 genes associated with non-syndromic hereditary hypotrichosis in a Chinese cohort and proposed a preliminary framework for phenotype-driven candidate-gene prioritization to aid clinical evaluation.
June 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” This research found that the microtubule catastrophe factor KIF18B plays a crucial role in promoting spindle orientation in keratinocytes, linking this process to cell fate decisions during hair follicle morphogenesis.
January 2011 in “Journal of Human Genetics” This study found a severe MBTPS2 gene mutation in a Japanese IFAP syndrome patient, suggesting other factors may influence the syndrome's clinical features compared to previously studied patients.
28 citations
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July 2007 in “Development” In this study, inactivating the TAF4 subunit of transcription factor TFIID in mouse epidermis disrupted gene expression linked to skin and hair function, and increased tumor risk.
80 citations
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November 2017 in “New Phytologist” In this study, the researchers used the dual-flow-RootChip to show that Arabidopsis roots can locally adapt their hair development in response to asymmetric phosphate conditions.
81 citations
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November 2012 in “Journal of the National Cancer Institute” This study found that FLCN deficiency in mice muscles led to increased mitochondrial biogenesis and a metabolic shift towards oxidative phosphorylation, with a similar advantage observed in FLCN-null kidney cancer cells.
September 2017 in “Journal of Investigative Dermatology” This study found that stabilizing HIF1A in hair follicle cells promoted a shift to glycolysis, potentially reducing oxidative stress and promoting hair growth, particularly in balding dermal papilla cells.
26 citations
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June 2003 in “PubMed” In this study, severe hair loss occurred in PKC epsilon transgenic mice treated with DFMO during skin tumor prevention, highlighting a link between polyamine biosynthesis, hair follicle maintenance, and metastasis suppression.
January 2025 in “Open Life Sciences” This study observed that transgenic mice with overexpression of HE4 developed keratitis and severe corneal opacity, suggesting that HE4 may significantly influence keratopathy and inflammatory responses in the eye.
33 citations
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May 2006 in “Journal of Investigative Dermatology” This study found that high levels of parathyroid hormone-related protein expression can result in the production of shorter hair shafts, likely through effects on angiogenesis.
181 citations
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January 2009 in “Nature Genetics” In this study, researchers linked defects in U2HR, an inhibitory region in the HR gene, to Marie Unna hereditary hypotrichosis, suggesting a mechanism for controlling hair growth and addressing hair loss.
April 1996 in “Journal of Dermatological Science” 1 citations
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July 2007 in “Journal of Investigative Dermatology” The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.
July 2026 in “JAAD reviews.” Female Pattern Hair Loss affects women's quality of life, with limited treatment options and a need for more research.
May 2009 in “OPAL (Open@LaTrobe) (La Trobe University)” In this study, a transgenic mouse model suggested that suppressing the expression of the HGPS mutation may reverse disease symptoms, including skin abnormalities, supporting the potential for treatment development.
15 citations
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January 1991 in “Mammalian Genome” This study identified a 14,883 bp genomic deletion affecting the Plcd1 and Vill genes as likely responsible for the abnormal phenotype observed in snthr-1Bao mice.
8 citations
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March 2014 in “American Journal of Pathology” This study found that hairless mice with homozygous mutations developed significantly more aggressive basal cell carcinomas and a heightened inflammatory response to UVB exposure compared to their haired littermates.
May 2025 in “Science Advances” In this study, researchers reported that hair follicle stem cells maintain quiescence through a PIEZO1-dependent mechanism that senses mechanical forces and translates them into localized calcium influx, involving a transcriptional network that regulates cell adhesion and cytoskeleton-related genes.
16 citations
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May 2000 in “Endocrinology” This study identified a new gene, mrp4, in mice, which suggests it may have a unique role in the growth and development of hair follicles in the ears and tails.
59 citations
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November 2011 in “Development” This study found that the transcription factor Trps1 acts as a novel regulator of the Wnt signaling pathway and early hair follicle progenitors in developing vibrissa follicles in mice.
135 citations
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October 1997 in “Journal of biological chemistry/The Journal of biological chemistry” This study suggests that trichohyalin is modified by peptidyl-arginine deiminase before being cross-linked by TGase 3, allowing the formation of rigid structures in hair follicle cells.
93 citations
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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.
April 2026 in “Human Genome Variation” This study identified a specific hemizygous intronic variant in the MBTPS2 gene associated with IFAP syndrome in a patient, revealing exon skipping and reduced normal transcript expression through long-read RNA sequencing.
14 citations
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May 2016 in “International Journal of Molecular Sciences” This study showed that knocking out the Ppp2ca gene in the epidermis of mice led to significant hair loss and disrupted hair follicle morphogenesis and regeneration.
1 citations
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December 2012 in “Journal of Dermatological Science” FGF18 controls hair growth rest phase.