36 citations
,
March 2011 in “Nature Communications” This study found that TSC2-null fibroblast cells from TSC skin hamartomas can induce hair follicle formation and hamartomatous changes in keratinocytes, with active mTOR signaling observable in a mouse xenograft model.
8 citations
,
March 2015 in “International Journal of Oncology” This study successfully established Tsc2-deficient embryonic stem cells from Eker rats and found these cells have distinct gene expression compared to non-mutant cells, which could help identify new therapeutic targets for TSC-related pathogenesis.
3 citations
,
August 2022 in “International Journal of Molecular Sciences” This study demonstrated that 5-azacytidine treatment may reduce TSC lesion-related hair follicles in mice, suggesting chromatin remodeling agents could be effective for tuberous sclerosis cutaneous lesions lacking tuberin.
1 citations
,
March 2021 in “Journal of Investigative Dermatology” Sirolimus can reduce tumor cell size in TSC-related skin tumors, but continuous treatment is needed to maintain benefits.
July 2024 in “Journal of Investigative Dermatology” This study found that topically applied melatonin exerts significant anti-aging effects on human scalp skin ex vivo, including increased SIRT1 expression and reduced mTORC1 pathway activity.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study in mice suggests that defects in hair follicles with mesenchymal TSC2 disruption may result from an impaired TGFβ1 response, indicating a potential novel treatment approach for tuberous sclerosis complex.
September 2016 in “Journal of dermatological science” This study identified TSC2 as an important regulator of hair follicle morphogenesis and patterning, with Tsc2cKO mice showing altered hair patterns and frequencies compared to controls.
January 2026 in “Biomolecules” This review suggests that the TSC22D family genes may influence metabolism and cancer, potentially serving as a therapeutic target for conditions like diabetes, obesity, and certain tumors, depending on the tumor environment.
12 citations
,
May 2023 in “EMBO reports” In this study with organ-cultured human scalp hair follicles, high mTORC1 activity correlated with gray/white hair and reduced pigmentation, while inhibiting mTORC1 with rapamycin increased hair growth and pigmentation, suggesting mTORC1 inhibition could be a strategy for treating hair depigmentation and loss.
1 citations
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April 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that inhibiting mTORC1 activity with rapamycin increased both hair growth and pigmentation in human scalp hair follicles, suggesting a potential strategy for treating greying and hair loss.
March 2026 in “Voprosy dermatologii i venerologii/Dermatologiâ ža̋ne veneralogiâ ma̋selelerì” This literature review highlights the critical importance of early dermatological diagnosis of tuberous sclerosis, focusing on its genetic basis, dermatological markers, and the role of genetic testing and multidisciplinary support, while discussing treatment options like mTOR inhibitors and their limitations.
June 2024 in “Current Developments in Nutrition” This study found that a nutritional intervention in dogs led to changes in skin microbiome and immune-related gene expression, with reduced levels of certain fungal pathogens and a potential alleviation of atopic dermatitis symptoms.
November 2022 in “Journal of Investigative Dermatology” In this study, rapamycin was found to increase hair follicle pigmentation and prolong anagen duration in cultured human scalp hair follicles, suggesting it could be explored as an anti-greying agent.
June 2024 in “Current Developments in Nutrition” This study found that a nutritional intervention in dogs can alleviate atopic dermatitis symptoms by modulating immune responses and altering skin microbiome composition, which includes reducing fungal diversity and the abundance of pathogenic species such as Malassezia pachydermatis.
12 citations
,
February 2014 in “PLoS ONE” This study observed high expression of mTOR pathway effectors in fibrous papules and TSC-associated angiofibromas, suggesting that topical rapamycin might be an effective treatment for fibrous papules.
11 citations
,
May 2015 in “Stem Cells Translational Medicine” This study found that megestrol acetate increases the proliferation, migration, and adipogenic differentiation of adipose-derived stem cells through glucocorticoid receptor phosphorylation.
In this study, researchers found that the health state utility of moderate facial angiofibroma in Tuberous Sclerosis Complex patients is significantly lower compared to almost-clear facial angiofibroma, indicating that treatment for the condition can substantially improve quality of life.
August 2018 in “Pediatric Dermatology” This case report describes a unique instance of an otherwise healthy infant with phylloid terminal hair nevus, a form of hypomelanosis without extracutaneous abnormalities.
295 citations
,
September 2006 in “Cell Cycle” This review discusses the role of the TOR pathway in aging and suggests that rapamycin could potentially target age-related diseases, but reports no new clinical results.
161 citations
,
August 2013 in “Journal of experimental botany” This study found that specific ATP-competitive TOR inhibitors (asTORis) decrease root growth in Arabidopsis thaliana in a dose-dependent manner, similar to their effects on mammalian cells.
94 citations
,
June 2016 in “The FASEB Journal” This review discusses the dual role of the Wnt/β-catenin pathway in mammalian tissue injury, highlighting its potential for both promoting regeneration and contributing to fibrosis, but presents no new findings.
81 citations
,
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.
72 citations
,
November 2012 in “PloS one” This study found that dysregulation of the folliculin-p0071 interaction may lead to changes in cell adhesion and signaling, contributing to conditions like emphysema and renal cell carcinoma.
64 citations
,
July 2016 in “Cold Spring Harbor Perspectives in Medicine” The p53 protein has complex, sometimes contradictory functions, including tumor suppression and promoting cell survival.
52 citations
,
September 2020 in “Cell Death and Disease” This study found that impaired autophagy plays a role in sonic hedgehog pathway-induced endometrial fibrosis, suggesting it as a potential target for treating intrauterine adhesion.
51 citations
,
August 2013 in “Journal of Investigative Dermatology” This study demonstrated that cultured human dermal papilla cells can induce full hair follicle formation when combined with neonatal foreskin keratinocytes in a grafted dermal-epidermal construct on mice.
50 citations
,
April 2014 in “Nature Communications” This study analyzed skin from 538 knockout mouse mutants and identified 50 with epidermal phenotypes, providing valuable insights into genetic conditions and systemic effects related to skin abnormalities.
42 citations
,
February 2021 in “Signal Transduction and Targeted Therapy” This review discusses potential cell sources and bioengineering strategies for regenerating hair follicles with functional cycling, reporting no new results.
38 citations
,
June 2015 in “Expert Opinion on Therapeutic Targets” This review explores potential indications for prolactin receptor inhibitors beyond breast and prostate cancers, emphasizing the need for potent antibodies to further research prolactin receptor expression.
31 citations
,
July 2015 in “Clinical, Cosmetic and Investigational Dermatology” This article discusses the challenges and possible solutions in hair restoration surgery, focusing on donor hair availability, hair survival, and concealing surgical evidence, and reports no new clinical results.