August 2026 in “International Journal of Developmental Neuroscience” In this report, researchers describe a 13-month-old with neurodevelopmental disorder NEDESBA, confirming a TRAPPC4 gene mutation as the cause after excluding biotinidase deficiency, highlighting the importance of molecular testing for accurate diagnosis in overlapping metabolic and genetic conditions.
14 citations
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February 2022 in “The Journal of clinical investigation/The journal of clinical investigation” This study found that the development of Merkel cell carcinoma from hair follicles in mice can be driven by in vivo reprogramming with ATOH1 and relies on p53 loss for progression.
41 citations
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October 2011 in “Clinical and Experimental Dermatology” This meta-analysis suggests that the G allele of AR StuI polymorphism might be a potential risk factor for AGA, particularly in white populations.
15 citations
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January 1991 in “Mammalian Genome” 23 citations
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December 2013 in “Molecular cancer therapeutics” This study found that AR-positive breast cancer cell lines are more sensitive to the dual PI3K/mTOR inhibitor NVP-BEZ235 compared to AR-negative cells.
143 citations
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May 2002 in “PubMed” This study found that the retinoid LGD1069 suppressed mammary tumorigenesis in a mouse model without observable toxicity, while TTNPB showed modest effects but was associated with significant toxicity.
5 citations
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June 2008 in “British Journal of Dermatology”
23 citations
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January 2014 in “International Journal of Biological Sciences” This study found that African American men with prostate cancer have higher rates of somatic and germline androgen receptor mutations than Caucasian American men, which may contribute to ethnic differences in disease progression and outcomes.
19 citations
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November 1993 in “Mammalian Genome” This study reports that transgene insertion in homozygous transgenic mice causes irreversible hair loss and impaired immune function, linked to interruption of the hairless locus on Chromosome 14.
60 citations
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August 2008 in “Human molecular genetics online/Human molecular genetics” This study suggests that a position effect disrupting TRPS1 expression may be linked to hypertrichosis in both Ambras syndrome in humans and a similar phenotype in Koa mice.
April 2016 in “Journal of Investigative Dermatology” This study found that in mutant NRAS melanoma, MEK inhibitors led to increased AKT signaling and reduced MIG6, a change that may enhance cell migration and invasiveness.
April 2016 in “Journal of Investigative Dermatology” Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that prostaglandin E2 pretreatment may reduce radiotherapy-induced alopecia by enhancing hair follicle self-repair through transient G1 arrest, suggesting a potential preventive treatment.
January 2026 in “Animal Genetics” This study investigated a Labrador Retriever with paw pad hyperkeratosis and identified a unique de novo heterozygous missense variant in the GJB6 gene, suggesting its potential role in the condition, analogous to Clouston syndrome in humans, although differences between species may provide further insights.
4 citations
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February 2023 in “Stem Cell Research & Therapy” This study found that papillary dermal fibroblast progenitors in newborn mouse skin can be isolated and cultured to generate male germline cell precursors, demonstrating their potential through differentiation into cells with meiotic capability.
November 2024 in “Journal of Investigative Dermatology” ATP-sensitive potassium channels are important for hair growth.
September 1999 in “Molecular Carcinogenesis” This study reported that overexpressing ornithine decarboxylase in C57Bl/6 mice increased their sensitivity to tumor promotion by TPA, a change reversible by doxycycline treatment.
1 citations
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June 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that in wild-type Arabidopsis plants, root hair growth is suppressed with increased nutrient availability, with RHD6 subfamily genes down-regulated and GTL1 and DF1 genes influencing root hair morphology under these conditions.
6 citations
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March 2018 in “The American journal of dermatopathology/American journal of dermatopathology” This study found that immunohistochemistry can effectively distinguish between tricholemmoma and basal cell carcinoma, with BerEP4 and CD34 serving as key differentiators.
6 citations
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January 2010 in “Neoplasma” In this study, researchers found that shorter CA repeats in the ERbeta gene are correlated with PSA expression, and PSA immunoexpression is associated with increased disease-free survival in breast cancer.
January 2026 in “Journal of Dermatological Treatment” This source discusses a Phase 2 trial by Hu et al. that evaluated the efficacy of topical GT20029 compared to a placebo, though the abstract does not provide specific results.
February 2023 in “International journal of molecular sciences” This study used infrared spectral imaging to show for the first time the distribution of glypican-4 and glypican-6 in hair follicles across different growth phases, highlighting the potential of this technique for studying alopecia.
January 2024 in “Wiadomości Lekarskie” In this study, researchers examined a patient with ZMYM2::FGFR1 fusion-positive leukemia, finding that Pemigatinib showed efficacy, while Ponatinib resistance was linked to a specific FGFR1 mutation. Other FGFR inhibitors demonstrated high effectiveness in ex vivo assays.
January 2016 in “Electronic Theses of LMU Munich (Ludwig-Maximilians-Universität München)” FDG PET/CT can improve cancer treatment plans in dogs.
25 citations
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August 2007 in “Molecular Therapy” This study found that using ectopic expression of CD24 is a promising approach for selecting genetically modified human epidermal stem cells for safe cutaneous gene therapy in cancer-prone conditions.
April 2008 in “Progrès en Urologie”
March 2025 in “International Journal of Molecular Sciences” This study established a Krt24-CreERT2 mouse line targeting outer bulge hair follicle stem cells, finding these cells crucial for hair follicle development and repair, particularly following ionizing radiation exposure.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that local PGE2 injection may prevent radiotherapy-induced hair loss by protecting hair follicle cells and promoting hair follicle self-repair.
April 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers identified a gene regulatory network in Arabidopsis that controls root hair growth under low-temperature conditions, revealing specific transcription factors and downstream targets that contribute to this growth response despite overall plant development being halted.
January 2026 in “American Journal of Medical Genetics Part A” The researchers reported two brothers with a new variant of X-linked trichothiodystrophy associated with an RNF113A gene mutation, highlighting features such as intellectual disability and growth failure, but without previously reported endocrinological or genital abnormalities, underlining the importance of genetic counseling for such variants.