36 citations
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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.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that conditional deletion of CD271 in mouse epidermis led to significant disorganization and increased thickness, suggesting CD271's crucial role in regulating skin differentiation and structure.
1 citations
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November 2024 in “Diabetes Metabolic Syndrome and Obesity” In this study, researchers found that a specific genetic variant in the INSR gene is linked to severe insulin resistance and hyperandrogenemia in type A insulin resistance syndrome, suggesting the benefit of exon sequencing for accurate diagnosis and treatment.
4 citations
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September 2024 in “Development” This study investigated transcription factors in human trophectoderm cells during development, finding that GATA2 and GATA3 are essential for transforming stem cells into induced trophoblast stem cells, which display characteristics similar to placental progenitor cells, offering new methods for modeling placental-associated diseases.
37 citations
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August 2011 in “Journal of Bone and Mineral Research” This study reported a case of hereditary vitamin D–resistant rickets caused by a single heterozygous missense mutation in the VDR gene, showing dominant-negative effects and reduced response to 1,25-dihydroxyvitamin D3.
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.
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.
10 citations
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July 2015 in “Clinical and Experimental Dermatology” The authors reported a possible association between the use of etanercept and the development of trichorrhexis nodosa, a hair shaft disorder, in a patient without apparent external causes.
1 citations
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December 2019 in “Canadian journal of ophthalmology” This study presents a case of a pubertal girl with type 1 diabetes who developed proliferative diabetic retinopathy shortly after diagnosis, suggesting the need for earlier screening in high-risk groups.
February 2024 in “Journal of medicinal food” This study reports that the β-catenin inhibitor tegatrabetan reduced hair growth and hair follicle numbers in mice, suggesting its potential as a model for developing new hair growth materials.
February 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that tissue damage in adult mice triggers the release of mitochondrial DNA, which activates the TLR9 pathway and influences hair regeneration by recruiting gamma delta T cells, ultimately affecting healing outcomes such as fibrosis.
August 2012 in “Nature Cell Biology” This study provides direct evidence that the Wnt-β-catenin pathway promotes TERT expression in stem and cancer cells, linking tumorigenesis with pluripotency.
July 2026 in “Journal of Investigative Dermatology” 8 citations
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June 2001 in “Journal of Biological Chemistry” This study found that the truncated hHb1-DeltaN transcript in breast cancer cells is produced by a cryptic intron promoter and responds to DNA demethylation, potentially altering cancer cell adhesion.
7 citations
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June 2011 in “Movement Disorders” A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
2 citations
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June 2024 in “Parasites & Vectors” This study provides insights into how chronic T. gondii infection might affect testicular tissue and suggests a potential impact on male fertility.
6 citations
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February 2022 in “The journal of neuroscience/The Journal of neuroscience” This study observed that deleting PTEN in mouse facial motoneurons enhanced peripheral axon regeneration but also led to physiological changes and potential hyperplasia in older mice.
March 2025 in “International Journal of Trichology” This case study reported that a 15-year-old female developed acquired localized trichorrhexis nodosa, a hair shaft disorder, due to vigorous rubbing of an herbal powder on her scalp as part of local cultural practices.
19 citations
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June 2020 in “BMC Cancer” This study reported that genetic changes in trichilemmal carcinoma resemble those in other skin cancers, with TP53 mutations associated with aggressive clinical outcomes.
September 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” The researchers reported that TGM2 appears to play a crucial role in sebocyte differentiation and may act as a negative regulator of lipid metabolism in sebaceous glands.
September 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a germline variant in PLCD1 as a major risk allele for familial trichilemmal cysts, requiring a subsequent somatic mutation in the same allele for cyst formation.
103 citations
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January 2011 in “Blood” This study found that thymus transplantation in infants with FOXN1 deficiency led to T-cell reconstitution and functional immunity, resolving serious infections and cytopenias.
10 citations
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September 2015 in “PLoS ONE” This case report documents a female toddler with novel compound heterozygous mutations in the VDR gene causing hereditary 1,25-dihydroxyvitamin D-resistant rickets, expanding the known mutation spectrum for this disease.
May 2005 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” In this study, transgenic mice with a truncated latent transforming growth factor-beta-binding protein showed reduced keratinocyte proliferation and alterations in the hair cycle due to mis-localization of transforming growth factor-beta.
60 citations
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July 2018 in “Circulation” This study found that hypogonadism in men can be a reversible risk factor for torsades de pointes (TdP), with testosterone replacement potentially preventing TdP recurrence.
85 citations
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August 2015 in “Journal of Applied Genetics” This review discusses recent insights into the molecular mechanisms of hypohidrotic ectodermal dysplasia linked to TNFα-related signaling pathway mutations but reports no new experimental results.
In this study, deleting the -catenin gene in vitamin D receptor-null mice did not prevent tumor development, suggesting -catenin's predicted protective role was not observed.
July 2025 in “Journal of Investigative Dermatology” TRIV-509 quickly improves skin barrier and cell health in atopic dermatitis.
18 citations
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January 2008 in “Journal of The American Academy of Dermatology” This study found that the proteins GDNF, NTN, GFRα-1, GFRα-2, and c-Ret are differentially expressed during various stages of the human hair follicle cycle, with potential implications for hair biology.
23 citations
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January 2015 in “Journal of The American Academy of Dermatology” This study found that patients with myotonic dystrophy type 1 had higher numbers of nevi, dysplastic nevi, melanomas, and pilomatrixomas compared to age- and sex-matched controls.