September 2022 in “European Journal of Dermatology” This study identified a novel pathogenic splice-site variant of the LAMB3 gene in patients with junctional epidermolysis bullosa, highlighting the importance of gene sequencing for diagnosis.
1 citations
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January 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study suggests that Dicer, but not Tarbp2, plays a crucial role in regulating the growth phase of hair follicles in bulge stem cells during post-natal development in mice.
September 2003 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” GLABRA2 gene controls root-hair growth by regulating phospholipid signaling.
November 2025 in “Journal of Investigative Dermatology” TEDAR is crucial for skin cell differentiation and barrier formation.
March 2025 in “Institutional Repositories DataBase (IRDB)” The testes significantly contribute to vitamin D metabolism and may affect male reproductive health and conditions like hair loss.
The research found that while Dnmt3a and Dnmt3b are not necessary for skin homeostasis in mice, the loss of Dnmt3a increases squamous tumor formation from carcinogens, and combined deletion of both results in more aggressive and metastatic tumors.
82 citations
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April 2008 in “Journal of Investigative Dermatology” EDA2R gene linked to hair loss.
117 citations
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April 2008 in “Developmental biology” This study identified that Eda-A1 unexpectedly induces placode inhibitors dkk4 and lrp4, indicating the importance of tightly regulated signaling for proper ectodermal organ development.
2 citations
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July 2021 in “UNC Libraries” This study suggests that residues Val-889 and Arg-752 in the androgen receptor's steroid binding domain are crucial for NH2-/carboxyl-terminal interaction, affecting receptor stability and function.
1 citations
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March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
January 2002 in “映像情報メディア学会技術報告” This study found that 60% of examined prostate tumors had new somatic substitutions in the SRD5A2 gene, affecting enzyme activity and potentially influencing prostate cancer progression.
April 2017 in “Journal of Investigative Dermatology” In this study, researchers demonstrated that the Id2 gene acts as a direct target and effector of BMP signaling, playing a key role in maintaining quiescence in hair follicle stem cells in vivo.
This study found that the enzyme encoded by Dgat1 acts as a retinol acyltransferase in murine epidermis, protecting against retinoid toxicity and alopecia by preventing retinol accumulation.
34 citations
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January 2016 in “Analytical Chemistry” This study reports that a new DART-HRMS method can effectively analyze intact hair for drug use timelines, with cocaine detection aligning with forensic standards and identifying multiple drugs from high-resolution data.
CaBP1 and CaBP2 are important for continuous hearing by preventing inactivation of calcium currents in ear cells, with CaBP2 also able to restore hearing when reintroduced.
208 citations
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November 2000 in “Development” This study found that while Eda and Edar proteins interact in vitro, their roles in dental development differ, with downless mutant mice showing distinct tooth defects compared to tabby mutants.
1 citations
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January 2020 in “Benha Journal of Applied Sciences” This study found that DEFB1 polymorphisms, specifically the rs1800972 CG and GG genotypes, may predict susceptibility to and severity of alopecia areata.
7 citations
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April 1996 in “Archives of dermatological research” This study found that after topical application in rats, 1,24-dihydroxyvitamin D3 absorbed through both the stratum corneum and hair follicles, with about 30% excreted via the faeces.
1 citations
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April 2023 in “Heliyon” In this study, a 68-year-old man with muscle-invasive bladder cancer and renal insufficiency achieved a partial radiological response to neoadjuvant therapy with gemcitabine and Disitamab Vedotin, without significant adverse events, highlighting a potential alternative for cisplatin-ineligible patients.
1 citations
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April 2025 in “Skin Health and Disease” This study is collecting real-world data to evaluate abrocitinib and conventional systemic treatments in moderate-to-severe atopic dermatitis across five European registers over a three-year period.
10 citations
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November 2017 in “Letters in drug design & discovery” This paper discusses a structure-based analysis to find new BRD4 inhibitors, identifying finasteride and amentoflavone as promising candidates for BET inhibition.
March 1998 in “Journal of dermatological science” Diphencyprone initially increases mouse hair growth, then slows it, possibly due to changes in specific protein levels.
1 citations
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July 2006 in “Journal of Investigative Dermatology” A 4kb fragment of the desmocollin 3 promoter targets gene expression to specific skin and hair follicle areas.
4 citations
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July 2020 in “Biochemical and Biophysical Research Communications” This study suggests that EDA-A2 induces apoptosis in hair follicles by increasing DKK-1 expression, implicating EDA2R signaling as a potential therapeutic target for androgenetic alopecia.
57 citations
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August 1997 in “Pediatrics International” This abstract discusses two types of hereditary vitamin D metabolism defects, VDDR I and VDDR II, and reports on their distinct characteristics and treatment responses, without presenting new clinical data.
3 citations
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January 2023 in “Science advances” This study found that ablation of Tet2/Tet3 genes in skin epithelial cells altered hair shape and length, leading to hair loss, by affecting chromatin accessibility and gene expression related to hair follicle regulation.
3 citations
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January 2021 in “Molecular genetics & genomic medicine” In this study, novel mutations in the BTD gene were identified in a patient with profound biotinidase deficiency, highlighting the importance of biotinidase activity measurement and mutation analysis for early diagnosis.
This study found that the Arabidopsis thaliana protein Formin 2 localizes to plasmodesmata and is crucial for regulating their permeability by anchoring actin filaments, which affects virus susceptibility.
8 citations
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June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study provides definitive evidence that a homozygous mutation in the DSC3 gene causes skin fragility and hypotrichosis in humans.
May 2023 in “Skin research and technology” This study found that WD-aptamer increased β-catenin expression and promoted human hair follicle dermal papilla cell proliferation by interfering with the CXXC5-Dvl1 interaction in the Wnt signaling pathway.