845 citations
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February 2001 in “The Journal of Clinical Endocrinology & Metabolism” This study identified the presence of the enzyme 1 alpha-hydroxylase in various extrarenal tissues, suggesting its potential role in modulating vitamin D function in peripheral tissues.
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.
23 citations
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January 2017 in “BMC Medical Genetics” This study presents the first reported Spanish case of Hypotrichosis with Juvenile Macular Dystrophy, identifying a new CDH3 mutation and highlighting the importance of clinical and genetic evaluation for accurate diagnosis.
15 citations
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January 1991 in “Mammalian Genome” In this study, conditional inactivation of the Mad2l1 SAC gene in mice led to aggressive and lethal acute lymphoblastic leukemia and hepatocellular carcinoma, demonstrating a link between chromosomal instability and cancer development.
May 2022 in “Experimental dermatology” In this study, hair shafts from trichothiodystrophy patients with ERCC2 mutations revealed abnormal cuticle structures and protein imbalances compared to normal hair shafts.
March 2026 in “The Journal of Steroid Biochemistry and Molecular Biology” This study found that mice lacking both vitamin D and calcium-sensing receptors in epidermal keratinocytes are predisposed to developing squamous cell carcinoma as they age, due to impaired oxidative stress response and reduced DNA repair capabilities.
This study found that activation of delta-opioid receptors in keratinocytes may delay the expression of the PER2 gene, suggesting a possible link to cancer development through circadian rhythm disruption.
April 2026 in “Human Genome Variation” In this study, researchers identified a recurrent MBTPS2 splice-site variant as a mutational hotspot in IFAP syndrome across diverse families, with phenotype severity suggesting the influence of additional modifiers.
22 citations
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September 2003 in “Journal of Investigative Dermatology” This study analyzed patients with X-linked dominant chondrodysplasia punctata and identified novel mutations in the emopamil-binding protein gene, highlighting the need for genetic testing alongside biochemical analysis for accurate diagnosis.
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that genetic ablation of Tet genes in mice led to changes in hair structure and keratin gene expression, indicating a role for Tet-mediated 5hmC DNA oxidation in hair follicle development and cycling.
July 2025 in “Journal of Investigative Dermatology” TRIV-509 quickly improves skin barrier and cell health in atopic dermatitis.
June 2026 in “Eurasian Journal of Medicine” Baricitinib effectively regrew hair in a woman with alopecia universalis after other treatments failed.
10 citations
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December 2017 in “Chemosphere” In this study, BPA rapidly increased dendritic spine and synapse densities in cultured rat hippocampal neurons, with involvement of estrogen receptors and ERK1/2 and p38 pathways, but disrupted dihydrotestosterone's effects on synaptic plasticity.
58 citations
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March 2006 in “Current topics in medicinal chemistry” This review describes how dutasteride, a dual 5alpha-reductase inhibitor, has improved outcomes in benign prostatic hyperplasia and is being studied for prostate cancer prevention, without new data reported.
April 2024 in “Journal of asthma and allergy” This case report describes a 12-year-old boy with severe atopic dermatitis and comorbid alopecia areata who experienced complete hair regrowth and improved skin condition after 3 months of oral abrocitinib treatment, with no adverse reactions observed during a 1-year follow-up period.
16 citations
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April 1978 in “Genetics Research” This study found that asebic mice exhibit abnormal sebaceous gland differentiation and insufficient sebum production due to defective regulation of cell processes, despite possessing normally developing sebaceous glands initially.
1 citations
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September 2023 in “Dermatology and Therapy” In this phase 3 trial analysis, baricitinib improved scalp hair growth in adults with severe alopecia areata, with a faster and higher response in those receiving 4 mg compared to 2 mg, but response varied with severity at baseline and continued through week 52.
1 citations
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April 2017 in “Journal of Investigative Dermatology” Abatacept may help some people with alopecia areata regrow hair.
January 2026 in “Biomaterials” 124 citations
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November 2000 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that human peptidylarginine deiminase type III is the predominant isoform in hair follicles and may modulate structural proteins during hair and hair follicle formation.
2 citations
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May 2023 in “Journal of Advanced Research” In this study, researchers identified two genetic mutations associated with producing finer and denser wool in fine-wool sheep, involving the genes KRT74 and EDAR, which may guide future breeding efforts to enhance wool quality.
249 citations
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May 2003 in “Developmental Biology” Ectodysplasin-A1 is crucial for developing hair, teeth, and glands.
1 citations
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July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” In this open-label trial, Tofacitinib was well tolerated and improved IFN and cytokine scores, as well as overall skin pathology, in individuals with Down syndrome and immune skin conditions.
98 citations
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June 2008 in “Human mutation” This study found that a genetic variant in the EDAR gene leads to typical East Asian hair characteristics by increasing signaling output, as shown in transgenic mice experiments.
September 2024 in “Journal of the American Academy of Dermatology” In this study, patients with severe alopecia areata treated with baricitinib over 152 weeks experienced sustained patient-reported improvements in scalp, eyebrow, and eyelash hair regrowth, with higher responders observed in the 4mg dose group compared to the 2mg group.
1 citations
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November 2025 in “Clinical Chemistry and Laboratory Medicine (CCLM)” This study developed a new measurement procedure using isotope dilution-liquid chromatography-tandem mass spectrometry for accurate quantification of DHEAS in human serum or plasma, demonstrating high selectivity, sensitivity, and low measurement uncertainty, making it suitable for routine standardization and clinical evaluation.
26 citations
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March 1995 in “Differentiation” This study isolated and sequenced the complete gene rKAP4L1, which encodes a cysteine-rich hair keratin-associated protein in rabbit hair follicles.
November 2025 in “SKIN The Journal of Cutaneous Medicine” In this phase 3 trial, baricitinib showed effectiveness and safety in both adolescents and adults with severe alopecia areata, with adolescents achieving higher response rates despite more severe baseline conditions, suggesting the advantages of early treatment.
June 2026 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that inhibiting the interaction between HOTAIR and EZH2 can block pro-fibrotic gene expression in fibroblasts and interfere with tissue remodeling in systemic sclerosis patient skin.