April 2019 in “Endocrinology and Metabolism Clinics of North America” Inclusive and affirming healthcare is essential for improving transgender individuals' quality of life and health.
January 2012 in “Else Kröner-Fresenius Symposia” This symposium reported that DNA damage accumulation in aging stem cells affects genome integrity, highlighting novel mechanisms like Bmi1's role in DNA repair and the involvement of BATF in lymphoid differentiation.
February 1938 in “Journal of the American Medical Association” This abstract contains no research results but appears to be a web navigation or user interface message.
January 2020 in “Química Nova” This study used Density Functional Theory-based computational methods to analyze finasteride's molecular properties, finding that the GGA/PW91 method closely matches experimental data for vibrational frequencies and geometric parameters.
This study suggests that targeting the increased expression of SIX1 in systemic sclerosis may be a viable strategy for addressing dermal fibrosis.
4 citations
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December 2021 in “Journal of clinical laboratory analysis” This study identified a splicing-site deletion in the DCAF17 gene associated with Woodhouse-Sakati syndrome in a large consanguineous pedigree, leading to typical phenotypic features.
54 citations
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February 2002 in “Carcinogenesis” This study suggests that activation of polyamine catabolism in K6-SSAT transgenic mice may significantly increase skin tumor development and progression to carcinomas following chemical induction.
14 citations
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September 1999 in “Mammalian genome” In this study, researchers generated a mouse mutation called scraggly, related to hair and skin defects, and mapped it to a genetic location on mouse Chromosome 19 distinct from similar mutations.
September 2016 in “Journal of Dermatological Science” This study found that knockout mice lacking SMS1 showed reduced body weight and hair loss, indicating a role for SMS1 in normal growth and hair health.
305 citations
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March 2008 in “AJP Endocrinology and Metabolism” This article reviews the regulation and roles of spermidine/spermine-N(1)-acetyltransferase (SSAT) in polyamine metabolism and its potential as a target in cancer and other diseases, without reporting new experimental results.
July 2026 in “Pediatric Allergy and Immunology”
13 citations
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November 2012 in “PLoS ONE” This study identified a novel recessive mutation in mice causing lethal congenital lamellar ichthyosis, with skin and hair follicle alterations similar to human congenital ichthyoses, linked to a specific genetic defect affecting Fatp4.
12 citations
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July 2004 in “Molecular genetics and genomics” This study identifies a new mutation in the Scd1 gene in a strain of Kunming mice, causing skin and hair defects with the mildest impact among similar mutations.
72 citations
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June 2001 in “Journal of Investigative Dermatology” This study suggests that S100A4 and S100A6 proteins may play key roles in activating stem cells for hair follicle regeneration in mice.
November 2022 in “Journal of Investigative Dermatology” This study reported that an HS-associated NCSTN mutation in iPSC-derived skin organoids led to altered hair follicle stem cell differentiation and increased expression of proteins linked to HS inflammation.
March 2026 in “Mendeley Data” In this study, researchers developed an open-source browser-based tool to enhance the reproducibility and accuracy of SALT score calculations from scalp photos, aimed particularly at assessing partial regrowth in alopecia areata patients on JAK inhibitor therapy.
1 citations
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September 2021 in “Frontiers in genetics” This case report identifies a previously undocumented nonsense mutation in DCAF17 in a Chinese patient with Woodhouse-Sakati syndrome, inherited from consanguineous parents.
September 2017 in “Journal of Investigative Dermatology” This study found that the expression levels of Siah1 and Siah2 in mice skin vary dynamically during postnatal hair follicle development, suggesting their specific roles in modulating the HIF pathway.
December 2025 in “Biomolecules” This study reviews the emerging role of protein S-palmitoylation in dermatology, highlighting its impact on skin functions like inflammation and barrier maintenance, and evaluating its potential as a therapeutic target for skin disorders such as alopecia and psoriasis.
April 2023 in “Journal of Investigative Dermatology” This study found that LSD1 is crucial for embryonic skin barrier formation in mice, revealing its significant role in epidermal development and suggesting its potential as a target in skin diseases with barrier defects.
January 2016 in “Zurich Open Repository and Archive (University of Zurich)” This study concludes that dietary L-serine supplementation shows promise as a long-term therapy for hereditary sensory and autonomic neuropathy type 1, reducing neurotoxic 1-deoxysphingolipid levels and improving symptoms in severe cases.
179 citations
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June 2000 in “The American journal of pathology” This study reports that the asebia-2J mutation in mice affects sebaceous gland function and leads to hair follicle destruction, offering a model for human scarring alopecias.
324 citations
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May 2002 in “Oncogene”
April 2024 in “The journal of investigative dermatology/Journal of investigative dermatology” In this mouse model study, researchers found that deleting the ASH2L gene in epidermal progenitor cells led to thinner epidermal layers, delayed hair follicle development, and reduced epidermal stem cell pools, with alterations in genes related to hair follicle development and the Notch signaling pathway.
This case report describes a 33-year-old Kashmiri woman with Woodhouse-Sakati syndrome who has a rare DCAF17 gene mutation, c.321+1G>A, providing further evidence for its role in the genetic basis of this neuroendocrine disorder.
48 citations
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November 2002 in “Journal of biological chemistry/The Journal of biological chemistry” In this study, researchers found that size polymorphisms in certain hKAP1 genes are linked to the hKAP1.1B and hKAP1.3 genes, arising from intragenic deletions and duplications in Japanese and Caucasian populations.
March 2026 in “Mendeley Data” This tool was developed to enhance reproducibility and sensitivity in measuring partial hair regrowth in alopecia areata patients, particularly those undergoing JAK inhibitor therapy, using scalp photographs.
6 citations
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June 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed that the SREBF1 mutation c.1669C>T (p.Arg557Cys) may act as a recurrent hotspot mutation associated with both hereditary mucoepithelial dysplasia and autosomal-dominant ichthyosis follicularis with atrichia and photophobia syndrome, suggesting they may be on the same clinical spectrum.
66 citations
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March 2016 in “Nucleic Acids Research” This study found that Musashi-2 regulates mRNA targets to restrict epithelial cell migration, revealing a key function of Msi2 beyond its known role in promoting cell growth.
11 citations
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December 2017 in “Orphanet Journal of Rare Diseases” This study found a previously unreported ST14 gene mutation in a patient with ichthyosis-hypotrichosis syndrome, highlighting novel skin and hair characteristics and emphasizing the critical role of the Asp482 amino acid in matriptase activation.