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.
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.
June 2026 in “Frontiers in Oncology” In this study, researchers found that deficiencies in Gsdma1/2/3 significantly inhibited the initiation and progression of cutaneous squamous cell carcinoma (cSCC) in mice, suggesting GSDMA's role in promoting cSCC proliferation and its potential as a therapeutic target.
4 citations
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December 2016 in “Blood” This study describes a case of cyclic thrombocytopenia where a novel MPL gene mutation may contribute to the disease, with gene expression changes in platelet and neutrophil genes preceding platelet count fluctuations.
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.
2 citations
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January 2022 in “The Application of Clinical Genetics” This case report presents the first Russian patient with Meier-Gorlin syndrome 5, expanding clinical understanding through the identification of two novel CDC6 gene variants.
This study suggests that finasteride may upregulate BTG2 and CD244 gene expression through differential methylation, indicating potential as a treatment avenue for medulloblastoma.
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.
9 citations
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August 2013 in “Archives of Dermatological Research” This study concluded that the expression of clock genes, specifically BMAL1, in hair follicles is linked to circadian rhythm, and BMAL1 regulates hair growth.
18 citations
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January 2018 in “BMC dermatology” This paper describes a case of epidermolysis bullosa simplex with muscular dystrophy associated with a novel PLEC mutation and diffuse alopecia, highlighting a potential genetic link that remains uncertain.
5 citations
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January 2017 in “Arquivos Brasileiros de Oftalmologia” This report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with hypotrichosis and juvenile macular dystrophy, indicating a new genetic variant associated with the disorder.
87 citations
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March 2007 in “Biological Chemistry” In this study, targeted deletion of the stearoyl-CoA desaturase 1 gene in mice disrupted the epidermal lipid barrier, leading to increased water loss, impaired thermoregulation, and metabolic issues.
April 2019 in “Journal of Investigative Dermatology” This study identifies a mechanism where dsRNA activates TLR3 to induce RA production, promoting hair follicle regeneration in mice and suggesting a potential role in human tissue regeneration.
7 citations
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November 2010 in “Genesis” Mouse Scube3 affects teeth, tongue, vibrissae, and eye development, but not facial structure or limb growth.
August 2019 in “Journal of Invertebrate Pathology” This study observed that different alkaline buffers had a significant impact on the volume of liquid consumed by fall armyworm larvae, emphasizing the importance of measuring imbibed volumes to reduce dose errors in bioassays.
This study found that deleting the Mad2l1 gene in mice leads to rapid onset of acute lymphoblastic leukemia and liver cancer due to induced chromosomal instability.
December 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” In a mouse model study, researchers observed that the absence of MCPIP1 in myeloid cells decreased susceptibility to chemically induced skin papillomas but caused significant hair loss and skin pigmentation changes, suggesting a role for MCPIP1 in skin carcinogenesis and follicle integrity.
88 citations
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July 2008 in “Development” This study shows that BMP2 and BMP7 play complex, necessary roles in feather development by regulating dermal condensation formation, with BMP7 acting early as a chemoattractant and BMP2 halting cell migration.
December 2025 in “International Journal of Surgery” In this study, researchers identified a causal link between Epstein-Barr virus infection and clear cell renal cell carcinoma, highlighting GBP1 as a key target and suggesting finasteride as a potential inhibitor, offering a new direction for treatment strategies.
30 citations
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June 2016 in “Journal of Human Genetics” This study found pathogenic mutations in genes EDA, EDA1R, and EDARADD in 101 out of 124 hypohidrotic ectodermal dysplasia patients, revealing 23 novel mutations and indicating genetic variability.
12 citations
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March 2013 in “The American journal of dermatopathology/American journal of dermatopathology” This article reports on three new cases of Birt–Hogg–Dubé Syndrome and emphasizes the role of genetic analysis in its diagnosis due to clinical challenges.
February 2026 in “Toxicology Letters” This study used an in silico/in vitro approach to identify potential inhibitors of the enzyme SRD5A2, finding that the androgen receptor modulator MK-0773 is a moderate inhibitor, although it does not act as a covalent inhibitor like finasteride.
5 citations
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March 2019 in “Journal of lipid research” This study reports new fluorogenic ceramidase substrates and highlights RBM14C24:1 as an efficient substrate for neutral ceramidase, while RBM15C18:1 is the best probe for measuring ACER1 and ACER2 activities, potentially aiding high-throughput screening for ceramidase inhibitors.
166 citations
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November 2008 in “Expert Review of Endocrinology & Metabolism” This review discusses biotin and biotinidase deficiencies, their symptoms, and methods of medical management, without presenting new clinical findings.
30 citations
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August 2005 in “British journal of dermatology/British journal of dermatology, Supplement” This study identified a novel CDH3 mutation associated with sparse hair and pigmentary macular changes in two siblings with hypotrichosis but no visual symptoms.
324 citations
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May 2002 in “Oncogene” 92 citations
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September 2013 in “Journal of Investigative Dermatology” This study found that peripheral clock genes, particularly BMAL1 and Period1, modulate human hair follicle cycling, suggesting their potential as therapeutic targets for affecting hair growth.
June 2023 in “Journal of biological chemistry/The Journal of biological chemistry” This study on Sdr16c5/Sdr16c6-null mice found that inactivating these genes significantly increased Meibomian gland secretions and altered lipid profiles but had a subtle impact on sebogenesis, suggesting the genes control a bifurcation point in meibogenesis pathways.
1 citations
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November 2002 in “Journal of dermatology” This study investigated the histogenetic relationship between basal cell carcinoma and hair follicles, revealing specific staining patterns of a monoclonal antibody in different skin tissues.
166 citations
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September 2011 in “The Journal of Cell Biology” This study found that the p63 transcription factor plays a role in epidermal morphogenesis by regulating Satb1 expression, impacting chromatin architecture and gene expression in epidermal progenitor cells.