39 citations
,
September 2018 in “American Journal of Medical Genetics Part A” This case report describes a 32-month-old girl with a newly identified pediatric disorder linked to a de novo mutation in the ODC1 gene, mirroring symptoms seen in a transgenic mouse model.
28 citations
,
November 2018 in “American Journal of Medical Genetics Part A” This report describes a neurometabolic disorder linked to gain-of-function variants in the ODC1 gene, characterized by developmental delay, ectodermal abnormalities, and notable facial and neuroimaging features.
15 citations
,
June 2019 in “Biochemical Journal” This study identified a heterozygous de novo mutation in the ODC1 gene causing a new disorder characterized by overgrowth and developmental delay, and suggests that DFMO treatment may help manage elevated ODC activity and putrescine levels.
11 citations
,
September 2021 in “American Journal of Medical Genetics Part A” This study reports that newly diagnosed patients with Bachmann-Bupp syndrome exhibit a broader phenotype than previously documented, including late-onset seizures, and suggests a possible universal biochemical mechanism involving elevated ODC activity.
1 citations
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April 2025 in “American Journal of Medical Genetics Part C Seminars in Medical Genetics” The researchers reported that repurposing the drug eflornithine may offer a treatment option for Bachmann-Bupp Syndrome, highlighting a potential model for other rare diseases.
July 2023 in “Developmental medicine and child neurology/Developmental medicine & child neurology” This study found that patients with Bachmann-Bupp syndrome treated with DFMO showed improvements in hair growth, muscle tone, and development.
4 citations
,
May 2020 in “PLOS ONE” This study found that ingenol mebutate treatment led to gene expression changes in actinic keratoses, with complete lesion clearance in 40% of patients and identified genetic markers potentially predicting treatment response.
107 citations
,
August 2012 in “Seminars in Cell & Developmental Biology” This review discusses the role of signaling networks in sebaceous gland development and disorders, highlighting recent insights from mouse models and cell line studies, but reports no new experimental results.
30 citations
,
July 2010 in “Experimental Dermatology” This article reviews the role of polyamines in hair follicle growth and discusses potential therapeutic applications but provides no new clinical results.
12 citations
,
April 2014 in “Molecular Medicine Reports” In this study, transcriptome analysis identified 68 differentially expressed miRNAs in human dermal papilla cells treated with hydrogen peroxide, suggesting they play a significant role in growth arrest and apoptosis.
1 citations
,
May 2017 in “InTech eBooks” This chapter reviews signaling pathways related to androgenic alopecia in dermal papilla cells of balding human scalps, integrating published information and analysis of molecular interactions, without reporting new clinical results.
8 citations
,
July 2022 in “International Journal of Molecular Sciences” This study found that in estrogen receptor-positive breast cancer cells, 17β-estradiol repressed polyamine oxidase transcription by interacting with AP-1 sites on its promoter.
1 citations
,
April 2021 in “Journal of Cosmetic Dermatology” In this placebo-controlled clinical study, a cream containing 4% capryloyl glycine and 1% glycine soy‐fermented extract effectively inhibited ODC1 activity and improved hypertrichosis in 91.7% of Caucasian female patients on the forearms, whereas no improvement was observed with the placebo.
52 citations
,
May 1997 in “Journal of Biological Chemistry” This study suggests that polyamines regulate CK2 enzyme activity and its subcellular distribution, as demonstrated in mouse models and cell cultures with elevated levels of ornithine decarboxylase.
43 citations
,
April 2011 in “AJP Endocrinology and Metabolism” This study found that androgens increase Odc1 expression in skeletal muscle myoblasts, promoting proliferation and delaying differentiation.
21 citations
,
July 2019 in “Cardiovascular Research” This study found that prenatal exposure to androgens caused long-lasting heart remodeling and left ventricular hypertrophy in female mice offspring, suggesting potential cardiac risks for daughters of mothers with PCOS.
28 citations
,
March 2017 in “Endocrinology” In this study, the researchers found that vitamin D and calcium signaling in keratinocytes are essential for normal skin regeneration after wounding, with deficiencies significantly delaying wound closure and re-epithelialization in mice.
6 citations
,
May 2022 in “Aging” This study found that Si Jun Zi Tang may have anti-aging effects in mice, linked to inhibition of the PI3K-AKT and P38 MAPK signaling pathways.
3 citations
,
July 2019 in “Experimental Dermatology” This study reported that polyamine levels, especially N-acetyl polyamines, were higher in the vertex region of the scalp than in the occipital region in patients with male and female pattern hair loss.
This study found that inhibiting the Mitochondrial Pyruvate Carrier in human scalp hair follicles caused metabolic stress that halted cell proliferation and disrupted key signaling pathways, with these effects partially reversed by an integrated stress response inhibitor.
1 citations
,
January 2025 in “JAAD reviews.” This review from JAAD Reviews provides a comprehensive overview of hypertrichosis, discussing its diagnosis, treatment options like topical and laser therapies, and special psychosocial considerations for pediatric patients to better support clinicians and researchers in managing this condition.
5 citations
,
April 2022 in “Evidence-based Complementary and Alternative Medicine” This study explored the mechanism of Shaoyao Gancao decoction in treating alopecia areata and found that it may be closely related to the PI3K/AKT signaling pathway.
59 citations
,
June 2023 in “Nature Aging” This study observed that in aged mouse skin, there was an increase in IL-17-expressing T helper cells, γδ T cells, and innate lymphoid cells, and blocking IL-17 signaling reduced skin inflammation and delayed age-related changes, suggesting it as a potential target to mitigate skin aging.
56 citations
,
January 2015 in “Circulation” This study found that finasteride treatment improved cardiac function and reduced heart failure progression in mice, suggesting it could be a potential therapy for pathological cardiac hypertrophy and dysfunction.
22 citations
,
May 2021 in “Nature Communications” This study found that in wound-induced hair neogenesis, African spiny mice and laboratory mice exhibit different morphogenetic field formation patterns related to tissue stiffness, suggesting evolutionary developmental biology advantages.
This study investigated the mechanisms of Platycladi Cacumen in treating androgenetic alopecia, identifying potential key components and targets but found no specific targets or regulatory mechanisms.
This study investigated dual TCR Treg cells in mouse tissues, revealing a high proportion and diverse pairing patterns compared to single TCR Tregs, providing insights into their origins and characteristics across different tissue locations.
47 citations
,
January 2019 in “Nature communications” This study found that polyamines enhance genome integrity by facilitating homologous recombination-mediated DNA repair, suggesting a novel role for polyamines beyond promoting cell growth and proliferation.
23 citations
,
January 2024 in “Nature Immunology” This study, using multimodal profiling in mice, found that various tissues contain unique γδ T cell subsets adapted to their environment, revealing their functional diversity, lineage relationships, and similarities to CD8+ tissue-resident memory T cells.
3 citations
,
February 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that exposing adult esophageal epithelial cells to skin stroma can induce them to transition toward a hair follicle identity, with HIF1a playing a crucial role in this conversion process.