January 2020 in “Proyecto de investigación:” This study found a significant association between AGDAC measurements and the presence of PCOS, suggesting it could be an effective clinical tool in diagnosing the condition and its phenotypes, especially when combined with AMH.
12 citations
,
January 2016 in “Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie” This study identified a novel mutation in the EDA gene, which may impair protein stabilization and be involved in the development of oligodontia and mild ectodermal dysplasia phenotypes.
20 citations
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April 2000 in “Experimental dermatology” This study observed that overexpression of the enzyme ODC in transgenic mice caused hair loss and skin changes similar to human papular atrichia, suggesting that ODC might be involved in a critical hair follicle function pathway.
May 2026 in “BMC Medicine” This study found that ACOD1 deficiency in dermal papilla cells promotes mitochondrial dysfunction and contributes to cellular senescence in androgenetic alopecia, suggesting ACOD1 as a potential therapeutic target and 4-octyl itaconate as a promising treatment option for AGA.
44 citations
,
May 2008 in “Plant journal” This study found that D'orenone blocks root hair growth by increasing PIN2 protein abundance, leading to reduced auxin concentration, but external auxin can reverse these effects.
1 citations
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January 2010 This study found that ornithine decarboxylase (ODC) may play a significant role in regulating human hair growth and hair cycle changes, as inhibiting ODC reduced follicular keratinocyte proliferation and human hair growth.
April 2017 in “Journal of Investigative Dermatology” This case study reports that a heterozygous missense GJA1 mutation, p.Gly138Ser, in a 2-year-old boy with oculodentodigital syndrome primarily resulted in syndactyly, fifth finger hypoplasia, and hypotrichosis, without neurological or craniofacial abnormalities.
1 citations
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January 1989 in “Carcinogenesis” This study found that dexamethasone treatment inhibited the inflammatory response and the induction of ornithine decarboxylase activity in mouse skin after TPA application, although the effect on ODC was weaker during the hyperplastic stage.
15 citations
,
January 1995 in “Archives of dermatological research” In this study, OCT showed strong nuclear binding in certain skin cells, suggesting similar genomic effects to vitamin D with potential therapeutic benefits due to its lower calcaemic effect.
37 citations
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January 2006 in “Carcinogenesis” In this study, crossing mice overexpressing antizyme with MEK mutants significantly delayed tumor development and reduced tumor frequency, likely by slowing cell growth in skin tumors.
April 2025 in “Experimental Eye Research” In this study, researchers characterized the retinal structure and function of the Oatrhg mouse model of gyrate atrophy, finding localized atrophy without significant retina-wide functional impact, suggesting the model may be useful for testing new treatments using multimodal retinal imaging.
11 citations
,
March 2020 in “American Journal of Medical Genetics Part A” This study identified a novel homozygous EDNRA variant linked to Oro-Oto-Cardiac Syndrome and showed that EDNRA signaling is essential for normal craniofacial and cardiovascular development.
197 citations
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June 2009 in “American journal of human genetics” This study found that previously undescribed WNT10A mutations are a prominent cause of various forms of ectodermal dysplasia, including OODD and Schöpf-Schulz-Passarge syndrome, with gender-specific phenotypic effects noted.
140 citations
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February 2014 in “Neuron” This study found that the opioid system, particularly via the delta opioid receptor, broadly regulates cutaneous mechanosensation, including touch, and suggests targeting this receptor could alleviate injury-induced mechanical hypersensitivity.
52 citations
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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.
April 2026 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that distinct neurons in the nucleus accumbens lateral shell regulate scratching behavior differently; D1R neurons promote scratching while D2R neurons help stop it, with elevated dopamine levels during chronic itch potentially enhancing persistent scratching.
15 citations
,
October 2018 in “Reproductive Biomedicine Online” This study suggests that the anogenital distance measure AGDAC may moderately discriminate the presence of polycystic ovarian syndrome and could be a useful clinical tool.
January 2021 in “Skin Appendage Disorders” 26 citations
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January 1992 in “Carcinogenesis” This study suggests that chronic treatment with TPA in mouse skin selectively expands a keratinocyte subpopulation hyperinducible for ODC, which may be a key target for neoplastic transformation.
70 citations
,
November 2020 in “The Ocular Surface” This review discusses the role of organoids and organ chips in advancing ophthalmological research and therapeutic evaluation, but it reports no new clinical findings.
28 citations
,
February 2010 in “British journal of dermatology/British journal of dermatology, Supplement” This article reviews phenotypic variability linked to WNT10A nonsense mutations and does not present new research findings.
8 citations
,
December 2003 in “Experimental Dermatology” In this study, injecting chimeric RNA–DNA oligonucleotides into mice skin caused a temporary mutation in keratin 17, altering hair morphology, but the mutation was transient due to genetic compensation or cell replacement.
48 citations
,
June 2000 in “Japanese Journal of Cancer Research” This study found that dimethylarsinic acid significantly accelerates skin tumor development in hair follicle-targeted K6/ODC transgenic mice.
87 citations
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March 2017 in “Journal of Clinical Investigation” In this study, researchers identified PSENEN mutations that can lead to a form of Dowling-Degos disease, characterized by follicular hyperkeratosis and an increased susceptibility to acne inversa, especially in the presence of certain trigger factors.
208 citations
,
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.
3 citations
,
February 1983 in “Journal of Investigative Dermatology” This study found that plucking hair from rats' dorsal skin rapidly decreased ornithine decarboxylase activity, possibly due to an inhibitory substance that was activated by ammonium sulfate treatment.
1 citations
,
August 2016 in “Dermatology - Open Journal” In this study, the researchers found that optic atrophy 1 (OPA1) is involved in the transition between filamentous and rounded mitochondria in hair follicle dermal papilla cells, potentially influencing cellular energy dynamics.
7 citations
,
January 2020 in “Dermatology online journal” In this case report, adult-onset porokeratotic eccrine ostial and dermal duct nevus improved with topical tazarotene treatment, as evidenced by dermatoscopic images.
14 citations
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April 2005 in “Experimental Dermatology” This study found that stressed dermal fibroblasts significantly increased dopa oxidase activity in melanocytes from hair, skin, and eyes, suggesting the involvement of fibroblast-derived factors like basic Fibroblast Growth Factor.