42 citations
,
July 2007 in “Journal of Biological Chemistry” This study found that most pathogenic HR mutants associated with atrichia with papular lesions had abolished corepressor activity due to defective interactions with histone deacetylases.
3 citations
,
December 2021 in “Frontiers in endocrinology” In this study, a novel DCAF17 gene mutation was identified in a Chinese family, suggesting a potential role in pancreatic β cell dysfunction and diabetes development in Woodhouse-Sakati syndrome.
3 citations
,
August 2021 in “Research Square (Research Square)” This study found that increased mRNA expression of the Ectodysplasin-A2-Receptor, observed across multiple species and tissues, may exacerbate inflammation during aging, suggesting potential benefits of blocking EDA2R/EDA-A2 signaling.
August 2019 in “Carolina Digital Repository (University of North Carolina at Chapel Hill)” This study indicates that MAGE-11 modulates androgen receptor transcriptional activity through F-box interactions, independent of the activation function 2 pathway, revealing a novel mechanism for androgen receptor regulation.
30 citations
,
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.
2 citations
,
November 2022 in “Biosensors” This study introduced a new spectrofluorometric method using a synthesized organic fluorophore to effectively analyze darolutamide and thalidomide in pharmaceutical preparations and biofluids.
26 citations
,
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.
June 2003 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” GLABRA2 represses root hair formation by inhibiting a specific gene.
37 citations
,
January 1986 in “Carcinogenesis” This study found that TPA treatment transiently induces high levels of ODC in mouse epidermal cells, particularly around hair follicles, with localization reduced by retinoic acid or cycloheximide pretreatment.
60 citations
,
December 1988 in “Journal of Biochemical Toxicology” In this study, TCDD administered to male rats down-regulated EGF receptor in liver plasma membranes and increased protein kinase activity, suggesting EGF receptor–mediated toxicological effects.
67 citations
,
September 2001 in “American Journal Of Pathology” This study found that overexpression of the enzyme ornithine decarboxylase in transgenic mice led to UVB-induced skin tumors, but this was prevented by the ODC inhibitor α-difluoromethylornithine.
18 citations
,
August 2015 in “Biochemical and Biophysical Research Communications” This study found that the XEDAR receptor can activate the non-canonical NF-kB pathway involving p100 processing, which is regulated by interactions with TRAF proteins and specific kinases.
37 citations
,
April 2011 in “Journal of Biological Chemistry” This study discovered a novel interaction between the vitamin D receptor and LEF1, essential for normal Wnt signaling in keratinocytes, which is crucial for regular hair cycling.
August 2026 in “International Journal of Developmental Neuroscience” In this report, researchers describe a 13-month-old with neurodevelopmental disorder NEDESBA, confirming a TRAPPC4 gene mutation as the cause after excluding biotinidase deficiency, highlighting the importance of molecular testing for accurate diagnosis in overlapping metabolic and genetic conditions.
4 citations
,
January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This study identified two distinct VDR gene mutations among Lebanese families with hereditary vitamin D-resistant rickets, noting varied treatment responses and promising outcomes despite severe phenotypes.
10 citations
,
May 2020 in “Frontiers in cell and developmental biology” In this study, researchers found that Dicer, but not Tarbp2, plays a crucial role in regulating the growth phase of hair follicles in post-natal mice.
12 citations
,
September 2015 in “Drug Design Development and Therapy” This study found that the DOX derivative AD198 more effectively inhibited cell viability and induced apoptosis in canine cancer cell lines K9TCC and K9OSA compared to DOX in vitro.
April 2024 in “Institutional Repositories DataBase (IRDB)” This study identified 11 previously unreported ABCA12 variants associated with varying severities of autosomal recessive congenital ichthyoses and expanded the phenotype spectrum of ichthyosis linked to these variants.
December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” This study found that chromosomal microarray analysis identified copy number variations in 12% of patients with dysmorphic features and congenital anomalies, demonstrating its potential as a diagnostic tool, especially for rare CNVs and immune deficiency linked to the deletion of CTLA4.
14 citations
,
April 2019 in “Genes” This study identified a genetic locus associated with coat type in domestic dogs, showing certain variants linked to single-coated breeds and suggesting potential regulatory roles.
50 citations
,
September 2009 in “Molecular Genetics and Metabolism” This study identified a novel V26M mutation in the vitamin D receptor as the cause of hereditary vitamin D resistant rickets in a patient, characterized by severe rickets and an unusual pattern of alopecia.
42 citations
,
August 1999 in “The American journal of pathology” This study found that basal cell carcinomas show strong expression of vitamin D receptors at both mRNA and protein levels, suggesting a potential role in tumor growth regulation.
5 citations
,
October 2023 in “Phytotherapy Research” This study found that dauricine, a natural compound, may inhibit cell growth and enhance apoptosis in neuroblastoma and glioblastoma by blocking the Oct4/Shh pathway and AKT/β-catenin signaling.
4 citations
,
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.
37 citations
,
October 2006 in “Archives of Biochemistry and Biophysics” This study describes a patient with hereditary vitamin D resistant rickets (HVDRR) who, despite having a truncated vitamin D receptor, did not exhibit typical hair or skin abnormalities, suggesting possible compensation via interactions with other proteins.
24 citations
,
November 2008 in “Arquivos Brasileiros de Endocrinologia & Metabologia” In this study, mutations in the vitamin D receptor were identified in Brazilian children with rickets and alopecia, leading to impaired receptor activation and reduced 24-hydroxylase expression.
1 citations
,
August 2021 in “Journal of The American Academy of Dermatology” In this study, baricitinib treatment led to significant regrowth of scalp, eyebrow, and eyelash hair in alopecia areata patients compared to placebo, with higher effectiveness seen at the 4-mg dose.
42 citations
,
January 2009 in “Colloids and Surfaces B: Biointerfaces” This study found that dimethylpabamidopropyl laurdimonium tosylate, a quaternary ammonium surfactant, adsorbs onto human scalp hair with kinetic and isotherm behaviors fitting specific models, changing hair fiber wettability from hydrophobic to hydrophilic.
June 2018 in “The Journal of Sexual Medicine” In this study, finasteride was found to significantly reduce DHT levels and affect spermatogenic markers in rats, while DA-9401 co-treatment indicated potential ameliorative effects.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that deleting all three Tet genes in mice led to shorter hair shafts and altered hair types, with associated changes in gene expression and DNA hydroxymethylation.