8 citations
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March 2020 in “Frontiers in Cell and Developmental Biology” This study developed a DPC cell line by introducing mutant CDK4, Cyclin D1, and TERT, making it a promising tool to study downstream signaling pathways activated by testosterone in androgenetic alopecia.
7 citations
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July 2014 in “Reproductive Biomedicine Online” This study found that, among fertile egg donors, the AR gene CAG polymorphism was associated with differences in antral follicle count but did not impact ovarian response to gonadotrophins.
6 citations
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February 2023 in “Journal of nanobiotechnology” In this study, HA-P5, a nanoparticle derived from peptide and polysaccharide conjugation, effectively reduced acne lesions and sebum production by inhibiting specific receptors in cells, without triggering unfavorable reactions compared to a commercial inhibitor, highlighting HA-P5's potential as a novel acne treatment.
6 citations
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October 2022 in “International Journal of Molecular Sciences” This study found that Fgf5 mutant mice exhibited longer hair, particularly in males, likely due to a prolonged anagen phase in the hair cycle.
6 citations
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January 2010 in “Neoplasma” In this study, researchers found that shorter CA repeats in the ERbeta gene are correlated with PSA expression, and PSA immunoexpression is associated with increased disease-free survival in breast cancer.
5 citations
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February 2019 in “PloS one” This study found that structural defects in the hair shafts of sighthounds with bald thigh syndrome are related to a downregulation of genes and proteins essential for hair shaft formation.
5 citations
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September 2015 in “BMC Medical Genetics” In this study, individuals with a c.1072C > T mutation in the EDAR gene showed more hair shaft deformations compared to non-mutation carriers, highlighting EDAR's role in hair follicle development.
4 citations
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July 2025 in “Organoids” This review summarizes the state of organoid technology, highlighting its potential to transform biomedical research and regenerative medicine by providing accurate models for disease study, drug discovery, and potentially developing functional organs for transplantation.
4 citations
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December 2020 in “Mammalian genome” This study found that pelage abnormalities in Harlequin mutant mice are linked to severe AIF deficiency and associated with altered expression of genes related to hair structure.
3 citations
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January 2018 in “Reproduction, Fertility and Development” This study concluded that cyproterone acetate alone produced antiandrogenic effects on the female gerbil prostate, while ethinyloestradiol alone stimulated estrogenic activity, and their combination led to prostatic lesions.
3 citations
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November 2015 in “Journal of Investigative Dermatology” This study examines the interaction between androgen receptor signaling and the β-catenin/Wnt signaling pathway in mouse hair follicles, but reports no clinical results.
2 citations
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January 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that low temperatures and nitrogen deficiency trigger root hair elongation through a molecular mechanism involving the receptor kinase FERONIA and the TOR Complex 1.
2 citations
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May 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study describes a family where a TP63 mutation was linked with prominent alopecia and mild ectodermal dysplasia features.
2 citations
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May 2018 in “Expert opinion on orphan drugs” This review discusses Omenn syndrome, a form of severe combined immunodeficiency, highlighting its immunopathology and genetic defects without presenting new clinical results.
2 citations
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November 2017 in “Elsevier eBooks” This article discusses the role of the androgen receptor in regulating development and homeostasis, and reviews treatment approaches for conditions related to hormone imbalances, without reporting new clinical findings.
2 citations
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July 2015 in “Journal of Cosmetic Dermatology” This study did not find any correlation or linkage disequilibrium between androgen receptor gene CAG/GGC haplotypes and androgenetic alopecia in Mexican brothers.
2 citations
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November 2011 in “InTech eBooks” This article reviews the types and characteristics of adrenal cortex tumors, including their hormone secretion and detection as incidental findings, but presents no new research results.
1 citations
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June 2025 in “Pigment Cell & Melanoma Research” This literature review reports that mutations in the SASH1 gene are linked to different pigmentation disorders, including dyschromatosis universalis hereditaria and lentiginosis. It further suggests SASH1's significant role in melanocyte processes and its potential as a target for developing treatments for these conditions.
1 citations
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December 2018 in “Journal of genetic medicine” In this case report, a 20-year-old male with tricho-rhino-phalangeal syndrome was found to have a de novo frameshift mutation in the TRPS1 gene, highlighting the challenges in diagnosing this rare disorder.
1 citations
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July 2016 in “Elsevier eBooks” Understanding skin structure and development helps diagnose and treat skin disorders.
1 citations
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January 2016 in “Elsevier eBooks” This review examines the origins and mechanisms of tumor initiation in common skin cancers, but does not present new experimental findings; it emphasizes the need for further research on cancer stem cells.
1 citations
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January 2013 in “MedChemComm” This study characterized the SARM PF-05314882, finding it demonstrates anabolic activity in rats with minimal effects on the prostate, seminal vesicles, and luteinizing hormone levels.
In this case report, researchers describe a 22-year-old male with a unique presentation of Senior-Løken Syndrome due to a NPHP4 mutation, exhibiting atypical symptoms like cryptorchidism, alopecia, and potential syndromic overlap with Rothmund-Thomson Syndrome, suggesting complex genetic interactions and expanding the phenotypic spectrum of ciliopathies.
August 2025 in “Therapeutics” In this study, low concentrations of DMSO were found to decrease androgen receptor expression and inhibit the migration of prostate cancer cells, suggesting potential as an anticancer therapy.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
May 2024 in “Scientific Reports” In this study, researchers examined androgen receptor activity in the adult mouse brain and found specific expression in key brain areas, which could inform understanding of cognitive side effects in humans undergoing androgen deprivation therapy for prostate cancer.
September 2023 in “Frontiers in cell and developmental biology” This study found that a catalytically active version of Vav2 significantly altered gene expression patterns in hair follicle stem cells in mice, with these changes varying over the animals' lifespans.
September 2020 in “Acta Scientific Cancer Biology” This case report describes how personalized treatment based on Encyclopedic Tumor Analysis successfully led to durable regression in a woman with advanced pilomatrical carcinoma, unresponsive to standard care.
June 2019 in “Pediatric Dermatology” This review discusses the pathogenesis and clinical presentations of alopecia in epidermolysis bullosa patients, noting diverse hair abnormalities and emphasizing the lack of a consensus on its natural history.
January 1995 in “Adolescent and pediatric gynecology” This article reviews genetic and phenotypic aspects of androgen insensitivity syndromes, emphasizing the diversity of mutations that complicates molecular screening and the importance of genotype-phenotype correlations.