10 citations
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December 2017 in “Chemosphere” In this study, BPA rapidly increased dendritic spine and synapse densities in cultured rat hippocampal neurons, with involvement of estrogen receptors and ERK1/2 and p38 pathways, but disrupted dihydrotestosterone's effects on synaptic plasticity.
17 citations
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August 2012 in “Journal of Medical Genetics” This article reviews the genetic mutations associated with hypohidrotic ectodermal dysplasia and reports no new clinical results; the authors highlight the roles of EDA gene isoforms and related receptors.
1 citations
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January 2022 in “Cell Biology International” This study found that altering cyclin-dependent kinase 4 (CDK4) levels in the bulge region of hair follicles affects the balance of stem cell numbers, potentially influencing hair follicle self-renewal and proliferation.
January 2025 in “JAAD International” This randomized, controlled clinical trial found that combining 25 mg/d bicalutamide with 1 mg/d minoxidil for 24 weeks did not enhance hair density improvement in female pattern hair loss compared to 1 mg/d minoxidil alone, with no significant difference observed between the groups.
October 2024 in “Endocrinology Insights” In this study, researchers found that both the EU-TIRADS and Bethesda systems exhibited high specificity but suboptimal sensitivity for predicting thyroid nodule malignancy in patients who underwent surgery, with Bethesda system showing particularly high specificity in this postoperative population.
January 2008 in “HAL (Le Centre pour la Communication Scientifique Directe)” This study identified complex regulatory elements and interactions involving the Hr gene and HR protein that are crucial for hair follicle formation and cycling in mammals.
January 2024 in “Genetics in Medicine Open” In this report, two adult patients with Tatton-Brown-Rahman syndrome exhibited new cardiac features, such as atrial fibrillation and ventricular and atrial dilatation, highlighting the importance of cardiovascular follow-up in adults with this condition.
4 citations
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August 2021 in “Pediatrics in review” This review explores disorders of sex development, emphasizing the need for a systematic, multidisciplinary approach and the benefits of genetic testing for better diagnosis and gender assignment planning, but it reports no new clinical findings.
September 2013 in “Helda (University of Helsinki)” This study explored the genetics of inherited developmental defects in dogs and identified novel mutations affecting traits like caudal dysplasia, ectodermal dysplasia, and mucopolysaccharidosis VII, suggesting dogs as models to study human diseases.
November 2023 in “Journal of plant nutrition and soil science” This study observed that maize plants, including a root hairless mutant variety, did not exhibit typical root growth or compensatory foraging behavior under severe boron deficiency in soil, indicating atypical responses compared to other plants.
January 2025 in “Journal of the American Academy of Dermatology” Combining oral minoxidil and bicalutamide may help improve hair growth in adolescent girls.
1 citations
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May 2024 in “Communications Biology” This study found that Dab2 conditional knockout mice experienced delayed hair follicle cycles and reduced hair follicle stem cell activity, suggesting Dab2's crucial role in regulating stem cell activation and anti-aging process in hair follicles.
July 2025 in “New Phytologist” This study demonstrated that the FER/MLO signaling module regulates calcium dynamics and ROS accumulation in root hair growth, with the constitutively active MLO (faNTA) able to restore normal development and signaling in specific mutant genotypes, highlighting MLO15's role in root hair tip growth regulation.
94 citations
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July 2020 in “European Journal of Human Genetics” This article provides guidelines for molecular genetic testing of congenital adrenal hyperplasia due to 21-hydroxylase deficiency, focusing on quality requirements, methodologies, and variant classification; it reports no new clinical results.
April 2024 in “Human genomics” This study identified MPB susceptibility genes and potential drug candidates that may help uncover molecular mechanisms and address male-pattern baldness.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study revealed distinct cellular and transcriptomic differences among various subtypes of cutaneous T-cell lymphoma, particularly highlighting characteristics unique to folliculotropic mycosis fungoides.
January 2026 in “American Journal of Medical Genetics Part A” The researchers reported two brothers with a new variant of X-linked trichothiodystrophy associated with an RNF113A gene mutation, highlighting features such as intellectual disability and growth failure, but without previously reported endocrinological or genital abnormalities, underlining the importance of genetic counseling for such variants.
6 citations
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October 2011 in “ISRN Ophthalmology” This study found that increased serum testosterone and dehydroepiandrosterone sulphate levels may serve as diagnostic markers for seborrheic meibomian gland dysfunction in both genders.
6 citations
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July 2005 in “Farmaco” This study developed a micellar electrokinetic capillary chromatography method for determining minoxidil in Rogaine and generic products, offering a simple and efficient alternative to HPLC.
6 citations
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January 2020 in “International journal of biological sciences” In this study, deletion of ROBO4 in mice ameliorated hair loss caused by elevated PAF levels, suggesting potential interplay with VLDLR-related pathways.
33 citations
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October 2005 in “Journal of Investigative Dermatology” A specific gene mutation causes sparse, brittle hair in a family.
5 citations
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February 2017 in “Biomolecules & Therapeutics” The authors reported that 4-O-methylhonokiol decreased TGF-β1-induced cell cycle arrest and oxidative stress markers in human keratinocyte cells, suggesting a potential protective role in TGF-β1-mediated cell cycle regulation.
70 citations
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December 2004 in “Proceedings of the National Academy of Sciences” This study found that BMP signaling influences hair pigmentation in mice by affecting the Agouti protein and interacts with MC-1R pathways to modulate melanin production.
2 citations
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July 2015 in “Case Reports in Dermatology” In this case study, DDS treatment for LABD was complicated by hemolytic anemia and alopecia, suggesting the need for careful monitoring of these potential side effects.
September 2024 in “Journal of Medicine and Life” In this study, researchers identified a recurrent nonsense mutation, c.409C>T (p.Arg137*), in the COL7A1 gene through whole exome sequencing in a family with autosomal recessive dystrophic epidermolysis bullosa, demonstrating the importance of this method for diagnosing genetically complex conditions.
18 citations
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February 2010 in “Odontology” This report describes Rabson-Mendenhall syndrome cases in two siblings and briefly reviews the literature, highlighting insulin receptor gene mutations as the underlying cause.
234 citations
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April 2000 in “Gene” This review discusses the expression patterns and biochemical roles of Msx and Dlx genes during development but does not present new research findings.
January 2013 in “Kidney international” This report describes a clinical case of a 38-year-old man diagnosed with Birt-Hogg-Dubé syndrome, confirmed by genetic testing, highlighting the presentation of multiple renal tumors and bilateral lung cysts.
4 citations
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March 2024 in “Developmental Dynamics” In this study, researchers used conditional mouse models to show that inactivation of the Alx4 gene in specific cell lineages leads to craniofacial and limb defects without affecting postnatal survival, providing insights into Alx4's role in development and disease.
1 citations
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April 2025 in “Pediatria i Medycyna Rodzinna” This research re-analyzed single-cell gene expression data from a mouse model, confirming that certain genes involved in the EDA-EDAR and WNT pathways are crucial for skin appendage development, suggesting that their restoration may mitigate the effects of hypohidrotic ectodermal dysplasia in children.