This article reviews current understanding of Hutchinson–Gilford Progeria Syndrome and suggests RNA-based treatments show promise, but no new clinical findings are reported.
2 citations
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February 2018 This study found that Raman spectroscopy has potential for detecting biophysical differences in basal cell carcinoma compared to normal skin structures, supporting its future use in Mohs surgery.
October 2021 in “Dermatology reports” The care model improved timely diagnosis and treatment for psoriasis and psoriatic arthritis.
April 2026 in “Zenodo (CERN European Organization for Nuclear Research)” In this study, Dodatek A operationalizes the Functional Androgen Axis framework by defining three system-level indices and an efficiency metric to describe androgen function, incorporating key methodological improvements and acknowledging significant limitations for future empirical validation.
6 citations
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October 2014 in “Endokrynologia Polska” This study found that hirsutism is more prevalent in Chinese women with PCOS compared to the general population, and the Ferriman-Gallwey score is a good predictor for diagnosing PCOS in this group.
8 citations
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December 2016 in “Hormone Research in Paediatrics” This study reported a series of eight children with hereditary vitamin D-resistant rickets in Tunisia, identifying both common and novel mutations in the vitamin D receptor gene, and noting significant improvement with intravenous calcium treatment in most patients.
March 2020 in “Hair transplant forum international” This article reports on a Consent Agreement by the New York State Board charging Dr. Dennis Daly with professional misconduct related to unqualified and unlicensed practice.
1 citations
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December 2023 in “Curēus” This study observed that five out of fourteen individuals aged 13-16 years, who were homozygous for the p.C282Y mutation related to hemochromatosis, had increased liver and phlebotomy-mobilized iron levels.
10 citations
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January 2015 in “European journal of pharmacology” In this animal study, ginsenoside Rb1 demonstrated therapeutic effects on hypertrophic scar remodeling, with the highest efficacy observed at a dose of 0.56 mg.
August 2026 in “International Journal of Pharmaceutical and Clinical Research” This review synthesizes knowledge on HTRA1-associated disorders, highlighting how mutations in the HTRA1 gene are linked to cerebral small vessel disease and systemic conditions, and discusses emerging diagnostic and therapeutic strategies aimed at precision medicine.
November 2023 in “Scientific reports” This study presents the first report on cloning and characterizing the full-length cDNA of SRD5A1 in Indian catfish (Clarias magur), revealing expression differences across reproductive phases and increased expression post-Ovatide administration in ovaries and testis.
July 2023 in “Journal of medical and health studies” This case study reported on a 3-year-old child with vitamin D-dependent rickets type II treated in the Gaza Strip, whose condition deteriorated despite vitamin D and calcium treatments, leading to recurrent chest infections, respiratory failure, and eventual death.
1 citations
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September 2016 in “Hair transplant forum international” This article proposes enhancing the Norwood-Hamilton scale for assessing hair loss patterns but reports no new clinical results.
3 citations
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November 2008 in “Facial Plastic Surgery” This article reviews the unique management skills necessary for building a successful hair restoration surgery team and contrasts them with managing a general cosmetic surgery practice, without reporting new research findings.
September 2025 in “Indian Journal of Dermatology” In this case report, researchers detailed a 22-year-old Turkish woman diagnosed with autosomal recessive woolly hair/hypotrichosis (ARWH/H), linked to a mutation in the LIPH gene, resulting in sparse, poorly growing, curly hair, highlighting the need for genetic consideration in similar hair conditions.
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.
2 citations
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January 2020 in “Clinical Dermatology Review” In this study, idiopathic hirsutism was identified as the most common cause of hirsutism among the patients, followed by polycystic ovarian syndrome.
25 citations
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November 2018 in “Cell reports” This study found that the ablation of Esrp1 and Esrp2 disrupts epithelial tight junctions by affecting Arhgef11 isoform expressions, highlighting a potential mechanistic link between splicing alterations and epithelial barrier defects.
July 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study reports that structural and biochemical analysis of steroid 5α-reductases clarifies how they mediate steroid reduction with NADPH, potentially aiding in designing targeted therapies.
30 citations
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July 2019 in “Endocrinology” This review discusses how the HSD3B1(1245C) genotype may impact androgen physiology and the progression of castration-resistant prostate cancer, and does not report new experimental results.
37 citations
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September 2008 in “Plant Signaling & Behavior” In this study, overexpression of the gene OsPHR2 in rice led to increased root growth and phosphate accumulation in shoots, suggesting its role in phosphate signaling and homeostasis.
266 citations
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November 2013 in “European Journal of Epidemiology” This article outlines the rationale and design of the Rotterdam Study, summarizes its major findings, and updates its objectives and methods; it reports no new research results.
25 citations
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August 2014 in “Endocrinology” This study created a humanized mouse model of hereditary vitamin D-resistant rickets that lacks alopecia, indicating the mutant receptor's potential to explore the syndrome's characteristics beyond vitamin D binding.
3 citations
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February 2019 in “Disease Markers” This study reports that a lower 2D:4D finger length ratio is significantly associated with higher disease activity and reduced spinal mobility in females with ankylosing spondylitis, but not in males.
October 2024 in “Journal of the Endocrine Society” This study highlights a rare case of vitamin D-dependent rickets type 2A caused by a heterozygous mutation in the vitamin D receptor gene, emphasizing the complexity of managing this condition with high-dose calcium and vitamin D therapy.
May 2024 in “Frontiers in medicine” In this study, a 3-year-old Japanese child with autosomal recessive woolly hair was found to have a distinctive irregular and rough cuticle on the hair shaft, along with a homozygous pathogenic LIPH variant, suggesting a critical role for genetic analysis in understanding rare hair conditions.
June 2023 in “British Journal of Dermatology” This study reviews historical accounts suggesting several British monarchs suffered from various skin diseases, including leprosy, psoriasis, stasis dermatitis, systemic lupus erythematosus, and porphyria.
October 2025 in “Nepal Journal of Dermatology Venereology & Leprology” This study concluded that polycystic ovary syndrome is the most common cause of hirsutism, with significant correlations between PCOS, insulin resistance, and BMI among affected women.
September 2022 in “Research Square (Research Square)” This study found that overexpressing Rps14 in supporting cells promoted hair cell regeneration in the organ of Corti by facilitating cell proliferation and differentiation.
January 2025 in “JCEM Case Reports” This report describes two cases of glucocorticoid resistance syndrome highlighting genetic diversity; one patient improved with low-dose dexamethasone despite negative genetic testing, while the other is monitored with a novel NR3C1 variant.