This study used proteomic profiling to reveal significant individual and site-specific differences in human hair shaft proteins, which may improve the differentiation of hair based on ethnic origin and individual identity.
March 2022 in “International journal of pharmaceutical sciences review and research” This review examines treatment options for PCOS, highlighting the importance of managing symptoms and patient counseling, and reports no new clinical results.
July 2020 in “Bioinformatics and Bioengineering” This study found that multiple genes and pathways, particularly several keratin-associated proteins, may be involved in the molecular pathogenesis of male androgenetic alopecia.
98 citations
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August 2007 in “PLoS ONE” This study found that Myc activation in epidermal stem cells leads to chromatin modifications that promote stem cell exit and differentiation, which can be influenced by HDAC inhibitors like trichostatin A.
48 citations
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August 2018 in “Nature Communications” This study found that JunB, a transcription factor, is crucial for maintaining epidermal-pilosebaceous stem cell homeostasis by regulating progenitor cell behavior and preventing sebaceous gland dysfunction.
42 citations
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June 2009 in “Journal of Cosmetic Dermatology” In this study, researchers observed that follicular microinflammation significantly contributes to the early stages of male androgenetic alopecia, potentially leading to perifollicular fibrosis and follicle destruction as the condition progresses.
11 citations
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August 2014 in “PLoS ONE” This study found that GFRα2 influences cell size but not survival or target innervation of Ret-positive low-threshold mechanoreceptors in mouse dorsal root ganglia, differing from its role in nonpeptidergic nociceptors.
9 citations
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January 2008 in “Acta histochemica et cytochemica” This study found that COX-2 expression in normal rat skin is linked to the hair cycle, with varying levels observed in different skin structures during anagen, catagen, and telogen phases.
2 citations
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February 2015 in “Journal of Tissue Engineering and Regenerative Medicine” This study found that transplanting trichogenous dermal cells significantly enhanced the restoration of in vivo-damaged hair follicles in a nude rat model, with a combination of dermal papilla and sheath cells proving more effective than either cell type alone.
1 citations
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February 2025 in “Scientific Reports” In this study, researchers developed a three-dimensional ultrastructural analysis tool using serial block-face scanning electron microscopy to reveal detailed nerve networks and muscle structures in human skin tissues, demonstrating the technique's potential to study structural changes in aging or disease.
July 2021 in “Advances in laboratory medicine” This article reviews differential diagnosis approaches for 46,XY DSD, proposing a diagnostic algorithm focused on biochemical and genetic data, without presenting new clinical results.
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.
54 citations
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April 2010 in “Baillière's best practice and research in clinical endocrinology and metabolism/Baillière's best practice & research. Clinical endocrinology & metabolism” This review discusses 46,XY disorders of sex development caused by defects in androgen production and highlights the need for long-term care from experienced multidisciplinary teams, but it reports no new clinical findings.
13 citations
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June 2024 in “Frontiers in Genetics” This review examined genetic factors in 46, XY differences/disorders of sex development and found that whole-exome sequencing is more effective than panel sequencing for molecular diagnosis. It identified regional genetic variation and emphasized next-generation sequencing's role in detecting variants related to gonadal and androgen-related genes.
September 2022 in “Annals of medicine and surgery” This case report discusses the diagnostic challenges and management options for three siblings with 46, XY DSD due to type 2 5-α reductase deficiency, highlighting the genetic basis and impact on their quality of life.
May 2021 in “Journal of Advances in Internal Medicine” This case report describes a 13-year-old with DSD raised as female, exhibiting hoarseness and clitoral enlargement, with hormonal assessments not indicating common related deficiencies.
7 citations
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June 2011 in “Movement Disorders” A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
January 2025 in “Case Reports in Genetics” The researchers identified a pathogenic variant in the SRD5A2 gene among siblings with 46,XY disorder of sexual development, highlighting the importance of comprehensive genetic testing in diagnosis and management.
33 citations
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December 2005 in “British Journal of Clinical Pharmacology” This study found that the Transdermal Delivery System efficiently delivers testosterone systemically and showed bioequivalent hormone concentrations to a known topical gel in healthy males.
October 2022 in “Amplla Editora eBooks” Deep Brain Stimulation helps manage Parkinson's symptoms when medication isn't enough.
1 citations
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March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
2 citations
,
September 2024 in “Asian Journal of Andrology” In a retrospective cohort of patients with steroid 5 α-reductase 2 deficiency, this study identified seven novel genetic variants in the SRD5A2 gene, expanding the variant database and contributing to improved diagnostic and therapeutic approaches for the condition.
3 citations
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January 2018 in “Frontiers in bioscience” This retrospective analysis reported significant increases in testosterone levels in men with testosterone deficiency using the Daily Subcutaneous Testosterone method combined with hCG and anastrozole, indicating its potential as a treatment option.
41 citations
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March 2016 in “The Journal of Clinical Endocrinology & Metabolism” This study suggests that patients with STSD show a different pattern in androgen activation compared to healthy controls, potentially due to increased 5α-reductase activity and absent prepubertal serum DHEA surge.
1 citations
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September 2023 in “International Journal of Women’s Dermatology” This article discusses the teratogenic risks of skin condition treatments for individuals with DSD and notes that testosterone replacement, often used in this population, may cause acne.
January 2024 in “Wiadomości Lekarskie” This pilot clinical study introduces DEC cells as a novel therapy for Duchenne muscular dystrophy, confirming safety and efficacy in seven patients up to 24 months post-treatment.
11 citations
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December 2013 in “Clinical and experimental dermatology” This study reports a case of a child with congenital skin fragility, alopecia, and cardiomyopathy due to compound heterozygous mutations in the DSP gene causing desmoplakin deficiency.
11 citations
,
October 2003 in “Contraception”
In this retrospective case series, therapeutic responses to immunomodulatory and incretin-based therapies for Dercum's disease showed considerable individual variation, suggesting these treatments might be exploratory options when surgery isn't feasible, though further controlled studies are needed for definitive conclusions.
January 2002 in “映像情報メディア学会技術報告” This study found that 60% of examined prostate tumors had new somatic substitutions in the SRD5A2 gene, affecting enzyme activity and potentially influencing prostate cancer progression.