46 citations
,
October 2012 in “Seminars in reproductive medicine” This review describes how recent discoveries in genetic defects and alternative pathways in androgen biosynthesis are reshaping our understanding of male sexual differentiation, but it presents no new clinical findings.
6 citations
,
July 2016 in “Doklady Biochemistry and Biophysics” This study found that GD-23, a dipeptide ligand of TSPO, exhibited an anxiolytic effect in the elevated plus maze test, which was inhibited by selective neurosteroid synthesis inhibitors, suggesting a neurosteroidogenic mechanism.
November 2022 in “Journal of the Endocrine Society” This case report highlights a novel NR5A1 gene variant associated with a severe 46,XY disorder of sex development, stressing the importance of genetic screening in similar cases.
This study explored the structure and function of lipocalin prostaglandin D synthase, revealing its dual role in substrate catalysis and as a lipophilic ligand carrier, potentially informing future drug delivery design.
26 citations
,
December 2012 in “Bioanalysis” The researchers reported that glucuronides stored as dried blood spots under ambient conditions exhibited stability equivalent to liquid samples stored at -80°C.
15 citations
,
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identifies KLK14 as a significant factor contributing to hair defects and skin inflammation in a mouse model of Netherton syndrome.
5 citations
,
June 2014 in “Der Hautarzt” This review discusses genetic causes and classification of rare, monogenic forms of alopecia and highlights the role of molecular genetic research in understanding hair loss mechanisms but reports no new clinical results.
1 citations
,
November 2024 in “Orphanet Journal of Rare Diseases” Changes in genes FGA, VWF, and ACTG1 may contribute to pemphigus vulgaris.
November 2025 in “Journal of Investigative Dermatology” Dark skin has stronger barriers and structure due to specific gene activity.
May 2025 in “Pediatric Dermatology” This systematic review identified topical and oral minoxidil as the most effective treatments for monilethrix, but noted the varying efficacy of oral retinoids and other treatments.
February 2025 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that in a human skin organ culture model of pemphigus vulgaris, split formation led to significant upregulation of IFNγ and TNFα-related genes, indicating secondary effects from mechanical stress, not direct changes from autoantibodies.
April 2023 in “Journal of Investigative Dermatology” This study found that mRNA booster vaccinations for SARS-CoV-2 increased protective antibodies without worsening autoimmune disease activity in patients with pemphigus and bullous pemphigoid.
205 citations
,
March 2012 in “Science Translational Medicine” PGD2 stops hair growth and is higher in bald men with AGA.
June 2026 in “Frontiers in Oncology” In this study, researchers found that deficiencies in Gsdma1/2/3 significantly inhibited the initiation and progression of cutaneous squamous cell carcinoma (cSCC) in mice, suggesting GSDMA's role in promoting cSCC proliferation and its potential as a therapeutic target.
9 citations
,
September 2017 in “Journal of Investigative Dermatology Symposium Proceedings” In this study, PGD2 was shown to increase testosterone production in human keratinocytes through reactive oxygen species, suggesting potential benefits of antioxidants like N-acetyl-cysteine for AGA patients.
2 citations
,
April 2012 in “Science-business Exchange” Blocking a protein called prostaglandin D2 might help treat hair loss.
October 2025 in “Dermatology Practical & Conceptual” In this study, UVFD and sUVRD techniques revealed distinctive characteristics of GD lesions, suggesting that GD might be more common in younger individuals and females than previously thought, possibly due to underdiagnosis. Incorporating dermatoscopy in exams may help improve GD detection and management.
21 citations
,
December 2015 in “Development Growth & Differentiation” This study introduces genital sex differentiation parameters (GSDP) to analyze sexual differences in external genitalia and perineum development in mice, revealing varied sensitivity to androgen inhibition in genital structures.
14 citations
,
May 2017 in “Journal of Investigative Dermatology” This study reports a novel homozygous mutation in the DST gene causing a unique form of epidermolysis bullosa simplex with prurigo papules in a 39-year-old Syrian man.
4 citations
,
October 2021 in “Journal of Clinical Medicine” This study found that individuals with heterozygous truncation-type variants in the *DSP* gene exhibit lower skin temperature and higher transepidermal water loss, with specific microscopic skin changes and pseudomonilethrix.
August 2025 in “American Journal of Case Reports” In this case report, researchers describe a 13-year-old phenotypic female with 46,XY karyotype, previously misdiagnosed with androgen insensitivity syndrome, who was later identified to have 17-beta-hydroxysteroid dehydrogenase type 3 deficiency, underscoring the importance of genetic and hormonal tests for accurate diagnosis of sex development disorders.
70 citations
,
April 2014 in “Annales d'endocrinologie” This review discusses the pathways of androgen biosynthesis and reports no new findings, highlighting the need to understand the interplay between the classic and backdoor pathways.
8 citations
,
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study provides definitive evidence that a homozygous mutation in the DSC3 gene causes skin fragility and hypotrichosis in humans.
April 2017 in “Journal of Investigative Dermatology” This study identified the dermal sheath as a key component of the hair follicle niche, essential for outer root sheath regression during the hair cycle, highlighting its importance in hair follicle support and regulation.
March 2009 in “Prenatal Diagnosis” This paper discusses the management of pregnancy in a carrier of the Donohue mutation and reports no new clinical findings.
4 citations
,
January 2017 in “Acta dermato-venereologica” A new EDA gene mutation was found in a Chinese family with a specific skin disorder.
August 2025 in “BMC Pregnancy and Childbirth” In this study, prenatal ultrasonography was found to be a valuable tool for screening ectodermal dysplasia during pregnancy, and a new EDA gene variant associated with X-linked hypohidrotic ectodermal dysplasia was identified, aiding in more accurate diagnoses and reproductive decision-making.
22 citations
,
January 2008 in “Physiological Research” This review discusses the role of steroid sulfatase in steroid hormone metabolism and highlights the need for more research on its expression and regulation, especially regarding hormone-dependent tumors.
November 2024 in “Nanomaterials” This study formulated and characterized a dutasteride-loaded nanocrystalline suspension for long-acting parenteral delivery, finding that it provided sustained drug release in rats with a significant reduction in local inflammation over 28 days following intramuscular injection.
January 2007 in “Edward Elgar eBooks” In this study, overexpressing TSPO in the mouse hippocampal dentate gyrus led to significant anxiolytic and antidepressant-like effects, partly through increased allopregnanolone biosynthesis.