September 2023 in “Journal of the American Academy of Dermatology” In this study, no significant differences in hidradenitis suppurativa severity or testosterone levels were found between women with and without polycystic ovary syndrome, suggesting PCOS does not predict poor prognosis in HS patients.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that skin organoids derived from iPSCs with an HS-associated NCSTN mutation showed defects in hair follicle stem cell differentiation and increased expression of inflammatory proteins related to hidradenitis suppurativa.
50 citations
,
February 2007 in “The Journal of Pathology” This study found a rare germline mutation in the Birt–Hogg–Dubé gene in a Japanese patient with renal cell carcinoma, suggesting distinct biological features and challenging current renal tumor classifications.
September 2023 in “Journal of the American Academy of Dermatology” This study found that 4-(ethoxycarbophenyl) retinamide (RI) exhibited significantly lower acute, subacute, and chronic toxicity compared to other retinoids in mouse and rat models.
8 citations
,
January 2012 in “General and Comparative Endocrinology” 5α-Reductase helps regulate hormone action in toad testes, especially during breeding season.
35 citations
,
March 2013 in “American Journal of Medical Genetics Part B Neuropsychiatric Genetics” This study found that a genetic variation in SRD5A2 influences the severity of PTSD symptoms in a sex-specific manner among traumatized African-American males.
24 citations
,
June 2012 in “BMC Research Notes” This study outlines the Human Gene Correlation Analysis tool, which classifies human genes by coexpression levels and identifies overrepresented annotation terms in correlated gene groups, with no new clinical results reported.
June 2021 in “International journal of research in dermatology” This report describes a child and his father with hereditary hypotrichosis simplex, an uncommon isolated form of hair loss, with no other ectodermal or systemic abnormalities noted.
November 2014 in “Hair transplant forum international” This article features a profile of the ABHRS/IBHRS as part of a series on regional societies and reports no new clinical findings.
2 citations
,
July 2024 in “Journal of the American Academy of Dermatology” Elderly patients have more severe hidradenitis suppurativa and may need different treatments.
9 citations
,
March 2023 in “GeroScience” 9 citations
,
June 2017 in “American journal of ophthalmology. Case reports” This case report identifies a novel CDH3 gene mutation associated with hypotrichosis with juvenile macular dystrophy in a 13-year-old Turkish girl, highlighting implications for future genetic analysis and counseling.
1 citations
,
October 2024 in “JCEM Case Reports” In this case report, a patient with pseudovaginal perineoscrotal hypospadias due to 5α-reductase deficiency presented gender dysphoria, and after genomic sequencing confirmation, injectable testosterone undecanoate treatment successfully developed desired male secondary sexual characteristics.
September 2024 in “Journal of the American Academy of Dermatology” PRO-C22 can help diagnose and monitor the severity of hidradenitis suppurativa.
1 citations
,
January 2020 in “Skin appendage disorders” This case study documents the co-existence of trichorhinophalangeal syndrome and loose anagen syndrome in a patient, highlighting a previously unreported association between the two conditions.
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.
2 citations
,
January 2014 in “Medical Principles and Practice” This study found that patients with rosacea had significantly more radiological evidence of chronic rhinosinusitis, and erythematotelangiectatic severity was associated with CRS.
72 citations
,
February 1990 in “British Journal of Clinical Pharmacology” This study found that concentrations of haloperidol and its metabolite in human scalp hair significantly correlated with the daily dose and plasma trough levels in patients taking haloperidol.
232 citations
,
January 2002 in “Mechanisms of development” This study reports that the differential expression patterns of three retinaldehyde dehydrogenases suggest a regulated need for retinoic acid synthesis in various organs during late mouse organogenesis.
112 citations
,
August 2012 in “The American Journal of Human Genetics” In this study, two unique mutations in the RBPJ gene were identified and linked to Adams-Oliver syndrome, confirming impaired DNA binding of mutated RBPJ as a factor in this rare genetic disorder.
5 citations
,
July 2022 in “Orphanet journal of rare diseases” This study found that RSPO1 mutations in patients with a 46XX disorder of sexual development contribute to impaired skin integrity and increased risk of squamous cell carcinoma in areas subject to friction.
September 2013 in “Hair transplant forum international” This article discusses the formation and membership of the British Association of Hair Restoration Surgeons and reports no clinical findings.
216 citations
,
June 2015 in “PLANT PHYSIOLOGY” This study found that OsPHR3 overexpression in rice led to significant tolerance to low-phosphorus stress and normal growth under normal conditions, suggesting its potential for improving phosphorus uptake efficiency.
49 citations
,
April 1997 in “Human reproduction” This study found that both a high dose of CPA and GnRHa are effective for treating hirsutism in hyperandrogenic women, but GnRHa with add-back therapy may lead to a longer remission period.
3 citations
,
January 1992 in “Clinical Pediatric Endocrinology” This study observed wide clinical diversity among five patients with the same VDR gene mutation causing vitamin D-dependent rickets type II, suggesting involvement of a nuclear accessory factor and a nongenomic action of the vitamin.
37 citations
,
December 2003 in “Reproductive Toxicology” The researchers reported that the rat Hershberger assay reliably detected endocrine-disrupting effects of finasteride, procymidone, and 17α-methyltestosterone, validating the assay's sensitivity for identifying hormonal activity.
57 citations
,
August 1997 in “Pediatrics International” This abstract discusses two types of hereditary vitamin D metabolism defects, VDDR I and VDDR II, and reports on their distinct characteristics and treatment responses, without presenting new clinical data.
November 2025 in “International Journal of Clinical Obstetrics and Gynaecology” This study found evidence for a genetic basis of polycystic ovary syndrome, indicating an autosomal dominant pattern of inheritance among first-degree relatives.
2 citations
,
September 2024 in “Diagnostics” This study proposes a new mathematical model, the Harmonic Mean equation, for precisely quantifying nuclear pleomorphism in breast cancer grading, showing high performance with accuracy, recall, specificity, precision, and F1-score metrics.