Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This study reports a novel missense mutation in the HR gene in a 68-year-old Hungarian woman with alopecia universalis and limb deformities, suggesting a need for further research on its role in these conditions.

This article reviews how the skin's peripheral stress response system mirrors the central HPA axis, facilitating local homeostasis under stress, but presents no new findings.

This review discusses Chrousos syndrome, a rare condition caused by NR 3C1 gene mutations leading to glucocorticoid resistance, and reports no new clinical results; early identification and genetic testing are recommended for diagnosis.

This study suggests that hair cortisol measurement could serve as an alternative diagnostic method for Cushing’s disease, showing acceptable concordance with urinary free cortisol despite differing evaluated periods.

This study reviewed the current understanding of congenital adrenal hyperplasia from 21-hydroxylase deficiency, highlighting the impact of universal newborn screening in reducing mortality and discussing ongoing treatment challenges and future therapeutic prospects.

In this study, eight patients with hereditary vitamin D-resistant rickets who share a specific VDR mutation showed improved clinical symptoms except alopecia after up to 11 years of treatment.

This study found that a newly identified mutation in the hairless gene in mice led to decreased Hr mRNA levels and changes in gene expression related to hair follicle development.

This study found that most pathogenic HR mutants associated with atrichia with papular lesions had abolished corepressor activity due to defective interactions with histone deacetylases.

This study identified a novel insertion mutation in the hairless gene that may contribute to the development of congenital atrichia with papular lesions in a Pakistani family.

This study reported a case of hereditary vitamin D–resistant rickets caused by a single heterozygous missense mutation in the VDR gene, showing dominant-negative effects and reduced response to 1,25-dihydroxyvitamin D3.

This study found that cortisone reductase deficiency is caused by inactivating mutations in the H6PD gene, affecting cortisol metabolism by preventing 11β-HSD1 enzyme function.

This review discusses the diagnosis and treatment of 21-hydroxylase deficiency in congenital adrenal hyperplasia and emphasizes the need for earlier detection and proper management; it reports no clinical results.

In this retrospective study of eight Saudi children with hereditary vitamin D resistant rickets, researchers observed that adjunctive cinacalcet appeared safe and showed initial promise in improving serum PTH levels, though further investigation is needed to confirm its efficacy.

In this study, a novel VDR gene mutation was identified in a child with HVDRR, and the researchers observed that high-dose intravenous calcium therapy led to significant and sustained improvement in rickets symptoms.

This review examines the role of Hairless, a nuclear receptor corepressor, in regulating Wnt signaling during hair cycling and reports no new clinical results.

Hair cortisol concentration partly reflects HPA axis regulation but doesn't capture all its complexities.

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.

This study found that hormone replacement therapy was associated with reduced COVID-19 mortality and adverse outcomes in nonimmunosuppressed postmenopausal women and immunocompromised male solid organ transplant recipients.

This study describes a patient with hereditary vitamin D resistant rickets (HVDRR) who, despite having a truncated vitamin D receptor, did not exhibit typical hair or skin abnormalities, suggesting possible compensation via interactions with other proteins.

This study demonstrates that miniaturized hair follicles in female pattern hair loss overexpress nuclear aryl hydrocarbon receptors, suggesting a potential role for environmental pollutants in this condition.

This study found that mitochondrial dysfunction due to Crif1 deficiency in hair follicle stem cells significantly slows the hair growth cycle in adult mice but does not impact the maintenance of HFSC populations.

Deleting Crif1 in mouse skin disrupts skin balance and hair growth.

This review discusses the role of the CRH–ACTH–cortisol axis in skin function and its potential link to stress-related skin and hair conditions, and reports no new experimental results.

In this study, researchers observed a curvilinear relationship between loneliness and hair cortisol concentration among older adults at elevated cardiovascular risk, with cortisol levels higher at low-to-moderate loneliness and lower at higher loneliness, though results were sensitive to some data exclusions.

This paper describes the hGRα gene structure and its expression, focusing on the functional properties of the longest GRα isoform, but reports no new results.

This review examines complex regional pain syndrome (CRPS I) mechanisms, including immune dysregulation and psychological factors, but reports no new clinical results; the authors highlight potential diagnostic refinements.

This study suggests that hydroxypinacolone retinoate (HPR) may be an effective alternative to tretinoin for anti-aging skin treatments, offering similar collagen production benefits without increased skin irritation.

This study found that CTHRC1 is crucial for sweat gland function and vascular network integrity in mice, and its administration improved sweat gland performance by reconstructing nearby blood vessels.

This study identified the genes for pyochelin siderophore biosynthesis as a novel target regulated by the heme-responsive PrrH sRNA in Pseudomonas aeruginosa.