Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

The document concludes that detailed clinical descriptions of seven family cases help understand dominant dystrophic epidermolysis bullosa's symptoms and inheritance.

The congress highlighted new gene therapy techniques and cell transplantation methods for treating diseases.

This study found that the novel dermal cooling system was an effective and safe treatment for reducing pigmentation in benign pigmented lesions in Asian patients, with minimal side effects.

This study found that CRISPR/Cas9 efficiently edited two cellulose synthase-like genes in spinach, significantly altering root hair growth patterns and suggesting potential for large-scale genome editing in this crop.

In this study, engineered mice with a mutation similar to that in Olmsted syndrome showed progressive hair loss due to impaired inner root sheath keratinocyte differentiation and stem cell exhaustion.

This article describes a case of dyschromatosis universalis in a young Saudi Arabian girl, discussing similar cases reported outside the Far East where the condition was initially identified, but provides no new research findings.

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.

This study reported that mSKPs and DMSCs share similarities in biological characteristics but exhibit distinct transcriptome profiles, with mSKPs being more immune-related and DMSCs more associated with differentiation and disease pathways.

This study describes a capillary GC method for accurately measuring spermidine levels in hair lotions, confirming its precision and specificity for this application.

This study identified several genes regulated by dihydrotestosterone in an SV40T-transformed human dermal papilla cell line, which may play a role in androgen-mediated hair growth regulation.

This discussion reviews the shift in pharmaceutical strategy towards evidence-based and structure-guided drug development, highlighting ongoing challenges and efforts in computer-aided drug design without presenting new clinical results.

This case report describes a 4.5-year-old boy with steroid-resistant nephrotic syndrome linked to X-linked recessive ichthyosis, where remission was achieved using cyclosporine, suggesting STS deficiency as a potential genetic cause of the condition.

This report describes an exceptionally rare adrenal neoplasm in a post-menopausal woman that exclusively secreted DHEA-S, with significant serum level reduction following adrenalectomy.

GABAergic steroid precursors reduce ethanol withdrawal symptoms in certain mice.

This study observed that higher childhood levels of DHEAS were associated with more advanced pubertal development and correlated with changes in DNA methylation near puberty-related genes in both boys and girls, potentially explaining the hormone's influence on puberty.

This report describes a case of Birt-Hogg-Dube syndrome with manifestations including multiple fibrofolliculomas, acrochordons, and renal oncocytoma.

This study found that immune-mediated destruction of bulge stem cells is a key factor in the alopecia observed in AE mice, suggesting it as a model for studying primary cicatricial alopecias, particularly lichen planopilaris.

This study found that prostaglandin D2 increases testosterone production in human keratinocytes through a mechanism involving ROS and REDOX potential, which could inform treatments for androgenic alopecia.

This study found that topical application of N,N-dimethylglycine sodium salt increased dermal blood flow and velocity in human subjects, likely through its effects on endothelial cells and NO-dependent vasodilation.

This case report illustrates how SNP array testing helped identify a DCAF17 mutation linked to Woodhouse-Sakati syndrome in consanguineous Qatari siblings with shared features including alopecia and hypogonadotropic hypogonadism.

This study found that desmocollin 1 is crucial for strong adhesion and barrier maintenance in the mouse epidermis, with its absence leading to skin and hair issues resembling chronic dermatitis.

Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.

This review summarizes the pathophysiology and immune mechanisms of inflammatory skin diseases like psoriasis and atopic dermatitis, highlighting the therapeutic potential of targeted immunotherapies, but reports no new clinical results.

This study identifies KLK14 as a significant factor contributing to hair defects and skin inflammation in a mouse model of Netherton syndrome.

This study explored the molecular communication between hair matrix cells and dermal papilla cells in cashmere goats, revealing key ligand-receptor pairs and signaling pathways that facilitate intercellular crosstalk and potentially influence hair growth mechanisms.

The researchers investigated a Maine Coon cat with suspected classical Ehlers-Danlos Syndrome and discovered a heterozygous deletion in the COL5A1 gene, underscoring the value of whole-genome sequencing for precise veterinary diagnostics.

In this study, the researchers observed that the severity of capecitabine-induced hand-foot syndrome in advanced gastric cancer patients was not linked to the IVS14+1G→A mutation in the DPYD gene.

In this study, researchers found that disrupting desmoglein 3 signaling in a mouse model of pemphigus vulgaris activates normally quiescent hair follicle stem cells, compromising their multipotency but prompting a regenerative response that restores stem cell function and structures.

This study found that Finasteride at doses of 5 mg or higher may reduce the expression of key spermatogenesis biomarkers, potentially impacting male fertility in mice.

This study found that patients with Stevens-Johnson syndrome and toxic epidermal necrolysis exhibit lower levels and activity of DNase1, impairing NET degradation, and suggests DNase1 administration as a potential treatment.