Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This case report presents the dental challenges faced by a child with vitamin D-dependent rickets type II, including early onset rickets, alopecia, and specific dental abnormalities, emphasizing the need for comprehensive, multidisciplinary management.

This study reports that Ca 2+ binding alters the dynamics and surface properties of PKD-like domains in Clostridium histolyticum collagenases, enhancing their stability and potentially aiding in collagen-targeting vehicle development.

In this study, researchers used a CRISPR-based method to correct mutations in the COL7A1 gene in stem cells from RDEB patients, restoring normal collagen expression in engineered skin grafts in mice.

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 specific Y-chromosome alleles may influence susceptibility to prostate cancer in Iraqi males, suggesting their potential use in screening for the disease.

In these two clinical trials, DS-2325a, a KLK5 inhibitor, was found to be generally safe and well tolerated in healthy volunteers, with mild and non-serious adverse events, suggesting its potential for further development as a treatment for Netherton Syndrome.

This study reports on eight previously unpublished cases of Bohring-Opitz syndrome with ASXL1 mutations, suggesting the importance of screening for Wilms tumors in these patients.

This study found that the vitamin D receptor, but not its ligand, regulates genes involved in hair cycle progression, suggesting a role in integrating hormone signaling pathways for hair and epidermal functions.

This article defines body dysmorphic disorder as excessive concern over perceived physical defects that cause distress and affect social or functional activities, but it reports no new results.

This study used whole-genome resequencing to analyze genetic diversity and selection in 17 rabbit breeds, identifying genes linked to traits like coat color and body size, which could inform breeding and conservation efforts.

This study reports that the Swedish newborn screening program for phenylketonuria, galactosaemia, and biotinidase deficiency is effective, with high sensitivity and specificity, and lower false positive rates compared to other countries, while genetic variants impact detection and incidence patterns in Sweden.

This study observed that in human scalp hair follicles, BTNL2 expression is lower in stressed conditions, which correlates with increased cytotoxic activity by gamma/delta and CD8+ T cells, suggesting a possible role for BTNL2 in controlling immune responses relevant to alopecia areata.

This review provides an overview of the molecular evolution of corneous beta-proteins in reptiles and birds, highlighting their distinct genetic origin and role in epidermal structures, but reports no new results.

This abstract provides no results or study findings; it only includes author affiliations and general commentary.

The researchers reported that DHT-inducible DKK-1 may play a significant role in DHT-driven balding by inhibiting hair follicle cell growth and promoting apoptosis in androgenetic alopecia.

In this study, researchers identified 47 proteins associated with male pattern baldness severity and prioritized five candidate genes, including druggable CD38, suggesting new non-hormonal targets for therapeutic development.

This study demonstrated that a metric based on rotational echo intensity in 2H magic-angle spinning NMR can derive kinetic information for conformational exchange without complex modelling, achieving activation barriers consistent with prior findings.

This case report describes a newborn diagnosed with dominant dystrophic epidermolysis bullosa due to a COL7A1 mutation, following the presentation of blisters that healed without further complications.

This study found that Platelet Rich Plasma is effective as a direct pulp capping agent, comparable to Mineral Trioxide Aggregate, but with potentially better cellular dentinogenic responses and homogenous tissue formation in dogs.

This study found that using hair steroid profiling, dutasteride treatment led to reduced dihydrotestosterone levels and DHT/testosterone ratio in patients with male-pattern baldness.

This study found that during dialysis, lower plasma-potassium levels were associated with hyperglycemia, suggesting potassium correction is vital when using glucose-rich dialysate.

This article summarizes highlights from the 40th Annual DNA Convention, covering various dermatology topics, but it does not report new clinical results.

This source presents the Drug Database for Hair Loss Disorders, offering comprehensive details about pharmacological agents for treating hair loss conditions, including information on chemical properties, efficacy, and safety, aimed at supporting research and drug development.

In this study of Danioninae species, researchers reported that the presence of breeding tubercles on the pectoral fins is conserved in certain species and linked to local androgen conversion, with steroid 5-α-reductase playing a crucial role in their development.

In this study, researchers identified a novel p.R50X mutation in the vitamin D receptor gene, linked to hereditary vitamin D-resistant rickets in two siblings.