Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This study reported the first case of a NIPAL4 c.527C>A mutation in Romanian patients with autosomal recessive congenital ichthyosis, finding that NIPAL4 mutations are more common than TGM1 mutations in this population.

This study reports the first identification of the deleterious NIPAL 4 variant, associated with autosomal recessive congenital ichthyosis, in an American Bully and describes its clinical management and follow-up.

This case report describes successful CO2 ablation treatment of porokeratotic adnexal ostial nevus in an 8-year-old boy, with marked improvement over a 12-year follow-up.

This study found that upregulation of NFIC may enhance proliferation and osteogenic/cementogenic differentiation in rat dental follicle cells.

This study reports that the nuclear receptor co-repressor 1 (NCoR1) inhibits cardiac hypertrophy by stabilizing the MEF2 and class II HDACs complex, potentially offering a target for new therapies.

This review discusses the pathophysiology, genetics, and management of nonclassic congenital adrenal hyperplasia, noting subfertility and hormonal issues without providing new clinical results.

This study reported that specific non-coding RNAs may regulate the hair follicle cycle in Angora rabbits by acting as competitive endogenous RNAs, enhancing understanding of ncRNA roles in hair growth.

The study found that, unlike in actinic keratosis and squamous cell carcinoma, basal cell carcinoma tissues showed higher expression of nidogen1 and Col4 in both basement membranes and surrounding stroma compared to normal skin.

This study concluded that there was clear evidence of carcinogenic activity of C.I. Acid Orange 3 in female F344/N rats but not in male rats or B6C3F1 mice of either sex.

This study found that parents identified with cryptic NCCAH through genetic testing are mostly asymptomatic but may experience temporary female infertility and require glucocorticoid stress coverage in specific circumstances.

In this study, introducing the rat OTC gene into spf-ash mice led to increased OTC activity and normalized hair growth and biochemical markers like urinary orotic acid and serum citrulline, partially correcting the symptoms of OTC deficiency.

This study found that overexpression of ornithine decarboxylase and activated Ha-ras together led to a high rate of tumor development in a mouse model without additional carcinogens.

In a mouse model study, researchers found that mutations in Aire reduced alopecia areata frequency, while Notch4 mutations did not lead to the disease, likely due to proximity with a resistance gene.

This report describes a neurometabolic disorder linked to gain-of-function variants in the ODC1 gene, characterized by developmental delay, ectodermal abnormalities, and notable facial and neuroimaging features.

This article discusses the diagnostic challenges between certain neonatal scalp conditions and highlights the potential of line-field confocal optical coherence tomography to provide detailed, non-invasive skin examination, without presenting new clinical findings.

This narrative review reflects on the challenges faced by FDA's Oncologic Drugs Advisory Committee members, highlighting public pressure, decision-making complexity, and the evolving landscape of cancer drug development.

The researchers reported that in nonmelanoma skin cancers, the expression of osteopontin splice variants is significantly higher compared to normal skin, with OPN-a elevated in basal cell carcinoma more than OPN-c.

This study suggests that Nox4 is a key factor in the hypoxia-induced enhancement of adipose-derived stem cell functions through reactive oxygen species generation.

This study concluded that acanthosis nigricans in female adolescents with PCOS is a marker of obesity but not an indicator of insulin resistance or glucose intolerance.

This study identifies Armadillo Repeat Only proteins as crucial regulators of plant CNGC channels, influencing various plant functions and showcasing a unique plant-specific role in Ca2+ signaling.

This study in a transgenic mouse model found that repressing overexpression of ornithine decarboxylase reduced papilloma development, indicating its role in tumor promotion sensitivity.

This study observed that PCAT1 and HOTAIR gene expressions were significantly lower in individuals with androgenic alopecia compared to healthy controls, suggesting their potential involvement in the condition's pathogenesis.

This article discusses the creation of Alopecia Areata Uniform Protocols by the National Alopecia Areata Foundation to standardize clinical trials for alopecia areata treatments and reports no new results.

This review examines the epidemiology, pathophysiology, diagnosis, and management strategies for non-classic congenital hyperplasia due to 21-hydroxylase deficiency, and provides evidence-based recommendations for its treatment and genetic counseling.

This study reported that among 10 tested 2-(4-chlorophenyl)-5-aryl-1,3,4-oxadiazole compounds, compound 4c showed the highest activity against cancer cell lines, with a 95.37% average growth rate.

This study suggests that the NGF/TrkA/CREB system plays a crucial role in promoting outer root sheath cell proliferation in cashmere goats, which may aid in marker-assisted breeding.

This abstract reports no new research findings and instead provides information about the JAMA website features and usage terms.

This case report describes a 6 1/2-year-old girl with significant height growth and early pubic hair development.

This study found that IL-4 VNTR intron 3 and TNF-α (rs1799964) gene polymorphisms do not have a significant association with alopecia areata susceptibility in the Egyptian population.