Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This study found that sodium metabisulfite activates sodium channels and increases cellular excitability and excitotoxicity in both cardiomyocyte and neuron models, which exacerbates seizures and neuronal damage in rats.

This study suggests that patients with STSD show a different pattern in androgen activation compared to healthy controls, potentially due to increased 5α-reductase activity and absent prepubertal serum DHEA surge.

This review discusses the role of corneodesmosin in skin and hair follicle integrity, with mentions of its link to hypotrichosis simplex and peeling skin disease, and reports no new results.

This article reviews Netherton syndrome, focusing on its genetic basis, clinical presentation, and treatment options, and reports no clinical results; the authors mention potential benefits of targeted therapies and gene therapy.

This report details a case of severe recurrent bacterial vaginosis in a woman with Netherton's syndrome.

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 laboratory tests and mouse models, this study found that the novel IPC analog SIG-1451 may offer potent anti-inflammatory effects for treating allergic skin inflammation, potentially outperforming some current therapies in specific inflammatory phases.

Mouse Scube3 affects teeth, tongue, vibrissae, and eye development, but not facial structure or limb growth.

This abstract discusses Netherton Syndrome, a genetic disorder with a characteristic triad of symptoms caused by SPINK5 gene mutation, and reports no new clinical findings or treatment advances.

This study reports that a 9-week-old infant with Netherton syndrome showed rapid and sustained symptom improvement, including skin microbiome normalization and developmental progress, after off-label dupilumab treatment, without adverse reactions.

This study observed that ultrastructural changes like lamellar bodies and electron-dense granules in the stratum corneum may aid in the early diagnosis of Netherton syndrome.

This study found that previously undescribed WNT10A mutations are a prominent cause of various forms of ectodermal dysplasia, including OODD and Schöpf-Schulz-Passarge syndrome, with gender-specific phenotypic effects noted.

The researchers reported that silencing the NtNCED3-2 gene in tobacco reduced ABA content and drought tolerance, inhibited root and leaf development, and decreased photosynthetic ability due to altered isoprenoid metabolism.

This case report highlights a 7-year-old boy with suspected Netherton syndrome who presented with itchy lesions, hair abnormalities, and elevated immunoglobulin E levels. The authors report complete resolution of symptoms with oral Acitretin after failed methotrexate treatment.

This study reported that newly developed quaternary ammonium chitosan/carboxymethyl starch/alginate sponges effectively inhibit bacterial growth and promote rapid hemostasis in wound management after tooth extraction in animal models, showing significant promise for clinical use in preventing complications like dry socket.

This study identified genetic variations in the DSG4 gene among sheep, revealing valuable markers for assessing their impact on wool traits.

This study identifies a new mutation in the Scd1 gene in a strain of Kunming mice, causing skin and hair defects with the mildest impact among similar mutations.

The study reported a significant genotype–phenotype correlation in prepubescent males with XLHED, particularly in the severity of skin and hair manifestations between those with different EDA mutations.

This review discusses the medicinal chemistry of steroid sulfatase inhibitors for estrogen- and androgen-dependent disorders but reports no new clinical results.

This review discusses various microneedle technologies for long-acting drug delivery, highlighting design considerations and challenges in bringing these minimally invasive devices to market, but it reports no new clinical results.

This review discusses the development and potential therapeutic applications of steroid sulfatase inhibitors for hormone-dependent disorders and cognitive dysfunction, reporting no new clinical results.

This study suggests that macrophages, particularly CD206⁺ macrophages, play a crucial role in squaric acid dibutylester-induced hair growth in alopecia areata treatment.

This study found that SER120 nasal spray significantly improved nocturia symptoms and quality of life compared to placebo in patients 50 years and older, with both tested doses showing efficacy and an acceptable safety profile over a 12-week period.

In this report, researchers describe a 13-month-old with neurodevelopmental disorder NEDESBA, confirming a TRAPPC4 gene mutation as the cause after excluding biotinidase deficiency, highlighting the importance of molecular testing for accurate diagnosis in overlapping metabolic and genetic conditions.

This study reports a rare cluster of four patients with ectodermal dysplasia, highlighting its typical dental and dermatological manifestations and the necessity of multidisciplinary management.

This review discusses recent advancements in omics and gene editing technologies for studying neuropeptides and receptors in fish, but reports no new experimental findings; the authors highlight the need for further research in this area.

This study found that overexpression of NSD3 in the mammary gland of transgenic mice led to mammary hyperplasia, dysplasia, and invasive ductal carcinoma, mirroring patterns seen in human breast cancer.

Slug (Snai2) helps regulate hair growth timing in mice.

This review discusses the complex role of the EDA pathway in vertebrate skeletal development, emphasizing its interaction with other morphogenic pathways to influence skeletal diversity, but reports no new experimental results.

This research discusses Stevens-Johnson syndrome and toxic epidermal necrolysis, life-threatening conditions often induced by immune-mediated drug reactions. Optimal management involves early diagnosis, drug withdrawal, and supportive therapy, though evidence for systemic treatments like corticosteroids and cyclosporin remains variable and lacks randomized controlled trial confirmation.