research 565 Cutaneous delivery of LEKTI via an engineered strain of staphylococcus epidermidis for the treatment of netherton syndrome
ATR12-351 ointment safely delivers LEKTI protein to the skin, reducing enzyme activity in Netherton syndrome.
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240-270 / 1000+ resultsresearch A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis–ichthyosis–deafness (KID) syndrome
A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
research Androgenic and anti-androgenic effects of progesterone derivatives with different halogens as substituents at the C-6 position
Different halogens on progesterone derivatives can either block or mimic male hormone effects, depending on their type and amount.
research Transcription Regulation and Protein Subcellular Localization of the Truncated Basic Hair Keratin hHb1-ΔN in Human Breast Cancer Cells
A truncated protein linked to breast cancer may change cell adhesion.
research New clinico‐genetic classification of trichothiodystrophy
A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.
research Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia
Mutations in the HOXC13 gene cause hair and nail development issues.
research Structural Changes of Hair Keratin by Reduction, Heat and subsequent Oxidation Treatments
DTDG in hair treatments reduces damage and preserves hair structure.
research Drug–DrugCoamorphous System of Tadalafil andFinasteride for Enhanced Pharmaceutical Performance
A new combination of tadalafil and finasteride improves drug performance and stability.
research Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair
The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
research Unlocking Dithranol’s Potential: Advanced Drug Delivery Systems for Improved Pharmacokinetics
Advanced delivery systems can make dithranol more effective and less irritating for treating psoriasis.
research DKK4 as a novel candidate marker for Zhexi Angora rabbit wool quality
DKK4 can be used to improve wool quality in Zhexi Angora rabbits.
research Purpose-limited pharmaceutical product claims under the revised European Patent Convention: A camouflaged attack on generic substitution?
The revised European Patent Convention may limit generic drug use, affecting healthcare professionals' treatment choices.
research Mechanistic Approach on the Pulmonary Oxido-Inflammatory Stress Induced by Cobalt Ferrite Nanoparticles in Rats
Daily intake of 0.5 or 5 mg cobalt ferrite nanoparticles can harm lungs through oxidative and inflammatory stress.
research Variability of agronomic characters related to resistance to stem canker (Phytophthora palmivora) on duku (Lansium domesticum) along Batanghari River, Sumatra, Indonesia
Only 5 duku seedlings showed resistance to stem canker, linked to specific mother tree traits.
research DNN-DTIs: improved drug-target interactions prediction using XGBoost feature selection and deep neural network
The DNN-DTIs method accurately predicts drug-target interactions and is useful for drug repositioning.
research Co-operation between follicular ornithine decarboxylase and v-Ha-ras induces spontaneous papillomas and malignant conversion in transgenic skin
High levels of ODC and a mutant Ha-ras gene cause tumors in mice.
research Loss‐of‐function of Endothelin receptor type A results in Oro‐Oto‐Cardiac syndrome
A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
research Ppp2r2a Knockout Mice Reveal That Protein Phosphatase 2A Regulatory Subunit, PP2A-B55α, Is an Essential Regulator of Neuronal and Epidermal Embryonic Development
The PP2A-B55α protein is essential for brain and skin development in embryos.
research A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis
A mutation in the KRT25 gene causes woolly hair and hair loss.
research NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis
The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.
research Mitochondrial DNA 10158T>C mutation in a patient with mitochondrial encephalomyopathy with lactic acidosis, and stroke-like episodes syndrome
A patient with a rare disease had a unique genetic mutation linked to their symptoms.
research Alternative synthesis of the anti-baldness compound RU58841
A new, less toxic and more efficient method to create the anti-baldness compound RU58841 was developed in 2014.
research Identification of a novelPNPLA1mutation in a Spanish family with autosomal recessive congenital ichthyosis
A new gene mutation linked to a skin condition was found in a Spanish family.
research A Founder Mutation in the POMC 5′-UTR Causes Proopiomelanocortin Deficiency Through Splicing-Mediated Decrease of mRNA
A specific genetic mutation causes POMC deficiency, leading to symptoms like weight gain and red hair.
research A combination of low-dose systemic etretinate and topical calcipotriol/betamethasone dipropionate treatment for hyperkeratosis and itching in Olmsted syndrome associated with a TRPV3 mutation
The combined treatment effectively managed severe skin issues in Olmsted syndrome.
research Successful induction of oral tolerance in Netherton syndrome
A girl with Netherton syndrome was able to eat wheat without allergies after a special treatment.
research Design, synthesis and anti-tumor evaluation of novel thiohydantoin congeners as androgen receptor antagonists with in vivo study.
A new compound, 3a, effectively fights prostate cancer better than finasteride.
research Carbon-13 n.m.r. studies of keratin intermediate filament of human hair
Human hair keratin has a 40% α-helix structure that changes to a random coil in 8 M urea.
research Case Report: PTCH1 splice-site mutation and sonidegib treatment in Gorlin-Goltz syndrome: clinical insights from a family case study
Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.
research De novo mutations in monilethrix
Specific keratin gene mutations can cause monilethrix.