research Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features
A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
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960-990 / 1000+ resultsresearch Heterogeneity in the genetic alterations and in the clinical presentation of acrodermatitis enteropathic: Case report and review of the literature
AE can have varied symptoms and genetic causes, but zinc therapy helps.
research Morpho-Regulation of Ectodermal Organs
Modulating BMP activity changes the number, size, shape, and type of ectodermal organs.
research Two Hypomorphic Alleles of Mouse Ass1 as a New Animal Model of Citrullinemia Type I and Other Hyperammonemic Syndromes
Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
research Autophagy critically controls skin inflammation and apoptosis-induced stem cell activation
Autophagy helps control skin inflammation and cancer responses and regulates hair growth by affecting stem cell activity.
research GENOTYPE ? PHENOTYPE CORRELATIONS IN CUTANEOUS MELANOMA PATIENTS CARRIER OF THE MITF p.E318K PATHOGENIC VARIANT
MITF+ melanoma patients are more likely to have multiple melanomas and unique skin patterns.
research Cleave but not leave: Astrotactin proteins in development and disease
Astrotactin proteins are important for brain and skin development and are linked to several neurodevelopmental disorders.
research Colourless side of the nude mutation: Foxn1 and hair pigmentation
Foxn1 is essential for hair pigmentation by directing pigment transfer to hair cells.
research Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu LMNA mutation and in their asymptomatic heterozygotic mothers
The LMNA mutation affects skin structure even in asymptomatic carriers.
research DEFINING THE ROLE OF ABI1 GENE IN PROSTATE CANCER PROGRESSION AND TREATMENT RESISTANCE
The ABI1 gene contributes to prostate cancer progression and treatment resistance.
research Novel compound heterozygous mutations in thedesmoplakingene cause hair shaft abnormalities and culminate in lethal cardiomyopathy
Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.
research Overcoming genetic drivers in alopecia areata: hair regrowth in a patient with AIRE gene mutation (autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy, APECED syndrome) treated with ruxolitinib
Ruxolitinib helped a patient with alopecia areata regrow hair.
research A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance
A new mutation in the KRT86 gene causes a hair disorder with variable expression.
research Deciphering the pathogenesis of central centrifugal cicatricial alopecia
Mutations in the PADI3 gene may cause central centrifugal cicatricial alopecia in women of African ancestry.
research Gsdma3 Mutation Causes Bulge Stem Cell Depletion and Alopecia Mediated by Skin Inflammation
A Gsdma3 mutation causes hair loss due to stem cell damage from skin inflammation.
research Rapp-Hodgkin syndrome: A review of the aspects of hair and hair color
Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.
research Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations
FOXN1 mutations can cause varying immune and physical issues, with severity influenced by gene activity and possibly other factors.
research Expanding the Scope of PROTACs: Opportunities and Challenges in Topical Delivery
Topical PROTACs show promise for treating skin conditions but need better stability and delivery methods.
research Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies
New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
research Root hair growth in Arabidopsis thaliana is directed by calcium and an endogenous polarity
Calcium affects where root hairs grow, but other unknown factors determine their growth direction.
research The effect of metformin on hirsutism in polycystic ovary syndrome
Metformin improves hair growth and menstrual frequency in women with PCOS and hirsutism.
research Evaluation and diagnosis of the hair loss patient
To diagnose hair loss, use a systematic approach including history, exams, and tests.
research Safety of dermatologic medications in pregnancy and lactation
Most dermatologic medications are safe during pregnancy and breastfeeding, but some should be avoided due to potential risks.
research Evaluation and diagnosis of the hair loss patient
Trichoscopy is a quick, cost-effective tool for diagnosing different hair loss conditions.
research Hormonal activity in commonly used Black hair care products: evaluating hormone disruption as a plausible contribution to health disparities
Common Black hair care products may affect hormone levels and potentially impact health, especially in reproductive and metabolic areas.
research The Art of Repair in Surgical Hair Restoration–Part II
Successful surgical hair restoration requires careful planning, precise execution, and proper aftercare, using techniques like follicular unit transplantation and correct hair angling for best cosmetic results.
research Effects of Egg Shell Membrane Hydrolysates on UVB-radiation-induced Wrinkle Formation in SKH-1 Hairless Mice
Egg shell membrane hydrolysates can reduce wrinkles and improve skin health.
research Photostability and toxicity of finasteride, diclofenac and naproxen under simulating sunlight exposure: evaluation of the toxicity trend and of the packaging photoprotection
Sunlight exposure increases drug toxicity; amber glass best for protection.
research Non-thermal plasma promotes hair growth by improving the inter-follicular macroenvironment
Non-thermal plasma helps hair grow by improving the area around hair follicles.
research Flow-guided hair removal for automated skin lesion identification
The new method removes hair from skin images quickly and accurately to help identify skin lesions better.