research Expanding the Phenotype: Four New Cases and Hope for Treatment in Bachmann-Bupp Syndrome
Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
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120-150 / 156 resultsresearch An Early Diagnosis of Trichorhinophalangeal Syndrome Type 1: A Case Report and Review of Literature
Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.
research Scabicidal Potential of Coconut Seed Extract in Rabbits via Downregulating Inflammatory/Immune Cross-Talk: A Comprehensive Phytochemical/GC-MS and In Silico Proof
Coconut seed extract may effectively treat scabies in rabbits by killing mites and reducing inflammation.
research Shortcutting the Diagnostic Odyssey: The Multidisciplinary Program for Undiagnosed Rare Diseases in Adults (UD-PrOZA)
The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.
research Clinical, Biochemical, and Mutational Findings in Biotinidase Deficiency Among Malaysian Population
Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.
research The Physicochemical, Biopharmaceutical, and In Vitro Efficacy Properties of Freeze-Dried Dexamethasone-Loaded Lipomers
Freeze-dried dexamethasone nanoparticles in a hydrogel are stable and effective for treating alopecia areata.
research Cell Surface B2m-Free Human Leukocyte Antigen Monomers and Dimers: Are They Neo-HLA Class and Proto-HLA?
B2m-free HLA variants may be a new class of HLA important in immune responses and diseases.
research Identification of Beta-Sitosterol and Stigmasterol as Possible Inhibitors of 5 Alpha-Reductase 1: An In-Silico Study
Beta-sitosterol and stigmasterol might help prevent hair loss by blocking a specific enzyme.
research Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome
A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
research A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia
A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.
research Transgenerational Transmission of Reproductive and Metabolic Dysfunction in Male Progeny of Polycystic Ovary Syndrome
Sons of mothers with polycystic ovary syndrome (PCOS) have a higher risk of obesity and insulin resistance, possibly due to certain genes and factors passed down from their mothers.
research Enzymes
Enzymes are classified into six types and are essential for many biological processes, with only a few targeted by drugs.
research Logic-Based Modeling and Drug Repurposing for the Prediction of Novel Therapeutic Targets and Combination Regimens Against E2F1-Driven Melanoma Progression
Tadalafil and Finasteride may help treat aggressive melanoma.
research Deficient Anterior Pituitary With Common Variable Immune Deficiency (David Syndrome): A New Case and Literature Reports
DAVID syndrome is a condition with immune system and hormone deficiencies, needing early diagnosis to avoid serious complications.
research Abstracts From The 55th European Society Of Human Genetics Conference: E-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
research Anti-Alopecia Activity of Alkaloids from Noni Fruit Against Dihydrotestosterone-Induced Male Rabbits and Its Molecular Mechanism: In Vivo and In Silico Studies
Noni fruit extract, specifically the FEA-3 sub-fraction, can increase hair growth and reduce baldness in male rabbits, potentially acting like common hair loss treatments.
research Astilbin Activates the Reactive Oxidative Species/PPARγ Pathway to Suppress Effector CD4+ T Cell Activities via Direct Binding With Cytochrome P450 1B1
Astilbin can potentially calm overactive immune responses, like in Type 1 Diabetes, by suppressing certain cell activities and reducing inflammation.
research Ligand-Independent Vitamin D Receptor Actions Essential for Keratinocyte Homeostasis in the Skin
Non-liganded Vitamin D Receptor is crucial for healthy skin and hair.
research Dynamics and Epigenetics of the Epidermal Differentiation Complex
Epigenetic mechanisms control skin development by regulating gene expression.
research Overview Of Popular Cosmeceuticals In Dermatology
Many popular skincare products claim to prevent aging but lack strong evidence to prove their effectiveness and safety.
research In Vitro Antibacterial and Antioxidant Activities, Pharmacokinetics, and In Silico Molecular Docking Study of Phytochemicals from the Roots of Ziziphus Spina-Christi
Compounds from Ziziphus spina-christi roots show strong antibacterial and antioxidant potential.
research Marine-Derived Bioactive Peptides in Self-Assembled Multifunctional Materials: Antioxidant and Wound Healing Properties
Peptides from oysters may safely and effectively heal skin wounds with less scarring.
research Pathogenesis and Management of TRPV3-Related Olmsted Syndrome
EGFR and mTOR inhibitors may help manage Olmsted syndrome symptoms.
research Network Pharmacology Reveals Curcuma Aeruginosa Roxb. Regulates MAPK and HIF-1 Pathways to Treat Androgenetic Alopecia
Curcuma aeruginosa Roxb. may help treat hair loss by affecting specific biological pathways.
research Bioprospecting of Potential Inhibitors of 5alpha Reductase 2 from Relevant Ethno-Pharmacological Plants via In Silico Techniques
Three natural compounds from Ghanaian plants may help treat BPH and alopecia.
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 Adsorption of Diclofenac and PFBS on a Hair Keratin Dimer
Human hair keratin might be good for filtering out harmful substances from water.
research Virtual Insights into Natural Compounds as Potential 5α-Reductase Type II Inhibitors: A Structure-Based Screening and Molecular Dynamics Simulation Study
Eriocitrin and silymarin might be effective for hair loss treatment and need more research.
research Twins With Psychiatric Features and a Nonsense HRAS Variant Affecting Transcript Processing
A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
research In Silico Characterization and Analysis of Clinically Significant Variants of Lipase-H (LIPH Gene) Protein Associated with Hypotrichosis
Three specific mutations in the LIPH gene can cause hair loss by damaging the protein's structure and function.