research Skin Signs of Systemic Diseases
Looking at skin can help find and treat serious diseases early.
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research Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome
The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
research Molecular Genetics of Keratinization Disorders: What's New About Ichthyosis
Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
research Genetic Basis of Polycystic Ovary Syndrome
The document concludes that PCOS has a strong genetic component, but more research is needed to fully understand the specific genes involved.
research The Role of P-Cadherin in Skin Biology and Pathology: Lessons from the Hair Follicle
P-cadherin is important for hair growth and health, and its problems can cause hair and skin disorders.
research New Biomarkers to Evaluate Hyperandrogenemic Women and Hypogonadal Men
The document concludes that hormonal biomarkers are key for diagnosing hyperandrogenemia in women and hypogonadism in men.
research Man-Made Disease: Clinical Manifestations of Low Phenylalanine Levels in an Inadequately Treated Phenylketonuria Patient and Mouse Study
Proper diet management is crucial for phenylketonuria patients to avoid severe health issues.
research White Piedra Caused by Trichosporon Inkin: A Report of Two Cases in a Northern Climate
White piedra, a rare fungal infection, was diagnosed in two women in a northern climate.
research Topical Minoxidil Improves Congenital Hypotrichosis Caused by LIPH Mutations
Applying minoxidil can help improve hair growth in people with hair loss caused by LIPH gene mutations.
research Ichthyosis With Confetti: A Rare Diagnosis And Treatment Plan
A rare skin disorder, Ichthyosis with confetti, has no cure but treatment focuses on managing symptoms with moisturizers.
research Keratin Function and Regulation in Tissue Homeostasis and Pathogenesis
Keratin is crucial for keeping skin cells healthy and its changes can lead to diseases and affect cell behavior.
research Formation of the Cornified Envelope
The cornified envelope is crucial for skin's barrier function and involves key proteins and genetic factors.
research Perturbations in Fatty Acid Metabolism and Collagen Production Infer Pathogenicity of a Novel MBTPS2 Variant in Osteogenesis Imperfecta
A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
research 3D Analysis of Facial Morphology in Dutch Children with Cancer
Children with cancer had slightly more unusual facial shapes than healthy kids, but not enough to easily tell them apart.
research Current Genetics in Hair Diseases
Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
research Type A Insulin Resistance Syndrome Due to a Novel Heterozygous c.3486_3503del (p. Arg1163_Ala1168del) INSR Gene Mutation in an Adolescent Girl and Her Mother
A new gene mutation causes insulin resistance in a girl and her mother.
research Localized Hypotrichosis Type 1 Due to Intragenic Deletion of Exons 5-8 in Desmoglein Gene in a Neonate from Indian Family
A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
research A Brazilian Case of IFAP Syndrome With Severe Congenital Ichthyosis and Limb Malformations Caused by a Rare Variant in MBTPS2
A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
research Longitudinal Clinical Course in Patients With 5α-Reductase Type 2 Deficiency Treated With Testosterone and Dihydrotestosterone During Infancy and Puberty
Testosterone and dihydrotestosterone treatments can help with penile growth in males with 5α-reductase type 2 deficiency, with dihydrotestosterone being more effective in infancy.
research Case Report: Bi-Allelic Missense Variant in the Desmocollin 3 Gene Causes Hypotrichosis and Recurrent Skin Vesicles
A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
research Hair Disorders
Understanding normal hair growth and loss in children is key to diagnosing and treating hair disorders.
research Structural and Functional Studies of L-PGDS and SMPDL3A Enzymes in Lipid Signaling Family
L-PGDS has specific binding sites for its functions and could help in drug delivery system design.
research Oral Presentations: Findings from Dermatological Studies
The document concludes that an experimental drug may help wound healing in Epidermolysis Bullosa, links Hydroa vacciniforme to EBV, discusses diagnosing hair loss disorders, finds many children with eczema have allergies, reviews the safety of a skin medication in children, notes side effects of a Duchenne's treatment, and identifies a marker for pediatric mastocytosis.
research Triptolide Shows Strong Efficacy and Safe Profile in Topical Treatment of Actinic Keratosis Lesions in UV-B-Induced Mouse Model
Triptolide effectively and safely reduces actinic keratosis lesions in mice.
research Influence of Bovine Milk Oligosaccharides on Sebocyte Lipid Content and Inflammatory Mediators
Cow milk sugars increase fat production and inflammation in skin oil cells.
research Syndactyly Type III and Hypotrichosis in Oculodentodigital Syndrome with GJA1 Mutation
A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
research Molecular Network of Smads and Id2 Genes in Hair Follicle Stem Cells Regulation
The BMP/Smads pathway and Id2 gene control hair follicle stem cells, affecting their rest and growth phases.
research Hair Follicle Bulb Developed as 3D Scaffold-Free Microtissue
Scientists created a tiny, 3D model of a hair follicle that grows and acts like a real one.
research Comparison of Comedolytic Effect of Benzoyl Peroxide and Adapalene in Rhino Mice
Benzoyl peroxide and adapalene gels work differently to reduce acne in mice.
research Genetic Defects of Female Sexual Differentiation
Genetic mutations can affect female sexual development, requiring personalized medical care.