research Repigmentation of Leukoderma in a Piebald Patient Associated with a Novel c-KIT Gene Mutation, G592E, of the Tyrosine Kinase Domain
A new gene mutation may allow some piebaldism patients to regain skin color in white patches.
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research Kin-Cohort Analysis of LRRK2-G2019S Penetrance in Parkinson's Disease
The LRRK2-G2019S mutation in Parkinson's disease has a lifetime penetrance of 25-35%, and finasteride may help reduce symptoms in adult male Tourette syndrome patients.
research Interactions of the Vitamin D Receptor with the Corepressor Hairless
Most Hairless gene mutations reduce its ability to work with the Vitamin D Receptor, which might explain a certain type of hair loss.
research Early Dengue Virus Infection in Human Skin: A Cycle of Inflammation and Infectivity
Chicken feather gene mutation helps understand human hair disorders.
research Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities
The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
research No Evidence for THAP1/DYT6 Variants as Disease Modifiers in DYT1 Dystonia
THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.
research Premature Aging Syndromes: From Patients to Mechanism
Studying premature aging syndromes helps understand human aging and suggests potential treatments.
research Pseudo Pemphigus Phenotypes in Mice with Inactivated Desmoglein 3
Mice with a mutated Dsg3 gene showed severe symptoms but not the typical blistering of pemphigus vulgaris.
research Clinical Case Notes: Intraorbital Ophthalmic Artery Aneurysms
Eye exams are crucial for kids with 13q deletion syndrome, tamoxifen can cause vision loss, Propecia may lead to cataracts, Lipoid Proteinosis causes skin bumps, and OCT is useful for diagnosing macular diseases.
research Clinical Case Notes: Retinoblastoma, Microphthalmia, and Chromosome 13q Deletion Syndrome
The document concludes that careful diagnosis is crucial for chromosome 13q deletion syndrome, tamoxifen can cause reversible eye damage, finasteride may be linked to cataracts, and OCT is useful for diagnosing macular diseases.
research Clinical Features of Familial Lewy Body Parkinsonism Caused by α-Synuclein Triplication (Iowa Kindred) with Video Documentation
The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.
research Epidermolysis Bullosa Simplex: A Paradigm for Disorders of Tissue Fragility
Epidermolysis bullosa simplex causes easily blistered skin due to faulty skin cell proteins, leading to new treatment ideas.
research CRISPR/Cas9-Mediated Loss of FGF5 Function Increases Wool Staple Length in Sheep
Disabling the FGF5 gene in sheep leads to longer wool.
research Steroidogenic Factor-1 Lineage Origin of Skin Lesions in Carney Complex Syndrome
Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.
research Inhibition of JAK-STAT Signaling with Baricitinib Reduces Inflammation and Improves Cellular Homeostasis in Progeria Cells
Baricitinib reduces inflammation and improves cell health in premature aging cells.
research An Update on Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.
research Impaired Notch-MKP-1 Signalling in Hidradenitis Suppurativa: An Approach to Pathogenesis by Evidence from Translational Biology
Faulty Notch signalling may cause hair follicle changes and inflammation in hidradenitis suppurativa.
research Clinical Case Notes: Propecia-Associated Bilateral Cataract
Taking Propecia might lead to the development of cataracts.
research Clinical Case Notes: Optical Coherence Tomography of Adult-Onset Foveomacular Vitelliform Dystrophy
Multiple eye conditions were studied, highlighting the importance of various imaging methods for diagnosis, the vision side effects of drugs tamoxifen and Propecia, and the usefulness of optical coherence tomography for diagnosing and monitoring macular and retinal diseases.
research Novel Insights Into the Molecular Mechanisms Underlying Generalized Glucocorticoid Resistance and Hypersensitivity Syndromes
Genetic defects in the glucocorticoid receptor gene can cause conditions with abnormal sensitivity to stress hormones, and other factors may also affect this sensitivity.
research C-MYC-Induced Sebaceous Gland Differentiation Is Controlled by an Androgen Receptor/p53 Axis
The balance between androgen receptor and p53 is crucial for sebaceous gland differentiation.
research 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 Coactivator MED1 Ablation in Keratinocytes Results in Hair-Cycling Defects and Epidermal Alterations
Deleting MED1 in skin cells causes hair loss and skin changes.
research Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.
research Primary Generalized Glucocorticoid Resistance And Hypersensitivity
The conclusion is that genetic changes in the glucocorticoid receptor can lead to conditions affecting stress response, immunity, and metabolism, requiring personalized treatment.
research Epidermal PPARγ Is a Key Homeostatic Regulator of Cutaneous Inflammation and Barrier Function in Mouse Skin
PPARγ is essential for maintaining healthy skin, controlling inflammation, and ensuring proper skin barrier function.
research A Preliminary Study of Finasteride in Tourette Syndrome
Finasteride reduces Tourette syndrome symptoms, but results may be limited due to potential biases.
research Genetics of Structural Hair Disorders
The document concludes that over 500 genes are linked to hair disorders and this knowledge is important for creating new treatments.
research New Insights Into Testosterone Biosynthesis: Novel Observations From HSD17B3 Deficient Mice
Mice without the enzyme HSD17B3 still produce normal testosterone, suggesting they have different ways to make it compared to humans.
research News in Brief
Researchers discovered potential origins and new treatments for skin cancer, including biomarkers for melanoma and therapies that reduce tumor growth.