research Keratosis Follicularis Spinulosa Decalvans: A Family Study of Seven Male Cases and Six Female Carriers
The study found that males with KFSD had severe skin and eye symptoms, while female carriers had milder symptoms.
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research Protoporphyrin IX: The Good, the Bad, and the Ugly
Protoporphyrin IX is useful in cancer treatment but can cause health problems if not properly regulated.
research Ichthyosis Follicularis with Alopecia and Photophobia Syndrome (IFAP): A Case Report and Review of the Literature
The document describes a rare case of IFAP syndrome, a genetic condition with symptoms of hair loss, light sensitivity, and scaly skin.
research NEMO Syndrome (Incontinentia Pigmenti) and Systemic Lupus Erythematosus: A New Disease Association
NEMO syndrome and systemic lupus erythematosus are linked in a new disease association.
research Polymorphism of CAG and GGN Repeats of Androgen Receptor Gene in Women with Polycystic Ovary Syndrome
Longer GGN repeats in the androgen receptor gene are linked to polycystic ovary syndrome.
research Spermidine/Spermine-N1-Acetyltransferase: A Key Metabolic Regulator
SSAT is a key enzyme affecting cell growth and metabolism, with potential but risky use in disease treatment.
research Cicatricial Alopecia Research Foundation Meeting, May 2016: Progress Towards the Diagnosis, Treatment, and Cure of Primary Cicatricial Alopecias
The meeting focused on understanding, diagnosing, and finding treatments for irreversible hair loss diseases.
research Hutchinson-Gilford Progeria Syndrome: Current Status and Prospects for Gene Therapy Treatment
Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
research Is Early Onset Androgenic Alopecia a Marker of Metabolic Syndrome and Carotid Artery Atherosclerosis in Young Indian Male Patients?
Early balding in young Indian men may indicate a higher risk of metabolic syndrome and potential heart disease.
research Trans-Species Hair Growth Induction by Human Hair Follicle Dermal Papillae
Human hair follicle cells can grow hair when put into mouse skin if they stay in contact with mouse cells.
research Cholesterol Homeostasis: Links to Hair Follicle Biology and Hair Disorders
Cholesterol balance is important for hair health, and problems with it can lead to hair loss conditions.
research Hair Loss And Its Management In Children
The document concludes that early diagnosis and a comprehensive treatment plan are crucial for managing hair loss in children, with a focus on both medical and psychological support.
research Clinical and Molecular Genetic Studies in Hereditary Hair Loss
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
research Male-Pattern Hair Loss: Comprehensive Identification of the Associated Genes as a Basis for Understanding Pathophysiology
Male-pattern hair loss is largely influenced by genetics, with key genes identified.
research Kennedy's Disease and Partial Androgen Insensitivity Syndrome: Report of 4 Cases and Literature Review
The conclusion is that adult males with muscle weakness and hormonal imbalances should be tested for Kennedy's disease.
research Spinal and Bulbar Muscular Atrophy: Pathogenesis and Clinical Management
Kennedy's disease leads to muscle weakness without a cure, but exercise and managing symptoms may help patients live a normal lifespan.
research Evolving Approaches to Profiling the Microbiome in Skin Disease
New technologies help us better understand how skin microbes affect skin diseases.
research Non-Canonical Dimerization of the Androgen Receptor and Other Nuclear Receptors: Implications for Human Disease
Mutations in certain receptors can cause diseases and offer new treatment options.
research MendelVar: Gene Prioritization at GWAS Loci Using Phenotypic Enrichment of Mendelian Disease Genes
MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.
research Optimization and Characterization of a Focal Dermal Hypoplasia Mouse Model to Test Potential Treatments
Li2CO3 improved skin disease in a mouse model of Focal Dermal Hypoplasia without toxicity.
research Physiological Functions of PP2A: Lessons from Genetically Modified Mice
Mice studies show that Protein Phosphatase 2A is crucial for cell growth, development, and disease prevention.
research Dermatologic Diseases and Problems of Women Throughout the Life Cycle
Women experience various skin issues at different life stages, requiring careful treatment and awareness.
research Unveiling the Roots of Monogenic Genodermatoses: Genotrichoses as a Paradigm
New gene identification techniques have improved the understanding and classification of inherited hair disorders.
research Polymorphic CAG Repeat Numbers in the Androgen Receptor Gene of Female Pattern Hair Loss Patients
Longer CAG repeats in gene linked to more severe hair loss in females.
research Men With Kennedy Disease Have a Reduced Risk of Androgenetic Alopecia
Men with Kennedy disease have less chance of hair loss.
research The Genetics of Human Skin Disease
Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
research Current Genetics in Hair Diseases
Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
research Early Onset and Novel Features in a Spinal and Bulbar Muscular Atrophy Patient with a 68 CAG Repeat
A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
research Tissue Resident and Follicular Treg Cell Differentiation Is Regulated by CRAC Channels
CRAC channels are crucial for the development and function of specialized immune cells, preventing severe inflammation and autoimmune diseases.
research Hereditary Chorea Associated With and Aggravated by Systemic Lupus Erythematosus
A girl with hereditary chorea, likely Huntington's disease, had her condition worsened by lupus.