research Sjogren-Larsson Syndrome: Case Study of a 9-Year-Old Boy
A boy with Sjogren-Larsson syndrome has skin and muscle symptoms due to a specific enzyme deficiency.
Search
for
Sort by
Research
30 / 1000+ results research Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
research The Acyl-CoA Binding Protein Is Required For Normal Epidermal Barrier Function In Mice
ACBP is crucial for healthy skin in mice.
research Ichthyosis
The document concludes that accurate diagnosis of ichthyosis is crucial for treatment and genetic advice, and ongoing research is needed for better therapies.
research Genetics
Certain gene mutations can weaken the skin barrier and, when combined with environmental factors, lead to eczema and severe itching.
research Skin, Genetic Defects, and Aging
Genetic defects and UV radiation cause skin damage and aging.
research Inherited Ichthyoses: Generalized Mendelian Disorders of Cornification
Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
research Inherited Ichthyosis: Syndromic Forms
Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
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 A Multicenter Evaluation of 10% Sulfacetamide Sodium in a 10% Urea Vehicle Scalp Treatment Lotion and a 10% Urea Deep Cleansing Antibacterial Shampoo for the Treatment of Seborrheic Dermatitis of the Scalp
The lotion and shampoo effectively treated scalp seborrheic dermatitis.
research Structure and Development of the Skin and Cutaneous Appendages
Understanding skin structure and development helps diagnose and treat skin disorders.
research New Developments in the Molecular Treatment of Ichthyosis: Review of the Literature
New treatments for ichthyosis, like protein replacement and gene therapy, show promise and may become standard care.
research Proteomics as a Tool to Improve Novel Insights into Skin Diseases: What We Know and Where We Should Be Going
Proteomics combined with other technologies can lead to a better understanding of skin diseases.
research Epidermal Retinol Dehydrogenases Cyclically Regulate Stem Cell Markers and Clock Genes and Influence Hair Composition
Enzymes involved in Vitamin A metabolism affect hair growth and type in mice.
research Retinoic Acid Exerts Sexually Dimorphic Effects on Muscle Energy Metabolism and Function
Retinoic acid affects male and female muscle energy use and function differently.
research Chapter 14: Principles of Drug Metabolism
Drug metabolism affects how long a drug works, its interactions, activation, and toxicity, and is influenced by genetics, diet, illness, and other drugs.
research Vitamins as Key Modulators in Hair Growth Dynamics
Vitamins A, B7, C, D, and E are essential for healthy hair growth and preventing damage.
research Comparative Proteomics Indicates That Biosynthesis of Pectic Precursors Is Important for Cotton Fiber and Arabidopsis Root Hair Elongation
Pectin biosynthesis is essential for the growth of cotton fibers and Arabidopsis root hairs.
research Xenobiotic-Metabolizing Enzymes in the Skin of Rat, Mouse, Pig, Guinea Pig, Man, and in Human Skin Models
Different species and human skin models vary in their skin enzyme activities, with pig skin and some models closely matching human skin, useful for safety assessments and understanding the skin's protective roles.
research Fetal Programming of Polycystic Ovary Syndrome by Androgen Excess: Evidence from Experimental, Clinical, and Genetic Association Studies
Exposure to too much androgen before birth might cause polycystic ovary syndrome later in life.
research Fetal Alcohol Syndrome: Current Status of Pathogenesis
The document concludes that the exact way alcohol causes harm to fetal development is unknown, but it significantly affects nutrient transport to the fetus and a safe level of alcohol during pregnancy is not determined.
research Transdermal Permeation of Drugs in Various Animal Species
Pig skin is a good substitute for human skin to measure drug absorption, but differences in skin structure and enzymes across species must be considered.
research The Paradox of p53: What, How, and Why?
The p53 protein has complex, sometimes contradictory functions, including tumor suppression and promoting cell survival.
research Endogenous Retinoids in the Hair Follicle and Sebaceous Gland
Maintaining the right amount of retinoic acid is crucial for healthy hair and skin.
research Alleviation of Multidrug Resistance by Flavonoid and Non-Flavonoid Compounds in Breast, Lung, Colorectal, and Prostate Cancer
Some natural compounds may help overcome drug resistance in certain cancers, but more research is needed.
research Drug Repurposing: Hypothesis, Molecular Aspects, and Therapeutic Applications
Drug repurposing is a cost-effective way to find new uses for existing drugs, speeding up treatment development.
research Stem Cells and the Skin
Stem cells can rejuvenate skin, restore hair, and aid in wound healing.
research Sterol Intermediates of Cholesterol Biosynthesis Inhibit Hair Growth and Trigger an Innate Immune Response in Cicatricial Alopecia
Cholesterol-related compounds can stop hair growth and cause inflammation in a type of scarring hair loss.
research Compilation of a Comprehensive Gene Panel for Systematic Assessment of Genes That Govern an Individual’s Drug Responses
Researchers found that most genes affecting drug responses are not fully covered by commercial SNP chips, suggesting the need for more comprehensive tools to optimize drug selection based on genetics.
research Global Landscapes of Human Phenotypic Variation in Inherited Traits
Different human traits like skin color and hair type vary between populations due to genetic adaptations to the environment.