research Genetics
Certain gene mutations can weaken the skin barrier and, when combined with environmental factors, lead to eczema and severe itching.
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research Group-ICA Model Order Highlights Patterns of Functional Brain Connectivity
Choosing the right model order in brain connectivity analysis can affect the detection of differences between healthy individuals and those with seasonal affective disorder.
research Acne-Associated Syndromes: Models for Better Understanding of Acne Pathogenesis
The document concludes that certain genetic mutations and dietary factors are involved in acne development, and treatments like isotretinoin and diet changes can help manage it.
research Role of Cholesterol Sulfate in Epidermal Structure and Function: Lessons from X-Linked Ichthyosis
Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.
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 Clinical and Genetic Findings in a Chinese Family with VDR-Associated Hereditary Vitamin D-Resistant Rickets
A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
research Genome-Wide Association Study and Transcriptome Differential Expression Analysis of the Feather Rate in Shouguang Chickens
Researchers found genes linked to feather growth speed in Shouguang chickens, highlighting two genes that might explain differences in feathering.
research Molecular Genetic Characteristics of the Hoxc13 Gene and Association Analysis of Wool Traits
Hoxc13 gene affects wool length in Gansu alpine fine-wool sheep.
research Micronutrient Deficiencies and Digital Phototrichogram Analysis in Telogen Effluvium: A Retrospective Study in a Tertiary Medical Center
Low hemoglobin levels are significantly correlated with hair loss in women with Telogen Effluvium.
research Primary Generalized Glucocorticoid Resistance or Chrousos Syndrome: Allostasis Through a Mutated Glucocorticoid Receptor
Chrousos Syndrome is caused by mutations that make the body less sensitive to glucocorticoids, leading to various symptoms and requiring high-dose treatment.
research Roles of Jumonji and Jumonji Family Genes in Chromatin Regulation and Development
Jumonji genes are important for development and their mutations can cause abnormalities, especially in the heart and brain.
research Localized In Vivo Genotypic and Phenotypic Correction of the Albino Mutation in Skin by RNA-DNA Oligonucleotide
research Inherited Ichthyoses: Generalized Mendelian Disorders of Cornification
Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
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 Comparative Study of Male and Female Human Hair: A Microscopic Analysis
Male and female human hairs have different microscopic structures that can help in forensic analysis.
research Detection of the Nuclear Translocation of Androgen Receptor Using Quantitative and Automatic Cell Imaging Analysis
A new method helps detect androgen receptor movement in cells, aiding research on hair loss treatments.
research Hutchinson-Gilford Syndrome: History, Causes, Phenotype and Research Advances
Hutchinson-Gilford Progeria Syndrome causes rapid aging from a genetic mutation, with no cure but ongoing research into potential treatments.
research Construction of the Coexpression Network Involved in the Pathogenesis of Thyroid Eye Disease via Bioinformatics Analysis
Key genes and pathways involved in thyroid eye disease were identified, aiding potential treatment and diagnosis.
research Frontotemporal Dementia with Parkinsonism Presenting as Posterior Cortical Atrophy
A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
research Region-Specific Reversal of Epidermal Planar Polarity in the Rosette Fancy Mouse
Hair follicles in the back of the rosette fancy mouse have reversed orientations due to a gene mutation.
research Risk Factors, Prevalence, and Diagnosis of Hutchinson-Gilford Syndrome with Special Reference to Case Reports
Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
research Advances and Challenges in Plant Sterol Research: Fundamentals, Analysis, Applications and Production
Plant sterols have health benefits like lowering cholesterol, but more research is needed to understand their effects and improve their extraction and sustainability.
research Development of Woolly Hair and Hairlessness in a CRISPR-Engineered Mutant Mouse Model with KRT71 Mutations
Researchers made a mouse model with curly hair and hair loss by editing a gene.
research Editors' Picks
ANp63 is crucial for skin integrity, new filaggrin gene mutations link to eczema, hair can regrow from non-stem cells, sunburns are increasing, and glucocorticoids help treat skin allergies by affecting immune cells.
research Identification of Hepatic Molecular Mechanisms of Action of Alpha-Tocopherol Using Global Gene Expression Profile Analysis in Rats
Vitamin E affects liver metabolism, enhancing stress resistance, reducing blood clotting, and altering hormone processing.
research Human Hair Shaft Proteomic Profiling: Individual Differences, Site Specificity, And Cuticle Analysis
Human hair proteins vary by individual, body site, and ethnicity, useful for forensics.
research Dermatoscopy of Hair Shaft Disorders
Dermatoscopy is a useful tool for diagnosing hair disorders and can help choose samples for more detailed analysis.
research Recently Identified Forms of Epidermolysis Bullosa
Three new types of a skin blistering disease were found, caused by specific gene mutations.
research Structure of Human Steroid 5α-Reductase 2 with the Anti-Androgen Drug Finasteride
Finasteride irreversibly affects human steroid 5α-reductase 2, providing insight into its catalytic mechanism and disease-related mutations.
research The ITGB6 Gene: Its Role in Experimental and Clinical Biology
The ITGB6 gene is important for tissue repair and hair growth, and mutations can lead to enamel defects and other health issues.