research Identification and Characterization of a Novel Pathogenic Mutation in the Human Lipodystrophy Gene AGPAT2
A new mutation in the AGPAT2 gene causes severe fat tissue loss and related health issues by reducing the protein's levels.
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research Formation of the Cornified Envelope
The cornified envelope is crucial for skin's barrier function and involves key proteins and genetic factors.
research Advances in the Genetic Understanding of Hypohidrotic Ectodermal Dysplasia
Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
research The Role of Histone Demethylases in Disease
Histone demethylases play a key role in the development of many diseases and may be targets for treatment.
research Case Report: A Novel Splice-Site Mutation of MTX2 Gene Caused Mandibuloacral Dysplasia Progeroid Syndrome: The First Report from China and Literature Review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
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 Acne-Associated Syndromes
Acne is linked to inflammation and insulin resistance, and is associated with various syndromes that require different treatments.
research Australasian Society for Dermatology Research Meeting, May 2006
The meeting highlighted the genetic basis of female pattern hair loss and various skin health insights.
research Syndromes of Severe Insulin Resistance
The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.
research Kinase Inhibition with BAY 43-9006 in Renal Cell Carcinoma
BAY 43-9006 helps control kidney cancer growth but doesn't significantly increase overall survival.
research Biotin And Biotinidase Deficiency
Biotin and biotinidase are essential to prevent health issues, and deficiencies require lifelong supplementation.
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 Dermatologic Manifestations of Mitochondrial Dysfunction: A Review of the Literature
Mitochondrial dysfunction is linked to various skin conditions and could be a target for treatments.
research Evolution of Hard Proteins in the Sauropsid Integument in Relation to the Cornification of Skin Derivatives in Amniotes
Hard skin features like scales, feathers, and hair evolved through specific protein changes in different animal groups.
research Use of Induced Pluripotent Stem Cells in Dermatological Research
iPSCs can help treat genetic skin disorders by creating healthy skin cells from a small biopsy.
research Tradescantia-Based Test Systems for Evaluating Toxic Potential of Harmful Algal Blooms
Tradescantia plants can effectively test for the toxicity of harmful algae.
research Premature Aging Syndromes: From Patients to Mechanism
Studying premature aging syndromes helps understand human aging and suggests potential treatments.
research Hutchinson-Gilford Progeria Syndrome: Report of 2 Cases and a Novel LMNA Mutation in China
A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.
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 Role of FGFR2-Signaling in the Pathogenesis of Acne
Increased FGFR2b signaling, influenced by androgens, plays a role in causing acne.
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 Genetic Disorders and Defects in Vitamin D Action
Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
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 Epidermolysis Bullosa Simplex in Children with De Novo Pathogenic Variants Disturbing KRT14
Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
research The Expanding Significance of Keratin Intermediate Filaments in Normal and Diseased Epithelia
Keratin proteins are increasingly recognized as important for cell health and are linked to many diseases.
research From Structural Resilience to Cell Specification: Intermediate Filaments as Regulators of Cell Fate
Intermediate filaments are crucial for cell differentiation and stem cell function.
research The Interplay of Oxidative Stress and Immune Dysfunction in Hashimoto’s Thyroiditis and Polycystic Ovary Syndrome: A Comprehensive Review
Oxidative stress and immune dysfunction are linked to both Hashimoto's thyroiditis and polycystic ovary syndrome, with diet and specific treatments important for managing these conditions.
research Acne Syndromes and Mosaicism
Understanding how acne develops in different diseases could lead to new treatments.
research Relaxers Damage Hair: Evidence from Amino Acid Analysis
Hair relaxers are linked to reduced cystine levels and potential hair damage.
research Treatment of Monilethrix with Oral Minoxidil
Oral minoxidil shows promise in treating monilethrix-related hair loss.