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.
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research Targeting Superficial or Nodular Basal Cell Carcinoma with Topically Formulated Small Molecule Inhibitor of Smoothened
The topical inhibitor CUR61414 was not effective in treating basal cell carcinoma in human trials.
research Type I Keratin 17 Protein Is Phosphorylated on Serine 44 by p90 Ribosomal Protein S6 Kinase 1 in a Growth- and Stress-Dependent Fashion
Keratin 17 is modified by RSK1 in response to growth and stress, affecting skin growth and stress response.
research Mechanism of TAp73 Inhibition by ΔNp63 and Structural Basis of p63/p73 Hetero-Tetramerization
ΔNp63α stops TAp73β from working in skin cancer by blocking its access to specific genes, not by directly interacting with it.
research Management of Congenital Adrenal Hyperplasia During Pregnancy
With careful management, people with congenital adrenal hyperplasia can have successful pregnancies and become parents.
research Monilethrix Treated with Minoxidil
Minoxidil 2% effectively treats Monilethrix without side effects.
research Integrative Analysis of Rare Copy Number Variants and Gene Expression Data in Alopecia Areata Implicates an Etiological Role for Autophagy
The research suggests that autophagy-related genes might play a role in causing alopecia areata.
research Characterization of X-Linked Hypohidrotic Ectodermal Dysplasia Hair and Sweat Gland Phenotypes Using Phototrichogram Analysis and Live Confocal Imaging
People with X-linked hypohidrotic ectodermal dysplasia have no sweat ducts and less, thinner hair.
research TRPS1 Mutation Associated with Trichorhinophalangeal Syndrome Type 1 with 15 Supernumerary Teeth, Hypoplastic Mandibular Condyles with Slender Condylar Necks and Unique Hair Morphology
A person with a specific gene mutation had extra teeth, unique jaw and hair features not seen before in this condition.
research Keratin 17-Related Recessive Atypical Pachyonychia Congenita with Variable Hair and Tooth Anomalies
A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
research Unusual Presentation of Denys-Drash Syndrome in a Girl with Undisclosed Consumption of Biotin
A girl with Denys-Drash syndrome was misdiagnosed due to biotin affecting her hormone test results.
research Data from Targeting Superficial or Nodular Basal Cell Carcinoma with Topically Formulated Small Molecule Inhibitor of Smoothened
The treatment was ineffective in humans.
research Risk of Autoimmune Diseases in Patients with RASopathies: Systematic Study of Humoral and Cellular Immunity
Patients with RASopathies have a higher risk of autoimmune disorders and should be routinely screened.
research Disorders of Keratinization
The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.
research Molecular Principles of Hair Follicle Induction and Morphogenesis
Hair follicle development is controlled by interactions between skin tissues and specific molecular signals.
research Large-Scale Genome-Wide Meta-Analysis of Polycystic Ovary Syndrome Suggests Shared Genetic Architecture for Different Diagnosis Criteria
The research found that PCOS has common genetic factors regardless of how it is diagnosed and is linked to metabolic and reproductive issues.
research Cell Death in the Skin: Mechanisms and Implications
Understanding how cells die in the skin is important for treating skin diseases and preventing hair loss.
research Non-Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency Revisited: An Update with a Special Focus on Adolescent and Adult Women
The update highlights that non-classic congenital adrenal hyperplasia is common in women with excess male hormones, requires specific hormone tests for diagnosis, and has various treatment options depending on age and symptoms.
research FGF Family: From Drug Development to Clinical Application
FGF signaling is a promising target for developing treatments for wounds, metabolic diseases, and cancer.
research Whole-Genome Sequencing of Eight Goat Populations for the Detection of Selection Signatures Underlying Production and Adaptive Traits
Researchers identified genes linked to coat color, body size, cashmere production, and high altitude adaptation in goats.
research The Roles of Wnt/β-Catenin Pathway in Tissue Development and Regenerative Medicine
The Wnt/β-catenin pathway is important for tissue development and has potential in regenerative medicine, but requires more research for therapeutic use.
research Keratin K15 as a Biomarker of Epidermal Stem Cells
Keratin 15 is not a reliable sole marker for identifying epidermal stem cells because it's found in various cell types.
research Foxp3 Post-Translational Modifications and Treg Suppressive Activity
Changes to the Foxp3 protein affect how well regulatory T cells can control the immune system, which could help treat immune diseases and cancer.
research Safety of Testosterone Treatment in Postmenopausal Women
Testosterone therapy seems safe for postmenopausal women for a few years, but more research is needed for long-term effects.
research Inherited Ichthyosis: Syndromic Forms
Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
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 De Novo Single-Nucleotide and Copy Number Variation in Discordant Monozygotic Twins Reveals Disease-Related Genes
The research found genetic differences in identical twins that could explain why one twin has a disease while the other does not.
research What Does Acne Genetics Teach Us About Disease Pathogenesis?
Acne is significantly influenced by genetics, and understanding its genetic basis could lead to better, targeted treatments.
research Diagnostic Approach to Low-Renin Hypertension
Recent genetic insights show that low-renin hypertension includes a range from essential hypertension to secondary or familial forms, affecting diagnosis and treatment.
research Ancient Genomes Reveal the Evolutionary History and Origin of Cashmere-Producing Goats in China
Ancient Chinese goats evolved cashmere-producing traits due to selective breeding, particularly in genes affecting hair growth.