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.
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research Developing Stratified Epithelia: Lessons from the Epidermis and Thymus
The skin and thymus develop similarly to protect and support immunity.
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 The Diagnosis of Nonclassic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency Based on Serum Basal or Post-ACTH Stimulation 17-Hydroxyprogesterone Can Lead to False-Positive Diagnosis
Using 17-hydroxyprogesterone levels to diagnose nonclassic congenital adrenal hyperplasia can result in many incorrect diagnoses.
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 Identification of a Novel PNPLA1 Mutation in a Spanish Family with Autosomal Recessive Congenital Ichthyosis
A new gene mutation linked to a skin condition was found in a Spanish family.
research Unraveling the Molecular Mechanisms of Hair and Nail Genodermatoses
Genetic discoveries are key for understanding, diagnosing, and treating inherited hair and nail disorders.
research Molecular Genetics of Keratinization Disorders: What's New About Ichthyosis
Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
research Skin-Specific Regulation of SREBP Processing and Lipid Biosynthesis by Glycerol Kinase 5
A gene called Gk5 controls lipid production in the skin and affects hair growth.
research FOXN1 Italian Founder Mutation in Indian Family: Implications in Prenatal Diagnosis
A rare genetic mutation found in an Indian family can be detected through prenatal screening.
research Dermatopathology and Molecular Genetics
Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
research Single-Cell Transcriptomics Reveals the Molecular Anatomy of Sheep Hair Follicle Heterogeneity and Wool Curvature
The research identified genes that explain why some sheep have curly wool and others have straight wool.
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 Unraveling the Link Between Ectodermal Disorders and Primary Immunodeficiencies
Skin abnormalities can indicate immunodeficiency due to shared origins with the immune system.
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.
research Testicular Steroidogenesis: Production and Regulation of Testosterone and Dihydrotestosterone
Genetic defects in testosterone production can cause hormonal and developmental disorders, and more research is needed to understand androgen regulation and develop safer treatments.
research Atrichia with Papular Lesions in a Taiwanese Patient Without Hairless (HR) Gene Mutation
A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.
research Formation of the Cornified Envelope
The cornified envelope is crucial for skin's barrier function and involves key proteins and genetic factors.
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 Inherited Disorders of the Hair
The document explains the genetic causes and characteristics of inherited hair disorders.
research Rapid Characterization of the Functional and Pharmacological Consequences of Cantú Syndrome KATP Channel Mutations in Intact Cells
Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.
research Abstracts
Get head MRI for babies with achondroplasia early, use free immunoglobulin light chains to detect certain neurodevelopmental disorders, and video calls work for speech therapy in patients with facial anomalies.
research Identification of a Novel Homozygous LAMB3 Mutation in a Chinese Male With Junctional Epidermolysis Bullosa and Severe Urethra Stenosis: A Case Report
A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.
research Patched-Associated Tumors: Modifier Genes and Pathogenesis
The document concludes that the development of certain tumors is influenced by genetic background and that a specific gene modification can lead to tumor regression and reduced growth.
research Genome Scan for Signatures of Adaptive Evolution in Wild African Goat (Capra Nubiana)
Wild African goats have genetic adaptations for surviving harsh desert conditions.
research Hair Disorders
Understanding normal hair growth and loss in children is key to diagnosing and treating hair disorders.
research British Society for Pediatric Dermatology Annual Meeting, Sheffield, 18-19 November 2016
The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
research Abstracts from the 2009 Annual Meeting of the Society for Pediatric Dermatology
UVB is good for a skin condition in Asian kids, a lotion works for head lice, a drug helps with a skin blistering disorder, a foam reduces itchiness in skin inflammation, birthmarks can be more widespread, and criteria for a neurocutaneous disorder were agreed upon.
research Main Plenary Sessions: Summaries of Papers
UK medical students lack dermatology education, liver biopsy patients with risk factors show more fibrosis, and certain fungi resist drugs due to melanin; genetics may influence female hair loss.
research Syndromes of Severe Insulin Resistance
The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.