research Advances in the Management of Cutaneous Toxicities of Targeted Therapies
Targeted cancer therapies often cause skin problems that need careful management to improve patient quality of life and treatment success.
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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 Rhombencephalosynapsis Presenting Antenatally with Ventriculomegaly/Hydrocephalus in a Likely Case of Gomez–López-Hernández Syndrome
A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.
research Satoyoshi Syndrome: A Rare Multisystemic Disorder Requiring Systemic and Symptomatic Treatment
A patient with Satoyoshi syndrome improved with a treatment combining several medications, including carbamazepine and methotrexate.
research The Probable Destructive Mechanisms Behind COVID-19 on Male Reproductive System and Fertility
COVID-19 may harm male fertility and damage the reproductive system.
research The Role of Leptin in Selected Skin Diseases
Leptin affects skin and hair health and may worsen some skin conditions, but more research is needed to understand its full impact.
research Roles of Wnt7a in Embryo Development, Tissue Homeostasis, and Human Diseases
Wnt7a protein is crucial for development and tissue maintenance and plays varying roles in diseases and potential treatments.
research Upregulation of Interfollicular Epidermal and Hair Infundibulum β-Catenin Expression in Gsdma3 Mutant Mice
Mice with a Gsdma3 gene mutation have thicker skin and longer hair follicle openings due to increased β-catenin levels.
research Tp63-Expressing Adult Epithelial Stem Cells Cross Lineage Boundaries Revealing Latent Hairy Skin Competence
Adult stem cells with Tp63 can form hair and skin cells when placed in new skin, showing they have hidden abilities for skin repair.
research Secretory Phospholipase A2-IIA Overexpressing Mice Exhibit Cyclic Alopecia Mediated Through Aberrant Hair Shaft Differentiation and Impaired Wound Healing Response
Mice with too much sPLA₂-IIA have hair loss and poor wound healing due to abnormal hair growth and stem cell depletion.
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 Diseases of Periocular Hair
The document concludes that periocular hair disorders have various causes and treatments, and proper evaluation by specialists is important for management and prognosis.
research Hereditary Vitamin D Rickets: A Case Series in a Family
Three siblings with a genetic form of rickets showed different symptoms of the disease.
research Safety of Whole-Body Abrogation of the TRF1 Shelterin Protein in Wild-Type and Cancer-Prone Mouse Models
Deleting the Trf1 protein in mice is safe and may help prevent cancer without major side effects.
research Longer TA Repeat but Not V89L Polymorphisms in the SRD5A2 Gene May Confer Acne Risk in the Chinese Population
Longer TA repeats in the SRD5A2 gene may increase acne risk in Chinese people.
research De Novo Assembly and Annotation of Asiatic Lion (Panthera Leo Persica) Genome
The Asiatic lion has very low genetic diversity and unique genetic traits, highlighting the need for its conservation.
research Clinical and Laboratory Characteristics of Individuals Aged 17 Years or Younger With Homeostatic Iron Regulator (HFE) p.C282Y Homozygosity, a Common Hemochromatosis Genotype
Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.
research Integrated miRNA and mRNA Analysis Provides New Insight into Mechanism of Dermal Papilla in Androgenetic Alopecia
Increased cell death and reduced cell growth in hair follicles contribute to baldness.
research Polyglandular Syndrome Type 1 Complicated with Dilated Cardiomyopathy: A Case Report
A 27-year-old with APS-1 showed improvement in symptoms after treatment.
research The Glucocorticoid Resistance Syndrome: Two Cases of a Novel Pathogenic Variant in the Glucocorticoid Receptor Gene
A new gene variant causes glucocorticoid resistance in a mother and son.
research Dysregulation of the Immune System in a Natural History Study of 1299 Individuals with Down Syndrome
People with Down syndrome have higher rates of certain immune-related conditions and need special medical attention.
research The Relation of the SHBG Gene Polymorphism (rs1799941) with PCOS in a Group of Iraqi Women
Certain changes in the SHBG gene may increase the risk of PCOS in Iraqi women.
research Alymphoid Cystic Thymic Dysgenesis - FOXN1 Gene Mutation: A Rare Case Report of Two Siblings
Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
research Case Report: Disorder of Sex Development 46, XY with Proximal Hypospadias in a 10-Year-Old Twin Boy
A 10-year-old boy with abnormal genital development had surgery and tests to find the cause and plan treatment.
research Index
The document is a detailed medical reference on skin and genetic disorders.
research Two Females With Hair Loss
A mother and daughter have a rare genetic hair loss disorder with no effective treatment.
research Perspectives of Alopecia Behind the Regulation of Foxn1 Gene Exposes the Human Nude Phenotype
The gene Foxn1 is important for hair growth, and understanding it may lead to new alopecia treatments.
research Dermatologic Side Effects of Systemic Targeted Anticancer Therapy
Cancer treatments targeting specific cells often cause skin, hair, and nail problems, affecting patients' lives and requiring careful management.
research Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome with Concomitant Lymphopenia: A Novel TP63 Mutation
A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.