research Roles of Tumor Suppressors in Regulating Tumor-Associated Inflammation
Tumor suppressors help control inflammation in cancer and restoring their function could lead to new treatments.
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research Advances in Genetic and Molecular Understanding of Omenn Syndrome: Implications for the Future
Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
research MendelVar: Gene Prioritization at GWAS Loci Using Phenotypic Enrichment of Mendelian Disease Genes
MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.
research A Cross-Sectional Study of Clinical, Dermoscopic, Histopathological, and Molecular Patterns of Scalp Melanoma in Patients With or Without Androgenetic Alopecia
Scalp melanoma is more common and easier to diagnose early in people with androgenetic alopecia due to sun damage.
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 Biallelic HEPHL1 Variants Impair Ferroxidase Activity and Cause an Abnormal Hair Phenotype
Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
research Female Pseudohermaphroditism Caused by a Novel Homozygous Missense Mutation of the GR Gene
A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.
research An N-Ethyl-N-Nitrosourea Induced Corticotropin-Releasing Hormone Promoter Mutation Provides a Mouse Model for Endogenous Glucocorticoid Excess
Researchers created a mouse model for Cushing's syndrome to study glucocorticoid excess and potential treatments.
research Giant Bilateral Myelolipomas in a Patient with Congenital Adrenal Hyperplasia
A patient with untreated congenital adrenal hyperplasia had large benign tumors in her adrenal glands removed, improving her symptoms.
research CRISPR/Cas9-Based Targeted Genome Editing for Correction of Recessive Dystrophic Epidermolysis Bullosa Using iPS Cells
The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.
research Association of Myotonic Dystrophy with Autoimmune Endocrinopathies and Thyroid Carcinoma
A patient with myotonic dystrophy had several autoimmune disorders and thyroid cancer, suggesting a possible link between these conditions.
research Fibrodysplasia Ossificans Progressiva: A Segmental Progeroid Syndrome
Fibrodysplasia ossificans progressiva is a rare genetic disorder that causes extra bone growth and symptoms of premature aging.
research Effect of a Transcriptionally Inactive or Absent Vitamin D Receptor on Beta-Cell Function and Glucose Homeostasis in Mice
Mice without active or present vitamin D receptors maintain normal blood sugar control and islet gene expression when calcium levels are normal.
research Molecular Genetic Dissection of ILVEN Leads to Successful Targeted Therapy
Targeted therapy with Ustekinumab significantly improved a skin condition called ILVEN, which is caused by mutations in the CARD14 gene.
research Efficient Editing of CSLD2 Orthologue by CRISPR/Cas9 Affects Cell Morphogenesis of Root Hair in Spinach
CRISPR/Cas9 editing in spinach affects root hair growth by altering specific genes.
research The Transcriptional Repressor CDP (Cutl1) Is Essential for Epithelial Cell Differentiation of the Lung and the Hair Follicle
CDP is crucial for lung and hair follicle cell development.
research When Acne, Hirsutism, and Menstrual Irregularities Are More Than PCOS
Non-classic congenital adrenal hyperplasia (NCCAH) can mimic PCOS and requires genetic testing for proper diagnosis and treatment.
research An Essential Role for RXRα in the Development of Th2 Responses
RXRα is crucial for proper immune response and links diet to immune function.
research Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction
A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
research Epigenetic Regulation in Adult Stem Cells and Cancers
Understanding how epigenetic regulation affects stem cells is key to cancer insights and new treatments.
research The Emerging Role of Janus Kinase Inhibitors in the Treatment of Autoimmune and Inflammatory Diseases
Janus kinase inhibitors are promising drugs for treating autoimmune and inflammatory diseases.
research Hair Follicle Associated Pluripotent Stem Cells Stimulate Hair Growth in Transplanted Mice
Stem cells from whiskers can be transplanted to stimulate hair growth.
research Targeted Therapy in Melanoma
New treatments for advanced skin cancer are improving patient outcomes, but drug resistance and finding the right treatment combinations are still big challenges.
research Regulatory T Cells: The Many Faces of Foxp3
Foxp3 is crucial for regulatory T cell function, and targeting these cells may help treat immune disorders.
research Abstracts From The 55th European Society Of Human Genetics Conference: E-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
research PLCD1 and Pilar Cysts
The research linked PLCD1 gene variants to the development of trichilemmal cysts.
research A New Heterozygous Frameshift Variant in Keratin 10 Resulting in Ichthyosis Hystrix in a Father and Daughter
A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
research The E211 G>A Androgen Receptor Polymorphism Is Associated With a Decreased Risk of Metastatic Prostate Cancer and Androgenetic Alopecia
E211 G>A gene linked to lower risk of severe prostate cancer and hair loss.
research A Systematic Review of Anti-Aging Effects of 23 Traditional Chinese Medicines
Some traditional Chinese medicines may have anti-aging benefits and could help with hair growth, but more research is needed.
research Recent Updates of the CRISPR/Cas9 Genome Editing System: Novel Approaches to Regulate Its Spatiotemporal Control by Genetic and Physicochemical Strategies
CRISPR/Cas9 has improved precision and control but still faces clinical challenges.