research Pulmonary Manifestations of Birt-Hogg-Dubé Syndrome
People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.
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390-420 / 441 resultsresearch Development of Heritable Melanoma in Transgenic Mice
The transgene likely activated an oncogene or interrupted a tumor suppressor gene, causing melanoma in mice.
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 Folliculin Interacts With P0071 (Plakophilin-4) and Deficiency Is Associated With Disordered RhoA Signalling, Epithelial Polarization, and Cytokinesis
Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
research Risk of Autoimmune Diseases in Patients with RASopathies: Systematic Study of Humoral and Cellular Immunity
Patients with RASopathies are at risk for autoimmune disorders and should be routinely screened.
research Transgenerational Transmission of Reproductive and Metabolic Dysfunction in Male Progeny of Polycystic Ovary Syndrome
Sons of mothers with polycystic ovary syndrome (PCOS) have a higher risk of obesity and insulin resistance, possibly due to certain genes and factors passed down from their mothers.
research Does Androgenic Alopecia Aggravate the Risk of Prostate Cancer? Evidence from Mendelian Randomization
Male pattern baldness does not cause an increased risk of prostate cancer.
research Author Response: Lhx2 as a Progenitor-Intrinsic Modulator of Sonic Hedgehog Signaling During Early Retinal Neurogenesis
Lhx2 is a crucial regulator of the Sonic Hedgehog signaling in early mouse retinal development.
research FoxN1 in K14 Promoter-Driven Epithelium Is Required for Generation and Maintenance of 3D-Thymus Medulla and Preventing Nude Phenotype in the Skin
FoxN1 gene is crucial for proper thymus structure and normal skin appearance.
research A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome
A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
research Dermatologic Adverse Events Associated With Afatinib: An Oral ErbB Family Blocker
Afatinib often causes skin problems that need proactive management.
research RASopathic Skin Eruptions During Vemurafenib Therapy
Vemurafenib causes skin side effects similar to RASopathies, requiring regular skin checks and UVA protection.
research Haplotypes Spanning Centromeric Regions Reveal Persistence of Large Blocks of Archaic DNA
Ancient DNA blocks are still present in human genomes, possibly due to advantages they provide.
research High-Throughput T Cell Receptor Sequencing Identifies Clonally Expanded CD8+ T Cell Populations in Alopecia Areata
CD8+ T cells are involved in alopecia areata and may cause disease relapse.
research Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities
The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
research Comedonal and Cystic Fibrofolliculomas in Birt-Hogg-Dube Syndrome
Early detection of specific skin lesions can help identify Birt-Hogg-Dube syndrome and prevent serious complications.
research Rapp-Hodgkin Syndrome: A Review of Hair and Hair Color Aspects
Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.
research Activation of Androgen Receptor Sensitizes Breast Carcinomas to NVP-BEZ235's Therapeutic Effect Mediated by PTEN and KLLN Upregulation
Breast cancer treatments work better with AR activation, improving results and reducing side effects.
research Androgenetic Alopecia and Prostate Cancer: Findings from an Australian Case-Control Study
The conclusion is that there might be a link between certain types of baldness and prostate cancer, which could be due to shared hormonal pathways.
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 Immunopathology and Immunotherapy of Inflammatory Skin Diseases
New targeted immunotherapies are improving treatment for inflammatory skin diseases.
research N-(3,5-Dimethylphenyl)-3-Methoxybenzamide (A3B5) Targets TRP-2 and Inhibits Melanogenesis and Melanoma Growth
A3B5 can reduce skin pigmentation and slow melanoma growth.
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 Novel Anti-Aging Gene NM_026333 Contributes to Proton-Induced Aging via NCX1 Pathway
The gene NM_026333 slows down aging by affecting the NCX1 pathway and could be targeted for anti-aging treatments.
research Evolution And Genetic Architecture Of Sex-Limited Polymorphism In Cuckoos
Female cuckoo color differences are linked to their unique genes and help avoid male harassment.
research Appraisal of Paclitaxel Pros and Cons in Cancer Management and Drug Repurposing Prospects
Paclitaxel is an effective cancer drug with side effects and potential new uses beyond cancer.
research Endocrinology
The document concludes that inflammation markers can be used in diabetes, vitamin D3 affects immune pathways, hyperthyroidism changes hormone levels, androgen levels help diagnose Adrenocortical Carcinoma, erectile dysfunction is linked to diabetes, hypogonadism is common in HIV-infected males, and hormones can be biomarkers for various conditions.
research Environmental Endocrine Disrupting Chemicals and Their Epigenetic Influence on Androgenetic Alopecia
Environmental factors and chemicals might affect hormone balance and contribute to common hair loss.
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 Environmental Factors and Puberty Timing: Expert Panel Research Needs
Chemicals and body size might change when puberty starts and progresses, but more research is needed to confirm this.