research Inherited Disorders of the Hair
The document explains the genetic causes and characteristics of inherited hair disorders.
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research Clinical and molecular genetic studies in hereditary hair loss
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
research Aging and Immortality: Quasi-Programmed Senescence and Its Pharmacologic Inhibition
The conclusion is that using drugs to block the TOR pathway might slow aging and prevent age-related diseases.
research Long-Term Survival of Type XVII Collagen Revertant Cells in an Animal Model of Revertant Cell Therapy
Revertant cell therapy shows promise for treating type XVII collagen deficiency, but better cell selection methods are needed.
research Fibrodysplasia Ossificans Progressiva (FOP): A Segmental Progeroid Syndrome
Fibrodysplasia ossificans progressiva is a rare genetic disorder that causes extra bone growth and symptoms of premature aging.
research Keratinocyte Cytokine Networks Associated with Human Melanocytic Nevus Development
Keratinocyte cytokines and genetic variations influence the development of moles and skin pigmentation.
research 2022 Update on Prostate Cancer Epidemiology and Risk Factors—A Systematic Review
Prostate cancer is common, but risk can be reduced by avoiding smoking, unhealthy diet, inactivity, certain medications, and risky jobs.
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.
research Short-term Efficacy of Tofacitinib, a JAK Inhibitor, in IFIH1-related Aicardi-Goutières Syndrome
Tofacitinib helped improve symptoms and hair growth in a patient with Aicardi-Goutières syndrome.
research Birt–Hogg–Dubé syndrome: from gene discovery to molecularly targeted therapies
New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
research Receptor tyrosine kinase Kit action in skin melanocytes: is it exclusively cell autonomous?
KIT's role in skin cells is not entirely independent, as other cells can influence its function.
research Phenotypic heterogeneity in human genetic diseases: ultrasensitivity-mediated threshold effects as a unifying molecular mechanism
Different people show different symptoms for genetic diseases because of how sensitive their bodies are to small changes in important factors.
research Genetic analysis of the role of androgen metabolism in the pathogenesis of prostate cancer
Certain genetic markers can indicate a person's risk of developing prostate cancer.
research Myotonic Dystrophy—A Progeroid Disease?
Myotonic dystrophy may be classified as a segmental progeroid disorder.
research Steroid Sulfatase Deficiency and Androgen Activation Before and After Puberty
In STSD patients, the body compensates for low androgen levels by increasing another enzyme's activity.
research Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex
Mutant keratins cause inflammation in Epidermolysis Bullosa Simplex, suggesting targeting them could help treat the disorder.
research Ichthyosis with confetti: clinics, molecular genetics and management
Revertant cell therapy could be a future treatment for Ichthyosis with confetti.
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 egfl6 expression in the pharyngeal pouch is dispensable for craniofacial development
Egfl6 is not needed for zebrafish face development.
research Comprehensive Genomic Profiling of Cutaneous Adnexal Carcinomas: A Genomic Landscape Study
Different types of skin gland tumors have unique genetic traits, which can guide personalized treatments.
research Conserved γδ T cell selection by BTNL proteins limits progression of human inflammatory bowel disease
BTNL proteins help control inflammatory bowel disease by maintaining specific immune cells.
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 Prostate Cancer Early Detection, Version 2.2015
The guidelines aim to find treatable prostate cancer early while avoiding unnecessary tests and treatments.
research Le mélanome malin bilatéral de l'uvée
Apoptosis in hair follicles spreads through cell death signals, with stem cells slowing the process.
research Aberrant Activation of the Hedgehog Pathway in Cutaneous Melanoma: Therapeutic Potential of Pharmacological Inhibitors
Hedgehog pathway inhibitors could be effective in treating melanoma.
research Pilomatricoma in Syndromic Contexts: A Literature Review and a Report of a Case in Apert Syndrome
Pilomatricomas are often linked to genetic syndromes, especially Apert syndrome, and genetic analysis is crucial for diagnosis.
research Induction of basal cell carcinomas and trichoepitheliomas in mice overexpressing GLI-1
Overexpressing GLI-1 in mice skin can cause tumors like human basal cell carcinomas.
research Induction of basal cell carcinomas and trichoepitheliomas in mice overexpressing GLI-1
Overexpressing GLI-1 in mice skin can cause tumors like human basal cell carcinomas.
research Hox genes in development and beyond
Hox genes are crucial for development and tissue maintenance, affecting structures and functions throughout life.
research Merkel cell carcinoma: updates in tumor biology, emerging therapies, and preclinical models
New therapies and trials are needed for Merkel cell carcinoma, a tough skin cancer.