research Structural and Biochemical Changes Underlying a Keratoderma-Like Phenotype in Mice Lacking Suprabasal AP1 Transcription Factor Function
Inhibiting AP1 in mice skin causes structural changes and weakens the skin barrier.
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research Gene Network Analysis Reveals Candidate Genes Related to Hair Follicle Development in Sheep
Key genes crucial for sheep hair follicle development were identified, aiding fine wool breeding and human hair loss research.
research Evolving Approaches to Profiling the Microbiome in Skin Disease
New technologies help us better understand how skin microbes affect skin diseases.
research Unraveling the Link Between Ectodermal Disorders and Primary Immunodeficiencies
Skin abnormalities can indicate immunodeficiency due to shared origins with the immune system.
research Cutaneous Manifestations of Mucopolysaccharidoses
People with Mucopolysaccharidoses often have skin problems like thick skin and extra hair, and recognizing these can help diagnose and treat the condition early.
research Alopecia: Association with Resistance to Thyroid Hormones
A specific thyroid hormone resistance mutation may be linked to different types of hair loss.
research Transcriptome Profiling and Differential Gene Expression in Canine Microdissected Anagen and Telogen Hair Follicles and Interfollicular Epidermis
Different genes are active in dogs' hair growth and skin, similar to humans, which helps understand dog skin and hair diseases and can relate to human conditions.
research Hair Graying and Loss Induced by Imatinib Mesylate
A woman's hair turned gray and fell out after starting a cancer drug called imatinib mesylate.
research DNA Dioxygenases Tet2/3 Regulate Gene Promoter Accessibility and Chromatin Topology in Lineage-Specific Loci to Control Epithelial Differentiation
The enzymes Tet2 and Tet3 are important for skin cell development and hair growth.
research Updated Strategies for the Management, Pathogenesis, and Molecular Genetics of Different Forms of Ichthyosis Syndromes with Prominent Hair Abnormalities
Early diagnosis and tailored treatments are crucial for managing ichthyosis syndromes with hair abnormalities.
research Hypoparathyroidism as the Single Major Component for Decades of Autoimmune Polyglandular Syndrome Type 1
A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.
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 Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
research Two Incidental Sibling Diagnoses of Netherton Syndrome in Separate Visits: A Case Report
Doctors should consider Netherton syndrome in patients with chronic skin and hair issues to avoid misdiagnosis.
research Role of the ABCA4 Gene Expression in the Clearance of Toxic Vitamin A Derivatives in Human Hair Follicle Stem Cells and Keratinocytes
The ABCA4 gene protects hair follicle stem cells from toxic vitamin A byproducts.
research The Role of Astrotactin2 in Regulating Mammalian Skin Polarity
Astrotactin2 affects hair follicle orientation and skin cell polarity.
research Alopecia Areata: A Review of Disease Pathogenesis
Alopecia areata is likely an autoimmune disease with unclear triggers, involving various immune cells and molecules, and currently has no cure.
research Congenital Adrenal Hyperplasia: Current Insights in Pathophysiology, Diagnostics, and Management
Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
research Protoporphyrin IX: The Good, the Bad, and the Ugly
Protoporphyrin IX is useful in cancer treatment but can cause health problems if not properly regulated.
research Epithelial Integrity Is Maintained by a Matriptase-Dependent Proteolytic Pathway
Matriptase is crucial for keeping epithelial tissues healthy and functioning properly.
research Beyond Expectations: The Role of Keratin Intermediate Filament Proteins in Epidermal Integrity
Keratin proteins are crucial for healthy skin, but mutations can cause skin disorders with no effective treatments yet.
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 Mouse Models for the Study of Human Hair Loss
Mice are useful for researching human hair loss and testing treatments, despite some differences between species.
research Rare and Common Genetic Determinants of Metabolic Individuality and Their Effects on Human Health
Genetic variations greatly affect individual metabolism and can impact health and disease risk.
research Phenotypic Variability Associated with WNT10A Nonsense Mutations
WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.
research Keratin and Skin Disorders
Changes in keratin affect skin health and can lead to skin disorders like blistering diseases and psoriasis.
research The Genetic Architecture of Alopecia Areata
Genetic discoveries are leading to new treatments for alopecia areata.
research Alopecia Areata Susceptibility Variant in MHC Region Impacts Expressions of Genes Contributing to Hair Keratinization and Is Involved in Hair Loss
A gene variant increases the risk of a type of hair loss by affecting hair protein production.
research Prognosis and Management of Congenital Hair Shaft Disorders Without Fragility—Part II
Some congenital hair disorders improve with age and can be managed with treatments like minoxidil, retinoids, supplements, and gentle hair care, but there's no cure.
research Biotinidase Deficiency Characterized by Skin and Hair Findings
Biotin supplements improved skin and hair problems in a girl with biotinidase deficiency.