research Unraveling the Molecular Mechanisms of Hair and Nail Genodermatoses
Genetic discoveries are key for understanding, diagnosing, and treating inherited hair and nail disorders.
Search
for
Sort by
Research
300-330 / 1000+ results 
research Keratin Function and Regulation in Tissue Homeostasis and Pathogenesis
Keratin is crucial for keeping skin cells healthy and its changes can lead to diseases and affect cell behavior.
research Formation of the Cornified Envelope
The cornified envelope is crucial for skin's barrier function and involves key proteins and genetic factors.
research Patched-Associated Tumors: Modifier Genes and Pathogenesis
The document concludes that the development of certain tumors is influenced by genetic background and that a specific gene modification can lead to tumor regression and reduced growth.
research British Society for Pediatric Dermatology Annual Meeting, Sheffield, 18-19 November 2016
The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
research Irradiation-Induced Hair Graying in Mice: An Experimental Model to Evaluate the Effectiveness of Interventions Targeting Oxidative Stress, DNA Damage Prevention, and Cellular Senescence
Using radiation to make mice's hair turn gray helps study and find ways to prevent or reverse hair graying.
research Genetics and Pathophysiology of Congenital Adrenal Hyperplasia
The document concludes that patient outcomes for Congenital Adrenal Hyperplasia are often not ideal because of poor management and a need for better diagnosis and treatment methods.
research A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia
A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.
research Commonly Associated Disorders With Complete Scalp Alopecia in Early Childhood: A Review
Six genetic conditions are often linked to complete scalp hair loss in children.
research RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
research Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.
research Regulation of Feather Follicle Development and Msx2 Gene SNP Degradation in Hungarian White Goose
The Msx2 gene affects feather development in Hungarian white geese and a specific gene variation could indicate feather quality.
research Novel Missense Mutation in the P-Box of Androgen Receptor in a Patient with Androgen Insensitivity Syndrome
A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.
research Association Analysis of Polymorphisms in Six Keratin Genes with Wool Traits in Sheep
Certain gene mutations are linked to wool quality in sheep and could help in breeding for better wool.
research Steroid 5α-Reductase as a Novel Therapeutic Target for Schizophrenia and Other Neuropsychiatric Disorders
S5αR inhibitors might help treat schizophrenia and other mental disorders but need more research.
research Tumor Mapping in Two Large Multigenerational Families With CYLD Mutations
CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.
research Hyperadrenocorticism in Ferrets
Hyperadrenocorticism in ferrets is linked to neutering and indoor housing, and is best treated with surgery and a deslorelin implant.
research A Mutation in the Type II Hair Keratin KRT86 Gene in a Han Family with Monilethrix
A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han family.
research Distinct Tooth Regeneration Systems Deploy a Conserved Battery of Genes
Different fish use the same genes to regrow teeth.
research Structural and Functional Studies of L-PGDS and SMPDL3A Enzymes in Lipid Signaling Family
L-PGDS has specific binding sites for its functions and could help in drug delivery system design.
research Molecular Genetics of Androgen Insensitivity
Mutations in the androgen receptor gene cause different levels of androgen insensitivity, making it hard to create simple tests for the condition.
research Distinct Tooth Regeneration Systems Deploy a Conserved Battery of Genes
Different species use the same genes for tooth regeneration.
research Targeting the Hippo/YAP/TAZ Signalling Pathway: Novel Opportunities for Therapeutic Interventions into Skin Cancers
Blocking YAP/TAZ could be a new way to treat skin cancer.
research Characterization of Type II Rickets Model Rats to Reveal Functions of Vitamin D and Vitamin D Receptor
The research showed that Vitamin D and its receptor are important for healthy bones and normal hair and skin in rats.
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 The Lanceolate Hair Rat Phenotype Results from a Missense Mutation in a Calcium Coordinating Site of the Desmoglein 4 Gene
A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.
research Histopathology of Hypotrichosis with Juvenile Macular Dystrophy
The research found that a specific gene mutation causes fewer hair follicles and disrupted hair growth cycles, leading to thin and short hair in people with Hypotrichosis with Juvenile Macular Dystrophy.
research Immune Deficiency-Related Enteropathy-Lymphocytopenia-Alopecia Syndrome Results from Tetratricopeptide Repeat Domain 7A Deficiency
A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.
research Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations
LIPH mutations in Japan cause varying degrees of hair loss and woolly hair.
research First Use of Thymus Transplantation Therapy for FOXN1 Deficiency (Nude/SCID): A Report of 2 Cases
Thymus transplantation successfully restored immune function in infants with FOXN1 deficiency.