research Vitamin D Receptor-Mediated Control of Soggy, Wise, and Hairless Gene Expression in Keratinocytes
Vitamin D receptor helps control hair growth genes in skin cells.
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research Pharmacological Activation of Thermo-Transient Receptor Potential Vanilloid 3 Channels Inhibits Hair Growth by Inducing Cell Death of Hair Follicle Outer Root Sheath
Activating TRPV3 channels stops hair growth by killing hair follicle cells.
research Identification of Factors Contributing to Phenotypic Divergence via Quantitative Image Analyses of Autosomal Recessive Woolly Hair/Hypotrichosis with Homozygous c.736T>A LIPH Mutation
Different hair fiber development might explain why hair loss severity varies in patients with a specific genetic mutation, and treatments that thicken hair could help.
research Disease Causing Homozygous Variants in the Human Hairless Gene
New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
research Darier Sign: A Historical Note
Dermatologists diagnose and manage melanoma more effectively than general practitioners.
research Werewolf, There Wolf: Variants in Hairless Associated with Hypotrichia and Roaning in the Lykoi Cat Breed
The unique coat of lykoi cats is likely caused by new variants in the Hairless gene.
research Identification of a Recurrent Nonsense Mutation in HR Gene Responsible for Atrichia with Papular Lesions in Two Kashmiri Families
A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
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 Unusual Presentation of Denys-Drash Syndrome in a Girl with Undisclosed Consumption of Biotin
A girl with Denys-Drash syndrome was misdiagnosed due to biotin affecting her hormone test results.
research Acne
Acne is a common skin condition linked to diet, hormones, and genetics, and early treatment can prevent scarring.
research Clinical Impact of Molecular Diagnostics in Endocrinology
Molecular diagnostics help identify genetic defects causing endocrine diseases, improving diagnosis and treatment options.
research Enhancing Diagnostic Yield of Monogenic Diabetes Through Phenotypic and Molecular Reanalysis of 128 Individuals With Young Onset Hyperglycemia: Highlighting the Significance of Accurate Case Characterization
Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.
research Biomedical Engineering Approaches for the Delivery of JAGGED1 as a Potential Tissue Regenerative Therapy
JAGGED1 could help regenerate tissues for bone loss and heart damage if delivered correctly.
research Host Genetic Susceptibility and Impacts of Dietary Factors on COVID-19
Certain genes and nutrients like vitamin D, zinc, and omega fatty acids affect COVID-19 severity and infection risk.
research Alopecia Areata Susceptibility Variant Identified by MHC Risk Haplotype Sequencing Reproduces Symptomatic Patched Hair Loss in Mice
A gene variant causes patched hair loss in mice, similar to alopecia areata in humans.
research Detection of Five Substitution TPO Mutations in Polycystic Ovary Syndrome and Thyroid Hormones Disturbance Patients
Five different TPO gene mutations were found in PCOS patients with thyroid hormone issues.
research Presence of a Deletion Mutation (c.716delA) in the Ligand Binding Domain of the Vitamin D Receptor in an Indian Patient with Vitamin D-Dependent Rickets Type II
A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
research PCSK9: From Nature's Loss to Patient's Gain
Certain genetic mutations can lower bad cholesterol and reduce heart disease risk, leading to effective cholesterol-lowering drugs.
research Germline Mutation in ATR in Autosomal-Dominant Oropharyngeal Cancer Syndrome
A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
research Transgenic Kallikrein 14 Mice Display Major Hair Shaft Defects Associated with Desmoglein 3 and 4 Degradation, Abnormal Epidermal Differentiation, and IL-36 Signature
Mice with extra human KLK14 had hair and skin problems, including weaker cell bonds and inflammation, linked to Netherton syndrome.
research Tissue Resident Foxp3+ Regulatory T Cells: Sentinels and Saboteurs in Health and Disease
Foxp3+ Regulatory T Cells are important for immunity and tolerance, affect hair growth and wound healing, and their dysfunction can contribute to obesity-related diseases and other health issues.
research Clinical, Biochemical, and Mutational Findings in Biotinidase Deficiency Among Malaysian Population
Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.
research Heterogeneity in the Genetic Alterations and Clinical Presentation of Acrodermatitis Enteropathica: Case Report and Literature Review
AE can have varied symptoms and genetic causes, but zinc therapy helps.
research Novel Compound Heterozygous Cadherin 3 Mutations in Hypotrichosis and Juvenile Macular Dystrophy
Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
research Relationship of a Novel c.429delC Deletion in Hairless Gene HR with Alopecia in Two Families from Southern Punjab, Pakistan
A new mutation in the Hairless gene causes hair loss in two Pakistani families.
research Biotin And Biotinidase Deficiency
Biotin and biotinidase are essential to prevent health issues, and deficiencies require lifelong supplementation.
research RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
research Hairless Suppresses Vitamin D Receptor Transactivation in Human Keratinocytes
Hairless protein can block vitamin D activation in skin cells.
research Long-Term Expansion and Differentiation of Adult Murine Epidermal Stem Cells in 3D Organoid Cultures
A new 3D culture system helps grow and study mouse skin stem cells for a long time.
research Pseudoxanthoma Elasticum: Progress in Research Toward Treatment - Summary of the 2012 PXE International Research Meeting
Significant progress was made in understanding PXE, but effective treatments are still needed.