research Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
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570-600 / 1000+ resultsresearch Immunofluorescent Findings and Clinical Overlap in Two Cases of Follicular Lichen Planus
GLPLS and LPP are variants of lichen planus.
research Autoimmune Polyendocrine Syndrome Type 1: An Italian Survey on 158 Patients
APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
research Ectodysplasin Research: Where to Next?
Future research on ectodysplasin should explore its role in diseases, stem cells, and evolution, and continue developing treatments for genetic disorders like hypohidrotic ectodermal dysplasia.
research Diagnostic Approach to Low-Renin Hypertension
Recent genetic insights show that low-renin hypertension includes a range from essential hypertension to secondary or familial forms, affecting diagnosis and treatment.
research The VEGF +405 G>C 5' Untranslated Region Polymorphism and Risk of PCOS: A Study in South Indian Women
The VEGF +405G allele may increase the risk of PCOS in South Indian women.
research Whole Genome Scan and Selection Signatures for Climate Adaptation in Yanbian Cattle
The CORT, FGF5, and CD36 genes are crucial for the cold weather adaptation of Yanbian cattle.
research Alopecia Areata: Pathogenesis, Genetic Factors, and Treatments Using Mouse Models
The document concludes that ongoing research using animal models is crucial for better understanding and treating Alopecia Areata.
research A Novel PLEC Nonsense Homozygous Mutation (c.7159G > T; p.Glu2387*) Causes Epidermolysis Bullosa Simplex with Muscular Dystrophy and Diffuse Alopecia: A Case Report
A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
research The G60S Connexin43 Mutant Regulates Hair Growth and Hair Fiber Morphology in a Mouse Model of Human Oculodentodigital Dysplasia
The G60S Connexin43 mutation causes hair growth issues and poor hair quality in mice, similar to human ODDD patients.
research A Pharmacogenetic Survey of Androgen Receptor (CAG)N and (GGN)N Polymorphisms in Patients Experiencing Long-Term Side Effects After Finasteride Discontinuation
Longer CAG and GGN repeats increase alopecia risk, but no significant link to post-finasteride syndrome found.
research Novel Insights Into the Molecular Mechanisms Underlying Generalized Glucocorticoid Resistance and Hypersensitivity Syndromes
Genetic defects in the glucocorticoid receptor gene can cause conditions with abnormal sensitivity to stress hormones, and other factors may also affect this sensitivity.
research Basal Cell Carcinoma, Hedgehog Signaling, and Targeted Therapeutics: The Long and Winding Road
New treatments targeting the Hedgehog pathway can help treat advanced skin cancer but may have side effects and their effectiveness in early stages is unknown.
research Cantú Syndrome with Coexisting Familial Pituitary Adenoma
Cantú syndrome may be linked to pituitary adenomas.
research Androgen Receptor Copy Number Variation and Androgenetic Alopecia: A Case-Control Study
No clear link between androgen receptor variation and hair loss, but more research needed.
research Dermatopathology and Molecular Genetics
Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
research The Effects of Estrogens on Linear Bone Growth
Estrogens are key for bone growth spurts in both boys and girls and affect growth into adulthood.
research The Hair Shaft: Normality, Abnormality, and Genetics
Hair microscopy is useful for diagnosing hair disorders, but clear definitions are needed for accurate genetic analysis.
research Biotin and Acetazolamide for Treatment of an Unusual Child With Autism Plus Lack of Nail and Hair Growth
Biotin and acetazolamide improved hair and nail growth, mental function, and reduced headaches in a child with autism.
research Alopecia in Children
Most hair loss in children is caused by a few common conditions and is easy to diagnose, but rare types require careful evaluation.
research ACE1 rs1799752 Polymorphism Is Not Associated With Long-COVID Symptomatology In Previously Hospitalized COVID-19 Survivors
The ACE1 gene variant doesn't affect long-COVID symptoms.
research Bald Thigh Syndrome in Sighthounds: Revisiting the Cause of a Well-Known Disease
Bald thigh syndrome in sighthounds is caused by structural defects in hair shafts due to downregulated genes and proteins.
research Assessment of Hair and Cashmere Properties and Their Genetic Background of Several Goat Breeds in Southwest China
Crossbreeding improves goat fiber quality, and specific genes affect hair traits and color.
research Bioinformatics Analysis of Genes Associated with Patchy-Type Alopecia Areata: CD2 May Be a New Therapeutic Target
CD2 might be a new treatment target for patchy alopecia areata.
research Hox in the Niche Controls Hair Heterogeneity
Hox genes control hair growth patterns in mammals by regulating stem cell activity in the skin.
research Hypotrichosis With Juvenile Macular Dystrophy
A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
research Arachidonate 12-Lipoxygenase Inhibitors Promote S100A3 Citrullination in Cultured SW480 Cells and Isolated Hair Follicles
Inhibiting ALOX12 can help hair cuticle maturation by increasing S100A3 citrullination.
research 12-O-Tetradecanoylphorbol-13-Acetate Induces Apoptosis in Renal Epithelial Cells Through a Growth Signal Conflict Prevented by Activated Ras
Activated ras can protect kidney cells from a certain substance that causes cell death.
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 Clinical Impact of Molecular Diagnostics in Endocrinology
Molecular diagnostics help identify genetic defects causing endocrine diseases, improving diagnosis and treatment options.