research Hair Follicle Miniaturization in a Woolly Hair Nevus
The boy with woolly hair nevus had thinner hair and abnormal hair follicles, which improved with treatment but worsened when treatment stopped.
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research Overexpression of Hypoxia-Inducible Factor-1α in Hidradenitis Suppurativa: The Link Between Deviated Immunity and Metabolism
Increased HIF-1α is linked to the inflammation and severity of hidradenitis suppurativa, suggesting treatments that lower HIF-1α could help.
research Safety of Whole-Body Abrogation of the TRF1 Shelterin Protein in Wild-Type and Cancer-Prone Mouse Models
Deleting the Trf1 protein in mice is safe and may help prevent cancer without major side effects.
research Non-Dietary Scurvy With Relapse Symptoms After Stopping Oral Vitamin C Supplementation
A 3-year-old girl developed scurvy symptoms that improved with vitamin C but relapsed when supplementation stopped.
research Perturbations in Fatty Acid Metabolism and Collagen Production Infer Pathogenicity of a Novel MBTPS2 Variant in Osteogenesis Imperfecta
A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
research Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – Out of the Woods
Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
research Navigating Diagnostic Uncertainty: Frontal Fibrosing Alopecia Versus Keratosis Pilaris Atrophicans Faciei With Genetic Testing Insights
Genetic testing can help diagnose skin conditions but needs more research for full effectiveness.
research Case Report: A Novel Splice-Site Mutation of MTX2 Gene Caused Mandibuloacral Dysplasia Progeroid Syndrome: The First Report from China and Literature Review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
research Signaling Pathways and Targeted Therapeutic Strategies for Polycystic Ovary Syndrome
Effective PCOS treatments require targeting specific signaling pathways.
research Different Polyamine Levels in the Vertex and Occipital Hair of Pattern Hair Loss Patients
People with pattern hair loss have higher polyamine levels in the top of their head compared to the back.
research Molecular Genetic Dissection of ILVEN Leads to Successful Targeted Therapy
Targeted therapy with Ustekinumab significantly improved a skin condition called ILVEN, which is caused by mutations in the CARD14 gene.
research Specialized Ribosomes in Human Dermal Fibroblast Senescence
Specialized ribosomes affect aging in human skin cells.
research cAMP Response Element-Binding Protein 1 (CREB) Is a β-Catenin-Regulated Transcription Factor in Squamous Cell Carcinoma (SCC) Cells
CREB, a protein that can promote cancer traits, is controlled by β-catenin in skin cancer cells.
research References
research ILDS Newsletter No. 29: Efforts to Improve Lives of Patients with Albinism in Sub-Saharan Africa
The ILDS Newsletter reported on efforts to support albinism patients in Tanzania and dermatological conferences.
research Phenotypic Plasticity: Driver of Cancer Initiation, Progression, and Therapy Resistance
Understanding phenotypic plasticity is crucial for developing effective cancer therapies.
research The Rotterdam Study: 2018 Update on Objectives, Design, and Main Results
The Rotterdam Study updated findings on elderly health, focusing on heart disease, genetics, lifestyle effects, and disease understanding.
research The Rotterdam Study: 2014 Objectives and Design Update
The Rotterdam Study aims to understand disease causes in the elderly and has found new risk factors and genetic influences on various conditions.
research TRP Channels in Skin Biology and Pathophysiology
TRP channels in the skin are important for sensation and health, and targeting them could help treat skin disorders.
research What Causes Hidradenitis Suppurativa?—15 Years After
Hidradenitis suppurativa is caused by genetic factors, inflammation, bacteria, hormones, and lifestyle factors like obesity and smoking.
research Prognosis and Management of Congenital Hair Shaft Disorders with Fragility—Part I
Some congenital hair disorders improve in childhood or with treatments like minoxidil and retinoids, while others like Netherton syndrome and trichothiodystrophy have a poor prognosis.
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 Parkinson's Disease and Skin Disorders: Non-Iatrogenic and Iatrogenic Connections
Parkinson's disease is linked to skin disorders and skin cells help in studying the disease.
research Role of Beta-Catenin Activation Levels and Fluctuations in Controlling Cell Fate
Proper control of β-catenin activity is crucial for development and preventing diseases like cancer.
research Cholesterol Homeostasis: Links to Hair Follicle Biology and Hair Disorders
Cholesterol balance is important for hair health, and problems with it can lead to hair loss conditions.
research Regulatory T Cells in Autoimmune Skin Diseases
Treg dysfunction is linked to various autoimmune skin diseases, and understanding Treg properties is key for new treatments.
research Metabolic and Pathologic Profiles of Human LSS Deficiency Recapitulated in Mice
Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.
research A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation
A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
research Integrative Analysis of Rare Copy Number Variants and Gene Expression Data in Alopecia Areata Implicates an Etiological Role for Autophagy
The research suggests that autophagy-related genes might play a role in causing alopecia areata.
research The Disrupted Balance Between Hair Follicles and Sebaceous Glands in Hoxc13-Ablated Rabbits
Rabbits lacking the Hoxc13 gene show similar hair and skin issues to humans with ECTD-9, making them good for research on this condition.