research Clinical Impact of Molecular Diagnostics in Endocrinology
Molecular diagnostics help identify genetic defects causing endocrine diseases, improving diagnosis and treatment options.
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research A Matter of Excessive Hair Growth
A 72-year-old man with sudden taste issues and hair growth was diagnosed with a severe stomach cancer and died within 5 months.
research The Genetic Architecture of Alopecia Areata
Genetic discoveries are leading to new treatments for alopecia areata.
research Vandetanib-Associated Alopecia Areata in a Patient with Metastatic Medullary Thyroid Cancer
A cancer patient developed a type of hair loss after starting a cancer drug called vandetanib.
research Symmetrical Acrokeratoderma: A Peculiar Entity in China? Clinicopathologic and Immunopathologic Study of 34 New Cases
Symmetrical Acrokeratoderma (SAK) may be a unique skin condition in China, lacking specific treatment and needing long-term monitoring.
research Mucocutaneous Manifestations of Endocrine Disorders
Skin symptoms can indicate endocrine disorders and have various treatments.
research Can You Diagnose Hair Loss (Non-Scarring Alopecia)
Non-scarring hair loss can be diagnosed with two 4mm punch biopsies, one cut vertically and the other transversely.
research BRAF Inhibitor Dabrafenib in Patients with Metastatic BRAF-Mutant Thyroid Cancer
Dabrafenib was effective and well tolerated in treating thyroid cancer with a specific mutation.
research Inflammatory and Non-Melanocytic Tumoral Pathology of the Nail
The document concludes that understanding nail anatomy is key for diagnosing nail diseases, early signs of nail melanoma may allow for less aggressive treatment, and specific genetic mutations are important in thyroid cancer prognosis and treatment.
research Expression Patterns of Glial Cell Line-Derived Neurotrophic Factor, Neurturin, Their Cognate Receptors GFRα-1, GFRα-2, and Common Signal Transduction Element c-Ret in Human Skin Hair Follicles
Certain proteins and their receptors are more active during the growth phase of human hair and could be targeted to treat hair disorders.
research The Nuclear Vitamin D Receptor: Biological and Molecular Regulatory Properties Revealed
The vitamin D receptor is crucial for bone health and affects various body systems, with mutations potentially leading to disease.
research Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy
Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
research Abstracts
The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
research Management of a Refractory EIF3E-RSPO2 Fusion Positive Pilomatrical Cancer Patient with Encyclopedic Tumor Analysis Guided Treatment
Personalized treatment based on detailed tumor analysis successfully managed and reduced the patient's aggressive hair follicle cancer.
research Congenital Adrenal Hyperplasia: Current Insights in Pathophysiology, Diagnostics, and Management
Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
research Melanoma: Genetic Abnormalities, Tumor Progression, Clonal Evolution, And Tumor-Initiating Cells
Melanoma's complexity requires personalized treatments due to key genetic mutations and tumor-initiating cells.
research Hidradenitis Suppurativa, Acne Inversa, Dissecting Terminal Hair Folliculitis
Hidradenitis Suppurativa is a chronic skin condition best treated early with surgery for better outcomes and less recurrence.
research GDNF Promotes Hair Formation and Cutaneous Wound Healing by Targeting Bulge Stem Cells
GDNF helps grow hair and heal skin wounds by acting on hair stem cells.
research Frizzled Receptors in Development and Disease
Frizzled receptors are essential for various body development processes and maintaining certain body functions.
research Loss of Msx2 Function Down-Regulates the FoxE3 Expression and Results in Anterior Segment Dysgenesis Resembling Peters Anomaly
Loss of Msx2 function causes eye development issues similar to Peters anomaly.
research Management of Toxicities of Targeted Therapies
Targeted therapies for lung cancer are effective but require careful management of side effects to benefit patients.
research Expression and Function of Nuclear Receptor Co-Activator 4: Evidence of a Potential Role Independent of Co-Activator Activity
NcoA4 may have roles beyond helping control gene activity, possibly affecting cell behavior and stability.
research The PDGF/PDGFR Pathway as a Drug Target
The PDGF/PDGFR pathway is a potential drug target with mixed success in treating various diseases, including some cancers and fibrosis.
research A PAX1 Enhancer Locus Is Associated With Susceptibility to Idiopathic Scoliosis in Females
A genetic region near the PAX1 gene is linked to a higher risk of scoliosis in females.
research Dermatologic Manifestations of Endocrine Disorders
Skin changes can help diagnose and manage endocrine disorders like thyroid problems, diabetes, and adrenal gland conditions.
research Coats' Plus: A Progressive Familial Syndrome of Bilateral Coats' Disease, Characteristic Cerebral Calcification, Leukoencephalopathy, Slow Pre- and Post-Natal Linear Growth, and Defects of Bone Marrow and Integument
Coats' Plus is a genetic disorder with eye abnormalities, brain calcification, poor growth, bone and skin issues, and movement disorders.
research Iron Plays a Certain Role in Patterned Hair Loss
Iron deficiency may contribute to hair loss.
research Clinical Management of Cutaneous Adverse Events in Patients on Targeted Anticancer Therapies and Immunotherapies: A National Consensus Statement by the Spanish Academy of Dermatology and Venereology and the Spanish Society of Medical Oncology
Spanish experts provided guidelines for treating skin side effects in cancer patients on new therapies, stressing early action and teamwork.
research Cross-Sex Hormone Therapy for Gender Dysphoria
Cross-sex hormone therapy is important for managing gender dysphoria and requires careful monitoring and healthcare provider education.
research TRPS1 Mutation Associated with Trichorhinophalangeal Syndrome Type 1 with 15 Supernumerary Teeth, Hypoplastic Mandibular Condyles with Slender Condylar Necks and Unique Hair Morphology
A person with a specific gene mutation had extra teeth, unique jaw and hair features not seen before in this condition.