research Nevoid Basal Carcinoma Syndrome (Gorlin Syndrome) and Pronounced Androgenic Alopecia in a Woman with a Novel Mutation p.Leu1159fsx32 in the PTCH Gene
A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.
Search
for
Sort by
Research
960-990 / 1000+ results 
research Sparse Haplotype-Based Fine-Scale Local Ancestry Inference at Scale Reveals Recent Selection on Immune Responses
Recent selection on immune response genes was identified across seven ethnicities.
research Focal Neurotoxicity Associated With Topical 5-Fluorouracil
Topical 5-Fluorouracil can rarely cause nerve damage, especially in people with a certain genetic deficiency.
research Molecular Heterogeneity of Quiescent Melanocyte Stem Cells Revealed by Single-Cell RNA-Sequencing
Different types of inactive melanocyte stem cells exist with unique characteristics and potential to develop into other cells.
research Finding Long-COVID: Temporal Topic Modeling of Electronic Health Records from the N3C and RECOVER Programs
Long-COVID has diverse, long-term health impacts, especially in young people.
research Stabilization of Epithelial Beta-Catenin Compromises Mammary Cell Fate Acquisition and Branching Morphogenesis
Too much β-catenin activity can mess up the development of mammary glands and make them more like hair follicles.
research A Transient Dermal Niche and Dual Epidermal Programs Underlie Sweat Gland Development
Sweat gland development involves two unique skin cell programs and a temporary skin environment.
research New Challenge to Cancer and Longevity
A group has developed therapies that show promise for treating cancer and various other conditions.
research Steroidogenic Factor-1 Lineage Origin of Skin Lesions in Carney Complex Syndrome
Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.
research Genome Scan for Signatures of Adaptive Evolution in Wild African Goat (Capra Nubiana)
Wild African goats have genetic adaptations for surviving harsh desert conditions.
research KIF18B Is a Cell-Type Specific Regulator of Spindle Orientation in the Epidermis
KIF18B is important for correctly positioning cell division machinery in skin cells, affecting hair follicle development.
research Stabilization of Beta-Catenin Promotes Melanocyte Specification at the Expense of the Schwann Cell Lineage
Activating β-catenin increases melanocytes and decreases Schwann cells.
research BJD Editor's Choice: Genetic Mutations in Greek Melanoma Patients, Dermoscopic Features of Pigmented Nodular Tumors, Herlitz Junctional Epidermolysis Bullosa in the Netherlands, and HDAC9 in Male-Pattern Baldness
Some Greek melanoma patients have gene mutations linked to increased cancer risk, a new color feature helps diagnose melanoma, the incidence of a skin condition in the Netherlands is rare, and a gene possibly affects male-pattern baldness.
research Inherited Hairlessness: A Case Study of Familial Congenital Atrichia
The document concludes that the girl's hairlessness is likely inherited from her parents.
research Literature Review on Atopic Dermatitis and Related Studies
Atopic dermatitis may have genetic causes and can be treated with pharmacologic methods, glycerin creams, and controlling Staphylococcus aureus colonization.
research Molecular Principles of Hair Follicle Induction and Morphogenesis
Hair follicle development is controlled by interactions between skin tissues and specific molecular signals.
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 What’s Sex Got to Do With COVID-19? Gender-Based Differences in the Host Immune Response to Coronaviruses
Men generally have more severe COVID-19 cases and higher death rates than women due to biological differences.
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 Zinc Deficiency and Its Management in the Pediatric Population: A Literature Review and Proposed Etiologic Classification
Zinc deficiency in children can cause skin issues and can be serious if not diagnosed and treated properly.
research Frontal Fibrosing Alopecia: Reflections and Hypotheses on Etiology and Pathogenesis
FFA's causes may include environmental triggers and genetic factors.
research Androgen Action in the Ovary
Androgens are important for normal ovarian function and estrogen production, but may not be the main cause of follicle death.
research Optimal Management of Hair Loss (Alopecia) in Children
Effective management of children's hair loss involves accurate diagnosis, various treatments, and supportive care.
research Stem Cell-Derived Motor Neurons from Spinal and Bulbar Muscular Atrophy Patients
The study suggests that motor neurons created from stem cells of patients with spinal and bulbar muscular atrophy show signs of the disease, including changes in protein levels and cell functions.
research Steroid Plant Hormones: Effects Outside the Plant Kingdom
Plant steroid hormones show growth, health, and medicinal benefits in various organisms, including potential for treating diseases.
research Scalp Hair Characteristics in the Newborn Infant
Assessing newborn scalp hair can reveal important health information.
research Androgen Receptor Gene Polymorphism and Polycystic Ovary Syndrome
The conclusion is that androgen receptor gene polymorphism might be a marker for polycystic ovary syndrome, but more research is needed.
research Finasteride and Sexual Side Effects
Finasteride may cause sexual side effects like erectile dysfunction, but they are reversible and affect less than 2% of men.
research Non-Polycystic Ovary Syndrome–Related Endocrine Disorders Associated with Hirsutism
Hirsutism can be caused by various conditions besides PCOS, and it's important to treat the underlying issue and manage symptoms with medication and cosmetic approaches.
research Familial and Sporadic Porphyria Cutanea Tarda
Most patients with Porphyria Cutanea Tarda had skin blisters and were often affected by hepatitis C and alcohol abuse, with differences between familial and sporadic cases.