research Role of the Wnt Signaling Pathway in Keratoacanthoma
The Wnt signaling pathway is not a major factor in the development of keratoacanthoma, a type of skin tumor.
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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 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 Lean Women with Polycystic Ovary Syndrome
PCOS in lean women is a serious health condition with implications beyond fertility, affecting metabolism and increasing cardiovascular disease risk.
research In Vitro Hair Dermal Papilla Cells Induction by Fagraea Berteroana, a Tree of the Marquesan Cosmetopoeia (French Polynesia)
Fagraea berteroana fruit extract may promote hair growth by affecting cell proliferation and hair growth pathways.
research Isolation and Structural Identification of a Novel Minoxidil Analogue in an Illegal Dietary Supplement: Triaminodil
A new minoxidil-like substance, triaminodil, was found in an illegal hair growth supplement.
research Acute Pancreatitis Following Finasteride Toxicity: A Rare Case Report
Finasteride overdose can cause acute pancreatitis.
research Comparative Efficacy and Safety of JAK Inhibitors in the Treatment of Moderate-to-Severe Alopecia Areata: A Systematic Review and Network Meta-Analysis
Brepocitinib 30mg is most effective for moderate-to-severe alopecia areata, but ritlecitinib 50mg may offer a better balance of safety and effectiveness.
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 An Atypical Initial Manifestation of Systemic Lupus Erythematosus: Lupus Enteritis Accompanied by Intestinal Pseudo-Obstruction and Bilateral Hydronephroureter
A woman with lupus had rare severe symptoms but improved with treatment.
research Platelet-Rich Plasma: History of Platelet Concentrates and Current Applications in Medicine
PRP helps heal and repair tissues in medicine but needs more research for better use.
research A Brazilian Case of IFAP Syndrome With Severe Congenital Ichthyosis and Limb Malformations Caused by a Rare Variant in MBTPS2
A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
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 The Laboratory in the Multidisciplinary Diagnosis of Differences or Disorders of Sex Development (DSD)
Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.
research Multiple Autoimmune Syndrome With Alopecia Universalis and Immune Thrombocytopenic Purpura
A man with four autoimmune diseases suggests a new category for multiple autoimmune syndrome.
research Inherited Epidermolysis Bullosa: A Clinical Case
A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.
research Genetic Defects of Female Sexual Differentiation
Genetic mutations can affect female sexual development, requiring personalized medical care.
research Posters Presented at the 19th Joint Meeting of the International Society of Dermatopathology, March 2–3, 2016, Hilton Crystal City at Washington Reagan National Airport, Arlington, Virginia, USA
The meeting showcased rare skin disease cases, highlighting the need for accurate diagnosis and treatment.
research Abstracts from the ASA 40th Annual Meeting
HNG may help prevent the negative effects of chemotherapy on sperm production and white blood cell counts.
research Structural and Functional Studies of L-PGDS and SMPDL3A Enzymes in Lipid Signaling Family
L-PGDS has specific binding sites for its functions and could help in drug delivery system design.
research Improved Forensic Hair Evidence for Drugs of Abuse by Mass Spectrometry
Forensic hair analysis for drugs is now more reliable and accurate.
research New Case of Trichorhinophalangeal Syndrome-Like Phenotype with a De Novo t(2;8)(p16.1;q23.3) Translocation Which Does Not Disrupt the TRPS1 Gene
A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
research Complex X Chromosome Rearrangement Associated with Multiorgan Autoimmunity
A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.
research Familial 1q22 Microduplication Associated With Psychiatric Disorders, Intellectual Disability, and Late-Onset Autoimmune Inflammatory Response
A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
research A Case of Recurrent Acute Pancreatitis Following Ocrelizumab Use
Ocrelizumab may cause pancreatitis in some patients.
research Sox21 Regulates Anapc10 Expression and Determines the Fate of Ectodermal Organs
Sox21 is crucial for tooth development and enamel formation by preventing cells from changing into a different type.
research Thiopurines: Recent Topics and Their Role in the Treatment of Inflammatory Bowel Diseases
Thiopurines help treat IBD but require genetic testing to avoid side effects.
research Discordant Phenotype in Monozygotic Twins with Mosaic Trisomy 12p in Lymphocytes
Identical twins had different symptoms because one had more cells with an extra chromosome fragment in different tissues.
research An Early Diagnosis of Trichorhinophalangeal Syndrome Type 1: A Case Report and Review of Literature
Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.
research Epidermal PPARγ Is a Key Homeostatic Regulator of Cutaneous Inflammation and Barrier Function in Mouse Skin
PPARγ is essential for maintaining healthy skin, controlling inflammation, and ensuring proper skin barrier function.