research ГНОТОБИОНТЫ – ЭКСПЕРИМЕНТАЛЬНАЯ МОДЕЛЬ
Controlled microflora in animals delays immune cell maturation and affects immunity.
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research The impact of biomaterial characteristics on macrophage phenotypes in tissue engineering: a review
Biomaterial characteristics can influence macrophages to promote healing and improve tissue regeneration.
research Genetic defects of brain immunity in childhood herpes simplex encephalitis
research Human FOXN1-Deficiency Is Associated with αβ Double-Negative and FoxP3+ T-Cell Expansions That Are Distinctly Modulated upon Thymic Transplantation
Thymic transplantation normalized some T-cells but not others, maintaining immune function.
research Granulocyte colony stimulating factor promotes scarless tissue regeneration
Granulocyte colony stimulating factor helps heal wounds without scars.
research FOXN1 Deficiency: from the Discovery to Novel Therapeutic Approaches
New treatments for immune disorders caused by FOXN1 deficiency are promising.
research Comprehensive Program Planning for the Integration of 21st Century Learning Center After-School Programs with Regular Day Programs and Community Partners.
The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
research Data Sheet 1_The clinical features, muscle pathology, and role of autophagy in anti-Ku-positive patients.docx
Anti-Ku-positive patients often have muscle weakness and autophagy plays a key role in their condition.
research First use of thymus transplantation therapy for FOXN1 deficiency (nude/SCID): a report of 2 cases
Thymus transplantation successfully restored immune function in infants with FOXN1 deficiency.
research Persistent Hypoglycemia and Macrosomia in a Newborn
A newborn with severe low blood sugar due to a genetic issue needed major surgery after standard treatments failed.
research Degradation of human hair keratin scaffold material used to repair injured skeletal muscles of rabbits
Human hair keratin scaffold material degrades in muscles mainly through the ubiquitin system with lysosome help.
research Atypical necrobiosis lipoidica of the face
A 36-year-old man had unusual skin lesions on his face without hair loss.
research Oral syphilis: report of three cases and characterization of the inflammatory cells
The document concludes that recognizing oral lesions is important for diagnosing syphilis.
research A case of lupus miliaris disseminatus faciei after allogeneic hematopoietic stem cell transplantation
A man developed facial skin lesions after a stem cell transplant, which improved with specific treatments.
research Macrophage Activation Syndrome/Secondary Hemophagocytic Lymphohistiocytosis in Adult‐Onset Still's Disease: An Uncommon Initial Presentation in a Young Nepalese Female: A Case Report
Timely and aggressive treatment is crucial for improving outcomes in severe complications of adult-onset Still's disease.
research Primary and Secondary Disturbances in Trace Element Metabolism Connected with Genetic Metabolic Disorders
Genetic disorders can disrupt mineral and trace element metabolism, affecting health.
research Hereditary mucoepithelial dysplasia: unique histopathological findings in skin lesions
The document describes previously unreported unique skin changes in a rare genetic disorder called Hereditary mucoepithelial dysplasia.
research Characterization ofCDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy
CDH3-related disease causes worsening eye and hair issues.
research Pathologic Quiz Case: An Anterior Neck Mass in a 5-Month-Old Female Infant
The neck mass was a rare benign "wattle," surgically removed for diagnosis and appearance.
research Congenital and Hereditary Skin Diseases
Bovines can have rare inherited skin diseases with specific symptoms like hair loss, fragile skin, and abnormal porphyrin buildup.
research Gain‐of‐function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities
ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
research 092 Novel biallelic RIPK4 mutations cause ectodermal dysplasia with cutaneous syndactyly
New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
research A case of systemic mastocytosis - an ultrastructural and immunohistochemical study of the dermal mast cells in relation to activation of the epidermal melanin unit
Prednisone reduces organ mast cell infiltration but does not alter the abnormal appearance of mast cells in systemic mastocytosis.
research Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain
A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
research Steroidogenic Factor-1 Lineage Origin of Skin Lesions in Carney Complex Syndrome
Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.
research A Mosaic Hotspot PLCD1 Variant, Detectable in Blood‐Derived DNA , Associated With Nevus Trichilemmocysticus
A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
research Mucocutaneous findings in pediatric patients with bone marrow transplantation
Skin and mucous membrane issues are common in kids after bone marrow transplants, so careful monitoring is crucial.
research Two Hypomorphic Alleles of Mouse Ass1 as a New Animal Model of Citrullinemia Type I and Other Hyperammonemic Syndromes
Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
research Molecular basis of hypotrichosis with juvenile macular dystrophy in two siblings
A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
research DMBA/TPA Treatment Is Necessary for BCC Formation from Patched Deficient Epidermal Cells in Ptch flox/flox CD4Cre +/− Mice
Genetic mutation and carcinogen treatment are both needed for skin cancer to develop in these specific mice.