research Role of Phenylalanine and Its Metabolites in Health and Neurological Disorders
Phenylalanine may help with depression but can cause issues if not properly processed.
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180-210 / 1000+ resultsresearch Harlequin ichthyosis (ichq): a juvenile lethal mouse mutation with ichthyosiform dermatitis.
The harlequin ichthyosis mouse mutation causes thick skin and early death, resembling a human skin disorder.
research Genetic Hair Disorders: A Review
The conclusion is that genetic testing is important for diagnosing and treating various genetic hair disorders.
research Transglutaminase 3: The Involvement in Epithelial Differentiation and Cancer
TGM3 is important for skin and hair structure and may help diagnose cancer.
research Presence of a Deletion Mutation (c.716delA) in the Ligand Binding Domain of the Vitamin D Receptor in an Indian Patient with Vitamin D-Dependent Rickets Type II
A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
research Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene
A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
research CRISPR/Cas9-mediatedVDRknockout plays an essential role in the growth of dermal papilla cells through enhanced relative genes
Removing the VDR gene in skin cells reduces their growth and affects hair-related genes.
research Drug Repositioning: New Approaches and Future Prospects for Life-Debilitating Diseases and the COVID-19 Pandemic Outbreak
Drug repositioning offers a cost-effective, lower-risk way to treat diseases and pandemics like COVID-19.
research [Congenital hereditary hypotrychosis. Generalized autosomal dominant hypotrichosis with pili torti (hypotrichosis congenita hereditaria Marie Unna)].
A hereditary condition causes hair loss and twisted hair in some family members.
research Biological significance of FoxN1 gain-of-function mutations during T and B lymphopoiesis in juvenile mice
FoxN1 overexpression in young mice harms immune cell and skin development.
research Immunodeficiency Disorders
People with primary immunodeficiencies often have frequent, severe, or unusual infections and may need special tests and management strategies.
research IMMUNOLOGICAL AND GENETIC ASPECTS OF HEREDITARY ANTIBODY DEFICIENCIES
Children with frequent severe infections and low antibodies should be checked for immune deficiencies.
research Genetic defects of brain immunity in childhood herpes simplex encephalitis
research Immunological control of skin development: from homeostasis to developmental pathologies
Immune cells are crucial for normal skin development and their dysfunction can cause skin disorders.
research Cutaneous signals of immune system disease
Skin issues can indicate immune system problems.
research Fatal autoimmunity results from the conditional deletion of Snai2 and Snai3
Deleting Snai2 and Snai3 causes fatal autoimmunity.
research How the Innate Lymphoid Cells Improved Our Understanding of the Mechanisms of Allergic Diseases and Influenced the Standpoint?
Innate lymphoid cells help us understand and manage allergic diseases better.
research Aberrant inflammasome activation as a driving force of human autoimmune skin disease
Faulty inflammasome activation may lead to autoimmune skin diseases and could be a target for new treatments.
research The developing immune network in human prenatal skin
Human prenatal skin develops an immune network early on that helps with skin formation and healing without scarring.
research Developmentally programmed early-age skin localization of iNKT cells supports local tissue development and homeostasis
iNKT cells help develop and maintain healthy skin in young mice.
research IL-1 Receptor–Knockout Mice Develop Epidermal Cysts and Show an Altered Innate Immune Response after Exposure to UVB Radiation
IL-1 receptor absence in mice leads to skin cysts and changes in immune response after UVB exposure.
research Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2
Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.
research Dysregulation of the Immune System in a Natural History Study of 1299 Individuals with Down Syndrome
People with Down syndrome have higher rates of certain immune-related conditions and need special medical attention.
research Eavesdropping on the conversation between immune cells and the skin epithelium
Immune cells help keep skin healthy and repair it, but imbalance can cause disease.
research Clinical perspectives on the age-related increase of immunosuppressive activity
Aging and chronic inflammation weaken the immune system, increasing cancer and infection risks.
research Malnutrition and Allergies: Tipping the Immune Balance towards Health
Proper nutrition can help balance the immune system and reduce allergies.
research Developing human fetal skin demonstrates a unique lymphocyte signature
Fetal skin has unique immune cells different from adult skin.
research Autoimmune skin disease pathogenesis: a chronological immune cascade and multi-hit model
Autoimmune skin diseases result from genetic and environmental factors disrupting immune checkpoints.
research Urticaria Neonatorum: Accumulation of tryptase‐expressing mast cells in the skin lesions of newborns with Erythema Toxicum
Newborns with the common rash Erythema Toxicum have many active mast cells in their skin, but these cells don't produce the LL-37 peptide.
research Inflammatory loops in the epithelial–immune microenvironment of the skin and skin appendages in chronic inflammatory diseases
Chronic inflammatory skin diseases are caused by disrupted interactions between skin cells and immune cells.