research Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome with Concomitant Lymphopenia: A Novel TP63 Mutation
A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
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research Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis
FOXN1 gene variants cause low T cells and immune issues from birth.
research FOXN1 Deficiency: From the Discovery to Novel Therapeutic Approaches
New treatments for immune disorders caused by FOXN1 deficiency are promising.
research FOXN1 Deficient Nude Severe Combined Immunodeficiency
FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
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 FOXN1: A Master Regulator Gene of Thymic Epithelial Development Program
The FOXN1 gene is crucial for developing immune cells and preventing immune disorders.
research Human FOXN1 Deficiency Is Associated with Alpha Beta Double-Negative and FoxP3 Positive T-Cell Expansions That Are Distinctly Modulated upon Thymic Transplantation
Thymic transplantation normalized some T-cells but not others, maintaining immune function.
research A Microscopy-Based Small Molecule Screen in Primary Neurons Reveals Neuroprotective Properties of the FDA-Approved Anti-Viral Drug Elvitegravir
The anti-viral drug Elvitegravir may protect brain cells from damage related to neurodegenerative diseases.
research Evaluation of Surface Structure and Morphological Phenomena of Caucasian Virgin Hair with Atomic Force Microscopy
AFM can diagnose hair disorders by revealing detailed hair surface changes.
research Hairless: A Nuclear Receptor Corepressor Essential for Skin Function
The Hairless gene is crucial for healthy skin and hair growth.
research A Kindred With Mutant IKAROS and Autoimmunity
A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.