Nude severe combined immunodeficiency is a rare inherited disease caused by autosomal recessive loss-of-function mutations in FOXN1. This gene encodes a transcription factor essential for the development of the thymus, the primary lymphoid organ that supports T-cell development and selection. To date...
以“FOXN1 deficiency”“FOXN1 haploinsuffici-ency”“FOXN1缺陷”“FOXN1单倍体不足”为检索词在PubMed、万方数据知识服务平台和中国知网数据库进行文献检索,检索时间为建库至2021年8月31日,共检索到符合要求的英文文献5篇[1-5],无相关中文...
The resemblance of gene expression profiles in the skin of both nude and E14 mice are direct or indirect consequences of the Foxn1 deficiency. Foxn1 appears to regulate the balance between cell proliferation and differentiation and its inactivity creates a pro-regenerative environment....
FOXN1 is the master regulatory gene of thymic epithelium development. FOXN1 deficiency leads to thymic aplasia, alopecia, and nail dystrophy, accounting for the nude/severe combined immunodeficiency (nu/SCID) phenotype in humans and mice. We identified several newborns with low levels of T cell ...
Ancestral Founder Mutation of the Nude (FOXN1) Gene in Congenital Severe Combined Immunodeficiency Associated with Alopecia in Southern Italy Population Pignata C: Ancestral founder mutation of the nude (FOXN1) gene in congenital severe combined immunodeficiency associated with alopecia in southern Italy ...
The FOXN1 leads to congenital alopecia and an alymphoid thymus with severe combined primary T-cell immuno- deficiency,7,44–46 resulting in death in early childhood from severe infections.44,47 Therefore, gene therapy with FOXN1 is one of options to be possibly selected to treat fetal FOXN1...
Neotenic phenomenon in gene expression in the skin of Foxn1-deficient (nude) mice-a projection for regenerative skinwound healing[J]. BMC Genomics, 2017, 18:56. doi: 10.1186/s12864-016-3401-z. [13]Gawronska-Kozak B, Grabowska A, Kur-Piotrowska A, et al. Foxn1 transcription factor ...
FOXN1 DEFICIENCYIMMUNODEFICIENCYThe FOXN1 gene mutation is a unique disorder that causes the nude severe combined immunodeficiency phenotype. In patients with severe combined immunodeficiency, hematopoietic stem cell transplantation (HSCT) is life-saving if performed earlier. Thymic transplantation is the ...
Characteristic of Foxn1 Deficiency Mouse (Nude) Human (Nude/SCID) Mutations in the Foxn1 gene identified in the mouse allele nu, located on chromosomes 11; a single base-pair deletion in the Foxn1 coding sequence leads to a frame shift and premature termination in the DBD [22,67]; ...
In both humans and mice, the Foxn1 gene comprises eight coding exons; however, the first exon exists in two alternatives: exons 1a and 1b, each possessing a unique tissue-specific promoter. Accordingly, promoter 1a is active in the thymus and skin, whereas promoter 1b is present exclusively...