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貨期:
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用途:
For Research Use Only. Not for use in diagnostic or therapeutic procedures.
Transcriptional regulator which regulates the development, differentiation, and function of thymic epithelial cells (TECs) both in the prenatal and postnatal thymus. Acts as a master regulator of the TECs lineage development and is required from the onset of differentiation in progenitor TECs in the developing fetus to the final differentiation steps through which TECs mature to acquire their full functionality. Regulates, either directly or indirectly the expression of a variety of genes that mediate diverse aspects of thymus development and function, including MHC Class II, DLL4, CCL25, CTSL, CD40 and PAX1. Regulates the differentiation of the immature TECs into functional cortical TECs (cTECs) and medullary TECs (mTECs). Essential for maintenance of mTECs population in the postnatal thymus. Involved in the morphogenesis and maintenance of the three-dimensional thymic microstructure which is necessary for a fully functional thymus. Plays an important role in the maintenance of hematopoiesis and particularly T lineage progenitors within the bone marrow niche with age. Essential for the vascularization of the thymus anlage. Promotes the terminal differentiation of epithelial cells in the epidermis and hair follicles, partly by negatively regulating the activity of protein kinase C. Plays a crucial role in the early prenatal stages of T-cell ontogeny.
基因功能參考文獻:
FOXN1 founder Italian mutation identified in an indian newborn with severe combined immunodeficiency. PMID: 28636882
Whole-exome sequencing in a South American cohort links ALDH1A3, FOXN1 and RARB/retinoic acid regulation pathways to autism spectrum disorders. PMID: 26352270
Identification of a unique mutation in FOXN1 that led to severe combined immunodeficiency in a female infant is reported. PMID: 25173801
These results show that miR-18b and miR-518b are upstream controllers of FOXN1-directed epithelial lineage development. PMID: 24383669
The retinoid-related orphan receptor RORalpha promotes keratinocyte differentiation via FOXN1. PMID: 23922987
This is the first description of leucoderma occurring in a patient with Foxn1 deficiency, as well as the first report of this pigment abnormality following thymus transplantation. PMID: 22721479
results show that FOXN1 is crucial for in utero T cell development, but not for B and NK cell differentiation PMID: 21507891
role of FOXN1 in immunological disorders characterized by abnormal T-cell development or abnormal T-cell regulatory homeostasis [Review] PMID: 20429426
study uncovered a positive regulatory loop between FGFR3 and FOXN1 that underlies a benign versus malignant skin tumor phenotype PMID: 19729838
Mutation of the FOXN1 gene is associated with congenital severe combined immunodeficiency associated with alopecia PMID: 15180707
These results establish a role for FOXN1 in initiation of terminal differentiation and implicate Akt in subsequent events. PMID: 15316080
Mechanisms and signaling pathways by which Foxn1 modulates keratinocyte differentiation in hair follicle and nail apparatus. Molecular and functional consequences of loss of function of Foxn1 protein in skin. Review. PMID: 16232301
Foxn1 is a sensitive and specific marker for thymoma and thymic carcinoma. PMID: 17592270
Foxn1/FGF2 pathway involved in instructing melanocytes where to place pigment. PMID: 17803914
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相關疾病:
T-cell immunodeficiency, congenital alopecia, and nail dystrophy (TIDAND)