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Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency.

J. Clin. Invest.. 2018; 
BoutboulDavid,KuehnHye Sun,Van de WyngaertZoé,NiemelaJulie E,CallebautIsabelle,StoddardJennifer,LenoirChristelle,BarlogisVincent,FarnarierCatherine,VelyFrédéric,YoshidaNao,KojimaSeiji,KaneganeHirokazu,HoshinoAkihiro,HauckFabian,LhermitteLudovic,AsnafiVahid,RoehrsPhilip,ChenShaoying,VerbskyJames W,CalvoKatherine R,HusamiAmmar,ZhangKejian,RobertsJoseph,AmrolDavid,SleasemanJohn,HsuAmy P,HollandSteven M,MarshRebecca,FischerAlain,FleisherThomas A,PicardCapucine,LatourSylvain,RosenzweigSerg
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Mutagenesis Services Indicated mutants for IKZF1 were generated based on the site-directed mutagenesis protocol with AccuPrime Pfx DNA Polymerase (Thermo Fisher Scientific) followed by DpnI treatment (Life Technologies) or Q5 Hot Start High Fidelity polymerase (Thermo Fisher Scientific), followed by KLD treatment (NEB). Human IKAROS family zinc finger 3 (IKZF3/AIOLOS) ORF clone (pcDNA3.1-AIOLOS, NM_012481) was purchased from GenScript. Get A Quote

摘要

Ikaros/IKZF1 is an essential transcription factor expressed throughout hematopoiesis. IKZF1 is implicated in lymphocyte and myeloid differentiation and negative regulation of cell proliferation. In humans, somatic mutations in IKZF1 have been linked to the development of B cell acute lymphoblastic leukemia (ALL) in children and adults. Recently, heterozygous germline IKZF1 mutations have been identified in patients with a B cell immune deficiency mimicking common variable immunodeficiency. These mutations demonstrated incomplete penetrance and led to haploinsufficiency. Herein, we report 7 unrelated patients with a novel early-onset combined immunodeficiency associated with de novo germline IKZF1 heterozy... More

关键词

Genetics,Immunology,Monocytes,Monogenic diseases,T c