至今,GenScript的服务及产品已被Cell, Nature, Science, PNAS等1300多家生物医药类杂志引用近万次,处于行业领先水平。NIH、哈佛、耶鲁、斯坦福、普林斯顿、杜克大学等约400家全球著名机构使用GenScript的基因合成、多肽服务、抗体服务和蛋白服务等成功地发表科研成果,再次证明GenScript 有能力帮助业内科学家Make research easy.

Genetic and phenotypic heterogeneity in KIAA0753-related ciliopathies

Am J Med Genet A. 2021-09; 
Katherine A Inskeep, Yuri A Zarate, Danielle Monteil, Jurgen Spranger, Dan Doherty, Rolf W Stottmann, K Nicole Weaver
Products/Services Used Details Operation
Mutagenesis Services … each of six patient variants, which were made by site-directed mutagenesis (Genscript). Plasmids were confirmed to have the correct insert via validation of Sanger sequencing provided by Genscript. Plasmids were transformed into TOP10 competent cells and grown on an LB-… Get A Quote

摘要

Primary ciliopathies are heterogenous disorders resulting from perturbations in primary cilia form and/or function. Primary cilia are cellular organelles which mediate key signaling pathways during development, such as the sonic hedgehog (SHH) pathway which is required for neuroepithelium and central nervous system development. Joubert syndrome is a primary ciliopathy characterized by cerebellar/brain stem malformation, hypotonia, and developmental delays. At least 35 genes are associated with Joubert syndrome, including the gene KIAA0753, which is part of a complex required for primary ciliogenesis. The phenotypic spectrum associated with biallelic pathogenic variants in KIAA0753 is broad and not well-characte... More

关键词

Joubert syndrome, KIAA0753, ciliopathies