黄金城集团

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.

A De Novo Missense Variant in TUBG2 in a Child with Global Developmental Delay, Microcephaly, Refractory Epilepsy and Perisylvian Polymicrogyria

Genes. 2022-12; 
Salini Thulasirajah, Xueqi Wang, Erick Sell, Jorge Dávila, David A Dyment, Kristin D Kernohan
Products/Services Used Details Operation
Mutagenesis Services The cells were disrupted by sonication and clarified by centrifugation. Two micrograms of mouse anti DYKDDDK (FLAG) tag antibody (A00187; GenScript, Piscataway, NJ, USA) pre-bound to 50 µL of Dynabeads protein G slurry (Invitrogen), then incubated with 150–260 µg of clarified cell lysate in a total volume of 200 µL with gentle agitation at 4 ◦C overnight. Get A Quote

摘要

Polymicrogyria is a brain malformation characterized by excessive folding of the cortex. To date, numerous causes of polymicrogyria have been identified, including variants in the genes associated with tubulinopathies. Herein, we present a child with severe intellectual disability, refractory to treatment seizures, microcephaly and MRI findings consistent with polymicrogyria, closed-lip schizencephaly, periventricular heterotopia and a dysplastic corpus callosum. Exome sequencing identified a de novo missense variant in TUBG2, a gene not associated with human disease. The variant, NM_016437.3 c.747G>A p.(Met249Ile), is absent from available control databases and is predicated to be deleterious by in silico pred... More

关键词

exome sequencing; polymicrogyria; tubulinopathy.