他们主要的研究方向是:studies how human genetic variation impacts human blood cell production or hematopoiesis in health and disease.看最近发表的文章,也基本上是CNS,另外在他们的网站介绍中也提到,他们也在利用新的技术如单细胞转录组,单细胞谱系示踪技术来理解疾病和正常状态下的造血发生。关于他们谱系示踪的文...
英[mjuːˈteɪʃ(ə)n] n.变异;【生】突变;突变种;【语】母音变化 网络变异能力;基因突变;变异品种 复数:mutations 同义词 n. change,alteration,transformation,transmutation,metamorphosis 英汉 英英 网络释义 n. 1. 变化,变异,更换;【生】突变;突变种;【语】母音变化;【乐】(提琴的)变换把位;变声...
Table 1 examples of mutations in human genes Full size table Figure 1 Computation of the information loss score for variations in the protein-coding DNA. (a) Deletion of DNA base "A" at site 143 of the human protein PTEN causes a reading frame-shift (depicted by an arrow to the left o...
Hyperpolarization-activated, cyclic nucleotide–gated (HCN) channels contribute to cationicIhcurrent in neurons and regulate the excitability of neuronal networks. Studies in rat models have shown that theHcn1gene has a key role in epilepsy, but clinical evidence implicatingHCN1mutations in human epilep...
although deletions are found in a relatively small proportion of patients (< 7%). We have mapped the humanJagged1gene (JAG1), encoding a ligand for the developmentally important Notch transmembrane receptor, to the Alagille syndrome critical region within 20p12. The Notch intercellular signalling pa...
However, it is generally accepted that upon activation by agonists, GPR103 couples to Gαq and Gαi/o proteins, leading to a transient rise of intracellular Ca2+ and a reduction of cAMP production in the transfected CHO-K1 and HEK293 cells and in human adrenocortical H295R [2,5,8,14,...
Presenilin proteins are part of a complex of proteins that can cleave many type I transmembrane proteins, including Notch Receptors and the Amyloid Precursor Protein, in the middle of the transmembrane domain. Dominant mutations in the human presenilin genes PS1 and PS2 lead to Familial Alzheimer's...
However, mutation can also disrupt normal gene activity and cause diseases, like cancer. Cancer is the most common human genetic disease; it is caused by mutations occurring in a number of growth-controlling genes. Sometimes faulty, cancer-causing genes can exist from birth, increasing a person’...
4,5 Similarly, β-globin expression is absent in EKLF null mice containing a human β-locus transgene, whereas γ-globin is increased.6 Furthermore, accumulating evidence shows that EKLF also regulates many other erythroid genes and hence plays a critical and central role in erythropoiesis.2,7,...
Associations of Mutations in Six Pancreatic Cancer Genes With Personal and Family History of Cancers eTable 19. Associations Between Mutations in Each Panel Gene and Age of Diagnosis of Pancreatic Cancer Cases eTable 20. Demographic and Clinical Characteristics of Patients With Pancreatic Cancer Included...