Hemizygous/homozygous and heterozygous JAK2 mutation detected in plasma of patients with myeloproliferative diseases: correlation with clinical behaviour Ma W, Kantarjian H, Verstovsek S, Jilani I, Gorre M, Giles F et al (2006) Hemizygous/homozygous and heterozygous JAK2 mutation detected in plasma...
Objective: The effects of direct adsorption of lipids LDL-apheresis (DALILDL-a) on plasma cytokines in two Homozygous and heterozygous familial hypercholes... C Stefanutti,A Vivenzio,PM Ferraro,... - 《Cytokine》 被引量: 92发表: 2011年 Long-term effect of low-density lipoprotein apheresis in...
Elevated PCSK9 Levels in Untreated Patients With Heterozygous or Homozygous Familial Hypercholesterolemia and the Response to High‐Dose Statin Therapy Proprotein convertase subtilisin kexin type 9 (PCSK9) is an enzyme that impairs low‐density lipoprotein cholesterol (LDL‐C) clearance from the plasma ...
heterozygous 异源的, homozygous 同源的, hybridization 杂交, phenotypic 表型的, virus 病毒, Embryonic stem cells 胚胎干细胞, green fluorescent protein (GFP) 绿色荧光蛋白, nucleic acid 核酸, prokaryotic 原核的, eukaryotic 真核的, nucleus 细胞核, Deoxyribonucleic acid (DNA) 脱氧核糖核酸, ribonucleic ac...
BHD homozygous null $(BHD^{d/d})$ mice displayed early embryonic lethality at E5.5-E6.5, showing defects in the visceral endoderm. BHD heterozygous knockout $(BHDd^{/+})$ mice appeared normal at birth but developed kidney cysts and solid tumors as they aged (median kidney-lesion-free ...
The Glu 27 form appears to protect against downregulation and is associated with less reactive airways. An individual can be homozygous or heterozygous for given polymorphisms, and large populations will have to be studied to determine their importance to the asthma phenotype. 展开 ...
[30]Fan S, Jiao Y, Khan R, et al. Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans[J]. Am J Hum Genet, 2021, 108(2): 324-336. DOI: 10.1016/j.ajhg.2021.01.010. ...
配体的结合会诱导EFGR二聚化、羧基端酪氨酸的磷酸化,激活下游信号通路,影响细胞增殖、存活、侵袭和血管的发生。酪氨酸激酶ATP的结合结构域发生杂合性(heterozygous mutation)的突变会导致不依赖配体的组成型活化的EGFR通路。目前耐受EGFR药物中最为常见的是EGFR外显子1...
If a mouse has a dominant phenotype (P-), how would you determine if it is homozygous (PP) or heterozygous (Pp)? (如果一只小鼠有显性的表型(P-),你如何判断它是纯合(PP)还是杂合(Pp)的)() A. Cross it to a mouse with the dominant trait but a similarly unknown genotype.(将它与...
Wilson disease (WD) is an autosomal recessive disorder caused by homozygous or compound heterozygous mutations inATP7B. Clinical manifestations primarily i... S Lin,J Cai,Y Huang,... - 《Bmc Medical Genomics》 被引量: 0发表: 2024年 Mutational analysis of ATP7B and genotype–phenotype correlati...