What can ATP content tell us about Barth syndrome muscle phenotypes? [0.03%]
ATP含量能告诉我们关于巴氏综合征肌肉表型什么信息？
Jeffrey J Brault,Simon J Conway
Jeffrey J Brault
Adenosine triphosphate (ATP) is the energy currency within all living cells and is involved in many vital biochemical reactions, including cell viability, metabolic status, cell death, intracellular signaling, DNA and RNA synthesis, puriner...
Reduced protein kinase C delta in a high molecular weight complex in mitochondria and elevated creatine uptake into Barth syndrome B lymphoblasts [0.03%]
巴尔特综合征B淋巴细胞中线粒体蛋白激酶Cδ含量降低及磷酸肌酸摄取升高
Edgard M Mejia,Genevieve C Sparagna,Donald W Miller et al.
Edgard M Mejia et al.
Aim: Barth syndrome (BTHS) is a rare X-linked genetic disease in which mitochondrial oxidative phosphorylation is impaired due to a mutation in the TAFAZZIN gene. The protein kinase C delta (PKCδ) signalosome exists as a...
Lara V Graham,Jack G Fisher,Salim I Khakoo et al.
Lara V Graham et al.
Chimeric antigen receptor (CAR) NK cells are demonstrating promising activity in clinical trials and possess a favorable safety profile compared to CAR-T cells. The Killer cell Immunoglobulin-like Receptors (KIR) have a critical role in the...
Nathan A Berger
Nathan A Berger
Epigenetic effects of high-fat diet on intestinal tumorigenesis in C57BL/6J- Apc Min/+ mice [0.03%]
高脂饮食对C57BL/6J-ApcMin/+小鼠肠道肿瘤发生表观遗传学效应的影响研究
Dan C Qu,Devin Neu,Zain Q Khawaja et al.
Dan C Qu et al.
Aim: Obesity and obesogenic diets might partly accelerate cancer development through epigenetic mechanisms. To determine these early effects, we investigated the impact of three days of a high-fat diet on epigenomic and t...
Brian D Perkins
Brian D Perkins
Inherited retinal degenerations (IRDs) cause permanent vision impairment or vision loss due to the death of rod and cone photoreceptors. Animal models of IRDs have been instrumental in providing knowledge of the pathological mechanisms that...
Novel imaging technologies for genetic diagnoses in the inborn errors of metabolism [0.03%]
新型影像技术在遗传代谢病基因诊断中的应用
Andrea L Gropman,Afrouz Anderson
Andrea L Gropman
Many inborn errors of metabolism and genetic disorders affect the brain. The brain biochemistry may differ from that in the periphery and is not accessible by simple blood and urine sampling. Therefore, neuroimaging has proven to be a valua...
Katelyn Jones,Yanquan Zhang,Yifan Kong et al.
Katelyn Jones et al.
Prostate cancer (PCa) is the most commonly diagnosed malignancy among men, and the progression of this disease results in fewer treatment options available to clinical patients. It highlights the vital necessity for discovering novel therap...
Evaluation of immunologic parameters in canine glioma patients treated with an oncolytic herpes virus [0.03%]
评估溶瘤性疱疹病毒感染犬胶质母细胞瘤的免疫学参数变化
M R Chambers,J B Foote,R T Bentley et al.
M R Chambers et al.
Aim: To molecularly characterize the tumor microenvironment and evaluate immunologic parameters in canine glioma patients before and after treatment with oncolytic human IL-12-expressing herpes simplex virus (M032) and in...
Duo Shared Genomic Segment analysis identifies a genome-wide significant risk locus at 18q21.33 in myeloma pedigrees [0.03%]
双重共享基因组片段分析在骨髓瘤家系中确定了18q21.33处的一个全基因组显著风险位点
Rosalie Griffin Waller,Michael J Madsen,John Gardner et al.
Rosalie Griffin Waller et al.
Aim: High-risk pedigrees (HRPs) are a powerful design to map highly penetrant risk genes. We previously described Shared Genomic Segment (SGS) analysis, a mapping method for single large extended pedigrees that also addre...