Lynette M Sholl,Janina Longtine,Frank C Kuo
Lynette M Sholl
Molecular analysis complements the clinical and histopathologic tools used to diagnose and subclassify hematologic malignancies. The presence of clonal antigen-receptor gene rearrangements can help to confirm the diagnosis of a B or T cell ...
John F Moore,J Daniel Sharer
John F Moore
Reliable measurement of creatinine is necessary to assess kidney function, and also to quantitate drug levels and diagnostic compounds in urine samples. The most commonly used methods are based on the Jaffe principal of alkaline creatinine-...
High-Risk Screening for Fabry Disease: Analysis by Tandem Mass Spectrometry of Globotriaosylceramide (Gb3 ) in Urine Collected on Filter Paper [0.03%]
法布雷病高危筛查：应用串联质谱分析滤纸采集尿液中三己糖酰基鞘脂醇(Gb3)的方法及其评价
Christiane Auray-Blais,Pamela Lavoie,Michel Boutin et al.
Christiane Auray-Blais et al.
Fabry disease is a complex, panethnic lysosomal storage disorder. It is characterized by the accumulation of glycosphingolipids in tissues, organs, the vascular endothelium, and biological fluids. The reported incidence in different populat...
Generating Exome Enriched Sequencing Libraries from Formalin-Fixed, Paraffin-Embedded Tissue DNA for Next-Generation Sequencing [0.03%]
用于下一代测序的福尔马林固定石蜡包埋组织DNA外显子组富集文库构建
Beth A Marosy,Brian D Craig,Kurt N Hetrick et al.
Beth A Marosy et al.
This unit describes a technique for generating exome-enriched sequencing libraries using DNA extracted from formalin-fixed paraffin-embedded (FFPE) samples. Utilizing commercially available kits, we present a low-input FFPE workflow startin...
Molecular Analysis of Gene Rearrangements and Mutations in Acute Leukemias and Myeloid Neoplasms [0.03%]
急性白血病和骨髓肿瘤基因重排及突变的分子分析
Lynette M Sholl,Janina Longtine,Frank C Kuo
Lynette M Sholl
A subset of acute leukemias and other myeloid neoplasms contains specific genetic alterations, many of which are associated with unique clinical and pathologic features. These alterations include chromosomal rearrangements leading to oncoge...
Highly Expandable Human iPS Cell-Derived Neural Progenitor Cells (NPC) and Neurons for Central Nervous System Disease Modeling and High-Throughput Screening [0.03%]
人多能诱导性干细胞源性中枢神经系统疾病模型及高通量药物筛选用神经前体细胞和神经元的体外高效扩增体系建立
Chialin Cheng,Daniel M Fass,Kat Folz-Donahue et al.
Chialin Cheng et al.
Reprogramming of human somatic cells into induced pluripotent stem (iPS) cells has greatly expanded the set of research tools available to investigate the molecular and cellular mechanisms underlying central nervous system (CNS) disorders. ...
Sarita Goorha,Lawrence T Reiter
Sarita Goorha
A major issue in studying human neurogenetic disorders, especially rare syndromes affecting the nervous system, is the ability to grow neuronal cultures that accurately represent these disorders for analysis. Although there has been some su...
Assay for Transposase-Accessible Chromatin Using Sequencing (ATAC-seq) Data Analysis [0.03%]
基于测序的转座酶可接近性染色质测定(ATAC-seq)数据分析
Kristy L S Miskimen,E Ricky Chan,Jonathan L Haines
Kristy L S Miskimen
The study of epigenetic properties of the human genome, including structural modifications of DNA and chromatin, has increased tremendously as mounting evidence has demonstrated how much epigenetics affects human gene expression. Buenrostro...
Babi Ramesh Reddy Nallamilli,Madhuri Hegde
Babi Ramesh Reddy Nallamilli
Hereditary forms of colorectal cancer (CRC) account for up to 5% of total cases. Familial adenomatous polyposis (FAP) is an autosomal dominant condition affecting nearly 1 in 5000 people and accounts for only about 1% of all CRCs. It is cha...
Human Induced Pluripotent Stem (hiPS) Cells from Urine Samples: A Non-Integrative and Feeder-Free Reprogramming Strategy [0.03%]
尿液诱导多能干细胞（hiPSCs）的制备及其非整合、无饲养层重编程方法
Clara Steichen,Karim Si-Tayeb,Fanny Wulkan et al.
Clara Steichen et al.
Human induced pluripotent stem (hiPS) cell technology has already revolutionized some aspects of fundamental and applied research such as study of disease mechanisms and pharmacology screening. The first clinical trial using hiPS cell-deriv...