1. ATP alone had no effect on incorporation of fatty acids synthesized de novo and membrane-bound diacylglycerol into triacylglycerol. Combined addition ofATP and Mg2+ totally inhibits incorporation of fatty acids synthesized de novo and stimulated incorporation of membrane-bound diacylglycerol. 2. ATP, Mg2' and glycerol 3phosphate stimulate incorporation of fatty acids synthesized de novo into...

Germline coding de novo mutations (SNVs, indels as well as CNVs) are an important cause of moderate to severe forms of intellectual disability (ID) and associated syndromes. Exome sequencing now allows us to reliably identify these mutations using a single genomic test, and we have recently implemented exome sequencing in the diagnostic follow-up of these patients. In this presentation, I will ...

Background De novo copy number variation (CNV) can occur constitutionally in gametogenesis or in early development leading to sporadic genomic disorders. Such de novo CNVs appear to also be important in somatic mutagenesis relevant to cancer and population events important to species evolution. Since large pathological CNVs are rarely observed at more than one locus in a single patient, and are...

STUDY DESIGN A 12-year prospective study of de novo scoliosis in a community based cohort. OBJECTIVE.: To investigate factors associated with development of de novo scoliosis. SUMMARY OF BACKGROUND DATA De novo scoliosis is becoming one of the most prevalent findings in the aging spine, and this condition is associated not only with severe back or leg symptoms but also with complicated surgic...

BACKGROUND De novo mutations are a frequent cause of disorders related to brain development. We report the results of screening patients diagnosed with both epilepsy and intellectual disability (ID) using exome sequencing to identify known and new causative de novo mutations relevant to these conditions. METHODS Exome sequencing was performed on 39 patient-parent trios to identify de novo mut...

De novo genes, which originate from ancestral nongenic sequences, are one of the most important sources of protein-coding genes. This origination process is crucial for the adaptation of organisms. However, how de novo genes arise and become fixed in a population or species remains largely unknown. Here, we identified 782 de novo genes from the model plant Arabidopsis thaliana and divided them ...

The study investigates the innovation, investment and international trade performance of the russian firms, based on the questionnaire survey data. The data were collected from 150 enterprises of the st. Petersburg area (northwest russia). Half of the firms represented in the survey are de novo and another half consists of stateowned and privatized firms. The study’s hypothesis is that the firm...

A major unresolved question for the 11q23 translocations involving MLL is the chromosomal mechanism(s1 leading to these translocations. We have mapped breakpoints within the 8.3-kb BamHl breakpoint cluster region in 31 patients with acute lymphoblastic leukemia and acute myeloid leukemia (AML) de novo and in 8 t-AML patients. In 23 of 31 leukemia de novo patients, MLL breakpoints mapped to the ...

De novo peptide sequencing by mass spectrometry (MS) can determine the amino acid sequence of an unknown peptide without reference to a protein database. MS-based de novo sequencing assumes special importance in focused studies of families of biologically active peptides and proteins, such as hormones, toxins, and antibodies, for which amino acid sequences may be difficult to obtain through gen...

De novo mutations enrich the sequence diversity and carry the clue of evolutional selection. Recent studies suggest the de novo mutations could be one of the risk factors for complex diseases. We conducted a survey of de novo mutations using the whole genome sequence data but only available on the odd autosomes of Mexican American families provided by Genetic Analysis Workshop 18. We extracted ...