• Publications
  • Influence
Bacterial viability and antibiotic susceptibility testing with SYTOX green nucleic acid stain
TLDR
These studies showed that bacterial labeling with SYTOX Green stain is an effective alternative to conventional methods for measuring bacterial viability and antibiotic susceptibility.
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.
TLDR
Recurrent molecular lesions that elude syndromic classification and whose disease manifestations must be considered in a broader context of development as opposed to being assigned to a specific disease are identified.
Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders
TLDR
The identification of a novel 421 kb de novo SHANK2 deletion in a patient with autism strengthens the role of synaptic gene dysfunction in ASD but also highlights the presence of putative modifier genes, in keeping with the “multiple hit model” for ASD.
Efficacy of MitoTracker Green™ and CMXrosamine to measure changes in mitochondrial membrane potentials in living cells and tissues
TLDR
The effects of loss of MMP on MTG and CMXRos fluorescence are reevaluated using both flow cytometry and laser scanning confocal microscopy (LSCM).
Analysis of mitochondrial morphology and function with novel fixable fluorescent stains.
TLDR
CMXRos has the potential to monitor changes in mitochondrial function and was used in conjunction with spectrally distinct fluorescent probes for the cell nucleus and the microtubule network to concomitantly evaluate multiple features of cell morphology.
Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline.
TLDR
The pattern of random joining of chromosomal fragments that is observed here strongly resembles the somatic rearrangement patterns--termed chromothripsis--that have recently been described in deranged cancer cells and it is concluded that a similar mechanism may also drive the formation of de novo structural variation in the germline.
Connecting the CNTNAP2 Networks with Neurodevelopmental Disorders
  • M. Poot
  • Biology, Psychology
    Molecular Syndromology
  • 1 February 2015
TLDR
The impact of CNTNAP2 mutations on its functioning at multiple levels of the combinatorial genetic networks that govern brain development are discussed.
Zoledronic acid exhibits inhibitory effects on osteoblastic and osteolytic metastases of prostate cancer.
TLDR
It is shown that ZA has significant antitumor effects on CaP cells in vitro and in vivo, and antiosteolytic activity and the antitumors effects of this compound could benefit CaP patients with bone metastases.
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