| 1. |
- Sen, Partha, et al.
(author)
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Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain
- 2013
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In: Human Mutation. - : Hindawi Limited. - 1059-7794. ; 34:6, s. 801-811
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Journal article (peer-reviewed)abstract
- Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare and lethal developmental disorder of the lung defined by a constellation of characteristic histopathological features. Nonpulmonary anomalies involving organs of gastrointestinal, cardiovascular, and genitourinary systems have been identified in approximately 80% of patients with ACD/MPV. We have collected DNA and pathological samples from more than 90 infants with ACD/MPV and their family members. Since the publication of our initial report of four point mutations and 10 deletions, we have identified an additional 38 novel nonsynonymous mutations of FOXF1 (nine nonsense, seven frameshift, one inframe deletion, 20 missense, and one no stop). This report represents an up to date list of all known FOXF1 mutations to the best of our knowledge. Majority of the cases are sporadic. We report four familial cases of which three show maternal inheritance, consistent with paternal imprinting of the gene. Twenty five mutations (60%) are located within the putative DNA-binding domain, indicating its plausible role in FOXF1 function. Five mutations map to the second exon. We identified two additional genic and eight genomic deletions upstream to FOXF1. These results corroborate and extend our previous observations and further establish involvement of FOXF1 in ACD/MPV and lung organogenesis.
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| 2. |
- Parameswaran, Poornima, et al.
(author)
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Six RNA Viruses and Forty-One Hosts : Viral Small RNAs and Modulation of Small RNA Repertoires in Vertebrate and Invertebrate Systems
- 2010
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In: PLoS Pathogens. - : Public Library of Science (PLoS). - 1553-7366 .- 1553-7374. ; 6:2, s. e1000764-
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Journal article (peer-reviewed)abstract
- We have used multiplexed high-throughput sequencing to characterize changes in small RNA populations that occur during viral infection in animal cells. Small RNA-based mechanisms such as RNA interference (RNAi) have been shown in plant and invertebrate systems to play a key role in host responses to viral infection. Although homologs of the key RNAi effector pathways are present in mammalian cells, and can launch an RNAi-mediated degradation of experimentally targeted mRNAs, any role for such responses in mammalian host-virus interactions remains to be characterized. Six different viruses were examined in 41 experimentally susceptible and resistant host systems. We identified virus-derived small RNAs (vsRNAs) from all six viruses, with total abundance varying from "vanishingly rare'' (less than 0.1% of cellular small RNA) to highly abundant (comparable to abundant micro-RNAs "miRNAs''). In addition to the appearance of vsRNAs during infection, we saw a number of specific changes in host miRNA profiles. For several infection models investigated in more detail, the RNAi and Interferon pathways modulated the abundance of vsRNAs. We also found evidence for populations of vsRNAs that exist as duplexed siRNAs with zero to three nucleotide 39 overhangs. Using populations of cells carrying a Hepatitis C replicon, we observed strand-selective loading of siRNAs onto Argonaute complexes. These experiments define vsRNAs as one possible component of the interplay between animal viruses and their hosts.
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| 3. |
- Pournik, O, et al.
(author)
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Reliability and validity of Persian version of World Health Organization health and work performance questionnaire in Iranian health care workers
- 2012
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In: The international journal of occupational and environmental medicine. - 2008-6520. ; 3:1, s. 33-38
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Journal article (peer-reviewed)abstract
- BACKGROUND:The effect of health status on productivity has widely been studied and discussed in literature. Valid and reliable tools are needed to evaluate the levels of health and productivity and provide detailed information, before any intervention is implemented. World Health Organization Health and Work Performance Questionnaire (HPQ) is a widely used instrument in estimating the workplace costs of health problems in terms of reduced job performance, sickness absence, and work-related accidents and injuries.OBJECTIVE:To assess the reliability and validity of Persian version of HPQ in Iranian health care workers.METHODS:The questionnaire was translated to Persian and back translated. 102 health care workers completed the questionnaire. Absence and sick-leave data was extracted from administrative records.RESULTS:Factor analysis revealed acceptable validity for the questionnaire in part A (health). Cronbach's alpha was >0.73 for all scales of Parts B (work) and C (demographic). Questions targeting days of absence and sick-leave had acceptable correlation with administrative records (Pearson's r >0.75), while questions on total hours worked showed lower correlation.CONCLUSION:Persian version of HPQ can be considered a reliable and valid tool in Iranian health workers.
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