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Sökning: WFRF:(Kolodziejska M.)

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1.
  • Sen, Partha, et al. (författare)
  • 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
  • Ingår i: Human Mutation. - : Hindawi Limited. - 1059-7794. ; 34:6, s. 801-811
  • Tidskriftsartikel (refereegranskat)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.
  • Bialk-Bielinska, A., et al. (författare)
  • Hydrolysis of sulphonamides in aqueous solutions
  • 2012
  • Ingår i: Journal of Hazardous Materials. - : Elsevier BV. - 0304-3894. ; 221-222, s. 264-274
  • Tidskriftsartikel (refereegranskat)abstract
    • Hydrolysis is one of the most common reactions controlling abiotic degradation and is one of the main paths by which substances are degraded in the environment. Nevertheless, the available information on this process for many compounds, including sulphonamides (a group of antibiotic drugs widely used in veterinary medicine), is very limited. This is the first study investigating the hydrolytic stabilities of 12 sulphonamides, which were determined according to OECD guideline 111 (1st category reliability data on the basis of regulatory demands on data quality for the environmental risk assessment of pharmaceuticals). Hydrolysis behaviour was examined at pH values normally found in the environment. This was prefaced by a discussion of the acid-base properties of sulphonamides. All the sulphonamides tested were hydrolytically stable at pH 9.0, nine (apart from sulphadiazine, sulphachloropyridazine and sulphamethoxypyridazine) were stable in this respect at pH 7.0 and two (sulphadiazine and sulphaguanidine) at pH 4.0 (hydrolysis rate <= 10%; t(0.5(25 degrees c)) > 1 year). The degradation products were identified, indicating two independent mechanisms of this process. Our results show that under typical environmental conditions (pH and temperature) sulphonamides are hydrolytically stable with a long half-life; they thus contribute to the on-going assessment of their environmental fate. (C) 2012 Elsevier B.V. All rights reserved.
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