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Sökning: WFRF:(Welty Daniel E.)

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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.
  • Welty, Daniel E., et al. (författare)
  • Detection of interstellar C2 and C3 in the Small Magellanic Cloud
  • 2013
  • Ingår i: Monthly Notices of the Royal Astronomical Society. - : Oxford University Press (OUP). - 0035-8711 .- 1365-2966. ; 428:2, s. 1107-1115
  • Tidskriftsartikel (refereegranskat)abstract
    • We report the detection of absorption from interstellar C2 and C3 towards the moderately reddened star Sk 143, located in the near `wing' region of the SMC, in optical spectra obtained with the European Southern Observatory Very Large Telescope (VLT)/Ultraviolet and Visual Echelle Spectrograph. These detections of C2 (rotational levels J = 0-8) and C3 (J = 0-12) absorption in the SMC are the first beyond our Galaxy. The total abundances of C2 and C3 (relative to H2) are similar to those found in diffuse Galactic molecular clouds - as previously found for CH and CN - despite the significantly lower average metallicity of the Small Magellanic Cloud. Analysis of the rotational excitation of C2 yields an estimated kinetic temperature Tk ˜ 25 K and a moderately high total hydrogen density nH ˜ 870 cm-3 - compared to the T01 ˜ 45 K and nH ˜ 85-300 cm-3 obtained from H2. The populations of the lower rotational levels of C3 are consistent with an excitation temperature of about 34 K.
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