| 1. |
- Sen, Partha, et al.
(författare)
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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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Ingår i: Human Mutation. - : Hindawi Limited. - 1059-7794. ; 34:6, s. 801-811
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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. |
- Trybula, Marcela E., et al.
(författare)
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Structure and chemistry of liquid Al-Cu alloys : molecular dynamics study versus thermodynamics-based modelling
- 2018
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Ingår i: Journal of Materials Science. - : SPRINGER. - 0022-2461 .- 1573-4803. ; 53:11, s. 8285-8301
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Tidskriftsartikel (refereegranskat)abstract
- Classical molecular dynamics simulations, employing a modified embedded atom model (MEAM) parametrization recently developed by Trybula, have been performed and combined with thermodynamics-based modelling for weakly interacting compound-forming molten alloys, to investigate the structure and chemistry of liquid Al-Cu alloys over a broad Cu concentration range. The compound-forming model (CFM) based on experimental thermodynamic data revealed the importance of the Al2Cu "associate" in the determination of transport properties such as diffusion and viscosity as well as confirmation of the compound formation ability with regard to the available experimental data. Adequately to this fact, molecular dynamics simulation results showed strong evidence of deviation from regular metallic solution resulting from a preponderance of chemical short-range ordering, expressed by Warren-Cowley parameter and increasing abundance of icosahedral motifs with increasing Cu content. In addition, their strong impact on mass transport properties as well as the excess entropy has been detected which exhibits nonlinear compositional behaviour. Thus, we find that the Stokes-Einstein relation is unsuitable for atom transport properties determination at investigated Cu concentration range, while the Green-Kubo formalism can fully account for the experimentally observed physical phenomena. We obtain a compact and compatible view onto the structure and chemical behaviour, including atom kinetics and thermodynamics, of Al-Cu liquid alloys, which allowed us to find another hard-sphere-like metallic system in which transport properties and thermodynamics are strongly affected by packing effects. The hybrid approach presented herein gave a broader and deeper look into the liquid state of the Al-Cu alloys being missing in the literature.
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