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- Aldred, M. A., et al.
(författare)
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BMPR2 gene rearrangements account for a significant proportion of mutations in familial and idiopathic pulmonary arterial hypertension
- 2006
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Ingår i: Hum Mutat.. ; 27:2
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Tidskriftsartikel (refereegranskat)abstract
- Mutations of the BMPR2 gene predispose to pulmonary arterial hypertension (PAH), a serious, progressive disease of the pulmonary vascular system. However, despite the fact that most PAH families are consistent with linkage to the BMPR2 locus, sequencing only identifies mutations in some 55% of familial cases and between 10% and 40% of cases without a family history (idiopathic or IPAH). We therefore conducted a systematic analysis for larger gene rearrangements in panels of both familial and idiopathic PAH cases that were negative on sequencing of coding regions. Analysis of exon dosage across the entire gene using Multiplex Ligation-dependent Probe Amplification identified nine novel rearrangements and enabled full characterization at the exon level of previously reported deletions. Overall, BMPR2 rearrangements were identified in 7 of 58 families and 6 of 126 IPAH cases, suggesting that gross rearrangements underlie around 12% of all FPAH cases and 5% of IPAH. Importantly, two deletions encompassed all functional protein domains and are predicted to result in null mutations, providing the strongest support yet that the predominant molecular mechanism for disease predisposition is haploinsufficiency. Dosage analysis should now be considered an integral of part of the molecular work-up of PAH patients. (c) 2006 Wiley-Liss, Inc.
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- Deppert, Knut, et al.
(författare)
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Epitaxielle Kristallnadeln und -bäume
- 2005
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Ingår i: Book of abstracts: DGKK-Jahrestagung, Köln, Germany (2005).
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)
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- Eng, Mattias P, 1977, et al.
(författare)
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Temperature dependence of electronic coupling through oligo-p-phenyleneethynylene bridges
- 2008
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Ingår i: Chemistry - A European Journal. - : Wiley. - 1521-3765 .- 0947-6539. ; 14:9, s. 2819-2826
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Tidskriftsartikel (refereegranskat)abstract
- A series of donor-bridge-acceptor (D-B-A) systems with varying donor–acceptor distances has been studied with respect to the temperature dependence of the triplet excitation energy transfer (TEET) rates. The donor and acceptor, zinc(II) and free-base porphyrin, respectively, were separated by oligo-p-phenyleneethynylene (OPE) bridges, where the number of phenyleneethynylene groups was varied between two and five, giving rise to edge-to-edge separations ranging between 12.7 and 33.4 Å. The study was performed in 2-MTHF between room temperature and 80 K. It was found that the distance dependence was exponential, in line with the McConnell model, and the attenuation factor, β, was temperature dependent. The experimentally determined temperature dependence of β was evaluated by using a previously derived model for the conformational dependence of the electronic coupling based on results from extensive quantum chemical, DFT and time-dependent DFT (TD-DFT), calculations. Two regimes in the temperature interval could be identified: one high-temperature, low-viscosity regime, and one low-temperature, high-viscosity regime. In the first regime, the temperature dependence of β was, according to the model, well described by a Boltzmann conformational distribution. In the latter, the molecular motions that govern the electronic coupling are slowed down to the same order of magnitude as the TEET rates. This, in effect, leads to a distortion of the conformational distribution. In the high-temperature regime the model could reproduce the temperature dependence of β, and the extracted rotational barrier between two neighboring phenyl units of the bridge structure, Ei=1.1 kJ mol−1, was in line with previous experimental and theoretical studies. After inclusion of parameters that take the viscosity of the medium into account, successful modeling of the experimentally observed temperature dependence of the distance dependence was achieved over the whole temperature interval.
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- Eng, Mattias P, 1977, et al.
(författare)
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Triplet excitation energy transfer in porphyrin-based donor-bridge-acceptor systems with conjugated bridges of varying length: An experimental and DFT study
- 2006
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Ingår i: Journal of Physical Chemistry B. - : American Chemical Society (ACS). - 1520-5207 .- 1520-6106. ; 110:13, s. 6483-6491
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Tidskriftsartikel (refereegranskat)abstract
- A series of donor-bridge-acceptor (D-B-A) systems with varying donor-acceptor distances have been studied with respect to their triplet energy transfer properties. The donor and acceptor moieties, zinc(II), and free-base porphyrin, respectively, were separated by 2-5 oligo-p-phenyleneethynylene units (OPE) giving rise to edge-to-edge separations ranging between 12.7 and 33.4 angstrom. The study was performed in 2-MTHF at 150 K and it was established that triplet excitation energy transfer occurs with high efficiency in all of the studied D-B-A systems. The distance dependence was exponential with an attenuation factor, beta, equal to 0.45 +/- 0.015 angstrom(-1). The experimental study was also supported by quantum mechanical DFT and TD-DFT calculations on a series of closely related model systems. A thorough analysis of the OPE-bridge conformational dynamics led to an equation that quantitatively models the distance dependence of the electronic coupling found in the experimental study.
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- Eng, Mattias P, 1977, et al.
(författare)
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Triplet photophysics of gold(III) porphyrins
- 2005
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Ingår i: Journal of Physical Chemistry A. - : American Chemical Society (ACS). - 1089-5639 .- 1520-5215. ; 109:9, s. 1776-1784
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Tidskriftsartikel (refereegranskat)abstract
- Gold porphyrins are often used as electron-accepting chromophores in donor-acceptor complexes for the study of photoinduced electron transfer, and they can also be involved in triplet-triplet energy-transfer interactions with other chromophores. Since the lowest excited singlet state is very short-lived (240 fs), the triplet state is usually the starting point for the transfer reactions, and it is therefore crucial to understand its photophysics. The triplet state of various gold porphyrins has been reported to have a lifetime of around 1.5 ns at room temperature and to have a biexponential decay both in emission and in transient absorption with decay times of around 10 and 100,us at 80 K. In this paper, the triplet photophysics of two gold porphyrins (Au-III 5,15-bis(3,5-di-tert-butylphenyl)-2,8,12,18-tetraethyl-3,7,13,17-tetrame thylporphyrin and Au-III 5,10,15,20-tetra(3,5-di-tert-butylphenyl)porphyrin) are studied by steady-state and time-resolved absorption and emission spectroscopy over a wide temperature range (4-300 K). The study reveals the existence of a dark state with an approximate lifetime of 50 ns, which was not previously observed. This state acts as an intermediate between the short-lived singlet and the triplet state manifold. In addition, we present DFT calculations, in which the core electrons of the central metal were replaced by a pseudopotential to account for the relativistic effects, which suggest that the lowest excited singlet state is an optically forbidden ligand-to-metal charge-transfer (LMCT) state. This LMCT state is an obvious candidate for the experimentally observed dark state, and it is shown to dictate the photophysical properties of gold porphyrins by acting as a gate for triplet state formation versus direct return to the ground state.
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