| 1. |
- Anderson, Beverley H., et al.
(författare)
-
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus
- 2012
-
Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 44:3, s. 338-342
-
Tidskriftsartikel (refereegranskat)abstract
- Coats plus is a highly pleiotropic disorder particularly affecting the eye, brain, bone and gastrointestinal tract. Here, we show that Coats plus results from mutations in CTC1, encoding conserved telomere maintenance component 1, a member of the mammalian homolog of the yeast heterotrimeric CST telomeric capping complex. Consistent with the observation of shortened telomeres in an Arabidopsis CTC1 mutant and the phenotypic overlap of Coats plus with the telomeric maintenance disorders comprising dyskeratosis congenita, we observed shortened telomeres in three individuals with Coats plus and an increase in spontaneous gamma H2AX-positive cells in cell lines derived from two affected individuals. CTC1 is also a subunit of the alpha-accessory factor (AAF) complex, stimulating the activity of DNA polymerase-alpha primase, the only enzyme known to initiate DNA replication in eukaryotic cells. Thus, CTC1 may have a function in DNA metabolism that is necessary for but not specific to telomeric integrity.
|
|
| 2. |
- Bauer, Harald, et al.
(författare)
-
Die Gobholo-Höhle in Swasiland : Expedition in eine der längsten Granithöhlen der Welt
- 2015
-
Ingår i: Die Höhlen. - Wien, Österreich : Verband Österreichischer Höhlenforscher. - 0018-3091. ; 66:1-4, s. 27-42
-
Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- A small part of the Gobholo cave in westernSwaziland (southern Africa) has been usedfor touristic adventure tours for a few years,but the cave has never been surveyed norinvestigated scientifically. An internationalteam of speleologists started exploring, surveyingand documenting the cave in early2014. So far, more than 1 km has been surveyed,making Gobholo cave one of theworld’s longest granite caves and severalcontinuations are still unexplored. The upperparts of the cave are located in a rockfalldeposit overlying the Gobholo river, whereasthe lower parts originated from in-situweathering of the archaic alkali feldspargranite. The river floods large parts of thecave during heavy rainfalls and is responsiblefor the partial removal of the weatheringmaterial out of the cave. Manifold and numerousflowstones (composed of opal-Aand pigotite) probably formed via microbialprocesses. The cave is also a habitat for variousanimal species, including bats, spidersand cave crickets. Archaeologic artefactsprobably dating back to the local Stone Ageand Iron Age bear evidence of a former culturaluse of the cave. A thermal spring wasfound and temperature, CO2 and radonmeasurements provide data about the caveclimate which is characterised by fairly goodventilation. The age of the cave is uncertainbut the only approximately dated archaeologicalartefacts suggest a minimum age of40,000 years.
|
|
| 3. |
- Bobjer, Johannes, et al.
(författare)
-
High prevalence of androgen deficiency and abnormal lipid profile in infertile men with non-obstructive azoospermia.
- 2012
-
Ingår i: International Journal of Andrology. - : Wiley. - 1365-2605 .- 0105-6263. ; 35:5, s. 688-694
-
Tidskriftsartikel (refereegranskat)abstract
- In men with non-obstructive azoospermia (NOA), the risk of hypogonadism is often overlooked. Testicular sperm extraction (TESE) may increase this risk. The objective of this study was to elucidate the prevalence of hypogonadism in NOA-patients, the impact of TESE on hormone balance and the association between testosterone deficiency and dyslipidaemia. Men with NOA who had undergone TESE during the period 2004-2009 were eligible. Hypogonadism was defined as total testosterone <10 nmol/L and/or LH >10 IU/L and/or ongoing androgen replacement therapy. Sixty-five consecutive men who had undergone TESE owing to NOA and from whom post-TESE serum testosterone levels measured before 1100 h were available. Furthermore, 141 fertile men served as controls. Serum concentrations of testosterone, LH and lipids were assessed. Odds ratios (OR) for biochemical hypogonadism were calculated. Pre- and post-TESE hormone levels were compared. Lipid profile was related to testosterone levels. Hypogonadism was found in 47% (95% CI, 0.36, 0.59) of the NOA-men. As compared with fertile controls, the OR for hypogonadism post-TESE was 17 (95% CI 6.6-45). Serum LH (p = 0.03), but not testosterone (p = 0.43), differed significantly pre- and post-TESE. Compared with eugonadal NOA-men, the OR for having deviations in lipid profile was 3.3 (95% CI 1.3-8.8) for the hypogonadal NOA-men. NOA-men are at very high risk of androgen deficiency, which even in young subjects is associated with dyslipidaemia. Medical management of these men should therefore include endocrinological evaluation and follow-up after completion of infertility treatment.
|
|
| 4. |
- Boniolo, Manuel, et al.
(författare)
-
Electronic and geometric structure effects on one-electron oxidation of first-row transition metals in the same ligand framework
- 2021
-
Ingår i: Dalton Transactions. - : Royal Society of Chemistry. - 1477-9226 .- 1477-9234. ; 50:2, s. 660-674
-
Tidskriftsartikel (refereegranskat)abstract
- Developing new transition metal catalysts requires understanding of how both metal and ligand properties determine reactivity. Since metal complexes bearing ligands of the Py5 family (2,6-bis-[(2-pyridyl)methyl] pyridine) have been employed in many fields in the past 20 years, we set out here to understand their redox properties by studying a series of base metal ions (M = Mn, Fe, Co, and Ni) within the Py5OH (pyridine-2,6-diylbis[di-(pyridin-2-yl)methanol]) variant. Both reduced (M-II) and the one-electron oxidized (M-III) species were carefully characterized using a combination of X-ray crystallography, X-ray absorption spectroscopy, cyclic voltammetry, and density-functional theory calculations. The observed metal-ligand interactions and electrochemical properties do not always follow consistent trends along the periodic table. We demonstrate that this observation cannot be explained by only considering orbital and geometric relaxation, and that spin multiplicity changes needed to be included into the DFT calculations to reproduce and understand these trends. In addition, exchange reactions of the sixth ligand coordinated to the metal, were analysed. Finally, by including published data of the extensively characterised Py5OMe (pyridine-2,6-diylbis[di-(pyridin-2-yl)methoxymethane])complexes, the special characteristics of the less common Py5OH ligand were extracted. This comparison highlights the non-innocent effect of the distal OH functionalization on the geometry, and consequently on the electronic structure of the metal complexes. Together, this gives a complete analysis of metal and ligand degrees of freedom for these base metal complexes, while also providing general insights into how to control electrochemical processes of transition metal complexes.
|
|
| 5. |
|
|
| 6. |
- Boniolo, Manuel, et al.
(författare)
-
Spin transition in a ferrous chloride complex supported by a pentapyridine ligand
- 2020
-
Ingår i: Chemical Communications. - : Royal Society of Chemistry. - 1359-7345 .- 1364-548X. ; 56:18, s. 2703-2706
-
Tidskriftsartikel (refereegranskat)abstract
- Ferrous chloride complexes [FeIILxCl] commonly attain a high-spin state independently of the supporting ligand(s) and temperature. Herein, we present the first report of a complete spin crossover with T1/2 = 80 K in [FeII(Py5OH)Cl]+ (Py5OH = pyridine-2,6-diylbis[di(pyridin-2-yl)methanol]). Both spin forms of the complex are analyzed by X-ray spectroscopy and DFT calculations.
|
|
| 7. |
- Boniolo, Manuel, et al.
(författare)
-
Water Oxidation by Pentapyridyl Base Metal Complexes? : A Case Study
- 2022
-
Ingår i: Inorganic Chemistry. - : American Chemical Society (ACS). - 0020-1669 .- 1520-510X. ; 61:24, s. 9104-9118
-
Tidskriftsartikel (refereegranskat)abstract
- The design of molecular water oxidation catalysts (WOCs) requires a rational approach that considers the intermediate steps of the catalytic cycle, including water binding, deprotonation, storage of oxidizing equivalents, O–O bond formation, and O2 release. We investigated several of these properties for a series of base metal complexes (M = Mn, Fe, Co, Ni) bearing two variants of a pentapyridyl ligand framework, of which some were reported previously to be active WOCs. We found that only [Fe(Py5OMe)Cl]+ (Py5OMe = pyridine-2,6-diylbis[di-(pyridin-2-yl)methoxymethane]) showed an appreciable catalytic activity with a turnover number (TON) = 130 in light-driven experiments using the [Ru(bpy)3]2+/S2O82– system at pH 8.0, but that activity is demonstrated to arise from the rapid degradation in the buffered solution leading to the formation of catalytically active amorphous iron oxide/hydroxide (FeOOH), which subsequently lost the catalytic activity by forming more extensive and structured FeOOH species. The detailed analysis of the redox and water-binding properties employing electrochemistry, X-ray absorption spectroscopy (XAS), UV–vis spectroscopy, and density-functional theory (DFT) showed that all complexes were able to undergo the MIII/MII oxidation, but none was able to yield a detectable amount of a MIV state in our potential window (up to +2 V vs SHE). This inability was traced to (i) the preference for binding Cl– or acetonitrile instead of water-derived species in the apical position, which excludes redox leveling via proton coupled electron transfer, and (ii) the lack of sigma donor ligands that would stabilize oxidation states beyond MIII. On that basis, design features for next-generation molecular WOCs are suggested.
|
|
| 8. |
- Buunen, Mark, et al.
(författare)
-
Survival after laparoscopic surgery versus open surgery for colon cancer: long-term outcome of a randomised clinical trial.
- 2009
-
Ingår i: The lancet oncology. - 1474-5488 .- 1470-2045. ; 10:1, s. 44-52
-
Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Laparoscopic surgery for colon cancer has been proven safe, but debate continues over whether the available long-term survival data justify implementation of laparoscopic techniques in surgery for colon cancer. The aim of the COlon cancer Laparoscopic or Open Resection (COLOR) trial was to compare 3-year disease-free survival and overall survival after laparoscopic and open resection of solitary colon cancer. METHODS: Between March 7, 1997, and March 6, 2003, patients recruited from 29 European hospitals with a solitary cancer of the right or left colon and a body-mass index up to 30 kg/m(2) were randomly assigned to either laparoscopic or open surgery as curative treatment in this non-inferiority randomised trial. Disease-free survival at 3 years after surgery was the primary outcome, with a prespecified non-inferiority boundary at 7% difference between groups. Secondary outcomes were short-term morbidity and mortality, number of positive resection margins, local recurrence, port-site or wound-site recurrence, and blood loss during surgery. Neither patients nor health-care providers were blinded to patient groupings. Analysis was by intention-to-treat. This trial is registered with ClinicalTrials.gov, number NCT00387842. FINDINGS: During the recruitment period, 1248 patients were randomly assigned to either open surgery (n=621) or laparoscopic surgery (n=627). 172 were excluded after randomisation, mainly because of the presence of distant metastases or benign disease, leaving 1076 patients eligible for analysis (542 assigned open surgery and 534 assigned laparoscopic surgery). Median follow-up was 53 months (range 0.03-60). Positive resection margins, number of lymph nodes removed, and morbidity and mortality were similar in both groups. The combined 3-year disease-free survival for all stages was 74.2% (95% CI 70.4-78.0) in the laparoscopic group and 76.2% (72.6-79.8) in the open-surgery group (p=0.70 by log-rank test); the difference in disease-free survival after 3 years was 2.0% (95% CI -3.2 to 7.2). The hazard ratio (HR) for disease-free survival (open vs laparoscopic surgery) was 0.92 (95% CI 0.74-1.15). The combined 3-year overall survival for all stages was 81.8% (78.4-85.1) in the laparoscopic group and 84.2% (81.1-87.3) in the open-surgery group (p=0.45 by log-rank test); the difference in overall survival after 3 years was 2.4% (95% CI -2.1 to 7.0; HR 0.95 [0.74-1.22]). INTERPRETATION: Our trial could not rule out a difference in disease-free survival at 3 years in favour of open colectomy because the upper limit of the 95% CI for the difference just exceeded the predetermined non-inferiority boundary of 7%. However, the difference in disease-free survival between groups was small and, we believe, clinically acceptable, justifying the implementation of laparoscopic surgery into daily practice. Further studies should address whether laparoscopic surgery is superior to open surgery in this setting.
|
|
| 9. |
- Dickison, William C., 1941-, et al.
(författare)
-
Paracryphiaceae
- 2016
-
Ingår i: Flowering Plants. Eudicots. - Cham : Springer. - 9783319285320 ; , s. 281-285
-
Bokkapitel (refereegranskat)abstract
- Shrubs to medium-sized trees, some vines. Leaves alternate to almost verticillate (Paracryphia), simple, margins finely serrate or sometimes entire; stipules absent; dense pubescence on young leaves, absent on mature foliage. Flowers in axillary or terminal racemes or compound spikes, bisexual or unisexual (plants andromonoecious); perianth differentiated into 4–5 sepals and 4–5 white, free, deciduous petals (Quintinia), or with undifferentiated perianth of 4 caducous, decussate, concave, free, imbricate segments (Paracryphia); stamens 4–5 (Quintinia) or ca. 8 (Paracryphia) in a single whorl; anthers basifixed, tetrasporangiate, with longitudinal dehiscence; ovary superior (Paracryphia) or inferior (Quintinia); 8–15- (Paracryphia) or 3–5-locular (Quintinia), ovules 4 per locule (Paracryphia) or numerous; style elongated with 3–5-lobed stigma (Quintinia), or absent (Paracryphia). Fruit capsular, septicidal; seeds small, winged in Paracryphia and mostQuintina, copiously endospermic.
|
|
| 10. |
|
|
