| 1. |
- Böhm, Johann, et al.
(author)
-
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.
- 2012
-
In: Human mutation. - : Hindawi Limited. - 1098-1004 .- 1059-7794. ; 33:6, s. 949-59
-
Journal article (peer-reviewed)abstract
- Centronuclear myopathy (CNM) is a genetically heterogeneous disorder associated with general skeletal muscle weakness, type I fiber predominance and atrophy, and abnormally centralized nuclei. Autosomal dominant CNM is due to mutations in the large GTPase dynamin 2 (DNM2), a mechanochemical enzyme regulating cytoskeleton and membrane trafficking in cells. To date, 40 families with CNM-related DNM2 mutations have been described, and here we report 60 additional families encompassing a broad genotypic and phenotypic spectrum. In total, 18 different mutations are reported in 100 families and our cohort harbors nine known and four new mutations, including the first splice-site mutation. Genotype-phenotype correlation hypotheses are drawn from the published and new data, and allow an efficient screening strategy for molecular diagnosis. In addition to CNM, dissimilar DNM2 mutations are associated with Charcot-Marie-Tooth (CMT) peripheral neuropathy (CMTD1B and CMT2M), suggesting a tissue-specific impact of the mutations. In this study, we discuss the possible clinical overlap of CNM and CMT, and the biological significance of the respective mutations based on the known functions of dynamin 2 and its protein structure. Defects in membrane trafficking due to DNM2 mutations potentially represent a common pathological mechanism in CNM and CMT.
|
|
| 2. |
|
|
| 3. |
- Antoniazzi, Igor, et al.
(author)
-
Oxygen intercalated graphene on SiC(0001) : Multiphase SiOx layer formation and its influence on graphene electronic properties
- 2020
-
In: Carbon. - : Elsevier BV. - 0008-6223. ; 167, s. 746-759
-
Journal article (peer-reviewed)abstract
- Low-dimensionality materials are highly susceptible to interfaces. Indeed, intercalation of different chemical species in between epitaxial graphene and silicon carbide (SiC), for instance, may decouple the graphene with respect to the substrate due to the conversion of the buffer layer into a graphene layer. O-intercalation is known to release the strain of such 2D material and to lead to the formation of high structural quality AB-stacked bilayer graphene. Nonetheless, this interface transformation concomitantly degrades graphene electronic transport properties. In this work we employed different techniques in order to better understand the structure of the graphene/SiC interface generated by O-intercalation and to elucidate the origin of the poor electronic properties of graphene. Experimental results revealed the formation of a SiO2 rich layer with a defective transition layer in between it and the SiC, which is characterized by the existence of silicon oxycarbide structures. Scanning tunneling spectroscopy measurements revealed an extensive presence of electronic states just around the Fermi level all over the sample surface, which may suppress the charge carriers mobility around this region. According to theoretical calculations, such states are mainly due to the formation of silicon oxicarbides within the interfacial layer.
|
|
| 4. |
- Muscarella, Robert, et al.
(author)
-
The global abundance of tree palms
- 2020
-
In: Global Ecology and Biogeography. - : Wiley. - 1466-822X .- 1466-8238. ; 29:9, s. 1495-1514
-
Journal article (peer-reviewed)abstract
- AimPalms are an iconic, diverse and often abundant component of tropical ecosystems that provide many ecosystem services. Being monocots, tree palms are evolutionarily, morphologically and physiologically distinct from other trees, and these differences have important consequences for ecosystem services (e.g., carbon sequestration and storage) and in terms of responses to climate change. We quantified global patterns of tree palm relative abundance to help improve understanding of tropical forests and reduce uncertainty about these ecosystems under climate change.LocationTropical and subtropical moist forests.Time periodCurrent.Major taxa studiedPalms (Arecaceae).MethodsWe assembled a pantropical dataset of 2,548 forest plots (covering 1,191 ha) and quantified tree palm (i.e., ≥10 cm diameter at breast height) abundance relative to co‐occurring non‐palm trees. We compared the relative abundance of tree palms across biogeographical realms and tested for associations with palaeoclimate stability, current climate, edaphic conditions and metrics of forest structure.ResultsOn average, the relative abundance of tree palms was more than five times larger between Neotropical locations and other biogeographical realms. Tree palms were absent in most locations outside the Neotropics but present in >80% of Neotropical locations. The relative abundance of tree palms was more strongly associated with local conditions (e.g., higher mean annual precipitation, lower soil fertility, shallower water table and lower plot mean wood density) than metrics of long‐term climate stability. Life‐form diversity also influenced the patterns; palm assemblages outside the Neotropics comprise many non‐tree (e.g., climbing) palms. Finally, we show that tree palms can influence estimates of above‐ground biomass, but the magnitude and direction of the effect require additional work.ConclusionsTree palms are not only quintessentially tropical, but they are also overwhelmingly Neotropical. Future work to understand the contributions of tree palms to biomass estimates and carbon cycling will be particularly crucial in Neotropical forests.
|
|
| 5. |
- Vedovato, Laura B., et al.
(author)
-
Ancient fires enhance Amazon forest drought resistance
- 2023
-
In: Frontiers in Forests and Global Change. - : Frontiers Media SA. - 2624-893X. ; 6
-
Journal article (peer-reviewed)abstract
- Drought and fire reduce productivity and increase tree mortality in tropical forests. Fires also produce pyrogenic carbon (PyC), which persists in situ for centuries to millennia, and represents a legacy of past fires, potentially improving soil fertility and water holding capacity and selecting for the survival and recruitment of certain tree life-history (or successional) strategies. We investigated whether PyC is correlated with physicochemical soil properties, wood density, aboveground carbon (AGC) dynamics and forest resistance to severe drought. To achieve our aim, we used an Amazon-wide, long-term plot network, in forests without known recent fires, integrating site-specific measures of forest dynamics, soil properties and a unique soil PyC concentration database. We found that forests with higher concentrations of soil PyC had both higher soil fertility and lower wood density. Soil PyC was not associated with AGC dynamics in non-drought years. However, during extreme drought events (10% driest years), forests with higher concentrations of soil PyC experienced lower reductions in AGC gains (woody growth and recruitment), with this drought-immunizing effect increasing with drought severity. Forests with a legacy of ancient fires are therefore more likely to continue to grow and recruit under increased drought severity. Forests with high soil PyC concentrations (third quartile) had 3.8% greater AGC gains under mean drought, but 33.7% greater under the most extreme drought than forests with low soil PyC concentrations (first quartile), offsetting losses of up to 0.68 Mg C ha–1yr–1 of AGC under extreme drought events. This suggests that ancient fires have legacy effects on current forest dynamics, by altering soil fertility and favoring tree species capable of continued growth and recruitment during droughts. Therefore, mature forest that experienced fires centuries or millennia ago may have greater resistance to current short-term droughts.
|
|
