| 1. |
- Zakaria, Muhammad, et al.
(författare)
-
Primary microcephaly, primordial dwarfism, and brachydactyly in adult cases with biallelic skipping of RTTN exon 42
- 2019
-
Ingår i: Human Mutation. - : Hindawi Limited. - 1059-7794 .- 1098-1004. ; 40:7, s. 899-903
-
Tidskriftsartikel (refereegranskat)abstract
- Biallelic and pathogenic variants in the RTTN gene, encoding the centrosomal protein Rotatin, are associated with variable degrees of neurodevelopmental abnormalities, microcephaly, and extracranial malformations. To date, no reported case has reached their third decade. Herein, we report on a consanguineous family with three adult members, age 43, 57, and 60 years respectively, with primary microcephaly, developmental delay, primordial dwarfism, and brachydactyly segregating a homozygous splice site variant NM_173630.3:c.5648–5T>A in RTTN. The variant RTTN allele results in a nonhypomorphic skipping of exon 42 and a frameshift [(NP_775901.3:p.Ala1883Glyfs*6)]. Brain MRI of one affected individual showed markedly reduced volume of cerebral lobes and enlarged sulci but without signs of neural migration defects. Our assessment of three adult cases with a biallelic RTTN variant shows that a predicted shortened Rotatin, lacking the C‐terminal end, are associated with stationary clinical features into the seventh decade. Furthermore, our report adds brachydactyly to the phenotypic spectrum in this pleiotropic entity.
|
|
| 2. |
- Aïssa, B., et al.
(författare)
-
Influence of single-walled carbon nanotubes induced exciton dissociation improvement on hybrid organic photovoltaic devices
- 2019
-
Ingår i: Journal of Applied Physics. - : AIP Publishing. - 0021-8979 .- 1089-7550. ; 126:11
-
Tidskriftsartikel (refereegranskat)abstract
- Torch-plasma-grown single-walled carbon nanotubes (SWCNTs) are integrated with regioregular poly(3-hexylthiophene) (P3HT) and a fullerene derivative 1-(3-methoxycarbonyl) propyl-1-phenyl[6,6]C61 (PCBM) as a hybrid photoactive layer for bulk heterojunction solar cell devices. We demonstrate that molecular information could be accurately obtained by time-of-flight secondary ion mass spectrometry throughout the hybrid organic photoactive solar cell layers when sputtering is performed using a Cs+ 2000 eV ion source. Furthermore, the photovoltaic (PV) performance of the fabricated devices show an increase in the short-circuit current density (Jsc) and the fill factor (FF) as compared to the pristine devices fabricated without SWCNTs. The best results are obtained with 0.5 wt. % SWCNT loads, where an open-circuit voltage (VOC) of 660 mV is achieved, with a Jsc of 9.95 mA cm-2 and a FF of 54%, leading to a power conversion efficiency of 3.54% (measured at standard test conditions, AM1.5 g). At this optimum SWCNT concentration of 0.5 wt. %, and to further understand the charge-transfer mechanisms taking place at the interfaces of P3HT:PCBM:SWCNT, Jsc is measured with respect to the light intensity and shows a linear dependency (in the double logarithmic scale), which implies that losses in the charge carrier are rather governed by monomolecular recombination. Finally, our results show that our hybrid devices benefit from the fullerene electron accepting nature and from the SWCNT fast electron transportation feature that improve substantially the exciton dissociation efficiency. The influence of the SWCNTs on the Fermi level and the work function of the photoactive composite and its impact on the PV performance is also investigated.
|
|
| 3. |
- Sarwono, Ariyanti, et al.
(författare)
-
Optimization of ionic liquid assisted sugar conversion and nanofiltration membrane separation for 5-hydroxymethylfurfural
- 2019
-
Ingår i: Journal of Industrial and Engineering Chemistry. - : Elsevier. - 1226-086X .- 1876-794X. ; 69, s. 171-178
-
Tidskriftsartikel (refereegranskat)abstract
- This paper provides complete loop of ionic liquid (IL) assisted glucose conversion to 5-hydroxymethylfurfural (HMF), nanofiltration membrane (NF) based separation and recyclability. The optimum HMF yield of 65.6% was obtained with 8wt.% catalyst loading at 125°C reaction temperature in 120min reaction time. Ea for conversion was found to be 120kJ/mol. NF was adopted first time to separate IL and HMF. The percentage of recovered HMF using NF for 1st, 2nd and 3rd batches are 94.87, 84.35 and 71.65 respectively. The structures of regenerated IL and HMF, obtained from NF and liquid–liquid extraction, were confirmed by NMR.
|
|
