| 1. |
- Bravo, L, et al.
(författare)
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- 2021
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swepub:Mat__t
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| 2. |
- Tabiri, S, et al.
(författare)
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- 2021
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swepub:Mat__t
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| 3. |
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| 4. |
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| 5. |
- Chatron, N., et al.
(författare)
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Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy
- 2020
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Ingår i: Brain. - : Oxford University Press (OUP). - 0006-8950 .- 1460-2156. ; 143:5, s. 1447-1461
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Tidskriftsartikel (refereegranskat)abstract
- Developmental and epileptic encephalopathies are a heterogeneous group of early-onset epilepsy syndromes dramatically impairing neurodevelopment. Modern genomic technologies have revealed a number of monogenic origins and opened the door to therapeutic hopes. Here we describe a new syndromic developmental and epileptic encephalopathy caused by bi-allelic loss-of-function variants in GAD1, as presented by 11 patients from six independent consanguineous families. Seizure onset occurred in the first 2 months of life in all patients. All 10 patients, from whom early disease history was available, presented with seizure onset in the first month of life, mainly consisting of epileptic spasms or myoclonic seizures. Early EEG showed suppression-burst or pattern of burst attenuation or hypsarrhythmia if only recorded in the post-neonatal period. Eight patients had joint contractures and/or pes equinovarus. Seven patients presented a cleft palate and two also had an omphalocele, reproducing the phenotype of the knockout Gad1(-/-) mouse model. Four patients died before 4 years of age. GAD1 encodes the glutamate decarboxylase enzyme GAD67, a critical actor of the c-aminobutyric acid (GABA) metabolism as it catalyses the decarboxylation of glutamic acid to form GABA. Our findings evoke a novel syndrome related to GAD67 deficiency, characterized by the unique association of developmental and epileptic encephalopathies, cleft palate, joint contractures and/or omphalocele.
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| 6. |
- Rosenhahn, Erik, et al.
(författare)
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Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications
- 2022
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Ingår i: American Journal of Human Genetics. - : Cell Press. - 0002-9297 .- 1537-6605. ; 109:8, s. 1421-1435
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Tidskriftsartikel (refereegranskat)abstract
- PPFIBP1 encodes for the liprin-β1 protein, which has been shown to play a role in neuronal outgrowth and synapse formation in Drosophila melanogaster. By exome and genome sequencing, we detected nine ultra-rare homozygous loss-of-function variants in 16 individuals from 12 unrelated families. The individuals presented with moderate to profound developmental delay, often refractory early-onset epilepsy, and progressive microcephaly. Further common clinical findings included muscular hyper- and hypotonia, spasticity, failure to thrive and short stature, feeding difficulties, impaired vision, and congenital heart defects. Neuroimaging revealed abnormalities of brain morphology with leukoencephalopathy, ventriculomegaly, cortical abnormalities, and intracranial periventricular calcifications as major features. In a fetus with intracranial calcifications, we identified a rare homozygous missense variant that by structural analysis was predicted to disturb the topology of the SAM domain region that is essential for protein-protein interaction. For further insight into the effects of PPFIBP1 loss of function, we performed automated behavioral phenotyping of a Caenorhabditis elegans PPFIBP1/hlb-1 knockout model, which revealed defects in spontaneous and light-induced behavior and confirmed resistance to the acetylcholinesterase inhibitor aldicarb, suggesting a defect in the neuronal presynaptic zone. In conclusion, we establish bi-allelic loss-of-function variants in PPFIBP1 as a cause of an autosomal recessive severe neurodevelopmental disorder with early-onset epilepsy, microcephaly, and periventricular calcifications.
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| 7. |
- Abu-Youssef, Morsy A. M., et al.
(författare)
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Synthesis, Crystal Structure, Quantum Chemical Calculations, DNA Interactions, and Antimicrobial Activity of [Ag(2-amino-3-methylpyridine)2]NO3 and [Ag(pyridine-2-carboxaldoxime)NO3]
- 2010
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Ingår i: Inorganic Chemistry. - : American Chemical Society (ACS). - 0020-1669 .- 1520-510X. ; 49:21, s. 9788-9797
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Tidskriftsartikel (refereegranskat)abstract
- [Ag(2-amino-3-methylpyridine)2]NO3 (1) and [Ag(pyridine-2-carboxaldoxime)NO3] (2) were prepared from corresponding ligands and AgNO3 in water/ethanol solutions, and the products were characterized by IR, elemental analysis, NMR, and TGA. The X-ray crystal structures of the two compounds show that the geometry around the silver(I) ion is bent for complex 1 with nitrate as an anion and trigonal planar for complex 2 with nitrate coordinated. ESI-MS results of solutions of 2 indicate the independent existence in solution of the [Ag(pyridine-2-carboxaldoxime)]+ ion. The geometries of the complexes are well described by DFT calculations using the ZORA relativistic approach. The compounds were tested against 14 different clinically isolated and four ATCC standard bacteria and yeasts and also compared with 17 commonly used antibiotics. Both 1 and 2 exhibited considerable activity against S. lutea, M. lutea, and S. aureus and against the yeast Candida albicans, while 2-amino-3-methylpyridine is slightly active and pyridine-2-carboxaldoxime shows no antimicrobial activity. In addition, the interaction of these metal complexes with DNA was investigated. Both 1 and 2 bind to DNA and reduce its electrophoretic mobility with different patterns of migration, while the ligands themselves induce no change.
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| 8. |
- El-Morsy, E. M., et al.
(författare)
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Biodegradative activities of fungal isolates from plastic contaminated soils
- 2017
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Ingår i: Mycosphere. - : Mushroom Research Foundation. - 2077-7000 .- 2077-7019. ; 8:8, s. 1071-1087
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Tidskriftsartikel (refereegranskat)abstract
- Fungal strains were isolated from plastic contaminated soils in open dump sites located in different governorates in Egypt. The isolates showed various abilities in enzymes production that were related to soil origins and characteristics. For example, fungi isolated from El-Sharqia soil were able to produce protease, esterase, lipase followed by those isolated from Ismailia soil. Moreover, isolates with high esterase activity were identified as Monascus ruber, Monascus sanguineus and Monascus sp. The results showed that M. ruber could produce maximum esterase concentration followed by M. sanguineus. The same three Monascus species were selected to assess polyurethane biodegradation. Monascus sp. isolated from El-Sharqia was the most efficient isolate in degradation of polyurethane in the form of Impranil DLN. In addition, SEM micrographs and zeta potential measurements confirmed the adsorption and complex formation between the polyurethane and the hyphae of Monascus sp.
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| 9. |
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| 10. |
- Mautner, F. A., et al.
(författare)
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1D and 3D coordination polymers with the M(mu(1),mu(1)-X)(2)M motif (M = Na, Zn, Cd): Observation of a linear [Na(H2O)(4)](n)(n+) cation and a five-connected sqp-net
- 2007
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Ingår i: Polyhedron. - : Elsevier BV. - 0277-5387. ; 26:12, s. 2703-2712
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Tidskriftsartikel (refereegranskat)abstract
- Three polymeric complexes [Zn(pydz)(N-3)(SO4)](n)[Na(H2O)(4)](n)(H2O)(4n) (1), [Cd(3-ampy)(N-3)Cl](n) (2), and [Cd(DENA)Cl-2(H2O)](n)(3), (pydz = pyridazine or 1,2-diazine, 3-ampy = 3-aminopyridine, DENA = NN-diethylnicotineamide) have been synthesized and characterized by spectral and structural methods and their network topologies analysed. Complex 1 crystallizes in monoclinic C-centred space group C2/m, the Zn(1) center is octahedrally coordinated; and simultaneously bridged by EO-azido, NN'-pydz, and O,O'-sulphato ligands. The ZnN4O2-octahedra form a ID anionic chain along b-axis. The Na(OH2)(6)-octahedra have also common water molecules, thus also forming a 1D chain along b-axis. The cationic and anionic chains are connected via hydrogen bonds of type O-H...O including lattice water molecules to form a supramolecular 3D network structure. In complex 2, the Cd(1) is six-coordinated by two EE-bridging azide groups, and two nitrogen atoms of bridging NN', 3-ampy ligand, and two bridging chloro ligands. The three different bridging ligands connect the distorted octahedra of the Cd(II) centres to form a 3D network structure with the topology of a square pyramidal net (4(3) (.) 6(6)-sqp). The centrosymmetric Cd2Cl2-rings are planar and the NH2- of the 3-ampy groups forms additional hydrogen bonds of type N-H...N to the adjacent azido groups. In complex 3, the octahedrally coordinated Cd(1) centres are occupied by alternating monodentate DENA ligand and a water molecule and the other four sites are occupied by four bridging chloro ligands. Thus the Cd2Cl2-rings form common edges to form 1D chains of Cd(II) octahedra along the b-axis of the monoclinic unit cell. 2D supramolecular sheets extended along the bc-planes of the unit cell are formed by the 0-H...O hydrogen bond. The IR spectra of the three complexes were measured and they confirm the X-ray structural data. (C) 2007 Elsevier Ltd. All rights reserved.
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| 11. |
- Merrien, Magali, et al.
(författare)
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Clinical and biological impact of SAMHD1 expression in mantle cell lymphoma
- 2022
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Ingår i: Virchows Archiv. - : Springer Science and Business Media LLC. - 0945-6317 .- 1432-2307. ; 480:3, s. 655-666
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Tidskriftsartikel (refereegranskat)abstract
- SAMHD1 is a deoxynucleoside triphosphate triphosphohydrolase (dNTPase) that restricts viral replication in infected cells and limits the sensitivity to cytarabine by hydrolysing its active metabolite, as recently shown in acute myeloid leukemia. Cytarabine is an essential component in the Nordic mantle cell lymphoma protocols (MCL2 and MCL3) for induction and high-dose chemotherapy treatment before autologous stem cell transplantation for younger patients with mantle cell lymphoma (MCL). We here investigated the expression of SAMHD1 in a population-based cohort of MCL (N = 150). SAMHD1 was highly variably expressed in MCL (range, 0.4% to 100% of positive tumor cells). Cases with blastoid/pleomorphic morphology had higher SAMHD1 expression (P = 0.028) and SAMHD1 was also correlated to tumor cell proliferation (P = 0.016). SAMHD1 expression showed moderate correlation to the expression of the transcriptional regulator SOX11 (P = 0.036) but genetic silencing of SOX11 and SAMHD1 by siRNA in MCL cell lines did not suggest mutual regulation. We hypothesized that expression of SAMHD1 could predict short time to progression in patients treated with Cytarabine as part of high-dose chemotherapy. Despite the correlation with known biological adverse prognostic factors, neither low or high SAMHD1 expression correlated to PFS or OS in patients treated according to the Nordic MCL2 or MCL3 protocols (N = 158).
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| 12. |
- Shaheen, H. I., et al.
(författare)
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Phenotypic profiles of enterotoxigenic Escherichia coli associated with early childhood diarrhea in rural Egypt
- 2004
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Ingår i: J Clin Microbiol. ; 42:12, s. 5588-95
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Tidskriftsartikel (refereegranskat)abstract
- Enterotoxigenic Escherichia coli (ETEC) causes substantial diarrheal morbidity and mortality in young children in countries with limited resources. We determined the phenotypic profiles of 915 ETEC diarrheal isolates derived from Egyptian children under 3 years of age who participated in a 3-year population-based study. For each strain, we ascertained enterotoxin and colonization factor (CF) expression, the O:H serotype, and antimicrobial susceptibility. Sixty-one percent of the strains expressed heat-stable enterotoxin (ST) only, 26% expressed heat-labile enterotoxin (LT) alone, and 12% expressed both toxins. The most common CF phenotypes were colonization factor antigen I (CFA/I) (10%), coli surface antigen 6 (CS6) (9%), CS14 (6%), and CS1 plus CS3 (4%). Fifty-nine percent of the strains did not express any of the 12 CFs included in our test panel. Resistance of ETEC strains to ampicillin (63%), trimethoprim-sulfamethoxazole (52%), and tetracycline (43%) was common, while resistance to quinolone antibiotics was rarely detected. As for the distribution of observed serotypes, there was an unusually wide diversity of O antigens and H types represented among the 915 ETEC strains. The most commonly recognized composite ETEC phenotypes were ST CS14 O78:H18 (4%), ST (or LTST) CFA/I O128:H12 (3%), ST CS1+CS3 O6:H16 (2%), and ST CFA/I O153:H45 (1.5%). Temporal plots of diarrheal episodes associated with ETEC strains bearing common composite phenotypes were consistent with discrete community outbreaks either within a single or over successive warm seasons. These data suggest that a proportion of the disease that is endemic to young children in rural Egypt represents the confluence of small epidemics by clonally related ETEC strains that are transiently introduced or that persist in a community reservoir.
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