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- Deng, Min, et al.
(författare)
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Genome-wide association analyses in Han Chinese identify two new susceptibility loci for amyotrophic lateral sclerosis
- 2013
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Ingår i: Nature Genetics. - : Nature Publishing Group. - 1061-4036 .- 1546-1718. ; 45:6, s. 697-
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Tidskriftsartikel (refereegranskat)abstract
- To identify susceptibility genes for amyotrophic lateral sclerosis (ALS), we conducted a genome-wide association study (GWAS) in 506 individuals with sporadic ALS and 1,859 controls of Han Chinese ancestry. Ninety top SNPs suggested by the current GWAS and 6 SNPs identified by previous GWAS were analyzed in an independent cohort of 706 individuals with ALS and 1,777 controls of Han Chinese ancestry. We discovered two new susceptibility loci for ALS at 1q32 (CAMK1G, rs6703183, P-combined = 2.92 x 10(-8), odds ratio (OR) = 1.31) and 22p11 (CABIN1 and SUSD2, rs8141797, P-combined = 2.35 x 10(-9), OR = 1.52). These two loci explain 12.48% of the overall variance in disease risk in the Han Chinese population. We found no association evidence for the previously reported loci in the Han Chinese population, suggesting genetic heterogeneity of disease susceptibility for ALS between ancestry groups. Our study identifies two new susceptibility loci and suggests new pathogenic mechanisms of ALS.
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- Abolhassani, Hassan, et al.
(författare)
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Inherited IFNAR1 Deficiency in a Child with Both Critical COVID-19 Pneumonia and Multisystem Inflammatory Syndrome
- 2022
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Ingår i: Journal of Clinical Immunology. - : Springer Nature. - 0271-9142 .- 1573-2592. ; 42:3, s. 471-483
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Tidskriftsartikel (refereegranskat)abstract
- Background Inborn errors of immunity (IEI) and autoantibodies to type I interferons (IFNs) underlie critical COVID-19 pneumonia in at least 15% of the patients, while the causes of multisystem inflammatory syndrome in children (MIS-C) remain elusive. Objectives To detect causal genetic variants in very rare cases with concomitant critical COVID-19 pneumonia and MIS-C. Methods Whole exome sequencing was performed, and the impact of candidate gene variants was investigated. Plasma levels of cytokines, specific antibodies against the virus, and autoantibodies against type I IFNs were also measured. Results We report a 3-year-old child who died on day 56 of SARS-CoV-2 infection with an unusual clinical presentation, combining both critical COVID-19 pneumonia and MIS-C. We identified a large, homozygous loss-of-function deletion in IFNAR1, underlying autosomal recessive IFNAR1 deficiency. Conclusions Our findings confirm that impaired type I IFN immunity can underlie critical COVID-19 pneumonia, while suggesting that it can also unexpectedly underlie concomitant MIS-C. Our report further raises the possibility that inherited or acquired dysregulation of type I IFN immunity might contribute to MIS-C in other patients.
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- Li, Yongxi, et al.
(författare)
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A fused-ring based electron acceptor for efficient non-fullerene polymer solar cells with small HOMO offset
- 2016
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Ingår i: NANO ENERGY. - : ELSEVIER SCIENCE BV. - 2211-2855. ; 27, s. 430-438
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Tidskriftsartikel (refereegranskat)abstract
- A non-fullerene electron acceptor bearing a novel backbone with fused 10-heterocyclic ring (in-dacenodithiopheno-indacenodiselenophene), denoted by IDTIDSe-IC is developed for fullerene free polymer solar cells. IDTIDSe-IC exhibits a low band gap (E-g=1.52 eV) and strong absorption in the 600850 nm region. Combining with a large band gap polymer J51 (E-g=1.91 eV) as donor, broad absorption coverage from 300 nm to 800 nm is obtained due to complementary absorption of J51 and IDTIDSe-IC, which enables a high PCE of 8.02% with a V-oc of 0.91 V, a J(SC) of 15.16 mA/cm(2) and a FF of 58.0% in the corresponding PSCs. Moreover, the EQE of 50-65% is achieved in the absorption range of IDTIDSe-IC with only about 0.1 eV HOMO difference between J51 and IDTIDSe-IC. (C) 2016 Elsevier Ltd. All rights reserved.
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- Sun, M. D., et al.
(författare)
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New short-lived isotope 223Np and the absence of the Z = 92 subshell closure near N = 126
- 2017
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Ingår i: Physics Letters B. - : Elsevier. - 0370-2693 .- 1873-2445. ; 771, s. 303-308
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Tidskriftsartikel (refereegranskat)abstract
- The N=130 short-lived isotope 223Np was produced as evaporation residue (ER) in the fusion reaction 40Ar + 187Re at the gas-filled recoil separator Spectrometer for Heavy Atom and Nuclear Structure (SHANS). It was identified through temporal and spatial correlations with α decays of 215Ac and/or 211Fr, the third and fourth members of the α-decay chain starting from 223Np. The pileup signals of ER(223Np)–α(223Np)–α(219Pa) were resolved by using the digital pulse processing technique. An α decay with half-life of T1/2=2.15(52100) μs and energy of Eα=9477(44) keV was attributed to 223Np. Spin and parity of 9/2− were tentatively proposed for the ground state of 223Np by combining the reduced α-decay width and large-scale shell-model calculations. This assignment together with the proton separation energy disprove the existence of a Z=92 subshell closure.
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- Abolhassani, Hassan, et al.
(författare)
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Genetic and immunologic evaluation of children with inborn errors of immunity and severe or critical COVID-19
- 2022
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Ingår i: Journal of Allergy and Clinical Immunology. - : Elsevier. - 0091-6749 .- 1097-6825. ; 150:5, s. 1059-1073
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Tidskriftsartikel (refereegranskat)abstract
- Background: Most severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)-infected individuals are asymptomatic or only exhibit mild disease. In about 10% of cases, the infection leads to hypoxemic pneumonia, although it is much more rare in children. Objective: We evaluated 31 young patients aged 0.5 to 19 years who had preexisting inborn errors of immunity (IEI) but lacked a molecular diagnosis and were later diagnosed with coronavirus disease 2019 (COVID-19) complications. Methods: Genetic evaluation by whole-exome sequencing was performed in all patients. SARS-CoV-2-specific antibodies, autoantibodies against type I IFN (IFN-I), and inflammatory factors in plasma were measured. We also reviewed COVID-19 disease severity/outcome in reported IEI patients. Results: A potential genetic cause of the IEI was identified in 28 patients (90.3%), including mutations that may affect IFN signaling, T- and B-cell function, the inflammasome, and the complement system. From tested patients 65.5% had detectable virus-specific antibodies, and 6.8% had autoantibodies neutralizing IFN-I. Five patients (16.1%) fulfilled the diagnostic criteria of multisystem inflammatory syndrome in children. Eleven patients (35.4%) died of COVID-19 complications. All together, at least 381 IEI children with COVID-19 have been reported in the literature to date. Although many patients with asymptomatic or mild disease may not have been reported, severe presentation of COVID-19 was observed in 23.6% of the published cases, and the mortality rate was 8.7%. Conclusions: Young patients with preexisting IEI may have higher mortality than children without IEI when infected with SARS-CoV-2. Elucidating the genetic basis of IEI patients with severe/critical COVID-19 may help to develop better strategies for prevention and treatment of severe COVID-19 disease and complications in pediatric patients.
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