bluuebunny/crossref_metadata_2025_split huggingface dataset:
De novo analysis reveals transcriptomic responses to heat stress in loquat leaves
Authors: Ma Shiwei , Lin Shoukai , Wu Bisha , Lin Hailan , Lin Dahe , Chen Yu , Lin Suying , Lin Shunquan , Wu Jincheng 
Published: September 2021

AbstractTemperature has a vital impact on plant growth and development, and heat stress severely threatens agricultural productivity and food security. High temperatures can cause annual yield reductions and disease in loquat [Eriobotrya japonica (Thunb.) Lindl.]. However, the molecular mechanisms underlying the heat stress response in loquat are not known. In this study, the transcriptome of loquat leaves in response to heat stress was sequenced and assembled de novo, and differentially expressed genes (DEGs) were identified. A total of 16,120 and 11,668 DEGs were identified at 1 and 2 h posttreatment, respectively. Gene ontology (GO) analysis indicated that the DEGs were located in the membrane and endoplasmic reticulum and were related to signal transduction and protein modification. Kyoto Encyclopedia of Genes and Genomes pathway analysis revealed that the heat‐induced DEGs were mainly related to the activation of protein processing in the endoplasmic reticulum and transcription. Ninety‐six heat shock proteins (HSPs) were also found in the protein processing pathway in the endoplasmic reticulum, and most HSPs were induced by heat stress. Heat shock transcription factors regulating the expression of downstream HSPs were induced by heat together with HSPs. This research provides insights into the mechanism of loquat plant heat stress tolerance and paves the way for heat‐tolerant loquat breeding.
Proposing ab initio assisted lattice distortion theory for phase equilibrium: Pure and mixed refrigerant gas hydrates
Authors: Thakre Niraj , Jana Amiya K. 
Published: September 2021

AbstractWith promising applications in cold storage and seawater desalination, various refrigerant gas hydrates are experimentally studied for their phase equilibrium behavior; however, the theoretical modeling to predict their formation conditions is under development. Although a high degree of lattice distortion is expected in these gas hydrates due to highly polar and nonspherical molecules of refrigerants, this issue is not addressed in the van der Waals–Platteeuw theory. With this research gap, we formulate a lattice distortion theory for both pure and mixed refrigerant hydrates. For the first time, ab initio methodology comprising the spin‐component scaled MP2 method with Dunning's basis set is implemented for estimating cavity potential of refrigerant hydrates. The extent of lattice distortion is documented in terms of reference chemical potential and enthalpy differences, which are obtained by regressing the Holder's equation with the experimental data of refrigerant hydrate formation. A critical observation is made that the reference properties linearly vary with the “Boltzmann weighted energy‐well depth” of the guest. Analyzing the accuracy of the model using average absolute relative deviation between experimental and predicted pressure of hydrate formation, the proposed lattice distortion model outperforms the existing thermodynamic models for variety of pure and mixed refrigerant hydrates.
Silver nanoparticles as an effective antimicrobial against otitis media pathogens
Authors: Ma Xiaojing , Lang Jiayan , Chen Pengyu , Yang Rong 
Published: September 2021

AbstractOtitis Media (OM) is the most common reason for US children to receive prescribed oral antibiotics, leading to be a potential to cause antibiotic resistance. To minimize oral antibiotic usage, we developed polyvinylpyrrolidone‐coated silver nanoparticles (AgNPs‐PVP), which completely eradicated common OM pathogens, that is, Streptococcus pneumoniae and nontypeable Haemophilus influenzae (NTHi) at 1.04 and 2.13 μg/ml. The greater antimicrobial efficacy against S. pneumoniae was a result of the H2O2‐producing ability of S. pneumoniae and the known synergistic interactions between H2O2 and AgNPs. To enable the sustained local delivery of AgNPs‐PVP (e.g., via injection through perforated tympanic membranes), a hydrogel formulation of 18%(w/v) P407 was developed. Reverse thermal gelation of the AgNPs‐PVP‐P407 hydrogel could gel rapidly upon entering the warm auditory bullae and thereby sustained release of antimicrobials. This hydrogel‐based local delivery system completely eradicated OM pathogens in vitro without cytotoxicity, and thus represents a promising strategy for treating bacterial OM without relying on conventional antibiotics.
Geometry effect on membrane absorption for CO2 capture. Part I: A hybrid modeling approach
Authors: Fu Kaiyun , Wang Sunyang , Gu Zhenbin , Liu Yushu , Zai Tianming , Li Shijie , Chen Xianfu , Qiu Minghui , Fan Yiqun 
Published: September 2021

AbstractMembrane absorption (MA) has a great prospect for CO2 capture. In MA modeling, conventional one‐dimensional (1D)‐ and two‐dimensional (2D)‐models make simplification of membrane contactor (MC) geometry. Geometry simplification allows an easy process modeling and numerical solution, however, is only reasonable for particular MCs. Here, efforts are underway to quantify the geometry effect on the MA‐CO2 performance. First, we proposed a rigorous 3D model without geometry simplification for simulating the MA‐CO2 process in real MCs and then validated it with experimental data. More importantly, we highlighted a preferable hybrid model in which two correction factors were introduced to a 2D model to make the simulation results approximately equal to the 3D simulation values. The correction factors were correlated with dimensionless fluid dynamic parameters for characterizing the geometry effects on flowing fluids. Such hybrid modeling contributes to characterizing the influence of geometry on the MA‐CO2 performance and improving computation accuracy‐efficiency combinations.
ACFD‐PBMcoupled model under entire turbulent spectrum for simulating a bubble column with highly viscous media
Authors: Zhang Huahai , Wang Yuelin , Sayyar Ali , Wang Tiefeng 
Published: September 2021

AbstractTo account for the effect of liquid viscosity, the bubble breakup model considering turbulent eddy collision based on the inertial subrange turbulent spectrum was extended to the entire turbulent spectrum that included the energy‐containing, inertial, and energy‐dissipation subranges. The computational fluid dynamics‐population balance model coupled model was modified to include this extended bubble breakup model for simulations of a bubble column. The effect of turbulent energy spectrum on the bubble breakup and hydrodynamic behaviors was studied in a bubble column under different liquid viscosities. The results showed that when the liquid viscosity was <80 mPa s, the bubble breakup and hydrodynamics were almost independent on the turbulent spectrum. At liquid viscosity >80 mPa s, the bubble breakup rate and gas holdup were significantly under‐predicted when the inertial turbulent spectrum was used, and when using the entire turbulent spectrum the predictions were more consistent with experimental data.
The relationship between offspring's 2D:4D ratio and postpartum maternal circulating testosterone, estradiol, and their indices in a Ghanaian population
Authors: Banyeh Moses , Amidu Nafiu , Quaye Lawrence 
Published: September 2021

AbstractObjectivesThe 2D:4D ratio is influenced by prenatal testosterone (PT) and estrogen (PE) exposure in utero. This study sought to determine whether evidence of Manning's hypothesis can still be observed even in the postpartum period. We hypothesize that the offspring 2D:4D ratios will be inversely correlated with maternal postpartum circulating testosterone but positively correlated with estradiol.MethodsThis study was conducted between December 2020 and April 2021 and was cross‐sectional in nature. There were 272 mother‐offspring pairs; the mothers were aged between 18 and 36 years while the median (IQR) age of their offspring was 111 (44–210) days. Offspring right (2D:4DR) and left (2D:4DL) digit ratios were measured using computer‐assisted analysis. Sampling was done at 111 (44–210) days postpartum and blood was analyzed for total testosterone (TT), estradiol (E2) and sex hormone‐binding globulins using the enzyme‐linked immunosorbent assay technique.ResultsThe 2D:4DR of sons was significantly lower compared to daughters (p = .031). Mothers with sons had significantly increased levels of serum TT (p = .001) while mothers with daughters had significantly increased levels of E2 (p = .000). As hypothesized, the maternal serum free testosterone (FT%) was inversely correlated with their daughters' (r = −0.320, p = .003), and also with their sons' (r = −0.213, p = .047), 2D:4DL. Unexpectedly, daughters' 2D:4DL was inversely correlated with maternal circulating free E2 (r = −0.255, p = .015).ConclusionsIn humans, evidence of the relationship between maternal testosterone levels and their offspring's 2D:4D ratio may persist even into the postpartum period.
NDE1‐related disorders: A recurrent NDE1 pathogenic variant causing Lissencephaly 4 can also be associated with microhydranencephaly
Authors: Bas Hasan , Saylisoy Suzan , Cilingir Oguz , Gokalp Ebru Erzurumluoglu , Kocagil Sinem , Yarar Coskun , Aras Beyhan Durak , Artan Sevilhan 
Published: September 2021

AbstractNudE Neurodevelopment Protein 1 (NDE1) gene encodes a protein required for microtubule organization, mitosis, and neuronal migration. Biallelic pathogenic variants of NDE1 gene are associated with structural central nervous system abnormalities, specifically microlissencephaly and microhydranencephaly. The root of these different phenotypes remains unclear. Here, we report a 20‐year‐old male patient referred to our clinics due to severe microcephaly, developmental delay, spastic quadriplegia, and dysmorphic features. The cranial computed tomography revealed abnormal brain structure and excess of cerebrospinal fluid, consistent with microhydranencephaly. A homozygous c.684_685del, p.(Pro229TrpfsTer85) change in NDE1 gene was found by clinical exome analysis. The variant has previously been reported in individuals with microlissencephaly, therefore we propose that the same variant within the gene may cause either microlissencephaly or microhydranencephaly phenotypes. There are only a few papers about NDE1‐related disorders in the literature and the patient we described is important to clarify the phenotypic spectrum of the disease.
Mesenteric cysts, lymphatic leak, and cerebral cavernous malformation in a proband with KRIT1‐related disease
Authors: Moller‐Hansen Ashley , Huynh Stephanie , Boerkoel Cornelius F. , Chin Hui‐Lin 
Published: September 2021

AbstractCerebral cavernous malformations (CCMs) of the central nervous system arise sporadically or secondary to genomic variation. Established genetic etiologies include deleterious variants in KRIT1 (CCM1), malcavernin (CCM2), and PDCD10 (CCM3). KRIT1‐related disease has not been described in conjunction with lymphatic defects, although lymphatic defects with abnormal endothelial cell junctions have been observed in mice deficient in HEG1‐KRIT1 signaling. We report a proband with CCMs, multiple chylous mesenteric cysts, and chylous ascites with leaky lymphatic vasculature. Clinical short‐read exome sequencing detected a disease‐associated KRIT1 variant (NM_194456.1:c.[1927C>T];[=], p.(Gln643*)). We postulate an expansion of KRIT1‐related disease to include lymphatic malformations and lymphatic endothelial dysfunction.
Expanding the phenotypic spectrum of cardiospondylocarpofacial syndrome: From a detailed clinical and radiological observation of a boy with a novel missense variant in MAP3K7
Authors: Minatogawa Mari , Miyake Noriko , Tsukahara Yoshinori , Tanabe Yuko , Uchiyama Takamichi , Matsumoto Naomichi , Kosho Tomoki 
Published: September 2021

AbstractCardiospondylocarpofacial syndrome (CSCF; OMIM#157800) is characterized by growth impairment, failure to thrive in infancy, multiple valvular disease, carpal and tarsal fusions, vertebral fusions, and joint hypermobility. It is caused by pathogenic variants of MAP3K7, which encodes transforming growth factor‐β activated kinase 1 (TAK1), a member of the mitogen‐activated protein kinase kinase kinase family (MAPKKK). Only eight individuals with molecularly confirmed CSCF have been reported. Here, we report the first Asian CSCF male with a novel missense variant of MAP3K7 (NM_145331.3: c.467A > T: p.Asp156Val). We compared and reviewed the clinical and molecular findings in previously reported CSCF cases and the present case to better delineate the phenotype of CSCF. In addition to the main symptoms of CSCF, the present case had a mixed phenotype of Ehlers–Danlos syndrome (EDS) and Noonan syndrome. Taking this case together with the previously reported cases, CSCF may overlap with the phenotypes of EDS and Noonan syndrome, suggesting that this finding may contribute to diagnosing CSCF. Another major achievement of this research is to successfully capture the process of carpal fusion in a CSCF case radiographically. This work may expand the phenotypic spectrum of CSCF.
Review of 37 patients with SOX2 pathogenic variants collected by the Anophthalmia/Microphthalmia Clinical Registry and DNA research study
Authors: Amlie‐Wolf Louise , Bardakjian Tanya , Kopinsky Sarina M. , Reis Linda M. , Semina Elena V. , Schneider Adele 
Published: September 2021

AbstractSOX2 variants and deletions are a common cause of anophthalmia and microphthalmia (A/M). This article presents data from a cohort of patients with SOX2 variants, some of whom have been followed for 20+ years. Medical records from patients enrolled in the A/M Research Registry and carrying SOX2 variants were reviewed. Thirty‐seven patients were identified, ranging in age from infant to 30 years old. Eye anomalies were bilateral in 30 patients (81.1%), unilateral in 5 (13.5%), and absent in 2 (5.4%). Intellectual disability was present in all with data available and ranged from mild to profound. Seizures were noted in 18 of 27 (66.6%) patients, usually with abnormal brain MRIs (10/15, 66.7%). Growth issues were reported in 14 of 21 patients (66.7%) and 14 of 19 (73.7%) had gonadotropin deficiency. Genitourinary anomalies were seen in 15 of 19 (78.9%) male patients and 5 of 15 (33.3%) female patients. Patients with SOX2 nucleotide variants, whole gene deletions or translocations are typically affected with bilateral or unilateral microphthalmia and anophthalmia. Other associated features include intellectual disability, seizures, brain anomalies, growth hormone deficiency, gonadotropin deficiency, and genitourinary anomalies. Recommendations for newly diagnosed patients with SOX2 variants include eye exams, MRI of the brain and orbits, endocrine and neurology examinations. Since the clinical spectrum associated with SOX2 alleles has expanded beyond the originally reported phenotypes, we propose a broader term, SOX2‐associated disorder, for this condition.
Investigating perceived heritability of mental health disorders and attitudes toward genetic testing in the United States, United Kingdom, and Australia
Authors: Morosoli José Juan , Colodro‐Conde Lucía , Barlow Fiona Kate , Medland Sarah E. 
Published: September 2021

AbstractOur beliefs about the heritability of psychiatric traits may influence how we respond to the use of genetic information in this area. In the present study, we aim to inform future education campaigns as well as genetic counseling interventions by exploring common fears and misunderstandings associated with learning about genetic predispositions for mental health disorders. We surveyed 3,646 genetic research participants from Australia, and 960 members of the public from the United Kingdom, and the United States, and evaluated attitudes toward psychiatric genetic testing. Participants were asked hypothetical questions about their interest in psychiatric genetic testing, perceived usefulness of psychiatric genetic testing, and beliefs about malleability of behavior, among others. We also asked them to estimate the heritability of alcohol dependence, schizophrenia, and major depression. We found a high interest in psychiatric genetic testing. In most cases, more than a third of the participants showed serious concerns related to learning about personal genetic predisposition, such as not wanting to have children if they knew they had a high genetic predisposition, or not wanting to choose a partner with a high genetic predisposition for a mental health problem. Finally, we found a significant association between most participants' attitudes and their lay estimates of heritability, which highlights the complexity of educating the public about genetics.
Neuropathological Variability within a Spectrum of NMDAR‐Encephalitis
Authors: Zrzavy Tobias , Endmayr Verena , Bauer Jan , Macher Stefan , Mossaheb Nilufar , Schwaiger Carmen , Ricken Gerda , Winklehner Michael , Glatter Sarah , Breu Markus , Wimmer Isabella , Kovacs Gabor G. , Risser Daniele U. , Klupp Nikolaus , Simonitsch‐Klupp Ingrid , Roetzer Thomas , Rommer Paulus , Berger Thomas , Gelpi Ellen , Lassmann Hans , Graus Francesc , Dalmau Josep , Höftberger Romana 
Published: September 2021

ObjectiveTo describe the neuropathological features of N‐methyl‐D‐aspartate receptor (NMDAR)‐encephalitis in an archival autopsy cohort.MethodsWe examined four autopsies from patients with NMDAR‐encephalitis; two patients were untreated, three had comorbidities: small cell lung cancer, brain post‐transplant lymphoproliferative disease (PTLD), and overlapping demyelination.ResultsThe two untreated patients had inflammatory infiltrates predominantly composed of perivascular and parenchymal CD3+/CD8− T cells and CD79a+ B cells/plasma cells in basal ganglia, amygdala, and hippocampus with surrounding white matter. The hippocampi showed a significant decrease of NMDAR‐immunoreactivity that correlated with disease severity. The patient with NMDAR‐encephalitis and immunosuppression for kidney transplantation developed a brain monomorphic PTLD. Inflammatory changes were compatible with NMDAR‐encephalitis. Additionally, plasma cells accumulated in the vicinity of the necrotic tumor along with macrophages and activated microglia that strongly expressed pro‐inflammatory activation markers HLA‐DR, CD68, and IL18. The fourth patient developed demyelinating lesions in the setting of a relapse 4 years after NMDAR‐encephalitis. These lesions exhibited the hallmarks of classic multiple sclerosis with radially expanding lesions and remyelinated shadow plaques without complement or immunoglobulin deposition, compatible with a pattern I demyelination.InterpretationThe topographic distribution of inflammation in patients with NMDAR‐encephalitis reflects the clinical symptoms of movement disorders, abnormal behavior, and memory dysfunction with inflammation dominantly observed in basal ganglia, amygdala, and hippocampus, and loss of NMDAR‐immunoreactivity correlates with disease severity. Co‐occurring pathologies influence the spatial distribution, composition, and intensity of inflammation, which may modify patients’ clinical presentation and outcome. ANN NEUROL 2021;90:725–737
Giant Nonlinear Circular Dichroism from High Q‐Factor Asymmetric Lithium Niobate Metasurfaces
Authors: Liu Qing‐Song , Cheng Bo , Chao Ming‐Hao , Zhang Wen‐Jing , Xu Yun , Song Guo‐Feng 
Published: September 2021

AbstractLithium niobate (LN) is a good nonlinear material with a large second‐order nonlinear polarization coefficient and low optical loss in the UV to mid‐infrared spectral regions. By combining bound states in the continuum (BICs) with chirality, a high conversion efficiency and strong second‐harmonic circular dichroism (SHG‐CD) can be achieved. The simulated results show that the SHG conversion efficiency can reach 1.35 × 10−2% for a peak‐pump intensity of ≈5.3 GW cm−2 in the near‐infrared, and the SHG‐CD can reach 0.98 by introducing a two‐layer structure. Quasi‐BICs are introduced to study nonlinear CD, which provide new insights for the further implementation of spin‐dependent nonlinear applications.
A Solvatochromic Fluorescent Probe Reveals Polarity Heterogeneity upon Protein Aggregation in Cells
Authors: Wan Wang , Zeng Lianggang , Jin Wenhan , Chen Xinxin , Shen Di , Huang Yanan , Wang Mengdie , Bai Yulong , Lyu Haochen , Dong Xuepeng , Gao Zhenming , Wang Lei , Liu Xiaojing , Liu Yu 
Published: September 2021

AbstractWe report a crystallization‐induced emission fluorophore to quantitatively interrogate the polarity of aggregated proteins. This solvatochromic probe, namely “AggRetina” probe, inherently binds to aggregated proteins and exhibits both a polarity‐dependent fluorescence emission wavelength shift and a viscosity‐dependent fluorescence intensity increase. Regulation of its polarity sensitivity was achieved by extending the conjugation length. Different proteins bear diverse polarity upon aggregation, leading to different resistance to proteolysis. Polarity primarily decreases during protein misfolding but viscosity mainly increases upon the formation of insoluble aggregates. We quantified the polarity of aggregated protein‐of‐interest in live cells via HaloTag bioorthogonal labeling, revealing polarity heterogeneity within cellular aggregates. The enriched micro‐environment details inside misfolded and aggregated proteins may correlate to their bio‐chemical properties and pathogenicity.
Comparison of ISO 14902:2001 with AOCS Ba 12a‐2020 for determining trypsin inhibitor activity in protein products
Authors: Liu Keshun 
Published: September 2021

AbstractFor measuring trypsin inhibitor activity (TIA), there are two major official methods: American Oil Chemists Society (AOCS) method Ba 12a‐2020 and International Organization for Standardization (ISO) 14902:2001. The former was recently approved. The two methods differ in sample preparation, extraction, colorimetric assay systems and TIA calculations. In this study, the two methods were symmetrically compared using three unique sets of samples: assorted protein products of soybeans, pulses, and grains; soybeans boiled for varied durations; and soy white flakes toasted for varied durations. For given samples, significant differences existed in TIA measured by the two methods, resulting from effects related to the assay systems and TIA calculations, not from the difference in sample preparation and extraction. When the same trypsin was used, TIA (in mg trypsin inhibited/g sample) measured by the two methods were highly correlated (r = 0.9973, n = 27), giving an equation of y = 0.5464x − 0.4887, where y represents ISO values and x for AOCS values. The line connecting ratios of ISO/AOCS in TIA and AOCS values remained relatively flat around 0.53 but started to curve down when TIA approached the lowest. Furthermore, for the same samples, TIA values measured by the ISO method decreased with increasing specific activity of trypsin used, while AOCS values remained consistent, leading to decreasing ratios of ISO/AOCS. Therefore, accurate and direct comparison of the two methods was impossible. It could not be resolved by simply changing ISO method's calculations as hypothesized earlier. Regardless, for most samples, ISO values were roughly about 55% of AOCS values.