RESUMEN
A potential geologic target for CO2 storage should ensure secure containment of injected CO2. Traditionally, this objective has been achieved by targeting reservoirs with overlying seals-regionally extensive, low permeability units that have been proven capable of retaining buoyant fluid accumulations over geologic time. However, considering that the amount of CO2 is limited by a decadal injection period, vertical migration of CO2 can be effectively halted by a composite system of discontinuous shale/silt/mudstone barriers in bedded sedimentary rocks. Here, we studied the impact of depositional architectures in a composite confining system on CO2 migration and confinement at reservoir scale. We stochastically generated lithologically heterogeneous reservoir models containing discontinuous barriers consistent with statistical distributions of net-sand-to-gross-shale ratio (NTG) and horizontal correlation lengths derived from well log data and observations of producing hydrocarbon fields in Southern Louisiana. We then performed an extensive suite of reservoir simulations of CO2 injection and post-injection to evaluate the sensitivity of CO2 plume migration and pressure response of the composite system to a series of geologic and fluid parameters including the lateral continuity of barriers, NTG, permeability anisotropy within the sand body, and capillary pressure contrast between the sand and shale facies. The results indicate that lateral continuity of barriers and NTG are the dominant controls on CO2 plume geometry and pressure build-up in the reservoir, while the impact of NTG is particularly pronounced. The significance of intraformational barriers becomes apparent as they facilitate the local capillary trapping of CO2. Those barriers improve the pore space occupancy by promoting a more dispersed shape of the plume and ultimately retard the buoyancy-driven upward migration of the plume post injection.
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Small-scale (mm-dm scale) heterogeneity has been shown to significantly impact CO2 migration and trapping. To investigate how and why different aspects of small-scale heterogeneity affect the amount of capillary trapping during buoyancy-driven upward migration of CO2, we conducted modified invasion percolation simulations on heterogeneous domains. Realistic simulation domains are constructed by varying two important aspects of small-scale geologic heterogeneity: sedimentary bedform architecture and grain size contrast between the matrix and the laminae facies. Buoyancy-driven flow simulation runs cover 59 bedform architecture and 40 grain size contrast cases. Simulation results show that the domain effective CO2 saturation is strongly affected by both grain size and bedform architecture. At high grain size contrasts, bedforms with continuous ripple lamination at the cm scale tend to retain higher CO2 saturation than bedforms with discontinuous or cross lamination. In addition, the "extremely well sorted" grain sorting cases tend to have lower CO2 saturation than expected for cross-laminated domains. Finally, both a denser CO2 phase and greater interfacial tension increase CO2 saturation. Again, variation in fluid properties seems to have a greater effect on CO2 saturation for cross-laminated domains. This result suggests that differences in bedform architecture can impact how CO2 saturation values respond to other variables such as grain sorting and fluid properties.
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RNA binding proteins are key players in posttranscriptional regulation and have been implicated in neurodevelopmental and neuropsychiatric disorders. Here, we report a significant burden of heterozygous, likely gene-disrupting variants in CSDE1 (encoding a highly constrained RNA binding protein) among patients with autism and related neurodevelopmental disabilities. Analysis of 17 patients identifies common phenotypes including autism, intellectual disability, language and motor delay, seizures, macrocephaly, and variable ocular abnormalities. HITS-CLIP revealed that Csde1-binding targets are enriched in autism-associated gene sets, especially FMRP targets, and in neuronal development and synaptic plasticity-related pathways. Csde1 knockdown in primary mouse cortical neurons leads to an overgrowth of the neurites and abnormal dendritic spine morphology/synapse formation and impaired synaptic transmission, whereas mutant and knockdown experiments in Drosophila result in defects in synapse growth and synaptic transmission. Our study defines a new autism-related syndrome and highlights the functional role of CSDE1 in synapse development and synaptic transmission.
Asunto(s)
Trastorno Autístico/diagnóstico , Trastorno Autístico/genética , Proteínas de Unión al ADN/genética , Predisposición Genética a la Enfermedad , Variación Genética , Neurogénesis/genética , Proteínas de Unión al ARN/genética , Transmisión Sináptica/genética , Adolescente , Animales , Trastorno Autístico/psicología , Niño , Preescolar , Proteínas de Unión al ADN/metabolismo , Modelos Animales de Enfermedad , Femenino , Estudios de Asociación Genética , Sitios Genéticos , Humanos , Masculino , Ratones , Neuronas/metabolismo , Linaje , Fenotipo , Proteínas de Unión al ARN/metabolismo , Sinapsis/genética , Sinapsis/metabolismo , Adulto JovenRESUMEN
Postsynaptic density (PSD) proteins have been implicated in the pathophysiology of neurodevelopmental and psychiatric disorders. Here, we present detailed clinical and genetic data for 20 patients with likely gene-disrupting mutations in TANC2-whose protein product interacts with multiple PSD proteins. Pediatric patients with disruptive mutations present with autism, intellectual disability, and delayed language and motor development. In addition to a variable degree of epilepsy and facial dysmorphism, we observe a pattern of more complex psychiatric dysfunction or behavioral problems in adult probands or carrier parents. Although this observation requires replication to establish statistical significance, it also suggests that mutations in this gene are associated with a variety of neuropsychiatric disorders consistent with its postsynaptic function. We find that TANC2 is expressed broadly in the human developing brain, especially in excitatory neurons and glial cells, but shows a more restricted pattern in Drosophila glial cells where its disruption affects behavioral outcomes.
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Trastornos Mentales/genética , Proteínas del Tejido Nervioso/metabolismo , Trastornos del Neurodesarrollo/genética , Proteínas/genética , Adolescente , Adulto , Animales , Trastorno Autístico/genética , Trastorno Autístico/psicología , Conducta Animal , Encéfalo/metabolismo , Niño , Preescolar , Anomalías Craneofaciales/genética , Discapacidades del Desarrollo/genética , Discapacidades del Desarrollo/psicología , Proteínas de Drosophila/genética , Proteínas de Drosophila/metabolismo , Drosophila melanogaster , Epilepsia/genética , Femenino , Humanos , Discapacidad Intelectual/genética , Discapacidad Intelectual/psicología , Trastornos del Desarrollo del Lenguaje/genética , Trastornos del Desarrollo del Lenguaje/psicología , Masculino , Proteínas de la Membrana/genética , Proteínas de la Membrana/metabolismo , Trastornos Mentales/psicología , Proteínas Musculares/genética , Proteínas Musculares/metabolismo , Mutación , Trastornos del Neurodesarrollo/psicología , Neuroglía/metabolismo , Neuronas/metabolismo , Proteínas/metabolismo , Secuenciación del Exoma , Adulto JovenRESUMEN
This data article provides detailed explanation and data on CO2/water coreflooding experiments performed on nine sandstone rock cores. Refer to the research article "Predicting CO2 Residual Trapping Ability Based on Experimental Petrophysical Properties for Different Sandstone Types" [1] for data interpretation. The reader can expect to find experimental conditions including temperature, pressure, fluid pair types, as well as flow rates. Furthermore, the raw CT images and the processed three-dimensional (3D) voxel-level porosity, permeability, and CO2 saturation maps for each of the nine sandstone samples are also supplied.
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Hypohidrotic ectodermal dysplasia (HED) is a rare hereditary disorder that affects tissues derived from the ectoderm including hair, teeth and sweat glands. EDA is the major causative gene of HED. This study recruited a Chinese family with HED, including a male proband and his mother with a fetus. The proband had typical clinical features of HED and the mother had identical but milder features. Interestingly, some phenotypes of the mother appeared asymmetrically between the right and left side of the body that were not reported in previous studies. Targeted sequencing was performed in the proband and a novel frame-shift mutation (NM_001399.4: c.381_382delinsG, p.Q128Rfs*9) in EDA was found. Sanger sequencing validated the mutation and identified the same mutation in the mother. Our study expands the clinical and genetic spectrum of EDA-related disorders and reports new asymmetrical phenotypes in a female.
Asunto(s)
Displasia Ectodermal Anhidrótica Tipo 1/genética , Ectodisplasinas/genética , Genes Ligados a X/genética , Fenotipo , Adulto , Niño , Análisis Mutacional de ADN , Displasia Ectodermal Anhidrótica Tipo 1/diagnóstico , Femenino , Mutación del Sistema de Lectura , Asesoramiento Genético , Hemicigoto , Heterocigoto , Humanos , MasculinoRESUMEN
Background: We previously performed targeted sequencing of autism risk genes in probands from the Autism Clinical and Genetic Resources in China (ACGC) (phase I). Here, we expand this analysis to a larger cohort of patients (ACGC phase II) to better understand the prevalence, inheritance, and genotype-phenotype correlations of likely gene-disrupting (LGD) mutations for autism candidate genes originally identified in cohorts of European descent. Methods: We sequenced 187 autism candidate genes in an additional 784 probands and 85 genes in 599 probands using single-molecule molecular inversion probes. We tested the inheritance of potentially pathogenic mutations, performed a meta-analysis of phase I and phase II data and combined our results with existing exome sequence data to investigate the phenotypes of carrier parents and patients with multiple hits in different autism risk genes. Results: We validated recurrent, LGD, de novo mutations (DNMs) in 13 genes. We identified a potential novel risk gene (ZNF292), one novel gene with recurrent LGD DNMs (RALGAPB), as well as genes associated with macrocephaly (GIGYF2 and WDFY3). We identified the transmission of private LGD mutations in genes predominantly associated with DNMs and showed that parental carriers tended to share milder autism-related phenotypes. Patients that carried DNMs in two or more candidate genes show more severe phenotypes. Conclusions: We identify new risk genes and transmission of deleterious mutations in genes primarily associated with DNMs. The fact that parental carriers show milder phenotypes and patients with multiple hits are more severe supports a multifactorial model of risk.