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A homozygous nonsense mutation in DNAJC30 causes Leber’s hereditary optic neuropathy with Leigh-like phenotypes

Genes & Diseases 2023年第4期10卷 1165-1168页

作者： Chao Shen Kitty Wang Wei Li alvaro serrano Kelly Powers Chengwan Zhang Jianjun Chen Miao Sun Department of Systems Biology Beckman Research Institute of City of HopeMonroviaCA 91016USA Division of Medical Genetics Department of PediatricsChildren’s Hospital Los Angeles/Keck School of Medicine of USCLos AngelesCA 90027USA Division of Neurology Children’s Hospital Los AngelesLos AngelesCA 90027USA Division of Genomic Medicine Department of Pathology and Laboratory MedicineChildren’s Hospital Los Angeles/Keck School of Medicine of USCLos AngelesCA 90027USA

Nuclear encoded genes can cause early-onset mitochon-dria-related disorders such as Leigh or Leigh-like *** in DNAJC30 have been implicated in mitochondria-related diseases such as Leber’s hereditary optic neuropa-thy(LHON)and Williams syndrome(WS).However,the role of DNAJC30 in disease progression concerning mitochon-drial dysfunction has yet to be fully *** we report a 12-year-old boy with acute dystonia onset at age 10.

关键词： Leigh Leber acute

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Low-cost disordered carbons for Li/S batteries： A high- performance carbon with dual porosity derived from cherry pits

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Nano Research 2018年第1期11卷 89-100页

作者： Celia Hernandez-Rentero Rafael Cordoba Noelia Moreno alvaro Caballero Julian Morales Mara Olivares-Marin Vicente Gomez-serrano Dpto. Ouimica Inorgdnica e Ingenierfa Quimica Instituto de Quimica Fina y Nanoqufmica Universidad de C6rdoba 14071 C6rdoba Spain Dpto. Quimica Inorg6nica Facultad de Ciencias Universidad de Extremadura 06006 Badajoz Spain

A micro- and mesoporous carbon obtained from cherry pit waste and activated with HBPO4 acid has been studied as the sulfur host for Li/S batteries. The carbon has a high specific surface area of 1,662 m2·g-1 （SBET） and micropore and mesopore volumes of 0.57 and 0.40 cm3·g-1, respectively. The S/C composite, with a sulfur content of 57% deposited by the disproportionate reaction of a SaO2- solution in an acid medium without an additional heating step above the S melting point, delivers an initial specific capacity of 1,148 mah·g-1 at a current of C/16. It also has a high capacity retention of 915 mAh·g-1 after 100 cycles and a Coulombic efficiency close to 100%. The good performance of the composite was also observed under higher current rates and long-term cycling tests. The capacities delivered by the cell after 200 cycles were 707 and 410 mAh·g-1 at C/2 and 1C （1C = 1,675 mA·g-1）, respectively, maintaining the high Coulombic efficiency. The overall electrochemical response of this carbon as the sulfur matrix is among the best reported so far among the other biomass-derived carbons, probably because of the micro- and mesopore system formed upon activation.

关键词： activated carbon agricultural waste cherry stone sulfur composite lithium-sulfur batteries

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Reconstruction of lateral root formation through single-cell RNA sequencing reveals order of tissue in itiation

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Molecular Plant 2021年第8期14卷 1362-1378页

作者： Laura serrano-Ron Pablo Perez-Garcia alvaro Sanchez-Corrionero Inmaculada Gude Javier Cabrera Pui-Leng Ip Kenneth D.Birnbaum Miguel A.Moreno-Risueno Centro de Biotecnologia y Genomica de Plantas Universidad Politecnica de Madrid(UPM)-lnstituto Naci on al de Investigacion y Tec no logia Agraria y Alimentaria(INIA)Pozuelo de Alarcon28223 MadridSpain Departamento de Biotecnologia-Biologia Vegetal Escuela Tecnica Superior de Ingenieria AgronomicaAlimentaria y de BiosistemasUniversidad Politecnica de Madrid(UPM)28040 MadridSpain Center for Genomics and Systems Biology Department of BiologyNew York UniversityNew YorkNYUSA

Postembryonic organogenesis is critical for plant ***,lateral roots(LRs)form the bulk of mature root systems,yet the ontogeny of the LR primordium(LRP)is not *** this study,we performed the single-cell RNA sequencing through the first four stages of LR formation in *** analysis led to a model in which a single group of precursor cells,with a cell identity different from their pericycle origins,rapidly reprograms and splits into a mixed ground tissue/stem cell niche fate and a vascular precursor *** ground tissue and stem cell niche fates soon separate and a subset of more specialized vascular cells form sucrose transporting phloem cells that appear to connect to the primary *** did not detect cells resembling epidermis or root cap,suggesting that outer tissues may form later,preceding LR *** this stage,some remaining initial precursor cells form the primordium flanks,while the rest create a reservoir of pluripotent cells that are able to replace the LR if *** ablation of the central and lateral LRP regions showed that remaining cells restart the sequence of tissue initiation to form a ***,our study reveals an ontological hierarchy for LR formation with an early and sequential split of main root tissues and stem cells.

关键词： organogenesis patterning stem cells single-cell RNA-seq cell fate regeneration

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TNFα和IL-6体外对颗粒物的反应：随颗粒物大小、季节、多环芳烃和土壤含量的变化

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环境与职业医学 2016年第12期33卷 1202-1208页

作者： Natalia Manzano-León Jesús serrano-Lomelin Brisa N.Sánchez Raúl Quintana-Belmares Elizabeth Vega Inés Vázquez-López Leonora Rojas-Bracho Maria Tania López-Villegas Felipe Vadillo-Ortega Andrea De Vizcaya-Ruiz Irma Rosas Perez Marie S.O’Neill alvaro R.Osornio-Vargas 季麟(翻译) 金泰廙(审校) Departamento de Investigacion Basica Instituto Nacional de CancerologiaMexicoDFMexico School of Public Health University of AlbertaEdmontonAlbertaCanada Department of Environmental Health Sciences Department of Epidemiology School of Public HealthUniversity of MichiganAnn ArborMichiganUSA Direccion de Investigacion y Posgrado Instituto Mexicano del PetroleoMexicoDFMexico Gerencia de Ciencias Ambientales Instituto Nacional de Investigaciones NuclearesLa MarquesaOcoyoacacEstado de MexieoMexico Instituto Nacional de Ecologta y Cambio Climatico MexicoDFMexico National Autonomous University of Mexico(UNAM)at the National Institute of Genomic Medicine MexicoDFMexico Departamento de Toxicologla CinvestavMexicoDFMexico Centro de Ciencias de la Atmosfera UNAMMexicoDFMexico Department of Paediatrics University of AlbertaEdmontonAlbertaCanada 不详

[背景]颗粒物(PM)与人类健康之间的关联随着季节变化而不同,这种现象可能与颗粒物的成分以及毒性相关的季节性交互作用有关。[目的]检测PM成分的季节性变化,并使用多个PM样本评估PM的体外促炎症可能性。[方法]以5个污染源不同的城市地... 详细信息

[背景]颗粒物(PM)与人类健康之间的关联随着季节变化而不同,这种现象可能与颗粒物的成分以及毒性相关的季节性交互作用有关。[目的]检测PM成分的季节性变化,并使用多个PM样本评估PM的体外促炎症可能性。[方法]以5个污染源不同的城市地区为采集地点,每周采集样本,在多雨温暖季节和干燥寒冷季节累积采集90份PM_(10)和PM_(2.5)样本。对其中检测到的元素、多环芳烃(PAHs)和内毒素进行主成分分析(PCA)。在人单核细胞(THP-1)中检测PM诱导肿瘤坏死因子α(TNFα)和白介素6(IL-6)分泌的可能性,并用组分评分建立促炎症反应的模型。[结果]PM的成分随其大小和季节而变化。PCA确定了PM中两种随季节变化的主要组分。燃烧相关的成分(如钒、苯并(a)芘、苯并(a)蒽)组成组分1(C_1),土壤相关的成分(如内毒素、硅、铝)组成组分2(C_2)。多雨温暖季节采集的PM中C_2含量较高,而干燥寒冷季节采集的PM(尤其是PM_(2.5))中C_1含量较高。细胞因子生成水平与PM_(10)和C_2(多雨温暖季节)正相关,但与PM_(2.5)和C_1(干燥寒冷季节)负相关。C_2含量较高的PM暴露水平越高,TNFα分泌越多;样本含有≥0.1%的C_1相关PAHs时,无论样本中C_2含量高低,暴露于该样本后TNFα对PM的反应性分泌都会降低。IL-6检测结果提示PM成分和颗粒大小之间存在复杂的交互作用。[结论]TNFα分泌具有季节性并与PM大小相关,PM中的土壤含量及PAH含量的变化是其根本原因。这些结果提示,流行病学研究中一些健康结局与PM之间关联的季节性差异能用PM组分的混合物来解释。

关键词：多环芳烃主成分分析内毒素检测采集样流行病学研究细胞因子城市地区肿瘤坏死因子α 变异系数苯并

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