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Multi-tissue transcriptomics of a unique monozygotic discordant twin case of severe progressive osseous heteroplasia

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Genes & Diseases 2024年第3期11卷 22-25页

作者： Alberto Gomez-Carballa maria Jose Curras-Tuala Sara Pischedda Miriam Cebey-lopez Jose Gomez-Rial Irene Rivero-Cale Jacobo Pardo-seco Xabier Bello Sandra Viz-Lasheras Antonio Justicia-Grande Julian Montoto-Louzao Alba Camino-Mera Isabel Ferreiros-Vidal Maximo Fraga Jose RAntunez Rodolfo Gomez Federico martinon-Torres Antonio Salas Genetics Vaccines and Infections Research Group(GENVIP)Instituto de Investigacion Sanitaria de SantiagoSantiagode CompostelaGalicia 15706Spain Translational Pediatrics and Infectious Diseases Department of PediatricsHospital Clinico Universitario de Santiago de CompostelaServicio Galego de Saude(SERGAS)Galicia 15706Spain Laboratorio de Inmunologia Servicio de Andlisis ClinicosHospital Clinico Universitario de Santiago de CompostelaServicio Galego de Saude(SERGAS)Galicia 15706Spain Unidade de Xenetica Instituto de Ciencias Forenses(INCIFOR)Facultade de MedicinaUniversidade de Santiago de Compostelaand GenPoB Research GroupInstituto de Investigacion SanitariaHospital Clinico Universitario de Santiago de CompostelaServicio Galego de Saude(SERGAS)Galicia 15706Spain Musculoskeletal Pathology Group Instituto de Investigacion Sanitaria de SantiagoServicio Galego de Saude(SERGAS)Santiago de CompostelaGalicia 15706Spain Department of Pathology Hospital Clinico Universitario de Santiago de Compostela(SERGAS)Galicia 15706Spain Unidad Integrada de BiobancosBiomodelos 3D y Modelos Animales IDIS(lnstituto de Investigacion Sanitaria de Santiagode Compostela)Galicia15706Spain Centro de Investigacion Biomedica en Red de Enfermedades Respiratorias(CIBER-ES) MadridSpain

Progressive osseous heteroplasia(POH)is an ultra-rare autosomal dominant disabling disorder characterized by heterotopic ossification(HO).It is caused by heterozygous inactivating mutations in the GNAS(guanine nucleotide-binding protein alpha-stimulating activity polypeptide)***,the molecular mechanisms underlying HO remain poorly *** a treatment for POH is not yet available,the identification of the mechanisms driving POH in affected tissues using gene expression may be of great help to underestand the molecular basis of POH and develop new therapeutic approaches.

关键词： stimulating driving asi

DNA features beyond the transcription factor binding site specify target recognition by plant MYC2-related bHLH proteins

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Plant Communications 2021年第6期2卷 27-43页

作者： Irene lopez-Vidriero marta Godoy joaquin Grau maria Penuelas Roberto Solano Jose M.Franco-Zorrilla Genomics Unit Centro Nacional de BiotecnologiaCSICC/Darwin 328049 MadridSpain Department of Plant Molecular Genetics Centro Nacional de BiotecnologiaCSICC/Darwin 328049 MadridSpain

Transcription factors(TFs)regulate gene expression by binding to cis-regulatory sequences in the promoters of target *** research is helping to decipher in part the cis-regulatory code in eukaryotes,including plants,but it is not yet fully understood how paralogous TFs select their *** we addressed this question by studying several proteins of the basic helix-loop-helix(bHLH)family of plant TFs,all of which recognize the same DNA *** focused on the MYC-related group of bHLHs,that redundantly regulate the jasmonate(JA)signaling pathway,and we observed a high correspondence between DNA-binding profiles in vitro and MYC function in *** demonstrated that A/T-rich modules flanking the MYC-binding motif,conserved from bryophytes to higher plants,are essential for TF recogni*** observed particular DNA-shape features associated with A/T modules,indicating that the DNA shape may contribute to MYC DNA *** extended this analysis to 20 additional bHLHs and observed correspondence between in vitro binding and protein function,but it could not be attributed to A/T modules as in *** conclude that different bHLHs may have their own codes for DNA binding and specific selection of targets that,at least in the case of MYCs,depend on the TF-DNA interplay.

关键词： transcription factor bHLH target specificity plants

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深海环境海洋生态系统监测与修复新技术

Engineering 2024年第3期34卷 195-211页

作者： Jacopo Aguzzi Laurenz Thomsen Sascha Flögel Nathan J.Robinson Giacomo Picardi Damianos Chatzievangelou Nixon Bahamon Sergio Stefanni Jordi Grinyó Emanuela Fanelli Cinzia Corinaldesi joaquin Del Rio Fernandez marcello Calisti Furu Mienis Elias Chatzidouros Corrado Costa Simona Violino Michael Tangherlini Roberto Danovaro Instituto de Ciencias del mar(ICM-CSIC) Barcelona 08003Spain Stazione Zoologica Anton Dohrn Naples 80121Italy University of Gothenburg Göteborg 40530Sweden GEOmar Helmholtz Centre for Ocean Research Kiel 24148Germany Fundación Oceanogràfic de la Comunitat Valenciana Valencia 46013Spain Royal Netherlands Institute for Sea Research(NIOZ) Den Burg Texel 1790 ABNetherlands Polytechnic University of marche(UNIVPM) Ancona 60131Italy SARTI-mar of the Universitat Politecnica de Catalunya(UPC) Vilanova i la Geltrú08800Spain Lincoln Institute for Agri-food Technology University of LincolnLincoln LN22LGUK Engitec Systems International Limited Limassol 3083Cyprus Consiglio per la Ricerca in Agricoltura e L’analisi Dell’economia Agraria(CREA) Centro di Ricerca Ingegneria e Trasformazioni AgroalimentariMonterotondo 00015Italy

The United Nations(UN)’s call for a decade of“ecosystem restoration”was prompted by the need to address the extensive impact of anthropogenic activities on natural *** ecosystem restoration is increasingly necessary due to increasing habitat degredation in deep waters(>200 m depth).At these depths,which are far beyond those accessible by divers,only established and emerging robotic platforms such as remotely operated vehicles(ROVs),autonomous underwater vehicles(AUVs),landers,and crawlers can operate through manipulators and multiparametric sensor arrays(e.g.,optoacoustic imaging,omics,and environmental probes).The use of advanced technologies for deep-sea ecosystem restoration can provide:①high-resolution three-dimensional(3D)imaging and acoustic mapping of substrates and key taxa,②physical manipulation of substrates and key taxa,③real-time supervision of remote operations and long-term ecological monitoring,and④the potential to work ***,we describe how robotic platforms with in situ manipulation capabilities and payloads of innovative sensors could autonomously conduct active restoration and monitoring across large spatial *** expect that these devices will be particularly useful in deep-sea habitats,such as①reef-building cold-water corals,②soft-bottom bamboo corals,and③soft-bottom fishery resources that have already been damaged by offshore industries(i.e.,fishing and oil/gas).

关键词： Ecosystem restoration Robotic manipulation Acoustic tracking Fishery resources Artificial reefs

Determination of L-norvaline and L-tryptophan in dietary supplements by nano-LC using an O-[2-(methacryloyloxy)-ethylcarbamoyl]-10,11- dihydroquinidine-silica hybrid monolithic column

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Journal of Pharmaceutical Analysis 2020年第1期10卷 70-77页

作者： Dongsheng Xu Elena Sanchez-lopez Qiqin Wang Zhengjin Jiang maría Luisa marina Departamento de Química Analítica Química Física e Ingeniería QuímicaUniversidad de AlcalaCtra.Madrid-Barcelona Km.33.60028871Alcala de Henares(Madrid)Spain Institute of Pharmaceutical Analysis College of PharmacyJinan UniversityGuangzhou510632China Department of Pharmacy and Guangdong Province Key Laboratory of Pharmacodynamic Constituents of Traditional Chinese Medicine&New Drug Research Jinan UniversityGuangzhou510632China Instituto de Investigacion Química“Andres M.del Río”(IQAR) Universidad de AlcalaCtra.Madrid-Barcelona Km.33.60028871Alcala de Henares(Madrid)Spain

An analytical methodology based on an O-[2-(methacryloyloxy)-ethylcarbamoyl]-10,11-dihydroquinidine(MQD)-silica hybrid monolithic column was developed for the enantioseparation of 9-fluorenylmethoxycarbonyl(FMOC)derivatized amino acids by nano-liquid *** mobile phase was optimized including the apparent pH,content of ACN,and concentration of the buffer to obtain a satisfactory enantioresolution performance.27 FMOC derivatized amino acids including 19 protein and 8 non-protein amino acids were tested,and 19 out of them were enantiomerically discriminated obtaining baseline separation for 11 of *** characteristics of the method were evaluated for norvaline and tryptophan in terms of linearity,precision,accuracy,limits of detection(LOD)and quantitation(LOQ)showing good performance to be applied to the enantiomeric determination of these amino acids in dietary *** and LOQ values were 9.3 and 31 mM for norvaline enantiomers and 7.5 and 25 mM for tryptophan enantiomers,*** contents of D-norvaline and D-tryptophan were below their respective LODs in all the analyzed *** of L-tryptophan and L-norvaline showed good agreement with the labeled contents except for one sample which did not show presence of L-norvaline,contrary to the label indication.

关键词： 9-Fluorenylmethoxycarbonyl Amino acids Chiral separation Nano-LC Quinidine-silica hybrid monolithic column

Submicroscopic 11p13 deletion including the elongator acetyltransferase complex subunit 4 gene in a girl with language failure, intellectual disability and congenital malformations: A case report

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World Journal of Clinical Cases 2020年第21期8卷 5296-5303页

作者： Jaime Toral-lopez Luz maría González Huerta Olga Messina-Baas Sergio A Cuevas-Covarrubias Departamento de Genética Medica Centro Medico EcatepecISSEMYMEcatepec 55000México Programa de Maestría y Doctorado en Ciencias Médicas Odontológicas y de la Salud/Hospital Infantil de MéxicoUniversidad Nacional Autónoma de MéxicoMéxico 06720México Departamento de Biología Molecular Hospital General de MéxicoCuauhtémoc 06720México Departamento de Oftalmología Hospital General de MéxicoCuauhtémoc 06720México Genetica Hospital General de MéxicoCuauhtémoc 06726Mexico Sergio A Cuevas-CovarrubiasPrograma de Maestría y Doctorado en Ciencias MédicasOdontológicas y de la SaludUniversidad Nacional Autónoma de MéxicoMéxico 06720Mexico

BACKGROUND We described the main features of an infant diagnosed with facial dysmorphic,language failure,intellectual disability and congenital malformations to strengthen our understanding of the ***,treatment is only rehabilitation and surgery for cleft lip and *** SUMmarY The proband was a 2-years-8-months-old *** history was negative for congenital malformations or intellectual *** patient had microcephaly,upward-slanting palpebral fissures,depressed nasal bridge,bulbous nose and bilateral cleft lip and *** magnetic resonance imaging showed cortical atrophy and band *** motor and intellectual development is delayed.A submicroscopic deletion in 11p13 involving the elongator acetyltransferase complex subunit 4 gene(ELP4)and a loss of heterozygosity in Xq25-q26.3 were *** There is no treatment for the ELP4 deletion caused by a submicroscopic 11p3 *** describe a second case of deletion of the ELP4 gene without aniridia,which confirms the association between ELP4 gene with several defects and absence of this ocular *** clinical data in the deletion of the ELP4 gene as cleft palate,facial dysmorphism,and changes at level brain could be associated to this gene or be part of the effect of the recessives genes involved in the loss of heterozygosity region of Xq25-26.3.

关键词： Submicroscopic 11p13 deletion Elongator acetyltransferase complex subunit 4 gene Language failure Intellectual disability Congenital malformations Case report

Oxidative stress,the blood-brain barrier and neurodegenerative diseases:The critical beneficial role of dietary antioxidants

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Acta Pharmaceutica Sinica B 2023年第10期13卷 3988-4024页

作者： Jin Feng Youle Zheng Mingyue Guo Irma Ares marta martínez Bernardo lopez-Torres maría-Rosa martínez-Larran aga Xu Wang Arturo Anadon maría-Aranzazu martínez National Reference Laboratory of Veterinary Drug Residues(HZAU)and MAO Key Laboratory for Detection of Veterinary Drug Residues Huazhong Agricultural UniversityWuhan 430070China MAO Laboratory for Risk Assessment of Quality and Safety of Livestock and Poultry Products Huazhong Agricultural UniversityWuhan 430070China Department of Pharmacology and Toxicology Faculty of Veterinary MedicineUniversidad Complutense de Madrid(UCM)And Research Institute Hospital 12 de Octubre(i+12)Madrid 28040Spain

In recent years,growing awareness of the role of oxidative stress in brain health has prompted antioxidants,especially dietary antioxidants,to receive growing attention as possible treatments strategies for patients with neurodegenerative diseases(NDs).The most widely studied dietary antioxidants include active substances such as vitamins,carotenoids,flavonoids and *** antioxidants are found in usually consumed foods such as fresh fruits,vegetables,nuts and oils and are gaining popularity due to recently growing awareness of their potential for preventive and protective agents against NDs,as well as their abundant natural sources,generally non-toxic nature,and ease of long-term *** review article examines the role of oxidative stress in the development of NDs,explores the‘two-sidedness’of the blood-brain barrier(BBB)as a protective barrier to the nervous system and an impeding barrier to the use of antioxidants as drug medicinal products and/or dietary antioxidants supplements for prevention and therapy and reviews the BBB permeability of common dietary antioxidant suplements and their potential efficacy in the prevention and treatment of ***,current challenges and future directions for the prevention and treatment of NDs using dietary antioxidants are discussed,and useful information on the prevention and treatment of NDs is provided.

关键词： Dietary antioxidant supplements Oxidative stress Blood-brain barrier Neurodegenerative diseases Vitamins Carotenoids Flavonoids Polyphenols

Liver steatosis in patients with rheumatoid arthritis treated with methotrexate is associated with body mass index

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World Journal of Hepatology 2023年第5期15卷 699-706页

作者： Agustin Castiella Luis lopez-Dominguez maria J Sanchez-Iturri Iratxe Urreta Andrea De Diego joaquin Belzunegui Eva Zapata Department of Gastroenterology Service Donostia University HospitalDonostia 20014Spain Department of Rheumatology Donostia University HospitalDonostia 20014Spain Department of Gastroenterology Donostia University HospitalDonostia 20014Spain Department of Clinical Epidemiology Donostia University HospitalDonostia 20014Spain

BACKGROUND Methotrexate(MTX)is the usual first-line treatment for rheumatoid arthritis(RA).Long-term use of MTX has been associated with liver steatosis(LS)and liver fibrosis(LF).AIM To determine if LS in patients treated with MTX for RA is associated with MTX cumulative dose(MTX-CD),metabolic syndrome(Mt S),body mass index(BMI),the male sex,or *** A single-center,prospective study of patients receiving MTX for RA was performed from February 2019 to February *** inclusion criteria were patients aged 18 years or older diagnosed with RA by a rheumatologist and being treated with MTX(without limitation on the duration of treatment).The exclusion criteria were previous diagnosis of liver disease(hepatitis B or C virus infection,known nonalcoholic fatty liver disease),alcohol consumption greater than 60 g/d in males or 40 g/d in females,human immunodeficiency virus infection on antiretroviral therapy,diabetes mellitus,chronic renal failure,congestive heart failure,or BMI greater than 30 kg/m^(2).Patients receiving leflunomide in the 3 years prior to the study were also *** elastography(Fibro Scan,Echosens?,Paris,France)was used for fibrosis determination(LF>7 Kp A)and computer attenuation parameter(CAP)for LS(CAP>248 d B/m).Demographic variables,laboratory data,MTX-CD(>4000 mg),Mt S criteria,BMI(>25),transient elastography,and CAP scores were collected from all *** Fifty-nine patients were ***-three were female(72.88%),and the mean age was 61.52 years(standard deviation:11.73).When we compared MTX-CD≤4000 mg(26 patients;14 with LS and 12 without)with>4000 mg(33 patients;12 with LS and 21 without),no statistical differences were found(P=0.179).We compared CAP scores stratified by Mt S,BMI,sex,and *** were no significant differences in CAP scores based on the presence of Mt S[CAP/Mt S:50 no Mt S(84.75%);9 Mt S(15.25%);P=0.138],the male sex(CAP/sex:8 male/18 female LS;8 male/25 female no LS;P=0.576),or LF[CAP/fibrosis:

关键词： patients diagnosis index

Celeboxib-mediated neuroprotection in focal cerebral ischemia: an interplay between unfolded protein response and inflammation

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Neural Regeneration Research 2022年第2期17卷 302-303页

作者： maria Santos-Galdiano Diego Perez-Rodriguez Arsenio Fernandez-lopez Area de Biologia Celular Instituto de BiomedicinaCampus de Vegazana s/nUniversidad de LeonLeonSpain Neural Therapies SL Campus de Vegazana s/nLeónSpain Department of Clinical and Movement Neurosciences UCL Queen Square Institute of NeurologyLondonUK

Ischemic stroke results from the temporary or permanent lack of blood supply in the brain due to the occlusion of a brain blood vessel. Around 85% of patients with cerebrovascular accidents suffer from ischemic strokes.

关键词： inflammation cerebral ischemia

Drug repurposing for COVID-19 using machine learning and mechanistic models of signal transduction circuits related to SARS-CoV-2 infection

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Signal Transduction and Targeted Therapy 2021年第1期6卷 11-13页

作者： Carlos Loucera marina Esteban-Medina Kinza Rian Matias MFalco joaquin Dopazo maria Pena-Chilet Clinical Bioinformatics Area.Fundacion Progreso y Salud(FPS).CDCA Hospital Virgen del Rocio41013 SevillaSpain Computational Systems Medicine Institute of Biomedicine of Seville(IBIS)Hospital Virgen del Rocio41013 SevillaSpain Bioinformatics in Rare Diseases(BiER).Centro de Investigacion Biomedica en Red de Enfermedades Raras(CIBERER) FPSHospital Virgen del Rocio41013 SevillaSpain FPS/ELIXIR-es Hospital Virgen del RocioSevilla 42013Spain

Dear Editor,Drug repurposing is a convenient alternative when the need for new drugs in an unexpected medical scenario is urgent,as is the case of emerging *** recent years,approaches based on network biology have demonstrated to be superior to genecentric ones.1 Here,we use an innovative methodology that combines mechanistic modeling of the signal transduction circuits related to SARS-CoV-2 infection(the COVID-19 disease map)with a machine-learning algorithm that learns potential causal interactions between proteins,already targets of drugs,and specific signaling circuits in the COVID-19 disease map,to suggest potentially repurposable drugs.

关键词： signal network drugs