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The Iberian Roma Population Variant Server(IRPVS)

Journal of Genetics and Genomics 2024年第7期51卷 769-773页

作者： Fabiola Mavillard Javier Perez-Florido Francisco M.Ortuño Amador Valladares Miren L.Álvarez-Villegas Gema Roldán Rosario Carmona Manuel Soriano Santiago Susarte Pilar Fuentes Daniel López-López Ana María Nuñez-Negrillo Alejandra Carvajal Yolanda Morgado Daniel Arteaga Rosa Ufano Pablo Mir Juan F.Gamella Joaquín Dopazo Carmen Paradas Macarena Cabrera-Serrano Instituto de biomedicina de Sevilla(IbiS) Hospital Universitario Virgen del Rocío/CSIC/Universidad de SevillaSevillaSpain Centro Investigación biomédica en Red Enfermedades Neurodegenerativas(CIbERNED) Instituto de Salud CarlosⅢSevillaSpain Plataforma Andaluza de medicina Computacional Fundación Progreso y Salud(FPS)Hospital Virgen del RocíoSevillaSpain Grupo de medicina computacional de sistemas Instituto de Biomedicina de Sevilla(IBiS)Hospital Virgen del RocíoSevillaSpain Nodo de Genómica Funcional (INB-ELIXIR-es)Fundación Progreso y Salud(FPS)Hospital Virgen del RocíoSevilla 41013Spain bioinformática en Enfermedades raras(biER) Centro de Investigación Biomédica en Red de Enfermedades Raras(CIBERER)Instituto de salud CarlosⅢSevillaSpain departamento de Ingeniería de Computadores Automática y RobóticaUniversidad de GranadaGranadaSpain servicio de Urgencias de Atención Primaria Distrito SevillaSevillaSpain Centro de servicios Sociales Negociado de Servicios EspecializadosAyuntamiento de SevillaSevillaSpain departamento de Enfermería Facultad de Ciencias de la SaludUniversidad de GranadaGranadaSpain departamento de Neurología Hospital Virgen de las NievesGranadaSpain departamento de Neurología Hospital Virgen de ValmeSevillaSpain Centro de Salud Utrera Sur SevillaSpain Centro de Salud Polígono Sur SevillaSpain Unidad de Trastornos del Movimiento Servicio de Neurología y Neurofisiología ClínicaHospital Universitario Virgen del RocíoSevillaSpain departamento de medicina Facultad de MedicinaUniversidad de SevillaSevilleSpain departamento de Antropología Social Universidad de GranadaSpain Unidad Enfermedades Neuromusculares Servicio de Neurología y Neurofisiología ClínicaHospital Universitario Virgen del RocíoSevillaSpain

In recent years,the number of known disease genes has exponentially grown due to the widespread adoption of cost-effective massive parallel *** identify new disease variants,especially in monogenic disorders,a frequen... 详细信息

关键词： Server filtering massive

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Targeting epidermal growth factor receptor signaling to facilitate cortical injury repair?

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Neural Regeneration Research 2024年第5期19卷 935-936页

作者： Ricardo Gómez-Oliva Pedro Nunez-Abades Carmen Castro Área de Fisiología Facultad de Medicina Universidad de CádizCadizSpain Instituto de Investigación e Innovación en biomedicina de Cádiz CadizSpain departamento de Fisiología Facultad de FarmaciaUniversidad de SevillaSevilleSpain

The existence of neural stem cells(NSC)in specific areas of the adult mammalian brain leads to the generation of new neurons involved in homeostatic *** is the case of the NSC of the subventricular zone(SVZ)that produces olfactory bulb(Ob)*** neurons integrate into circuits to modulate sensory information and participate in olfactory processing(bragado Alonso et al.,2019).A series of hierarchical events need to take place to produce Ob neurons from NSC of the ***,the activation of quiescent NSC is necessary to produce intermediate transit amplifying progenitors(TAP),which will generate *** latter are cells that maintain a proliferative phenotype while in an immature ***,once they initiate migration toward the Ob,they progressively undergo their differentiation into neurons(Kjell et al.,2020).

关键词： ventricular maintain

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Transcriptomic analysis reveals that NIbAN1 overexpression is associated with bRAF^(V600E)mutation and increases the aggressiveness of thyroid cancer

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Genes & Diseases 2024年第4期11卷 16-19页

作者： Paula Diana Thaise Nayane Ribeiro Carneiro Janete Maria Cerutti Reginaldo Massanobu Kuroshu Gianna Maria Griz Carvalheira Division of Genetics Department of Morphology and GeneticsEscola Paulista de MedicinaUniversidade Federal de Sao PauloSao PauloRua Botucatu740Edificio Leitaoda Cunha1AndarSao PauloSP04023900Brazil Genetic bases of Thyroid Tumors Laboratory Division of GeneticsDepartment of Morphology and GeneticsEscola Paulista de MedicinaUniversidade Federal de Sao PauloPedro de Toledo 66911AndarSao PauloSP 04039-032Brazil Institute of Science and Technology Universidade Federal de Sao PauloAv Cesare Mansueto Giulio Lattes1201Eugenio deMelloSaoJose dos CamposSP12247-014Brazil

NIbAN1 overexpression has been reported in a widerange of thyroid carcinoma subtypes,and in other cancers,while it is not expressed in thyroid benign lesions and normal thy-roid.1-3 However,the mechanism associated with its expression and prognostic value remains *** this study,six independent cohorts were enrolled,in which NIbAN1 expression was evaluated.A total of 583patients with thyroid tumors,326 patients with skin cancers,293 patients with colorectal carcinoma,and 189 patients with lung carcinoma were analyzed.

关键词： bRAF lesions bAN

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brain-derived neurotrophic factor signaling in the neuromuscular junction during developmental axonal competition and synapse elimination

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Neural Regeneration Research 2025年第2期20卷 394-401页

作者： Josep Tomàs Víctor Cilleros-Mañé Laia Just-borràs Marta balanyà-Segura Aleksandra Polishchuk Laura Nadal Marta Tomàs Carolina Silvera-Simón Manel M.Santafé Maria A.Lanuza Unitat d’Histologia i Neurobiologia(UHNeurob) Facultat de Medicina i Ciències de la SalutUniversitat Rovira i VirgiliReusSpain

During the development of the nervous system,there is an overproduction of neurons and *** competition between neighboring nerve endings and synapses performing different activity levels leads to their elimination or *** have extensively studied the involvement of the brain-derived neurotrophic factor-Tropomyosin-related kinase b receptor neurotrophic retrograde pathway,at the neuromuscular junction,in the axonal development and synapse elimination process versus the synapse *** purpose of this review is to describe the neurotrophic influence on developmental synapse elimination,in relation to other molecular pathways that we and others have found to regulate this *** particular,we summarize our published results based on transmitter release analysis and axonal counts to show the different involvement of the presynaptic acetylcholine muscarinic autoreceptors,coupled to downstream serine-threonine protein kinases A and C(PKA and PKC)and voltage-gated calcium channels,at different nerve endings in developmental *** dynamic changes that occur simultaneously in several nerve terminals and synapses converge across a postsynaptic site,influence each other,and require careful studies to individualize the mechanisms of specific *** describe an activity-dependent balance(related to the extent of transmitter release)between the presynaptic muscarinic subtypes and the neurotrophin-mediated Trkb/p75NTR pathways that can influence the timing and fate of the competitive interactions between the different axon *** downstream displacement of the PKA/PKC activity ratio to lower values,both in competing nerve terminals and at postsynaptic sites,plays a relevant role in controlling the elimination of supernumerary ***,calcium entry through L-and P/Q-subtypes of voltage-gated calcium channels(both channels are present,together with the N-type channel in developing nerve terminals)contributes to red

关键词： acetylcholine release adenosine receptors axonal competition brain-derived neurotrophic factor calcium channels motor end-plate muscarinic acetylcholine receptors postnatal synapse elimination serine kinases tropomyosin-related kinase receptorb

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debaryomyces hansenii supplementation in low fish meal diets promotes growth,modulates microbiota and enhances intestinal condition in juvenile marine fish

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Journal of Animal Science and biotechnology 2024年第1期15卷 253-276页

作者： Ignasi Sanahuja Alberto Ruiz Joana P.Firmino Felipe E.Reyes-López Juan b.Ortiz-delgado Eva Vallejos-Vidal Lluis Tort Dariel Tovar-Ramírez Isabel M.Cerezo Miguel A.Moriñigo Carmen Sarasquete Enric Gisbert Aquaculture Program Institute of Agrifood Research and Technology(IRTA)La Rapita 43540Spain Centro de biotecnologia Acuicola Universidad de Santiago de ChileSantiagoChile Instituto de Ciencias Marinas de Andalucia(ICMAN-CSIC) Avda.Republica Saharaui no 2Campus Universitario Rio San PedroPuerto RealCadiz 11510Spain Nucleo de Investigaciones Aplicadas en Ciencias Veterinarias y Agronomicas Facultad de Medicina Veterinaria y AgronomiaUniversidad de Las AmericasSantiagoChile department of Cell biology Physiologyand ImmunologyUniversitat Autonoma de BarcelonaBarcelonaSpain Centro de Investigaciones biologicas del Noroeste SC CIBNORLa PazMexico department of Microbiology Instituto de Biotecnologia Y Desarrollo Azul(IBYDA)Faculty of SciencesUniversity of Malaga29010 MalagaSpain SCbI Bioinformatic UnitUniversity of Malaga29590 MalagaSpain

background The development of a sustainable business model with social acceptance,makes necessary to develop new strategies to guarantee the growth,health,and well-being of farmed *** hansenii is a yeast species that can be used as a probiotic in aquaculture due to its capacity to i)promote cell proliferation and differen-tiation,ii)have immunostimulatory effects,iii)modulate gut microbiota,and/or iv)enhance the digestive *** provide inside into the effects of *** on juveniles of gilthead seabream(Sparus aurata)condition,we inte-grated the evaluation of the main key performance indicators coupled with the integrative analysis of the intestine condition,through histological and microbiota state,and its transcriptomic *** After 70 days of a nutritional trial in which a diet with low levels of fishmeal(7%)was supplemented with 1.1%of ***(17.2×10^(5) CFU),an increase of ca.12%in somatic growth was observed together with an improve-ment in feed conversion in fish fed a yeast-supplemented *** terms of intestinal condition,this probiotic modu-lated gut microbiota without affecting the intestine cell organization,whereas an increase in the staining intensity of mucins rich in carboxylated and weakly sulphated glycoconjugates coupled with changes in the affinity for certain lectins were noted in goblet *** in microbiota were characterized by the reduction in abundance of several groups of Proteobacteria,especially those characterized as opportunistic *** microarrays-based transcrip-tomic analysis found 232 differential expressed genes in the anterior-mid intestine of ***,that were mostly related to metabolic,antioxidant,immune,and symbiotic *** Dietary administration of *** enhanced somatic growth and improved feed efficiency param-eters,results that were coupled to an improvement of intestinal condition as histochemical and transcriptomic tools *** probiotic ye

关键词： debaryomyces hansenii Intestine condition Low fish meal diet Microbiota Transcriptomics Yeast probiotic

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Impacts of PI3K/protein kinase b pathway activation in reactive astrocytes: from detrimental effects to protective functions

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Neural Regeneration Research 2025年第4期20卷 1031-1041页

作者： Ramón Pérez-Núñez María Fernanda González Ana María Avalos Lisette Leyton Cellular Communication Laboratory Programa de Biología Celular y MolecularCenter for Studies on ExerciseMetabolism and Cancer(CEMC)Instituto de Ciencias Biomédicas(ICBM)Facultad de MedicinaUniversidad de ChileSantiagoChile Advanced Center for Chronic Diseases(ACCDiS) Faculty of Chemical and Pharmaceutical Sciences&Faculty of MedicineUniversidad de ChileSantiagoChile Instituto de Ciencias biomédicas Facultad de Ciencias de la SaludUniversidad Autónoma de ChileSantiagoChile

Astrocytes are the most abundant type of glial cell in the central nervous *** injury and inflammation,astrocytes become reactive and undergo morphological and functional *** on their phenotypic classification as A1 or A2,reactive astrocytes contribute to both neurotoxic and neuroprotective responses,***,this binary classification does not fully capture the diversity of astrocyte responses observed across different diseases and *** analysis has revealed that reactive astrocytes have a complex landscape of gene expression profiles,which emphasizes the heterogeneous nature of their *** actively participate in regulating central nervous system inflammation by interacting with microglia and other cell types,releasing cytokines,and influencing the immune *** phosphoinositide 3-kinase(PI3K)/protein kinase b(AKT)signaling pathway is a central player in astrocyte reactivity and impacts various aspects of astrocyte behavior,as evidenced by in silico,in vitro,and in vivo *** astrocytes,inflammatory cues trigger a cascade of molecular events,where nuclear factor-κb serves as a central mediator of the pro-inflammatory ***,we review the heterogeneity of reactive astrocytes and the molecular mechanisms underlying their *** highlight the involvement of various signaling pathways that regulate astrocyte reactivity,including the PI3K/AKT/mammalian target of rapamycin(mTOR),αvβ3 integrin/PI3K/AKT/connexin 43,and Notch/PI3K/AKT *** targeting the inactivation of the PI3K/AKT cellular signaling pathway to control reactive astrocytes and prevent central nervous system damage,evidence suggests that activating this pathway could also yield beneficial *** dual function of the PI3K/AKT pathway underscores its complexity in astrocyte reactivity and brain function *** review emphasizes the importance of employing astrocyte-exclusive models to underst

关键词： inflammation integrins neuroprotective neurotoxic phosphatidylinositol 3-kinase reactive astrocytes signal transduction Thy-1(CD90)

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Damage Mechanism of CK2 and IKAROS in Philadelphia Like Acute Lymphoblastic Leukemia

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Journal of biosciences and Medicines 2024年第4期12卷 49-59页

作者： Ignacio Vélez-Rodríguez Victoria Carranza-Aranda Facultad Mexicana de medicina Universidad La Salle Tlalpan M&#233xico Hospital General de Mé xico Cuauht&#233moc M&#233xico

Acute lymphoblastic leukemia (ALL) is characterized by immature and poorly differentiated b lymphocytes in large numbers in the blood. b cells are distinct from the cell types involved in their development (common lymphoid progenitor cells, pro-b cells, pre-b cells, and mature cells). The process of b cell maturation depends on precise communication within the cell: signals activate specific genes that are essential for proper development. Errors in this intricate signaling network can lead to issues with b cell function and contribute to disease. b-lineage acute lymphoid leukemias, malignancies of precursor-stage b lymphoid cells inhibit lymphoid differentiation, leading to abnormal cell proliferation and survival. The process of developing leukemia (leukemogenesis) can be triggered by an overproduction of both hematopoietic stem cells (the cells that form all blood cells) and the immature versions of white blood cells called lymphoblasts. Acute lymphoblastic leukemia (ALL) with the presence of the Philadelphia chromosome (ALL Ph) is classified as a high-risk manifestation of the disease, this chromosome is the product of the reciprocal translocation, whose product is a bCR-AbL fusion protein. It is a highly active tyrosine kinase that can transform hematopoietic cells into cytokine-independent. Hyperphosphorylation cascades inhibit the differentiating function of IKZF1 as a tumor suppressor gene which leads to an abnormal proliferation of b cells due to the presence of the Philadelphia chromosome;it inhibits the differentiating process, leukemogenesis involving immature b cells in the bloodstream can result from the uncontrolled growth and division of hematopoietic stem cells and immature lymphoblasts (the precursors to b cells).

关键词： Acute Lymphoblastic Leukemia IKAROS dephosphorylation Philadelphia Chromosome CK2

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Amyloid-beta pathology-induced nanoscale synaptic disruption:the case of the GAbA_b-GIRK assembly

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Neural Regeneration Research 2025年第5期20卷 1409-1410页

作者： Rafael Lujan Alejandro Martín-belmonte Sergi Ferré Francisco Ciruela Synaptic Structure Laboratory Instituto de Biomedicina de la UCLM(IB-UCLM)Departamento de Ciencias MédicasInstituto de Investigación en Salud de Castilla-La Mancha(IDISCAM)Facultad de MedicinaUniversidad Castilla-La ManchaCampus BiosanitarioC/AlmansaAlbaceteSpain Integrative Neurobiology Section National Institute on Drug AbuseIntramural Research ProgramNational Institutes of HealthBaltimoreMDUSA Pharmacology Unit Department of Pathology and Experimental TherapeuticsSchool of Medicine and Health SciencesInstitute of NeurosciencesUniversity of BarcelonaNeuropharmacology&Pain GroupNeuroscience ProgramBellvitge Institute for Biomedical ResearchL’Hospitalet de LlobregatSpain

Alzheimer's disease (AD) is characterized by an imbalance between excitatory and inhibitory brain networks,leading to aberrant homeostatic synaptic *** has progressively been recognized as syna ptopathy and syna ptic dysfunction has been identified as a key component of its pathogenesis (Schirinzi et al.,2020).Syna ptic dysfunction is believed to precede synapse loss,a primary biological correlate of cognitive decline in AD,inevita bly associated with neuronal death.

关键词： Alzheimer pathology

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Gut microbiota in preterm infants receiving breast milk or mixed feeding

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World Journal of Clinical Pediatrics 2024年第2期13卷 135-145页

作者： Sandra Gabriela Sánchez-González bárbara Gabriela Cárdenas-del-Castillo Elvira Garza-González Gerardo R Padilla-Rivas Isaías Rodríguez-balderrama Consuelo Treviño-Garza Fernando Félix Montes-Tapia Gerardo C Palacios-Saucedo Anthony Gutiérrez-Rodríguez Manuel Enrique de-la-O-Cavazos department of Pediatrics Hospital Universitario“Dr.JoséEleuterio González”Universidad Autónoma de Nuevo LeónMonterrey 64460Nuevo LeónMéxico departamento de bioquímica y medicina Molecular Universidad Autónoma de Nuevo LeónMonterrey 64460Nuevo LeónMéxico department of biochemistry and Molecular Medicine Universidad Autónoma de Nuevo LeónMonterrey 64460Nuevo LeónMéxico department of Pediatric Surgery Hospital Universitario"Dr.JoséEleuterio González"Monterrey 64460Nuevo LeónMéxico

bACKGROUND Preterm birth is the leading cause of mortality in newborns,with very-low-birthweight infants usually experiencing several *** milk is considered the gold standard of nutrition,especially for preterm infants with delayed gut colonization,because it contains beneficial microorganisms,such as Lactobacilli and *** To analyze the gut microbiota of breastfed preterm infants with a birth weight of 1500 g or *** An observational study was performed on preterm infants with up to 36.6 wk of gestation and a birth weight of 1500 g or less,born at the University Hospital ***éEleuterio González at Monterrey,Mexico.A total of 40 preterm neonates were classified into breast milk feeding(bM)and mixed feeding(MF)groups(21 in the bM group and 19 in the MF group),from October 2017 to June *** samples were collected before they were introduced to any feeding *** full enteral feeding was achieved,the composition of the gut microbiota was analyzed using 16S rRNA gene *** variables were compared using Student’s t-test or using the Mann–Whitney U test for nonparametric ***,evenness,equitability,Margalef’s index,Fisher’s alpha,Chao-1 index,and Shannon’s diversity index were also *** No significant differences were observed at the genus level between the *** comparison indicated higher counts of Alphaproteobacteria and betaproteobacteria in the initial compared to the final sample of the bM group(Pbacteria were detected in the final than in the initial sample(P=0.040).According to the Margalef index,Fisher’s alpha,and Chao-1 index,a decrease in species richness from the initial to the final sample,regardless of the feeding type,was observed(Pbacteroidetes,Actinobacteria,Firmicutes,and Proteobacteria,with Proteobacteria being the most ***,no significant differences were

关键词： Gut microbiota Human milk Preterm infant Proteobacteria Very low birth weight 16S rRNA

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Rifaximin on epigenetics and autophagy in animal model of hepatocellular carcinoma secondary to metabolic-dysfunction associated steatotic liver disease

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World Journal of Hepatology 2024年第1期16卷 75-90页

作者： Matheus Truccolo Michalczuk Larisse Longo Melina belén Keingeski bruno de Souza basso Gabriel Tayguara Silveira Guerreiro Jessica T Ferrari JoséEduardo Vargas Cláudia P Oliveira Carolina Uribe-Cruz Carlos Thadeu Schmidt Cerski Eduardo Filippi-Chiela Mário ReisÁlvares-da-Silva Division of Gastroenterology Hospital de Clínicas de Porto AlegrePorto Alegre 90035-903Rio Grande do SulBrazil Graduate Program in Gastroenterology and Hepatology Universidade Federal do Rio Grande do SulPorto Alegre 90035-003Rio Grande do SulBrazil Experimental Laboratory of Hepatology and Gastroenterology Hospital de Clínicas de Porto AlegrePorto Alegre 90035-903Rio Grande do SulBrazil Laboratory of Inflammatory and Neoplastic Cells Universidade Federal do ParanáParaná81530900Brazil department of Gastroenterology(LIM07) Faculdade de Medicina da Universidade de São PauloSão Paulo 01246903Brazil Facultad de Ciencias de la Salud Universidad Católica de las MisionesPosadasMisiones 3300Argentina Unit of Surgical Pathology Hospital de Clinicas de Porto AlegrePorto Alegre 90035-903Rio Grande do SulBrazil Center of biotechnology Universidade Federal do Rio Grande do SulPorto Alegre 90035-003Rio Grande do SulBrazil department of Morphological Sciences Universidade Federal do Rio Grande do SulPorto Alegre 90.050-170Rio Grande do SulBrazil Conselho Nacional de desenvolvimento Científico e Tecnológico(CNPq) Conselho Nacional de Desenvolvimento Científico e Tecnológico(CNPq)ResearcherBrasília 71.605-001Brazil

bACKGROUND Prevalence of hepatocellular carcinoma(HCC)is increasing,especially in patients with metabolic dysfunctionassociated steatotic liver disease(MASLD).AIM To investigate rifaximin(RIF)effects on epigenetic/autophagy markers in *** Adult Sprague-Dawley rats were randomly assigned(n=8,each)and treated from 5-16 wk:Control[standard diet,water plus gavage with vehicle(Veh)],HCC[high-fat choline deficient diet(HFCD),diethylnitrosamine(deN)in drinking water and Veh gavage],and RIF[HFCD,deN and RIF(50 mg/kg/d)gavage].Gene expression of epigenetic/autophagy markers and circulating miRNAs were *** All HCC and RIF animals developed metabolic-dysfunction associated steatohepatitis fibrosis,and cirrhosis,but three RIF-group did not develop *** animals who developed HCC with those who did not,miR-122,miR-34a,tubulin alpha-1c(Tuba-1c),metalloproteinases-2(Mmp2),and metalloproteinases-9(Mmp9)were significantly higher in the *** opposite occurred with becn1,coactivator associated arginine methyltransferase-1(Carm1),enhancer of zeste homolog-2(Ezh2),autophagy-related factor LC3A/b(Map1 Lc3b),and p62/sequestosome-1(p62/SQSTM1)-*** with controls,Map1 Lc3b,becn1 and Ezh2 were lower in HCC and RIF-groups(Pbserved for p62/Sqstm1(Pba-1c,Aldolase-b,alpha-fetoprotein,and Mmp2(P>0.05).miR-122 was higher in HCC,and miR-34a in RIF compared to controls(Pb was lower in HCC compared to RIF,and the inverse was observed for miR-224(P0.05).CONCLUSION RIF might have a possible beneficial effect on preventing/delaying liver carcinogenesis throu

关键词： Animal model Autophagy Epigenetic Hepatocellular carcinoma Metabolic dysfunction-associated steatotic liver disease Rifaximin

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