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The recent advent of exome sequencing has allowed for the identification of pathogenic gene variants responsible for a variety of diseases that were previously clinically diagnosed, with no underlying molecular etiology. Among these conditions, intellectual disability is a prevalent heterogeneous condition, presenting itself in a large spectrum of intensity, in some cases associated with ... more

E. Stur; L.A. Soares; I.D. Louro
Animals; Bayes Theorem; Body weight; Cattle; Female; male; maternal inheritance; Quantitative Trait, Heritable; Selective breeding

This study was carried out to investigate (co)variance components and genetic parameters for growth traits in beef cattle using a multi-trait model by Bayesian methods. Genetic and residual (co)variances and parameters were estimated for weights at standard ages of 120 (W120), 210 (W210), 365 (W365), and 450 days (W450), and for pre- and post-weaning daily weight gain (preWWG and postWWG) in ... more

F.B. Lopes; J.L. Ferreira; R.B. Lobo; G.J.M. Rosa
Alveolar Epithelial Cells; Animals; CD11b Antigen; Female; male; Mice; Mice, Inbred C57BL; Pulmonary Surfactant-Associated Proteins; Respiratory Insufficiency

As a β2 integrin family member, Mac-1 plays an important role in the inflammatory response. Inflammation and lung injury are closely associated, but the involvement of Mac-1 in the occurrence and development of such pathologies remains poorly understood. We aimed to investigate the relationship between Mac-1 deficiency and respiratory failure in Mac-1 knockout {Mac-1} mice, using C57BL/6J mice ... more

J. Wang; Y.B. Ci; C.L. Liu; H.M. Sun
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Chinese soft-shelled turtle Pelodiscus sinensis has been an important aquaculture species in Southeast Asian countries. To breed a new variety of soft-shelled turtle with excellent properties and to evaluate the effect of hybridization of two turtle strains with a highly different trait phenotype, inheritance, microsatellite loci, and transcriptome analysis were studied in the hybrid turtles ... more

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Double aneuploidy is considered a rare phenomenon. Herein, we describe a case of double aneuploidy 48,XXY,+21 in a neonate with congenital heart defects. The 28-day-old neonate male (23-year-old mother and 24-year-old father) was admitted to a neonatal intensive care unit owing to congenital heart disease. Echocardiography showed a complete atrioventricular septal defect with Rastelli type B ... more

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Recent innovations in the genomic understanding of medulloblastomas have provided new ways to explore this highly invasive malignant brain cancer arising from the cerebellum. Among the four different medulloblastoma subgroups described to date, the sonic hedgehog (SHH) genetic pathway is the pathway activated in the tumorigenesis of medulloblastoma. SHH-related medulloblastomas are usually of ... more

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PPARD encodes for peroxisome proliferator-activated receptor delta, which plays a significant role in controlling lipid metabolism, atherosclerosis, inflammation, cancer growth, progression, and apoptosis. Accumulated evidence suggests that the polymorphism rs2016520 in PPARD is associated with lipid metabolism, obesity, metabolic syndrome, and type 2 diabetes mellitus. The aim of this study ... more

M.A. Rosales-Reynoso; L.I. Wence-Chavez; A.R. Arredondo-Valdez; S. Dumois-Petersen; P. Barros-Núñez; M.P. Gallegos-Arreola; S.E. Flores-Martínez; J. Sánchez-Corona
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Barbados cherry (BC) (Malpighia glabra Linnaeus) is a functional fruit that is consumed to prevent disease. It is used as an adjuvant in the treatment of several diseases, and acts as an antianemic, an appetite stimulant, a wound healer, an anti-inflammatory, a mineralizer, an antifungal, and an antioxidant agent. Several chemotherapeutic agents, such as cyclophosphamide, may result in ... more

E. Düsman; I.V. Almeida; L.T.D. Tonin; V.E.P. Vicentini
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The objective of this study was to investigate the effects of blueberry treatment on histone acetylation modification of carbon tetrachloride (CCl)-induced liver disease in rats. Laboratory rats were randomly divided into control, hepatic fibrosis, blueberry treatment, blueberry intervention, and natural recovery groups. Rats in the model groups were treated with CCl administered ... more

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