Research Article

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05/25/2017
Adult; Frameshift mutation; Humans; Intellectual disability; male; Methyltransferases

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
07/06/2017
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
08/31/2017
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
09/21/2017
Animals; Chromosomes; Female; Genotype; Hybridization, Genetic; Karyotype; Liver; male; Microsatellite Repeats; Polymorphism, Genetic; Quantitative Trait, Heritable; Transcriptome; Turtles

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

H.Q. Zhang; X.J. Xu; Z.Y. He; J.Z. Shao; X.H. Zhang; Q.H. Meng; F.Y. Huang
09/27/2017
Down syndrome; Heart Defects, Congenital; Humans; Infant; Karyotype; Klinefelter syndrome; male

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

M.A. Rodrigues; L.F. Morgade; L.F.A. Dias; R.V. Moreira; P.D. Maia; A.F.H. Sales; P.D. Ribeiro
09/27/2017
Amaranthaceae; Animals; Antimutagenic Agents; Bone marrow cells; Chromosome aberrations; Cyclophosphamide; Female; Ginkgo biloba; male; Plant Extracts; Plants, Medicinal; Rats; Rats, Wistar

Complementary and alternative therapies, including the use of medicinal plants, have become almost standard among the world's population. Pfaffia glomerata (PG), popularly known as Brazilian ginseng, is widely used as a restorer of vital functions, increasing mental balance, and is used for the treatment of diabetes and rheumatism. Ginkgo biloba (GB) is one of the oldest known gymnosperms, ... more

I.V. Almeida; E. Düsman; G.I. Mattge; F. Toledo; A.F. Reusing; V.E.P. Vicentini
11/21/2016
Apoptosis; bcl-X Protein; Cell Line, Tumor; Cell proliferation; Cell survival; Female; Gene Expression Regulation, Neoplastic; Humans; MicroRNAs; Uterine cervical neoplasms

Cervical cancer is a life-threatening condition. MicroRNAs (miRNAs) can promote or inhibit cell death and proliferation. The present study investigated the effect of miRNA 421 on the growth and apoptosis of cervical cancer cells. miRNA 421 and control miRNA were synthesized and transfected into c-33a cervical cancer cells. A thiazolyl blue tetrazolium bromide assay, caspase-3 activity, and ... more

X.J. Lai; X.Y. Cheng; L.D. Hu
12/02/2016
Adenocarcinoma; Adult; Carcinoma, Squamous Cell; Cell proliferation; Female; Fibroblast growth factor 1; Fibroblast Growth Factor 2; Gene Expression Regulation, Neoplastic; Hela cells; Humans; Middle Aged; Neoplasm Staging; Prognosis; Uterine cervical neoplasms; Young Adult

Fibroblast growth factors (FGFs) play important roles in angiogenesis, wound healing, embryonic development, and endocrine signaling pathways. Increasingly, recent studies have reported aberrant FGF expression in various malignancies. However, the involvement of FGFs in cervical carcinoma pathogenesis remains unclear. We aimed to investigate expression of acidic (aFGF) and basic FGF (bFGF) in ... more

Q.H. Zhang; P. Xu; Y.X. Lu; H.T. Dou
12/19/2016
Animals; Cell Line, Tumor; Cell Movement; Cell proliferation; Endoglin; Female; Gene Expression Regulation, Neoplastic; Humans; Mice; Mice, Nude; MicroRNAs; Neoplasm Invasiveness; Neoplasm Transplantation; Neovascularization, Pathologic; Thyroid Neoplasms

Thyroid cancer is the most common type of endocrine tumor. MicroRNAs (miRNAs) play a critical role in a variety of diseases, especially cancer occurrence and progression. However, the specific mechanism by which miRNAs trigger disease states has not been fully elucidated. This study aims to investigate the role of miR-27a in thyroid cancer cells. A wound healing assay was adopted to examine ... more

Y.L. Wang; W.G. Gong; Q.L. Yuan
1/23/2017
Apoptosis; Cell Line, Tumor; Cell proliferation; Female; Gene Expression Regulation, Neoplastic; Humans; MicroRNAs; Proto-Oncogene Proteins c-bcl-2; RNA interference; Uterine cervical neoplasms

Cervical carcinoma is a life-threatening illness posing considerable danger to women's health. microRNAs (miRNAs) have been shown to regulate multiple cellular events, including growth and proliferation, and miR-187 is thought to regulate the growth and apoptosis of certain cell types. Our study focused on the influence of miR-187 on the growth, proliferation, and apoptosis of SiHa cervical ... more

C.Y. He; J. Yang

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