Research Article

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12/02/2016
Asian People; Child; Chromosome Deletion; Chromosomes, Human, Pair 2; Fingers; Heart Defects, Congenital; Hedgehog Proteins; Humans; Karyotype; male; Syndactyly; Waardenburg Syndrome

Reports of terminal and interstitial deletions of the long arm of chromosome 2 are rare in the literature. Here, we present a case report concerning a Chinese boy with a 47,XYY karyotype and a de novo deletion comprising approximately 5 Mb between 2q35 and q36.1, along with syndactyly, type III Waardenburg syndrome, and congenital heart disease. High-resolution chromosome analysis to detect ... more

D. Wang; G.F. Ren; H.Z. Zhang; C.Y. Yi; Z.J. Peng
12/02/2016
Animal Shells; Animals; Bivalvia; Breeding; Evolution, Molecular; Female; Fresh Water; Genetic variation; Genetics, Population; male; Microsatellite Repeats; Phenotype; Phylogeny; Quantitative trait loci

Four Hyriopsis cumingii populations, a breeding population (BP), a cultured population (FP), two wild populations from Poyang Lake (PY) and Dongting Lake (DT), and an H. schlegelii population were collected (JX), and the first filial generations (F1) were bred synchronously. The shell nacre polymorphisms, population genetic diversity, and genetic structures of the F1 of each population were ... more

L.M. Wu; Z.Y. Bai; X.J. Liu; C. Jin; H. Yin; J.L. Li
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Azoospermia; Chromosome aberrations; Cytogenetic Analysis; Genetic counseling; Heterozygote; Humans; Live Birth; male; Oligospermia

Chromosomal abnormality is the most common genetic cause of infertility. Infertility, as a psychological problem, has received an increasing amount of attention. Psychological interventions have been shown to have beneficial effects on infertile patients with chromosomal abnormalities. The present study explored reproductive outcome of male carriers of chromosomal abnormalities, who accepted ... more

K.M. Guo; B. Wu; H.B. Wang; R.H. Tian
12/02/2016
Animals; Avian Proteins; Body weight; Breeding; Chickens; Female; Gene expression; Gene Expression Regulation; male; Muscle development; Myostatin; Organ Specificity; Phenotype; Quantitative trait loci

Myostatin (MSTN) is expressed in the myotome and developing skeletal muscles, and acts to regulate the number of muscle fibers. Wuding chicken large body, developed muscle, high disease resistance, and tender, delicious meat, and are not selected for fast growth. Broiler chickens (Avian broiler) are selected for fast growth and have a large body size and high muscle mass. Here, 240 one-day-old ... more

L.X. Liu; T.F. Dou; Q.H. Li; H. Rong; H.Q. Tong; Z.Q. Xu; Y. Huang; D.H. Gu; X.B. Chen; C.R. Ge; J.J. Jia
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Animals; Animals, Genetically Modified; Apoptosis Regulatory Proteins; Crosses, Genetic; Drosophila melanogaster; Drosophila Proteins; Gene Expression Regulation, Developmental; Gene Knockdown Techniques; Humans; male; Membrane Proteins; Neurons; Proto-Oncogene Proteins c-bcl-2; Sequence Homology, Amino Acid; Transgenes

Lifeguard is an integral transmembrane protein that modulates FasL-mediated apoptosis by interfering with the activation of caspase 8. It is evolutionarily conserved, with homologues present in plants, nematodes, zebra fish, frog, chicken, mouse, monkey, and human. The Lifeguard homologue in Drosophila, CG3814, contains the Bax inhibitor-1 family motif of unknown function. Downregulation of ... more

P.G. M'Angale; B.E. Staveley
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Brazil; Chromosome Disorders; Chromosome duplication; Chromosomes, Human, Pair 5; Humans; male; Phenotype

Genomic disorders are genetic diseases that are caused by rearrangements of chromosomal material via deletions, duplications, and inversions of unique genomic segments at specific regions. Such rearrangements could result from recurrent non-allelic homologous recombination between low copy repeats. In cases where the breakpoints flank the low copy repeats, deletion of chromosomal segments is ... more

F.G. Reis; I.P. Pinto; L.B. Minasi; A.V. Melo; D.M. da C. Cunha; C.L. Ribeiro; C.C. da Silva; deM. Silva; A.D. da Cruz
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The incidence of liver cancer has gradually risen to a high level in China, and tumor metastasis occurs via multiple pathways. Alpha fetal protein (AFP) is the main biomarker of liver cancer micrometastases. A recent study showed that glypican-3 (GPC3), which is abundant in hepatoma cells, has promising specificity and could be used to determine the presence of malignant cells. The nested ... more

J. Luo; K. Yang; Y.G. Wen
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C-reactive protein; Depressive Disorder; DNA-Binding Proteins; Gene Expression Regulation; Heat Shock Transcription Factors; HSP70 Heat-Shock Proteins; Humans; Interleukins; Ischemic Attack, Transient; male; Middle Aged; NF-kappa B; Stress, Psychological; Transcription factors

The aim of this study was to evaluate dysregulation of gene expression associated with the cellular stress response in a patient with a post-"warning stroke" depressive disorder confirmed by the presence of a neurophysiological neuromarker through the use of quantitative EEG and event-related potentials. The patient was tested for seven genes associated with the stress reaction: HSPA1A, HSPB1 ... more

M. Trystuła; M. Żychowska; M. Wilk-Frańczuk; J.D. Kropotov; M. Pąchalska
2/16/2017
Animals; Brazil; Conservation of Natural Resources; Female; Gene frequency; Genotype; male; Microsatellite Repeats; Sexual Behavior, Animal; Turtles

The aim of the present study was to investigate the reproductive behavior of the giant Amazon River turtle (Podocnemis expansa) in the Amazon. This was carried out by estimating the degree of polymorphism in five DNA microsatellites in a sample of 359 hatchlings from 12 nests in the Mamirauá Sustainable Development Reserve in the municipality of Tefé, state of Amazonas, Brazil. An analysis of ... more

C. Fantin; J. Morais; R. Botero-Arias; C. Araújo; C. Camillo; I.P. Farias
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Agriculture; Animals; Brazil; Breeding; Cattle; Female; Genetic variation; male; Population Density

The Red Sindhi cattle breed was imported to Brazil in small numbers. Nowadays, the herds of this breed are distributed in the Northeast, Southeast and Midwest regions of the country. In this study, DNA samples of animals originating from 15 herds in the Northeast and Southeast regions have been analyzed to obtain the ancestry proportions, and to gain a better understanding of the current ... more

J.C.C. Panetto; M.V.G.B. Silva; R.M.H. Leite; M.A. Machado; F.A.T. Bruneli; D.R.L. Reis; M.G.C.D. Peixoto; R.S. Verneque

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