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Ramos-Morales Francisco F Departamento de Genética, Facultad de Biología, Universidad de Sevilla, Avda Reina Mercedes, 6, 41012, Sevilla, Spain, - - 2015
CyaA from Bordetella pertussis is a calmodulin-dependent adenylate cyclase. Fusions to the catalytic domain of CyaA (CyaA') are useful tools to detect translocation of type III secretion system effectors from gram-negative pathogens like Salmonella enterica. These fusions are usually generated using plasmids with strong promoters. Here, we describe a protocol ...
Antonacci Francesca F Dipartimento di Biologia, Università degli Studi di Bari Aldo Moro, Bari, - - 2014
Recurrent deletions of chromosome 15q13.3 associate with intellectual disability, schizophrenia, autism and epilepsy. To gain insight into the instability of this region, we sequenced it in affected individuals, normal individuals and nonhuman primates. We discovered five structural configurations of the human chromosome 15q13.3 region ranging in size from 2 to ...
Backlund Mikael P MP Department of Chemistry, Stanford University, 375 North-South Axis, Stanford, California, 94305, - - 2014
Single-particle tracking has been applied to study chromatin motion in live cells, revealing a wealth of dynamical behavior of the genomic material once thought to be relatively static throughout most of the cell cycle. Here, we used the dual-color 3D Double-Helix Point Spread Function (DH-PSF) microscope to study the correlations ...
Hwang Vicki J - - 2014
BackgroundChromosome 22q11.2 deletion syndrome (22q11DS) is the most common human microdeletion syndrome and is associated with many cognitive, neurological and psychiatric disorders. The majority of individuals have a 3 Mb deletion while others have a nested 1.5 Mb deletion, but rare atypical deletions have also been described. To date, a study using ...
Napier C C Institute of Genetic Medicine (C.N., A.L.M., E.G., I.W., S.H.S.P.), Newcastle University, Newcastle upon Tyne NE1 4EP, United Kingdom; and Endocrine Department (C.N., A.L.M., S.H.S.P.), Newcastle upon Tyne Hospitals, Newcastle upon Tyne NE7 7DN, United - - 2014
Autoimmune endocrinopathies demonstrate a profound gender bias, but the reasons for this remain obscure. The 1000 genes on the X chromosome are likely to be implicated in this inherent susceptibility; various theories, including skewed X chromosome inactivation and fetal microchimerism, have been proposed. GPR174 is an Xq21 putative purinergic receptor ...
Touchon Marie M Microbial Evolutionary Genomics, Institut Pasteur, 75724 Paris, France; CNRS, UMR3525, 75724 Paris, - - 2014
Prokaryotes are constantly being infected by large mobile genetic elements (MGEs) such as conjugative elements and temperate phages. The fitness of these elements is tightly linked with the evolutionary success of the host. This leads to selection against disruptive effects their integration might have on the organization and structure of ...
Smith Amena W AW Department of Neurosciences (Neurology), Medical University of South Carolina, Charleston, SC, - - 2014
A 10-year-old boy presented with a history of significant delay in language acquisition as well as receptive and expressive language impairment that persisted into elementary school. In school, he exhibited difficulty with reading comprehension, telling and understanding narratives, and making inferences. Other aspects of his neurodevelopment were normal, with no ...
Zheng Minghuan M Biomedical Research Center, Minhang Hospital & Zhongshan Hospital, Fudan University Center for Clinical Bioinformatics, Shanghai, - - 2014
Telocytes (TCs) were identified as a distinct cellular type of the interstitial tissue and defined as cells with extremely long telopodes (Tps). Our previous data demonstrated patterns of mouse TC-specific gene profiles on chromosome 1. The present study focuses on the identification of characters and patterns of TC-specific or TC-dominated ...
Arora K K National Research Centre on Plant Biotechnology, Lal Bahadur Shastri Centre, Pusa Campus, New Delhi, 110 012, - - 2014
This is a novel report in which chromosomal position of the rice blast resistance gene Pi54 was not found to affect significantly the resistance phenotype or morphological traits. Blast disease caused by Magnaporthe oryzae is a serious constraint in rice production at global level. Pi54 gene imparts resistance against M. ...
Peltekova Iskra T IT Department of Developmental Pediatrics, Montréal Children's Hospital, Montreal, - - 2014
Chromosome 10q deletions are rare and phenotypically diverse. Such deletions differ in length and occur in numerous regions on the long arm of chromosome 10, accounting for the wide clinical variability. Commonly reported findings include dysmorphic facial features, microcephaly, developmental delay, and genitourinary abnormalities. Here, we report on a female ...
Prontera Paolo P Centro di Riferimento Regionale di Genetica Medica, Azienda Ospedaliera-Universitaria di Perugia, Perugia, - - 2014
The most frequent causes of Intellectual Disability (ID)/Autism Spectrum Disorders (ASDs) are chromosomal abnormalities, genomic rearrangements and submicroscopic deletions coupled with duplications. We report here on an 11-year-old girl showing autism, macrocephaly, and facial dysmorphism, in which array-CGH showed a de novo microdeletion of ∼114 Kb in the 14q11.2 chromosomal region, ...
Malli Theodora T Laboratory for Molecular Biology and Tumor Cytogenetics, Department of Internal Medicine I, Hospital Barmherzige Schwestern Linz, Upper Austria, - - 2014
Here, we report on a male patient with developmental delay, speech impairment, mild dysmorphic features, and borderline intellectual disability, bearing a de novo balanced t(5;6)(q11;q25.3). By combining FISH and long distance inverse PCR, we identified two genes, ADAMTS6 and ARID1B, which were disrupted at the translocation breakpoints. Due to the ...
Mell Blair B Department of Physiology and Pharmacology, Center for Hypertension and Personalized Medicine, Program in Physiological Genomics, University of Toledo College of Medicine and Life Sciences, Toledo, OH, - - 2014
Genetic dissection of blood pressure (BP) quantitative trait loci (QTLs) in rats has facilitated the fine-mapping of regions linked to the inheritance of hypertension. The goal of the current study was to further fine-map one such genomic region on rat chromosome 1 (BPQTL1b1), the homologous region of which on human ...
Eshleman Heather D - - 2014
Sister-chromatid bi-orientation on the mitotic spindle is essential for proper chromosome segregation. Defects in bi-orientation are sensed and corrected to prevent chromosome mis-segregation and aneuploidy. This response depends on the adaptor protein Sgo1, which associates with pericentromeric chromatin in mitosis. The mechanisms underlying Sgo1 function and regulation are unclear. Here, ...
Liu Wing-Yee WY Department of Plant Science, Plant Genomics and Breeding Institute and Research Institute for Agriculture and Life Sciences, Seoul National University, 1 Gwanak-ro Gwank-gu, 151-921, Seoul, Republic of - - 2014
Bulked segregant analysis (BSA) using Affymetrix GeneChips revealed candidate genes underlying the major QTL for Phytophthora capsici resistance in Capsicum . Using the candidate genes, reliable markers for Phytophthora resistance were developed and validated. Phytophthora capsici L. is one of the most destructive pathogens of pepper (Capsicum spp.). Resistance of ...
Carbone Lucia L 1] Oregon Health &Science University, Department of Behavioral Neuroscience, 3181 SW Sam Jackson Park Road Portland, Oregon 97239, USA. [2] Oregon National Primate Research Center, Division of Neuroscience, 505 NW 185th Avenue, Beaverton, Oregon 97006, USA. [3] Oregon Health &Science University, Department of Molecular &Medical Genetics, 3181 SW Sam Jackson Park Road, Portland, Oregon 97239, USA. [4] Oregon Health &Science University, Bioinformatics and Computational Biology Division, Department of Medical Informatics &Clinical Epidemiology, 3181 SW Sam Jackson Park Road, Portland, Oregon 97239, - - 2014
Gibbons are small arboreal apes that display an accelerated rate of evolutionary chromosomal rearrangement and occupy a key node in the primate phylogeny between Old World monkeys and great apes. Here we present the assembly and analysis of a northern white-cheeked gibbon (Nomascus leucogenys) genome. We describe the propensity for ...
Chapman Andrew G - - 2014
BackgroundX-chromosome inactivation silences one X chromosome in females to achieve dosage compensation with the single X chromosome in males. While most genes are silenced on the inactive X chromosome, the gene for the long non-coding RNA XIST is silenced on the active X chromosome and expressed from the inactive X ...
Zhou Huanbin H Department of Genetics, Development and Cell Biology, Iowa State University, Ames, IA 50011, - - 2014
The Cas9/sgRNA of the CRISPR/Cas system has emerged as a robust technology for targeted gene editing in various organisms, including plants, where Cas9/sgRNA-mediated small deletions/insertions at single cleavage sites have been reported in transient and stable transformations, although genetic transmission of edits has been reported only in Arabidopsis and rice. ...
Aubry Marie-Christine MC Departments of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, - - 2014
The TP63 gene encodes a member of the p53 family of transcription factors. Although TP53 is a well-known tumor suppressor gene, the role of p63 in tumorigenesis is controversial. Our group recently identified novel chromosomal rearrangements involving TP63 in approximately 6% of peripheral T-cell lymphomas, which correlated with a p63+/p40- ...
Ozer Ozge O Ba┼čkent University Faculty of Medicine, Department of Hematology, Ankara, Turkey. E-ma-il: - - 2014
We describe a case of blastoid mantle cell lymphoma with a complex karyotype. The blastoid variant is a rare type of non-Hodgkin lymphoma exhibiting an aggressive clinical course. Mantle cell lymphoma is a distinct entity of mature B-cell neoplasms genetically characterized by the presence of t(11;14). In the present case, ...
Khazaei Hamid H Department of Agricultural Sciences, University of Helsinki, P O Box 27 (Latokartanonkaari 5), 00014, Helsinki, Finland, - - 2014
We have identified QTLs for stomatal characteristics on chromosome II of faba bean by applying SNPs derived from M. truncatula , and have identified candidate genes within these QTLs using synteny between the two species. Faba bean (Vicia faba L.) is a valuable food and feed crop worldwide, but drought ...
Picq Sandrine - - 2014
BackgroundIn Vitis vinifera L., domestication induced a dramatic change in flower morphology: the wild sylvestris subspecies is dioecious while hermaphroditism is largely predominant in the domesticated subsp. V. v. vinifera. The characterisation of polymorphisms in genes underlying the sex-determining chromosomal region may help clarify the history of domestication in grapevine ...
Polishchuk L A LA Institute of Molecular Biology and Genetics, NAS of Ukraine, Kyiv 03143, - - 2014
Philadelphia chromosome is a result of chromosomal rearrangement that leads to the appearing of the hybrid gene bcr/abl. A hybrid mRNA transcribes from bcr-promoter and many copies of hybrid molecules of Bcr/Abl protein are formed as a result of bcr/abl gene expression. It is supposed that a hybrid Abl molecule, ...
Shpylchyn V V - - 2014
Changes in plant genomes of hybrid origin which become apparent on different levels of phenotypic manifestation of genetic and epigenetic changes are an important object of cytogenetics and molecular genetics. The changes in expression of the glaucousness trait in the artificial Triticinae amphidiploid Aurotica (AABBTT) were investigated; haplotypes of plants ...
Yan Bao B National Key Laboratory of Crop Genetic Improvement, National Center of Plant Gene Research (Wuhan) and National Center of Crop Molecular Breeding, Huazhong Agricultural University , Wuhan 430070 , - - 2014
Rice grain shape and yield are usually controlled by multiple quantitative trait loci (QTL). This study used a set of F9-10 recombinant inbred lines (RILs) derived from a cross of Huahui 3 (Bt/Xa21) and Zhongguoxiangdao, and detected 27 QTLs on ten rice chromosomes. Among them, twelve QTLs responsive for grain ...
Hysi Pirro G PG 1] Department of Twin Research and Genetic Epidemiology, King's College London, London, UK. - - 2014
Elevated intraocular pressure (IOP) is an important risk factor in developing glaucoma, and variability in IOP might herald glaucomatous development or progression. We report the results of a genome-wide association study meta-analysis of 18 population cohorts from the International Glaucoma Genetics Consortium (IGGC), comprising 35,296 multi-ancestry participants for IOP. We ...
Rovatsos Michail M Charles University in - - 2014
The green anole, Anolis carolinensis (ACA), is the model reptile for a vast array of biological disciplines. It was the first non-avian reptile to have its genome fully sequenced. During the genome project, the XX/XY system of sex chromosomes homologous to chicken chromosome 15 (GGA15) was revealed and 106 X-linked ...
Talarico G G a Memory Clinic, Department of Neurology and Psychiatry , University "Sapienza" , Rome , - - 2014
An expanded hexanucleotide (GGGGCC) repeat in a non-coding promoter region of open reading frame 72 of chromosome 9 (C9ORF72) has been recently identified as a major cause of familial and sporadic frontotemporal lobar degeneration. We describe the clinical picture of a 64-year-old woman carrying the hexanucleotide repeat expansion, who developed ...
van Arensbergen Joris J Division of Gene Regulation, Netherlands Cancer Institute, 1066 CX Amsterdam, The - - 2014
Although it was originally believed that enhancers activate only the nearest promoter, recent global analyses enabled by high-throughput technology suggest that the network of enhancer-promoter interactions is far more complex. The mechanisms that determine the specificity of enhancer-promoter interactions are still poorly understood, but they are thought to include biochemical ...
Du Meijun M Department of Pathology and Cancer Center, Medical College of Wisconsin, Milwaukee, WI - - 2014
Chromosome 8q24 locus contains regulatory variants that modulate genetic risk to various cancers including prostate cancer (PC). However, the biological mechanism underlying this regulation is not well understood. Here, we developed a chromosome conformation capture (3C)-based multiple target sequencing (3C-MTS) technology and systematically examined three PC risk regions at the ...
Liang Huizhen H Henan Sesame Research Center, Henan Academy of Agricultural Sciences, Zhengzhou, 450002, People's Republic of China, - - 2014
This study provides a foundation for further research on root genetic regulation and molecular breeding with emphasis on correlations among root traits to ensure robust root growth and well-developed root systems. A set of 447 recombinant inbred lines (RILs) derived from a cross between Jingdou23 (cultivar, female parent) and ZDD2315 ...
Humphryes Neil N Department of Biology, New York University, New York, - - 2014
Meiotic recombination has two key functions: the faithful assortment of chromosomes into gametes and the creation of genetic diversity. Both processes require that meiotic recombination occurs between homologous chromosomes, rather than sister chromatids. Accordingly, a host of regulatory factors are activated during meiosis to distinguish sisters from homologues, suppress recombination ...
Prisco Sasha Z SZ Human and Molecular Genetics Center, Medical College of Wisconsin, Milwaukee, Wisconsin; Department of Physiology, Medical College of Wisconsin, Milwaukee, - - 2014
We previously isolated a 6.1-Mb region of SS/Mcwi (Dahl salt-sensitive) rat chromosome 12 (13.4-19.5 Mb) that significantly elevated blood pressure (BP) (Δ+34 mmHg, P < 0.001) compared with the SS-12(BN) consomic control. In the present study, we examined the role of vascular dysfunction and remodeling in hypertension risk associated with ...
Tanaka Satomi S SS Department of Kidney Development, Institute of Molecular Embryology and Genetics, Kumamoto University, 2-2-1 Honjo, Kumamoto, 860-0811, Japan, - - 2014
Sex determination is essential for the sexual reproduction to generate the next generation by the formation of functional male or female gametes. In mammals, primary sex determination is commenced by the presence or absence of the Y chromosome, which controls the fate of the gonadal primordium. The somatic precursor of ...
Vinatier Isabelle I Laboratoire CERBA, 95066 Cergy-Pontoise cedex 9, - - 2014
We report, in a 78-year old man constitutionally heterozygous for the sickle cell trait, a late onset sickle cell disease (SCD) caused by a mosaic segmental uniparental isodisomy of chromosome 11p15. The mosaic loss of heterozygosity (LOH) of the HBB gene was suggested in front of an unusually weak β(A) ...
Huang Hsien-Neng HN Graduate Institute of Pathology, College of Medicine, National Taiwan University, Taipei, Taiwan, 10002; Department of Pathology, National Taiwan University Hospital Hsin-Chu Branch, Hsinchu, Taiwan, - - 2014
This study aims to evaluate the relationships between chromosome 20q13.2 zinc finger protein 217 (ZNF217) locus amplification, ZNF217 expression, E-cadherin expression, and PI3K-Akt pathway alterations (activating PIK3CA mutations or loss of phosphatase and tensin homolog [PTEN] expression), and whether these molecular alterations can predict the clinical survival data in ovarian ...
Laczmanska Izabela I Genetics Department, Wroclaw Medical University, Wroclaw, Poland. Electronic address: - - 2014
Protein tyrosine phosphatases that act in different cellular pathways are described most commonly as tumor suppressors, but also as oncogenes. Their role has previously been described in colorectal cancer, as well as in gastric, breast, thyroid, prostate, ovarian, pancreatic, glioma, liver, leukemia and many other cancers. In a previous study, ...
Kol-Maimon Hofit H Department of Entomology, The Volcani Center, ARO, 50250, Bet Dagan, - - 2014
Mealybugs have a haplodiploid reproduction system, with paternal genome elimination (PGE); the males are diploid soon after fertilization, but during embryogenesis, the male paternal set of chromosomes becomes heterochromatic (HC) and therefore inactive. Previous studies have suggested that paternal genes can be passed on from mealybug males to their sons, ...
Okumura Akihisa A Department of Pediatrics, Faculty of Medicine, Juntendo University, Tokyo, Japan; Department of Pediatrics, Aichi Medical University, Aichi, Japan. Electronic address: - - 2014
Microdeletion and microduplication syndromes without characteristic dysmorphic features are difficult to diagnose without chromosomal microarrays. We describe the clinical course and genetic findings of monozygotic twins with intellectual disabilities and autistic features associated with mild facial dysmorphism and microdeletion of chromosome 3p14. The postnatal course of the second twin was ...
Timmons Lisa L Department of Molecular Biosciences, The University of Kansas, Lawrence, KS 66045, - - 2014
Rare Caenorhabditis elegans males arise when sex chromosome non-disjunction occurs during meiosis in self-fertilizing hermaphrodites. Non-disjunction is a relatively rare event, and males are typically observed at a frequency of less than one in five hundred wild-type animals. Males are required for genetic crosses and phenotypic analysis, yet current methods ...
Gu Guangyu G Department of Pathology, University of Utah, Salt Lake City, UT, USA; ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, UT, USA; Genetics Associates, Inc. Nashville, TN, - - 2014
Acute lymphoblastic leukemia (ALL) is the most common form of childhood malignancy. Detecting and characterizing recurrent translocations is critical for ALL diagnosis and treatment. IGH (immunoglobulin heavy chain) rearrangements are relatively common in lymphoproliferative disorders, including ALL. Here we report a 16-year-old boy who was diagnosed with B acute lymphoblastic ...
Cheung Catis Hin Ying CH Department of Biology and Chemistry, City University of Hong Kong, Kowloon, Hong Kong, SAR, - - 2014
Hypoxia caused by eutrophication is amongst the most pressing global problems in aquatic systems. Notably, more than 400 "dead zones" have been identified worldwide, resulting in large scale collapse of fisheries and major changes in the structure and trophodynamics. Recent studies further discovered that hypoxia can also disrupt sex hormone ...
Evans Ben J BJ Biology Department, McMaster University, Hamilton, ON, Canada - - 2014
In species with separate sexes, social systems can differ in the relative variances of male versus female reproductive success. Papionin monkeys (macaques, mangabeys, mandrills, drills, baboons, and geladas) exhibit hallmarks of a high variance in male reproductive success, including a female-biased adult sex ratio and prominent sexual dimorphism. To explore ...
Huang C Q CQ Tropical Crops Genetic Resources Institute, Chinese Academy of Tropical Agricultural Sciences/Key Laboratory of Crop Gene Resources and Germplasm Enhancement in Southern China, Ministry of Agriculture, Danzhou, 571737, Hainan, China, - - 2014
Sequence-related amplified polymorphism (SRAP) is a new molecular marker technology developed based on polymerase chain reaction. The authenticity of 84 progenies of 8 hybrid combinations of Stylosanthes guianensis was identified by SRAP markers to select the true hybrids used in the present study. A total of 35 SRAP primer combinations ...
Fabris Victoria T VT Laboratory of Hormonal Carcinogenesis, Instituto de Biología y Medicina Experimental (Consejo Nacional de Investigaciones Científicas y Técnicas - CONICET), Buenos Aires, Argentina. Electronic address: - - 2014
Cytogenetic studies of breast cancer cells have identified numerous chromosomal imbalances, including gains in human chromosome regions 1q, 4p, 8q, and 20q and losses in regions 1p, 3p, 6q, 11q, 16q, 17p, and 22q. Mouse models have been developed to study the mechanisms of mammary carcinogenesis, and in most cases, ...
Tavaniello S S Department of Agricultural, Environmental and Food Sciences, University of Molise, Via F. De Sanctis snc, 86100 Campobasso, - - 2014
The current research was conducted to compare growth, carcass traits, pH, intramuscular collagen (IMC) properties, and genetic bases of IMC and carcasses (breast-muscle weight) of different lines and generations of adult males and females of Japanese quail (Coturnix japonica). Forty-four quails (generation F0), 22 Pharaoh (F-33) meat-type males and 22 ...
Dor Lior L Hebrew University of Jerusalem; Agricultural Research - - 2014
The white grouper (Epinephelus aeneus) is a promising candidate for domestication and aquaculture due to its fast growth, excellent taste and high market price. A linkage map is an essential framework for mapping QTL for economic traits, and study of genome evolution. DNA of a single individual was deep-sequenced and ...
Pentinpuro Raija Helena RH Oral Development and Orthodontics, Institute of Dentistry, University of - - 2014
Abstract Objective. Previous results regarding human sex chromosome aneuploidies have shown that the X and Y chromosomes affect tooth size and morphology. This study looked for the effect of sex chromosome deficiency on permanent tooth crown heights. Materials and methods. The material, from the Finnish KVANTTI Research Project, consisted of ...
Brown Emily J EJ Department of Integrative Biology, University of California Berkeley, Berkeley, California 94720, - - 2014
The chromatin landscape is key for gene regulation, but little is known about how it differs between sexes or between species. Here, we study the sex-specific chromatin landscape of Drosophila miranda, a species with young sex chromosomes, and compare it with Drosophila melanogaster. We analyze six histone modifications in male ...
Kiuchi Takashi T Department of Agricultural and Environmental Biology, Graduate School of Agricultural and Life Sciences, The University of Tokyo, 1-1-1 Yayoi, Bunkyo-ku, Tokyo 113-8657, - - 2014
The silkworm Bombyx mori uses a WZ sex determination system that is analogous to the one found in birds and some reptiles. In this system, males have two Z sex chromosomes, whereas females have Z and W sex chromosomes. The silkworm W chromosome has a dominant role in female determination, ...
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