Search results for "Genome"
showing 10 items of 1913 documents
DSM-IV Combined Type ADHD Shows Familial Association With Sibling Trait Scores
2008
Contains fulltext : 69060.pdf (Publisher’s version ) (Closed access) Attention deficit hyperactivity disorder (ADHD) is a discrete clinical syndrome characterized by the triad of inattention, hyperactivity, and impulsivity in the context of marked impairments. Molecular genetic studies have been successful in identifying genetic variants associated with ADHD, particularly with DSM-IV inattentive and combined subtypes. Quantitative trait locus (QTL) approaches to linkage and association mapping have yet to be widely used in ADHD research, although twin studies investigating individual differences suggest that genetic liability for ADHD is continuously distributed throughout the population, u…
Rubinstein–Taybi syndrome 2 with cerebellar abnormality and neural tube defect
2019
Rubinstein-Taybi syndrome (RSTS) is a rare dominant disorder with intellectual disability, postnatal growth deficiency, and multiple congenital anomalies. Approximately 50-70% of the patients have a mutation in the CREBBP gene (RSTS1) and 5-10% display an EP300 gene mutation (RSTS2). Craniospinal abnormalities such as microcranium, scoliosis, and lordosis are frequent findings in RSTS1, but malformations of the brain or spinal cord are seen only occasionally. Here, we report on a 3-year-old boy with facial abnormalities of RSTS, broad thumbs and halluces, developmental delay, autistic features, cerebellar underdevelopment, and a neural tube defect. Molecular diagnostic of the CREBBP and EP3…
Pan-cancer analysis of whole genomes
2020
Publisher's version (útgefin grein)
Association Mapping Based on a Common-Garden Migration Experiment Reveals Candidate Genes for Migration Tendency in Brown Trout
2019
A better understanding of the environmental and genetic contribution to migratory behavior and the evolution of traits linked to migration is crucial for fish conservation and fisheries management. Up to date, a few genes with unequivocal influence on the adoption of alternative migration strategies have been identified in salmonids. Here, we used a common garden set-up to measure individual migration distances of generally highly polymorphic brown trout Salmo trutta from two populations. Fish from the assumedly resident population showed clearly shorter migration distances than the fish from the assumed migratory population at the ages of 2 and 3 years. By using two alternative analytical …
Sustainable metabolic engineering for sustainability optimisation of industrial biotechnology
2021
Industrial biotechnology represents one of the most innovating and labour-productive industries with an estimated stable economic growth, thus giving space for improvement of the existing and setting up new value chains. In addition, biotechnology has clear environmental advantages over the chemical industry. Still, biotechnology’s environmental contribution is sometimes valued with controversy and societal aspects are frequently ignored. Environmental, economic and societal sustainability of various bioprocesses becomes increasingly important due to the growing understanding about complex and interlinked consequences of different human activities. Neglecting the sustainability issues in th…
Genomic run-on evaluates transcription rates for all yeast genes and identifies gene regulatory mechanisms
2004
Most studies of eukaryotic gene regulation have been done looking at mature mRNA levels. Nevertheless, the steady-state mRNA level is the result of two opposing factors: transcription rate (TR) and mRNA degradation. Both can be important points to regulate gene expression. Here we show a new method that combines the use of nylon macroarrays and in vivo radioactive labeling of nascent RNA to quantify TRs, mRNA levels, and mRNA stabilities for all the S. cerevisiae genes. We found that during the shift from glucose to galactose, most genes undergo drastic changes in TR and mRNA stability. However, changes in mRNA levels are less pronounced. Some genes, such as those encoding mitochondrial pro…
GWideCodeML: A python package for testing evolutionary hypotheses at the genome-wide level
2020
One of the most widely used programs for detecting positive selection, at the molecular level, is the program codeml, which is implemented in the Phylogenetic Analysis by Maximum Likelihood (PAML) package. However, it has a limitation when it comes to genome-wide studies, as it runs on a gene-by-gene basis. Furthermore, the size of such studies will depend on the number of orthologous genes the genomes have income and these are often restricted to only account for instances where a one-to-one relationship is observed between the genomes. In this work, we present GWideCodeML, a Python package, which runs a genome-wide codeml with the option of parallelization. To maximize the number of analy…
Draft genome sequence of Pseudomonas corrugata, a phytopathogenic bacterium with potential industrial applications
2014
Pseudomonas corrugata was first described as the causal agent of a tomato disease called 'pith necrosis' yet it is considered as a biological resource in various fields such as biocontrol of plant diseases and production of industrially promising microbial biopolymers (mcl-PHA). Here we report the first draft genome sequence of this species. © 2014 Elsevier B.V.
A genome-wide association study of marginal zone lymphoma shows association to the HLA region
2015
Marginal zone lymphoma (MZL) is the third most common subtype of B-cell non-Hodgkin lymphoma. Here we perform a two-stage GWAS of 1,281 MZL cases and 7,127 controls of European ancestry and identify two independent loci near BTNL2 (rs9461741, P=3.95 × 10−15) and HLA-B (rs2922994, P=2.43 × 10−9) in the HLA region significantly associated with MZL risk. This is the first evidence that genetic variation in the major histocompatibility complex influences MZL susceptibility.
Exotic foods reveal contact between South Asia and the Near East during the second millennium BCE
2020
Aunque el papel clave del comercio a larga distancia en la transformación de las cocinas en todo el mundo está bien documentado desde al menos la época romana, la prehistoria del comercio de alimentos euroasiático es menos visible. Con el fin de arrojar luz sobre la transformación de las cocinas del Mediterráneo oriental durante la Edad del Bronce y la Edad del Hierro Temprana, analizamos los microrestos y las proteínas conservadas en el cálculo dental de individuos que vivieron durante el segundo milenio a. Nuestros resultados proporcionan evidencia clara del consumo de alimentos básicos esperados, como cereales (Triticeae), sésamo ( Sesamum ) y dátiles ( Phoenix ). Además, informamos evid…