scholarly journals Molecular genetic studies of Chilean avifauna: an overview about current progress

2019 ◽  
Vol 14 (4) ◽  
pp. 459-477
Author(s):  
Nelson Colihueque ◽  
Alberto Gantz
Keyword(s):  
Molecular Genetic ◽  
Research Field ◽  
Bibliographic Databases ◽  
Genetic Studies ◽  
Origin And Evolution ◽  
Research Areas ◽  
Or Groups ◽  
D Loop ◽  
History Of ◽  
Active Research

The biodiversity of Chilean avifauna has been shaped by geological events, geographical factors and extreme climatic regimens. Molecular genetic studies developed to date have begun to provide valuable information to elucidate the effect of these factors on the evolutionary history of Chilean birds. We conducted a search in two bibliographic databases (PubMed and Scopus) over the period between 1998 and 2018 to identify the number and class of articles published in this research field. The quantification of specific research categories was also performed to assess progress in different molecular genetic issues of Chilean birds. Representative studies of the more active research areas: population structure, phylogeography, systematics and taxonomy and genetic diversity, were briefly commented on. Studies on genetic divergence analysis of cryptic species and the underlying genetics at molecular level of adaptive phenotypes in populations, were very scarce. Several types of mitochondrial and nuclear markers have been used, with COI plus D-loop and microsatellite loci, respectively, being the most widely-used markers. However, high-throughput analyses based on complete mitochondrial genomes have also been published. More than one hundred species have been analyzed; the most studied groups being penguins, followed by New World swallows. Although, to date, molecular genetic studies of Chilean birds still require further analysis, the studies available on some species or groups have provided important data to improve our understanding of the origin and evolution of this avifauna.

scholarly journals Molecular genetic verification of isolated mineralocorticoid deficiency due to aldosterone synthase deficiency

2009 ◽  
Vol 55 (1) ◽  
pp. 28-30
Author(s):  
N Yu Kalinchenko ◽  
N A Zubkova ◽  
A N Tyulpakov
Keyword(s):  
Autosomal Recessive ◽  
Molecular Genetic ◽  
Autosomal Recessive Disorder ◽  
Adrenal Hyperplasia ◽  
Genetic Studies ◽  
Aldosterone Synthase ◽  
Salt Wasting ◽  
History Of ◽  
17 Hydroxyprogesterone ◽  
Aldosterone Synthase Deficiency

Isolated mineralocorticoid deficiency is a rare hereditary autosomal recessive disorder that is characterized by salt wasting and that has the severest manifestations in infants. This paper is the first in the Russian literature to describe cases of isolated aldosterone deficiency. In both cases, the patients were monitored and treated for misdiagnosed congenital adrenal hyperplasia; however, the permanently low level of 17-hydroxyprogesterone could put in doubt the diagnosis and suspect isolated mineralocorticoid deficiency, by keeping in mind a history of salt wasting. By using the presented cases as an example, the authors give an algorithm for the examination and differential diagnosis of this condition and other diseases that have the similar clinical picture. Aldosterone synthase deficiency in patients was verified by molecular genetic studies - there were mutations in the CYP112 gene.

Primary Pure Angiosarcoma of the Testis: A Case Report

2014 ◽  
Vol 1 ◽  
Author(s):  
Samay Jain ◽  
Richard Cantley ◽  
Justus Philip
Keyword(s):  
Germ Cell ◽  
Molecular Genetic ◽  
Malignant Neoplasm ◽  
Cell Precursor ◽  
Cell Component ◽  
Genetic Studies ◽  
Spindle Cell Neoplasm ◽  
Primary Angiosarcoma ◽  
History Of ◽  
Vascular Channels

Angiosarcoma is a rare and aggressive, malignant neoplasm of endothelial-cell origin.   A primary angiosarcoma originating in the testicle is extremely rare, with only five previous cases reported in the current literature. We report a case of primary, pure angiosarcoma of the testis in a 63-year-old patient with no history of previous chemotherapy or radiation therapy. By histology, the tumor was a high-grade spindle cell neoplasm, arranged in sheets and poorly-formed vascular channels. The tumor cells were positive for vascular markers (CD31, CD34) by immunohistochemical staining. No evidence of a germ cell component was seen by morphology, immunohistochemistry, or molecular genetic studies. This finding is unique in that it is one of only three reported cases of primary angiosarcomas of the testicle without a germ cell precursor or component.

scholarly journals AI in Greece: The Case of Research on Linked Geospa al Data

AI Magazine ◽  
2018 ◽  
Vol 39 (2) ◽  
pp. 91-96 ◽  
Author(s):  
Manolis Koubarakis ◽  
George Vouros ◽  
Georgios Chalkiadakis ◽  
Vassilis Plagianakos ◽  
Christos Tjortjis ◽  
...  
Keyword(s):  
Artificial Intelligence ◽  
Scientific Organization ◽  
Research Field ◽  
Non Profit ◽  
History Of ◽  
Active Research ◽  
Current Lines ◽  
Almost All

Artificial Intelligence has been an active research field in Greece for over forty years, and there are more than thirty AI groups throughout the country covering almost all subareas of AI. One milestone for AI research in Greece was in 1988, when the Hellenic Artificial Intelligence Society (EETN) was founded as a non-profit, scientific organization on devoted to organizing and promo ng AI research in Greece and abroad. This article explores current lines of AI research in Greece and gives some history of Greek AI research since 1968.

Inheritance of random amplified polymorphic DNA markers in cassava (Manihot esculenta Crantz)

Genome ◽  
1996 ◽  
Vol 39 (5) ◽  
pp. 1039-1043 ◽  
Author(s):  
Rocio Gomez ◽  
Fernando Angel ◽  
Merideth W. Bonierbale ◽  
Fernando Rodriguez ◽  
Joseph Tohme ◽  
...  
Keyword(s):  
Single Dose ◽  
Rapd Markers ◽  
Random Amplified Polymorphic Dna ◽  
Molecular Genetic ◽  
Manihot Esculenta Crantz ◽  
Genetic Studies ◽  
Genetic Segregation ◽  
Molecular Genetic Map ◽  
History Of ◽  
Hybrid Clones

The informativeness and inheritance of randomly amplified polymorphic DNA (RAPD) markers were investigated in an intraspecific F1 progeny derived from two heterozygous parents. The analysis confirmed the utility of RAPD markers for comparing candidate parents for the development of a molecular genetic map, and provided numerous markers for linkage analysis in a crop with a very limited history of classical or molecular genetic studies. Six potential parental lines (themselves F1 hybrid clones) showed between 1.82 and 0.62 segregating bands per primer in three hybrid families. Forty-three percent (309) of 722 primers produced polymorphic products in the most informative of these three crosses, revealing 328 single-dose (SD) markers segregating 1:1 for presence/absence in a progeny of 90 individuals. A second class of informative markers were those present in both parents but segregating in the progeny. Fifty-seven or 67% of the monomorphic but segregating markers exhibited the 3:1 ratio expected for SD dominant markers in a cross between heterozygotes. Linkage groups were constructed from the segregation of SD RAPD markers originating in the female (TMS 30572) and the male (CM2177-2) parent. Key words : RAPDs, molecular markers, genetic segregation, Manihot, single-dose markers.

scholarly journals Application of molecular genetic methods for species Equus caballus – Literature review

2017 ◽  
pp. 21-28
Author(s):  
Nikolett Csizmár ◽  
Szilvia Kusza
Keyword(s):  
Mitochondrial Dna ◽  
Literature Review ◽  
Molecular Genetic ◽  
Equus Caballus ◽  
Genetic Studies ◽  
Loop Region ◽  
D Loop

In this study our aim was to provide a comprihensive overview of the most commonly used methods in molecular genetic studies related to Equus caballus. Thus we are dealing with the D-loop region of mitochondrial DNA, with microsatellites and also with single nucleotid polimorphism as SNP. The advantages and drawbacks of each method were also explored.

scholarly journals ORIGIN AND EVOLUTION OF THE LEGITIMACY MANAGEMENT IN HIGHER EDUCATION

2020 ◽  
Vol 3 (2) ◽  
pp. 93-108 ◽  
Author(s):  
Ana Cruz-Suárez ◽  
Domenico Marino ◽  
Camilo Prado-Roman
Keyword(s):  
Higher Education ◽  
Research Field ◽  
Intellectual Structure ◽  
Current View ◽  
Origin And Evolution ◽  
Main Research ◽  
Research Areas ◽  
Sources Of Knowledge ◽  
Starting Point ◽  
State Of Research

What is being researched and which is the sources of knowledge? Those are questions that researchers ask in the construction of new scientific advances. Research on legitimacy and higher education has grown in recent years. This make difficult to get a current view of the situation in which this field of research is. The purpose of this research is to identify and visualize the current state of research in the field of legitimacy and higher education. Through a bibliometric methodology based on co-citations, the current intellectual structure of this research field is analyzed. Furthermore, the main research areas, the main contributors and the means of dissemination of this knowledge are identified. This work contributes to the development of the field of legitimacy and higher education by providing an integral vision of the situation of this domain, a starting point and an adequate theoretical basis for researchers to build new advances.

scholarly journals Association of ADRB2 gene polymorphism with dilated cardiomyopathy

2021 ◽  
Vol 12 (1) ◽  
pp. 28-33
Author(s):  
Svetlana Y. Nikulina ◽  
Оksana O. Kuznetsova ◽  
Anna A. Chernova ◽  
Gennadiy V. Matyushin ◽  
Anna A. Gurazheva ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Molecular Genetic ◽  
Rare Allele ◽  
Control Group ◽  
Genetic Studies ◽  
Homozygous Genotype ◽  
Number Of Patients ◽  
History Of ◽  
The Common ◽  
Adrb2 Gene

Aim. To study the association of the rs1042713 polymorphism of the ADRB2 gene with cardiomyopathies of various origins. Material and methods. The study included patients with dilated cardiomyopathy (DCMP) and myocardial dilatation of ischemic genesis (DM IG).The total number of people surveyed is 221. The average age of the subjects was 55.309.69 years. Patients were divided into 2 groups: one of them patients with a diagnosis of dilated cardiomyopathy idiopathic (predictors of expansion of the heart cavities are excluded) and the other-patients with dilated myocardium of ischemic origin (a history of IHD). The number of patients in the first group was 111, including 99 (89.2%) men and 12 (10.8%) women. The average age of patients in this group is 51.739.74 years. The second group included patients with myocardial dilatation of ischemic origin. Their number is 110 people, including 100 (91.5%) men and 10 (8.5%) women. The average age of the respondents is 58.688.38 years. The control group consists of individuals who did not have any manifestations of cardiovascular diseases. Their number is 221 people (average age 53.64.8 years). Laboratory and instrumental studies, coronary angiography, and molecular genetic studies of the rs1042713 polymorphism of the ADRB2 gene were performed for all participants in the study. Those patients who were excluded predictors of the occurrence of dilation of the heart cavities were assigned to the first group. The second group included patients with a history of CHD. Results. In the group with DCMP, 10.8% of patients were carriers of the common homozygous AA genotype, the heterozygous AG genotype 48.6%, and the rare homozygous GG genotype 40.5%. In the group of patients with DM IG, 16.4% of patients were carriers of the common homozygous AA genotype, the heterozygous AG genotype 51.8%, and the rare homozygous GG genotype 31.8%. In the control group, 11.8% of patients were identified as carriers of the homozygous genotype for the common allele, 47.5% carriers of the heterozygous genotype, and 40.7% carriers of the homozygous genotype for the rare allele. No statistically significant results were obtained in the group of patients with DCMP and DM IG compared to the control group of the rs1042713 polymorphism of the ADRB2 gene. Conclusion. No association of ADRB2 gene rs1042713 polymorphism with DCMI and DM IG was revealed.

Shaping Vulnerable Bodies at the Thin Boundary between Environment and Organism: Skin, DNA Repair, and a Genealogy of DNA Care Strategies

2015 ◽  
Vol 28 (3) ◽  
pp. 427-464
Author(s):  
Alexander von Schwerin
Keyword(s):  
Dna Repair ◽  
Molecular Level ◽  
Uv Light ◽  
Research Field ◽  
The Body ◽  
Research Areas ◽  
Starting Point ◽  
History Of ◽  
The 1960S ◽  
Radiation Research

ArgumentThis paper brings together the history of risk and the history of DNA repair, a biological phenomenon that emerged as a research field in between molecular biology, genetics, and radiation research in the 1960s. The case of xeroderma pigmentosum (XP), an inherited hypersensitivity to UV light and, hence, a disposition to skin cancer will be the starting point to argue that, in the 1970s and 1980s, DNA repair became entangled in the creation of new models of the human body at risk – what is here conceptually referred to as the vulnerability aspect of body history – and new attempts at cancer prevention and enhancement of the body associated with the new flourishing research areas of antimutagenesis and anticarcinogenesis. The aim will be to demonstrate that DNA repair created special attempts at disease prevention: molecular enhancement, seeking to identify means to increase the self-repair abilities of the body at the molecular level. Prevention in this sense meant enhancing the body's ability to cope with the environmental hazards of an already toxic world. This strategy has recently been adopted by the beauty industry, which introduced DNA care as a new target for skin care research and anti-aging formulas.

scholarly journals A growing sense of well-being: a literature review on the complex framework well-being.

2018 ◽  
Author(s):  
Margot van de Weijer ◽  
Bart Baselmans ◽  
Willem van der Deijl ◽  
Meike Bartels
Keyword(s):  
Social Sciences ◽  
Literature Review ◽  
Gene Expression Regulation ◽  
Molecular Genetic ◽  
Well Being ◽  
Subjective Well Being ◽  
Genetic Studies ◽  
Biological Studies ◽  
History Of ◽  
Insight Into

This review examines the origin and structure of the complex well-being (WB) concept as it is currently applied in behavioral and social sciences. Current research on WB is often divided into two perspectives: subjective well-being (SWB) and psychological well-being (PWB), shaped by the philosophical concepts of hedonism and eudaimonism, respectively. How these different views relate to each other and to WB as a whole has not yet been clearly defined, leading to difficulties in interpretation. In this review, we aim to get more insight into the relation between SWB and PWB. We first present an overview of the philosophical history of SWB and PWB, followed by a systematic literature review. The goal of this review, based on 29 studies, was to investigate how much evidence there is for a conceptual overlap between SWB and PWB. A majority of the studies found appreciable shared variance between the constructs, suggesting that they might be more closely related than previously assumed. On the other hand, evidence from biological studies provides mixed results: a distinction between SWB and PWB based on unique biomarkers is reported, while recent molecular genetic studies show strong genomic overlap between SWB and PWB, but different gene-expression regulation. We end with a discussion on how these findings fit into a well-being framework, and describe some of the issues in the well-being field as we encountered them in our review followed by potential solutions to these problems.

scholarly journals Aging with Down Syndrome—Where Are We Now and Where Are We Going?

2021 ◽  
Vol 10 (20) ◽  
pp. 4687
Author(s):  
Melissa J. Alldred ◽  
Alessandra C. Martini ◽  
David Patterson ◽  
James Hendrix ◽  
Ann-Charlotte Granholm
Keyword(s):  
Down Syndrome ◽  
Neuronal Loss ◽  
Accelerated Aging ◽  
Research Field ◽  
Chromosome 21 ◽  
Research Areas ◽  
Genes Encoding ◽  
The Usa ◽  
History Of ◽  
The Brain

Down syndrome (DS) is a form of accelerated aging, and people with DS are highly prone to aging-related conditions that include vascular and neurological disorders. Due to the overexpression of several genes on Chromosome 21, for example genes encoding amyloid precursor protein (APP), superoxide dismutase (SOD), and some of the interferon receptors, those with DS exhibit significant accumulation of amyloid, phospho-tau, oxidative stress, neuronal loss, and neuroinflammation in the brain as they age. In this review, we will summarize the major strides in this research field that have been made in the last few decades, as well as discuss where we are now, and which research areas are considered essential for the field in the future. We examine the scientific history of DS bridging these milestones in research to current efforts in the field. We extrapolate on comorbidities associated with this phenotype and highlight clinical networks in the USA and Europe pursuing clinical research, concluding with funding efforts and recent recommendations to the NIH regarding DS research.

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