scholarly journals Assessing Noncoding Sequence Variants of GJB2 for Hearing Loss Association

2011 ◽  
Vol 2011 ◽  
pp. 1-8 ◽  
Author(s):  
T. D. Matos ◽  
H. Simões-Teixeira ◽  
H. Caria ◽  
R. Cascão ◽  
H. Rosa ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Upstream Region ◽  
Sequence Variants ◽  
Noncoding Sequence ◽  
Noncoding Regions ◽  
C 23 ◽  
Novel Variants ◽  
Exon 1 ◽  
The Common ◽  
First Time

Involvement of GJB2 noncoding regions in hearing loss (HL) has not been extensively investigated. However, three noncoding mutations, c.-259C>T, c.-23G>T, and c.-23+1G>A, were reported. Also, c.-684_-675del, of uncertain pathogenicity, was found upstream of the basal promoter. We performed a detailed analysis of GJB2 noncoding regions in Portuguese HL patients (previously screened for GJB2 coding mutations and the common GJB6 deletions) and in control subjects, by sequencing the basal promoter and flanking upstream region, exon 1, and 3'UTR. All individuals were genotyped for c.-684_-675del and 14 SNPs. Novel variants (c.-731C>T, c.-26G>T, c.*45G>A, and c.*985A>T) were found in controls. A hearing individual homozygous for c.-684_-675del was for the first time identified, supporting the nonpathogenicity of this deletion. Our data indicate linkage disequilibrium (LD) between SNPs rs55704559 (c.*168A>G) and rs5030700 (c.*931C>T) and suggest the association of c.[*168G;*931T] allele with HL. The c.*168A>G change, predicted to alter mRNA folding, might be involved in HL.

Peculiarities of the juvenile period of the native Chechen genotypes of willow leaf pear (Pyrus salicifolia Pall.)

2020 ◽  
Vol 62 ◽  
pp. 32-38
Author(s):  
E. A. Dolmatov ◽  
R. B. Borzayev ◽  
A. N. Shaipov
Keyword(s):  
Chestnut Soil ◽  
Crop Breeding ◽  
Juvenile Period ◽  
Period 2 ◽  
Russian Research Institute ◽  
The Common ◽  
One Year ◽  
First Time ◽  
Selection Of ◽  
Creative Cooperation

The results of the study of the duration of the juvenile period of indigenous Chechen willow leaf pear genotypes (Pyrus salicifolia Pall.) are given in connection with the acceleration of the breeding process and the use of selected forms in pear breeding for high precocity. The studies were carried out in 2016-2019 at OOO “Orchards of Chechnya” in accordance with the Agreement on creative cooperation with the Russian Research Institute of Fruit Crop Breeding. The work was carried out in accordance with generally accepted programs and methods. The objects of the study were one-year and two-year-old pear seedlings obtained from sowing seeds of selected dwarf and low-growing local Chechen forms of willow pear (P. salicifolia Pall.), laying fruit buds on annual growths and seedlings of Caucasian pear (P. caucasica Fed.), 20 500 pcs. of each specie. The aim of the research was to study the potential of precocity of willow pear seedlings and to reveal of selected forms with the greatest degree of this trait. Stratified seeds were sown in the sowing department of the OOO “Orchards of Chechnya” production nursery in April, 2017. The seedlings were grown according to the common technology in dryland conditions on the plot with chestnut soil. The first fl owering of plants was noted in the spring, 2019. As a result of the research, for the first time on a large number of the experimental material it was found that in the off spring of the indigenous Chechen willow leaf pear genotypes, the selection of a little more than 2% of seedlings with a very short juvenile period (2 years) was possible. They are of great interest in accelerating the breeding process and in the selection of new pear varieties with high precocity. 20 willow leaf pear genotypes were selected for the further use in breeding for high precocity and as sources of the trait of short juvenile period.

Mapping the Heart

2010 ◽  
Vol 18 (4) ◽  
pp. 6-8
Author(s):  
Stephen W. Carmichael
Keyword(s):  
Cyclic Adenosine Monophosphate ◽  
Adenosine Monophosphate ◽  
G Protein Coupled Receptors ◽  
Receptor Subtypes ◽  
Cardiac Muscle Cells ◽  
Guanine Nucleotide Binding Protein ◽  
The Common ◽  
Guanine Nucleotide Binding ◽  
First Time ◽  
G Protein Coupled

Some of the receptors on the surface of cardiac muscle cells (cardiomyocytes) mediate the response of these cells to catecholamines by causing the production of the common second messenger cyclic adenosine monophosphate (cAMP). An example of such receptors are the β1- and β2-adrenergic receptors (βARs) that are heterotrimeric guanine nucleotide-binding protein (G protein)-coupled receptors. Selective stimulation of these two receptor subtypes leads to distinct physiological and pathophysiological responses, but their precise location on the surface of cardiomyocytes has not been correlated with these responses. In an ingenious combination of techniques, Viacheslav Nikolaev, Alexey Moshkov, Alexander Lyon, Michele Miragoli, Pavel Novak, Helen Paur, Martin Lohse, Yuri Korchev, Sian Harding, and Julia Gorelik have mapped the function of these receptors for the first time.

scholarly journals Phylogenomic Evidence of Reinfection and Persistence of SARS-CoV-2: First Report from Colombia

Vaccines ◽  
2021 ◽  
Vol 9 (3) ◽  
pp. 282
Author(s):  
Juan David Ramírez ◽  
Marina Muñoz ◽  
Nathalia Ballesteros ◽  
Luz H. Patiño ◽  
Sergio Castañeda ◽  
...  
Keyword(s):  
Viral Persistence ◽  
Transmission Dynamics ◽  
Polymorphism Analysis ◽  
Rt Pcr ◽  
Paired Samples ◽  
Infection Dynamics ◽  
Oxford Nanopore ◽  
Novel Variants ◽  
First Time ◽  
Oxford Nanopore Technologies

The continuing evolution of SARS-CoV-2 and the emergence of novel variants have raised concerns about possible reinfection events and potential changes in the coronavirus disease 2019 (COVID-19) transmission dynamics. Utilizing Oxford Nanopore technologies, we sequenced paired samples of three patients with positive RT-PCR results in a 1–2-month window period, and subsequent phylogenetics and genetic polymorphism analysis of these genomes was performed. Herein, we report, for the first time, genomic evidence of one case of reinfection in Colombia, exhibiting different SARS-CoV-2 lineage classifications between samples (B.1 and B.1.1.269). Furthermore, we report two cases of possible viral persistence, highlighting the importance of deepening our understanding on the evolutionary intra-host traits of this virus throughout different timeframes of disease progression. These results emphasize the relevance of genomic surveillance as a tool for understanding SARS-CoV-2 infection dynamics, and how this may translate effectively to future control and mitigations efforts, such as the national vaccination program.

scholarly journals Śaivism after the Śaiva Age: Continuities in the Scriptural Corpus of the Vīramāheśvaras

Religions ◽  
2021 ◽  
Vol 12 (3) ◽  
pp. 222
Author(s):  
Elaine M. Fisher
Keyword(s):  
Thirteenth Century ◽  
Common Assumption ◽  
Academic Practice ◽  
The Common ◽  
Popular Work ◽  
First Time

This article makes the case that Vīraśaivism emerged in direct textual continuity with the tantric traditions of the Śaiva Age. In academic practice up through the present day, the study of Śaivism, through Sanskrit sources, and bhakti Hinduism, through the vernacular, are generally treated as distinct disciplines and objects of study. As a result, Vīraśaivism has yet to be systematically approached through a philological analysis of its precursors from earlier Śaiva traditions. With this aim in mind, I begin by documenting for the first time that a thirteenth-century Sanskrit work of what I have called the Vīramāheśvara textual corpus, the Somanāthabhāṣya or Vīramāheśvarācārasāroddhārabhāṣya, was most likely authored by Pālkurikĕ Somanātha, best known for his vernacular Telugu Vīraśaiva literature. Second, I outline the indebtedness of the early Sanskrit and Telugu Vīramāheśvara corpus to a popular work of early lay Śaivism, the Śivadharmaśāstra, with particular attention to the concepts of the jaṅgama and the iṣṭaliṅga. That the Vīramāheśvaras borrowed many of their formative concepts and practices directly from the Śivadharmaśāstra and other works of the Śaiva Age, I argue, belies the common assumption that Vīraśaivism originated as a social and religious revolution.

scholarly journals Genetic characterization at the species and symbiovar level of indigenous rhizobial isolates nodulating Phaseolus vulgaris in Greece

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Evdoxia Efstathiadou ◽  
Georgia Ntatsi ◽  
Dimitrios Savvas ◽  
Anastasia P. Tampakaki
Keyword(s):  
Phaseolus Vulgaris ◽  
Common Bean ◽  
Phylogenetic Affiliation ◽  
Rhizobial Inoculation ◽  
Rhizobial Species ◽  
The Common ◽  
First Time ◽  
Of Greece ◽  
Rhizobial Isolates

AbstractPhaseolus vulgaris (L.), commonly known as bean or common bean, is considered a promiscuous legume host since it forms nodules with diverse rhizobial species and symbiovars. Most of the common bean nodulating rhizobia are mainly affiliated to the genus Rhizobium, though strains belonging to Ensifer, Pararhizobium, Mesorhizobium, Bradyrhizobium, and Burkholderia have also been reported. This is the first report on the characterization of bean-nodulating rhizobia at the species and symbiovar level in Greece. The goals of this research were to isolate and characterize rhizobia nodulating local common bean genotypes grown in five different edaphoclimatic regions of Greece with no rhizobial inoculation history. The genetic diversity of the rhizobial isolates was assessed by BOX-PCR and the phylogenetic affiliation was assessed by multilocus sequence analysis (MLSA) of housekeeping and symbiosis-related genes. A total of fifty fast-growing rhizobial strains were isolated and representative isolates with distinct BOX-PCR fingerpriniting patterns were subjected to phylogenetic analysis. The strains were closely related to R. anhuiense, R. azibense, R. hidalgonense, R. sophoriradicis, and to a putative new genospecies which is provisionally named as Rhizobium sp. I. Most strains belonged to symbiovar phaseoli carrying the α-, γ-a and γ-b alleles of nodC gene, while some of them belonged to symbiovar gallicum. To the best of our knowledge, it is the first time that strains assigned to R. sophoriradicis and harbored the γ-b allele were found in European soils. All strains were able to re-nodulate their original host, indicating that they are true microsymbionts of common bean.

Healthcare and Terrorism: The Lebanese Experience

2021 ◽  
pp. 1-4
Author(s):  
Nooreddine Iskandar ◽  
Tatiana Rahbany ◽  
Ali Shokor
Keyword(s):  
Public Health ◽  
Qualitative Study ◽  
Thematic Analysis ◽  
Terrorist Attacks ◽  
Analysis Method ◽  
Structured Interviews ◽  
Security Issues ◽  
The Face ◽  
The Common ◽  
First Time

Abstract Background: Due to the common instability caused by political and security issues, Lebanese hospitals have experienced acts of terrorism multiple times. The most recent Beirut Explosion even forced several hospitals to cease operations for the first time in decades—but studies show the preparedness levels for such attacks in similar countries are low. Objective: The aim of this study is to explore the experience of Lebanese hospitals with terrorist attacks. Methods: This qualitative study used semi-structured interviews with various stakeholders to assess their experience with terrorist bombings. Data was analyzed using the thematic analysis method. Results: The researchers found that Lebanese hospitals vary greatly in their structures and procedures. Those differences are a function of 3 contextual factors: location, culture, and accreditation status. Hospitals found near ‘dangerous zones’ were more likely to be aware and to have better response to such events. A severe lack of communication, unity of command, and collaboration between stakeholders has made the process fragmented. Conclusion: The researchers recommend a larger role for the Ministry of Public Health (MOPH) in this process, and the creation of a platform where Lebanese organizations can share their experiences to improve preparedness and resilience of the Lebanese healthcare system in the face of terrorism.

scholarly journals Novel MYO15A variants are associated with hearing loss in the two Iranian pedigrees

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Somayeh Khatami ◽  
Masomeh Askari ◽  
Fatemeh Bahreini ◽  
Morteza Hashemzadeh-Chaleshtori ◽  
Saeed Hematian ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Genetic Diagnosis ◽  
Clinical Genetic ◽  
Large Size ◽  
Whole Exome ◽  
Novel Variants ◽  
Syndromic Hearing Loss ◽  
Traditional Approaches

Abstract Background Clinical genetic diagnosis of non-syndromic hearing loss (NSHL) is quite challenging. With regard to its high heterogeneity as well as large size of some genes, it is also really difficult to detect causative mutations using traditional approaches. One of the recent technologies called whole-exome sequencing (WES) has been thus developed in this domain to remove the limitations of conventional methods. Methods This study was a report on a research study of two unrelated pedigrees with multiple affected cases of hearing loss (HL). Accordingly, clinical evaluations and genetic analysis were performed in both families. Results The results of WES data analysis to uncover autosomal recessive non-syndromic hearing loss (ARNSHL) disease-causing variants was reported in the present study. Initial analysis identified two novel variants of MYO15A i.e. c.T6442A:p.W2148R and c.10504dupT:p.C3502Lfs*15 correspondingly which were later confirmed by Sanger validations and segregation analyses. According to online prediction tools, both identified variants seemed to have damaging effects. Conclusion In this study, whole exome sequencing were used as a first approach strategy to identify the two novel variants in MYO15A in two Iranian families with ARNSHL.

scholarly journals Phosphodiesterase sequence variants may predispose to prostate cancer

2015 ◽  
Vol 22 (4) ◽  
pp. 519-530 ◽  
Author(s):  
Rodrigo B de Alexandre ◽  
Anelia D Horvath ◽  
Eva Szarek ◽  
Allison D Manning ◽  
Leticia F Leal ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Immunohistochemical Analysis ◽  
Cyclic Guanosine Monophosphate ◽  
Genome Project ◽  
Guanosine Monophosphate ◽  
Sequence Variants ◽  
Sequencing Data ◽  
Sequence Variations ◽  
Novel Variants ◽  
Somatic State

We hypothesized that mutations that inactivate phosphodiesterase (PDE) activity and lead to increased cAMP and cyclic guanosine monophosphate levels may be associated with prostate cancer (PCa). We sequenced the entire PDE coding sequences in the DNA of 16 biopsy samples from PCa patients. Novel mutations were confirmed in the somatic or germline state by Sanger sequencing. Data were then compared to the 1000 Genome Project. PDE, CREB and pCREB protein expression was also studied in all samples, in both normal and abnormal tissue, by immunofluorescence. We identified three previously described PDE sequence variants that were significantly more frequent in PCa. Four novel sequence variations, one each in thePDE4B,PDE6C,PDE7BandPDE10Agenes, respectively, were also found in the PCa samples. Interestingly,PDE10AandPDE4Bnovel variants that were present in 19 and 6% of the patients were found in the tumor tissue only. In patients carrying PDE defects, there was pCREB accumulation (P<0.001), and an increase of the pCREB:CREB ratio (patients 0.97±0.03; controls 0.52±0.03;P-value <0.001) by immunohistochemical analysis. We conclude that PDE sequence variants may play a role in the predisposition and/or progression to PCa at the germline and/or somatic state respectively.

scholarly journals Two new reports of thrips (Thysanoptera: Thripidae) from India

2018 ◽  
Vol 10 (2) ◽  
pp. 11312
Author(s):  
R. R. Rachana ◽  
R. Varatharajan
Keyword(s):  
Frankliniella Occidentalis ◽  
Western Flower Thrips ◽  
Climatic Conditions ◽  
Southern India ◽  
Flower Thrips ◽  
The Common ◽  
Planting Materials ◽  
The Nilgiris ◽  
First Time ◽  
The Western Ghats

Caliothrips punctipennis (Hood) and the male of Western Flower Thrips Frankliniella occidentalis (Pergande) have been recorded for the first time from India.  F. occidentalis was collected on the leaves of Erythrina indica from Ooty in the Nilgiris, the Western Ghats, southern India, whereas C. punctipennis was collected from yellow pan traps laid at Great Nicobar, India.  Considering the quarantine importance of the pest F. occidentalis, the report of the male for the first time in India needs attention and concern.  Males are also known to be more effective vectors of tospoviruses than females.  Xerochrysum bracteatum, the Common Golden Everlasting Daisy, is often taken out of Ooty by tourists to other parts of the country.  This along with other planting materials carried by tourists and farmers could aid in the dispersal of F. occidentalis to the temperate regions of northern and southern India, where it is likely to thrive in the congenial climatic conditions prevalent there.  Under these circumstances, it is imperative that quarantine mechanisms within the country are activated and strengthened, to prevent the spread of this notorious pest to the rest of India from the pockets of its occurrence in southern India - particularly the Nilgiris.  The diagnostic characters of both species are discussed. 

scholarly journals Mapping of the autophagosomal degradome identifies IL-7Rα as key cargo in proliferating CD4+ T-cells

2021 ◽  
Author(s):  
Dingxi Zhou ◽  
Mariana Borsa ◽  
Daniel J. Puleston ◽  
Susanne Zellner ◽  
Jesusa Capera ◽  
...  
Keyword(s):  
Cell Proliferation ◽  
T Cells ◽  
T Cell ◽  
Cd4 T Cells ◽  
Surface Expression ◽  
T Cell Proliferation ◽  
Gamma Chain ◽  
Direct Identification ◽  
The Common ◽  
First Time

CD4+ T cells orchestrate both humoral and cytotoxic immune responses. While it is known that CD4+ T cell proliferation relies on autophagy, direct identification of the autophagosomal cargo involved is still missing. Here, we created a transgenic mouse model, which, for the first time, enables us to directly map the proteinaceous content of autophagosomes in any primary cell by LC3 proximity labelling. IL-7Rα, a cytokine receptor mostly found in naive and memory T cells, was reproducibly detected in autophagosomes of activated CD4+ T cells. Consistently, CD4+ T cells lacking autophagy showed increased IL-7Rα surface expression, while no defect in internalisation was observed. Mechanistically, excessive surface IL-7Rα sequestrates the common gamma chain, impairing the IL-2R assembly and downstream signalling crucial for T cell proliferation. This study provides proof-of-principle that key autophagy substrates can be reliably identified with this model to help mechanistically unravel autophagy's contribution to healthy physiology and disease.

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