scholarly journals TERT Genotyping for Evaluation of Reproduction Failure

2019 ◽  
Vol 70 (1) ◽  
pp. 195-198
Author(s):  
Noemi Meszaros ◽  
Nicoleta Ioana Andreescu ◽  
Simona Sorina Farcas ◽  
Andreea Iulia Dobrescu ◽  
Lavinia Elena Stelea ◽  
...  
Keyword(s):  
Pregnancy Loss ◽  
Potential Role ◽  
Study Groups ◽  
Single Nucleotide ◽  
Chorionic Villi ◽  
Laboratory Staff ◽  
Tert Gene ◽  
The Difference ◽  
Further Development

Reproduction failure was associated with advanced maternal age, but the mechanism underlying this events were still under debate. Telomere length of the oocytes has been correlated with the embryo quality, the chance of successful pregnancy and further development of the conception. The study included a total of 35 women with pregnancy loss and 35 fertile proven females. Cytogenetic analysis of the chorionic villi was done for all the women from the study lot that exhibit a pregnancy loss. The TERT rs2736100 genotyping was performed after enrollment of the last patient, and the laboratory staff was blinded to the patients� data. Comparing the frequency of the genotypes in the study groups was found that in the study lot the AC genotypes was the most frequent (51.4%), while in the control lot the AA genotypes was the prevalent genotype (60%). The difference between genotypes frequencies in the study lot and the control lot were statistically significant. To our knowledge, this is the first study addressing the potential role of a single nucleotide variant in TERT gene in relation with miscarriage.

scholarly journals NLRP1 influences the systemic sclerosis phenotype: a new clue for the contribution of innate immunity in systemic sclerosis-related fibrosing alveolitis pathogenesis

2010 ◽  
Vol 70 (4) ◽  
pp. 668-674 ◽  
Author(s):  
P Dieudé ◽  
M Guedj ◽  
J Wipff ◽  
B Ruiz ◽  
G Riemekasten ◽  
...  
Keyword(s):  
Innate Immunity ◽  
Systemic Sclerosis ◽  
Potential Role ◽  
Additive Model ◽  
Nucleotide Polymorphisms ◽  
Fibrosing Alveolitis ◽  
Single Nucleotide ◽  
Risk Alleles ◽  
Caucasian Origin

BackgroundRecent evidence has highlighted a potential role of interleukin 1β (IL-1β) in systemic sclerosis (SSc). NLRP1 provides a scaffold for the assembly of the inflammasome that promotes the processing and maturation of pro-IL-1β. In addition, NLRP1 variants were found to confer susceptibility to autoimmune disorders.ObjectiveTo study a possible association of the NLRP1 rs6502867, rs2670660 and rs8182352, rs12150220 and rs4790797 with SSc in the European Caucasian population.MethodsNLRP1 single nucleotide polymorphisms were genotyped in 3227 individuals comprising a discovery set (870 SSc patients and 962 controls) and a replication set including individuals from Germany (532 SSc patients and 324 controls) and Italy (527 SSc patients and 301 controls), all individuals being of European Caucasian origin.ResultsConditional analyses revealed a significant association for the NLRP1 rs8182352 variant with both anti-topoisomerase-positive and SSc-related fibrosing alveolitis (FA) subsets under an additive model: p=0.0042, OR 1.23 (95% CI 1.07 to 1.41) and p=0.0065 OR 1.19 (95% CI 1.05 to 1.36), respectively. Logistic regression analysis showed an additive effect of IRF5 rs2004640, STAT4 rs7574865 and NLRP1 rs8182352 risk alleles on SSc-related FA.ConclusionsOur results establish NLRP1 as a new genetic susceptibility factor for SSc-related pulmonary fibrosis and anti-topoisomerase-positive SSc phenotypes. This provides new insights into the pathogenesis of SSc, underlining the potential role of innate immunity in particular in the FA-positive SSc subphenotype, which represents a severe subset of the disease.

scholarly journals The Potential Role of Genetic Markers in Talent Identification and Athlete Assessment in Elite Sport

Sports ◽  
2018 ◽  
Vol 6 (3) ◽  
pp. 88 ◽  
Author(s):  
Ysabel Jacob ◽  
Tania Spiteri ◽  
Nicolas Hart ◽  
Ryan Anderton
Keyword(s):  
Genetic Markers ◽  
Skill Acquisition ◽  
Athletic Performance ◽  
Potential Role ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Talent Identification ◽  
Motor Skill Acquisition ◽  
Athletic Ability

In elite sporting codes, the identification and promotion of future athletes into specialised talent pathways is heavily reliant upon objective physical, technical, and tactical characteristics, in addition to subjective coach assessments. Despite the availability of a plethora of assessments, the dependence on subjective forms of identification remain commonplace in most sporting codes. More recently, genetic markers, including several single nucleotide polymorphisms (SNPs), have been correlated with enhanced aerobic capacity, strength, and an overall increase in athletic ability. In this review, we discuss the effects of a number of candidate genes on athletic performance, across single-skilled and multifaceted sporting codes, and propose additional markers for the identification of motor skill acquisition and learning. While displaying some inconsistencies, both the ACE and ACTN3 polymorphisms appear to be more prevalent in strength and endurance sporting teams, and have been found to correlate to physical assessments. More recently, a number of polymorphisms reportedly correlating to athlete performance have gained attention, however inconsistent research design and varying sports make it difficult to ascertain the relevance to the wider sporting population. In elucidating the role of genetic markers in athleticism, existing talent identification protocols may significantly improve—and ultimately enable—targeted resourcing in junior talent pathways.

The Persona and the Addressee in Juvenal Satire 11

Ramus ◽  
1990 ◽  
Vol 19 (2) ◽  
pp. 160-168
Author(s):  
F.M.A. Jones
Keyword(s):  
Small Scale ◽  
Ad Hominem ◽  
The Third ◽  
The Difference ◽  
Further Development ◽  
The Voice

The approach to the Satires of Juvenal via the persona theory is well-known and has been productive. Somewhat less notice has been given to the fact that a considerable number of the satires have their persona moulded around another character, an addressee or an interlocutor, or sometimes an important narrative figure. Such characters ‘justify’ the persona, which can now be seen as a kind of ad hominem irony. This matter is intricately linked with the role of indignatio. Thus indignation, programmed in the first satire, becomes a little suspect in Laronia's mouth in the second. Laronia is a small scale character, but the techniques used in her regard appear again in the third satire, where the difference between Juvenal and Umbricius reveals the inadequacy of indignatio a little more clearly. The difference between the treatment of Crispinus and of Domitian in the fourth satire carries this process further. In the fifth, Juvenal tries to rouse the abject Trebius, but in his own apostrophe to Virro (Sat. 5.107f.) shows that indignatio is not, perhaps, appropriate at all. The role of indignatio diminishes further in the later satires, noticeably in the ninth, where Juvenal's tone is one of banter and Naevolus reveals his own unpleasantness. Much of this process has been charted by S. Braund in a book on the seventh, eighth, and ninth satires. The argument can be resumed with the eleventh satire where there is a further development. In the earlier satires which use address or dialogue there is an impressive realism in dramatic terms about the confrontation and psychology. In the eleventh (and even more, the twelfth) the development of the techniques of irony begins to intrude on the dramatic plausibility: the voice assumed in the poem becomes more aware of the audience as well as the addressee. As the beginning of a demonstration of this change I now provide an analysis of the use of Persicus in the eleventh satire.

scholarly journals Cryo-EM structures of human TMEM120A and TMEM120B

2021 ◽  
Author(s):  
Meng Ke ◽  
Yue Yu ◽  
Changjian Zhao ◽  
Shirong Lai ◽  
Qiang Su ◽  
...  
Keyword(s):  
Potential Role ◽  
Transmembrane Domain ◽  
Transmembrane Protein ◽  
Expression System ◽  
Coiled Coil ◽  
Fatty Acid Elongase ◽  
Coiled Coil Domain ◽  
Induced Currents ◽  
The Difference

TMEM120A (Transmembrane protein 120A) was recently identified as a mechanical pain sensing ion channel named as TACAN, while its homologue TMEM120B has no mechanosensing property1. Here, we report the cryo-EM structures of both human TMEM120A and TMEM120B. The two structures share the same dimeric assembly, mediated by extensive interactions through the transmembrane domain (TMD) and the N-terminal coiled coil domain (CCD). However, the nearly identical structures cannot provide clues for the difference in mechanosensing between TMEM120A and TMEM120B. Although TMEM120A could mediate conducting currents in a bilayer system, it does not mediate mechanical-induced currents in a heterologous expression system, suggesting TMEM120A is unlikely a mechanosensing channel. Instead, the TMDs of TMEM120A and TMEM120B resemble the structure of a fatty acid elongase, ELOVL7, indicating their potential role of an enzyme in lipid metabolism.

scholarly journals Detection of single nucleotide polymorphisms at major prolificacy genes in the Mehraban sheep and association with litter size

2018 ◽  
Vol 18 (3) ◽  
pp. 685-698 ◽  
Author(s):  
Reza Talebi ◽  
Ahmad Ahmadi ◽  
Fazlollah Afraz ◽  
Julien Sarry ◽  
Florent Woloszyn ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Litter Size ◽  
Potential Role ◽  
Chromosome 6 ◽  
The Novel ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Hardy Weinberg Equilibrium ◽  
Gdf9 Gene

Abstract The present study aimed to investigate the presence of polymorphisms at four known genes controlling ovine prolificacy i.e. BMP15, GDF9, BMPR1B and B4GALNT2 in a sample of 115 Iranian Mehraban ewes and their association with litter size (LS) and lambs’ birth weight (BW) traits. Using Sanger sequencing of exons and polymorphism specific genotyping, ten SNPs (Single Nucleotide Polymorphisms) were observed in only two genes, GDF9 and BMPR1B. Seven SNPs were found in the GDF9 gene on the chromosome 5. Among them, six were already described in the coding sequence, and a new one (g.41840985C>T) was found in the 3’UTR. In the BMPR1B gene on the chromosome 6, three novel SNPs were detected in the exon 7 (g.29382184G>A; g.29382337G>A and g.29382340G>A). Allelic frequencies were established for six SNPs among the ten identified and they were in Hardy-Weinberg equilibrium. A significant association was found between the novel SNPs found in the exon 7 of BMPR1B and LS. Present results indicate the potential role of the BMPR1B locus in controlling prolificacy of Mehraban sheep and provide genetic markers for further exploitation in selection to improve reproductive efficiency.

The potential role of the estuarine amphipod Gammarus duebeni in sub-lethal ecotoxicology testing

1996 ◽  
Vol 34 (7-8) ◽  
pp. 93-100 ◽  
Author(s):  
Andrew Lawrence ◽  
Carl Poulter
Keyword(s):  
Respiration Rate ◽  
Potential Role ◽  
Beat Frequency ◽  
Water And Sediment ◽  
Swimming Efficiency ◽  
Significant Impairment ◽  
Estuarine Pollution ◽  
Further Development ◽  
Copper Pollution

The aim of this study was to assess the suitability of Gammarus duebeni as an indicator of estuarine pollution. This involved the development of sub-lethal pollution bioassays monitoring respiration rate, swimming efficiency and precopula pairing; assessment of the sensitivity of the assays to copper pollution and comparison of the suitability of the assays. Significant impairment of respiration rate, as measured by changes in pleopod beat, was determined at a copper concentration of 600 μg 1−1. Significant impairment to swimming ability was determined after exposure to copper pollution at a concentration of 600 μg 1−1 and precopula pairing was significantly reduced at a concentration of 600 μg 1−1. Of the assays, swimming efficiency and pleopod beat frequency appear to offer the most potential for further development. The lower limit of sensitivity of the bioassays developed in this study is yet to be determined. However, the levels of copper shown to induce an effect can be experienced in the natural environment. The study has shown thatGammarus duebeni can be used in sub-lethal pollution assays, at relatively high Cu concentrations, and indicates that it is potentially a useful species with which to assess estuarine water and sediment pollution.

Fracture of SnBi/Ni(P) interfaces

2005 ◽  
Vol 20 (4) ◽  
pp. 818-826 ◽  
Author(s):  
P.L. Liu ◽  
J.K. Shang
Keyword(s):  
Fracture Mechanism ◽  
Fracture Resistance ◽  
Potential Role ◽  
Substrate Interface ◽  
Interfacial Segregation ◽  
The Difference ◽  
Cu Interconnect ◽  
Electroless Ni ◽  
Bi Segregation

Fracture resistance of the interface between electroless Ni(P) and the eutectic SnBi solder alloy was examined in the as-reflowed and aged conditions, to investigate the potential role of Ni in inhibiting interfacial segregation of Bi in SnBi–Cu interconnect. In the as-reflowed condition, the fracture resistance of the SnBi/Ni(P) interface was about the same as that of the SnBi/Cu interface. Upon aging at 120 °C for 7 days the fracture resistance of the SnBi/Ni(P) interface was much higher than that of the SnBi/Cu interface. Such a difference was shown to result from the difference in fracture mechanism as the crack remained along the solder–intermetallic interface in the aged SnBi–Ni interconnect but propagated along the intermetallic–substrate interface in the aged SnBi–Cu interconnect. While fracture of the intermetallic–substrate interface in SnBi–Cu interconnect was due to Bi segregation onto that interface, no Bi was detected at the intermetallic-substrate interface in SnBi–Ni interconnects, implying that Ni(P) was effective in inhibiting the interfacial segregation of Bi.

scholarly journals Genetic clues to the etiology of Balkan endemic nephropathy: Investigating the role of ACE and AT1R polymorphisms

2010 ◽  
Vol 62 (4) ◽  
pp. 957-965
Author(s):  
Zorica Krcunovic ◽  
Ivana Novakovic ◽  
Nela Maksimovic ◽  
Danica Bukvic ◽  
Sanja Simic-Ogrizovic ◽  
...  
Keyword(s):  
Renin Angiotensin System ◽  
Study Groups ◽  
Balkan Endemic Nephropathy ◽  
Endemic Region ◽  
Angiotensin System ◽  
Ras Genes ◽  
Endemic Nephropathy ◽  
The Difference

Balkan endemic nephropathy (BEN) was recognized as a distinct entity more than 50 years ago, but the exact environmental and genetic causes of the disease remain elusive. Considering the role of the renin-angiotensin system (RAS) in the emergence of various nephropathies, in the present study we evaluated the possible association with BEN of polymorphisms in two RAS genes: I/D ACE (an angiotensin-converting enzyme) and A1166C AT1R (an angiotensin type 1 receptor). The study groups consisted of 48 BEN patients from the endemic region in the district of Kolubara, Serbia, 33 patients with other nephropathies and 42 healthy individuals. The ACE DD genotype was significantly more represented in the NBEN group (OR=5.447; 95%CI=1.862-15.932, p<0.01). The frequency of the AT1R CC genotype was higher in BEN patients compared to controls (0.104 vs. 0.048), but the difference was not significant. Though the analyzed polymorphisms are associated with certain nephropathies, we found no support for their specific role in BEN susceptibility.

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