H. Ucar, F. Bulut, B. Gurbuz, O. Dilek, Ilker Guney
Cerebral Creatine Deficiency Syndromes (CCDS) are congenital metabolic disorders in the creatine metabolism pathway. In this study, we evaluated the clinical, phenotypic, radiological and genetic features of patients with CCDS. We tried to identify early diagnosis clues in patients. Especially, we reviewed the causes of delay in patients with late diagnosis. In line with these findings, the diagnosis is confirmed by enzyme tests and next generation sequencing based whole genome sequencing. In this study, 6 patients whose diagnosis was genetically confirmed were presented (5 GAMT mutations (someone is complete homozygous deletion in GAMT gene), 1 SLC6A8 mutation). 5 of these patients were from the same family, and 4 patients were patients with a late diagnosis. Two of the 4 patients who were diagnosed late were moderate and two had severe phenotype. The neurological findings consisted of patients with different clinical findings such as speech disorder, cognitive retardation, autism and epilepsy. Patients received appropriate treatment for the type of cerebral creatine deficiency. While response to treatment was good in early diagnosed cases, a partial clinical improvement was detected in cases diagnosed late. The patient, who was started treatment before neurological symptoms appeared, was neurodevelopmentally normal. It was observed that there was a strong relationship between age at diagnosis and phenotype and prognosis. We compared the clinical findings, phenotype and genotype characteristics of patients with CCDS. We reviewed the causes of delay in patients with late diagnosis. Thus, we wanted to raise awareness about early diagnosis and treatment of CCDS, one of the rare metabolic diseases.
{"title":"A novel variation of gamt in cerebral creatine deficiency syndrome, first complete homozygous deletion of GAMT","authors":"H. Ucar, F. Bulut, B. Gurbuz, O. Dilek, Ilker Guney","doi":"10.2298/gensr2301415u","DOIUrl":"https://doi.org/10.2298/gensr2301415u","url":null,"abstract":"Cerebral Creatine Deficiency Syndromes (CCDS) are congenital metabolic disorders in the creatine metabolism pathway. In this study, we evaluated the clinical, phenotypic, radiological and genetic features of patients with CCDS. We tried to identify early diagnosis clues in patients. Especially, we reviewed the causes of delay in patients with late diagnosis. In line with these findings, the diagnosis is confirmed by enzyme tests and next generation sequencing based whole genome sequencing. In this study, 6 patients whose diagnosis was genetically confirmed were presented (5 GAMT mutations (someone is complete homozygous deletion in GAMT gene), 1 SLC6A8 mutation). 5 of these patients were from the same family, and 4 patients were patients with a late diagnosis. Two of the 4 patients who were diagnosed late were moderate and two had severe phenotype. The neurological findings consisted of patients with different clinical findings such as speech disorder, cognitive retardation, autism and epilepsy. Patients received appropriate treatment for the type of cerebral creatine deficiency. While response to treatment was good in early diagnosed cases, a partial clinical improvement was detected in cases diagnosed late. The patient, who was started treatment before neurological symptoms appeared, was neurodevelopmentally normal. It was observed that there was a strong relationship between age at diagnosis and phenotype and prognosis. We compared the clinical findings, phenotype and genotype characteristics of patients with CCDS. We reviewed the causes of delay in patients with late diagnosis. Thus, we wanted to raise awareness about early diagnosis and treatment of CCDS, one of the rare metabolic diseases.","PeriodicalId":50423,"journal":{"name":"Genetika-Belgrade","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"68298119","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"农林科学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
S. Gosic-Dondo, J. Srdić, V. Dragičević, Ž. Popović, D. Ristić, Dragana Brankovic, D. Grcak
The backbone of modern technologies is the creation of tolerant genotypes at the ECB with special emphasis on the interaction between the degree of plant damage and metabolic processes as potential responses to stress. During the vegetation period of 2016 and 2018, the variability and response of four maize genotypes to the effectiveness of insecticides and bioinsecticides and the interdependence with the dynamics of the ECB population were examined. Out of a total of 11,023 attacked plants in both years of the survey, in 2016 the largest number of plants (4,841) with a broken stalk above the ear and at the height of the ear and belonged to categories C3 to C8. In 2018, there was no damage to the tassel and ear, while 3,672 plants were dominated by leaf damage and perforation in the H2 type. In addition to the fact that more infested plants were observed in the genotypes, ZP 434 and ZP 666 the categories of damage type C5, C6 and C7 were more pronounced. The foliar treatment of plants with chlorantraniliprole in two-year research proved to be the most effective with the least number of attacked plants with a high degree of damage. In contrast, bioinsecticide treatment of plants, in addition to a large number of infested plants, was dominated by high categories of damage that deviated from all other treatments as well as from control. Within the definition of the degree of tolerance of maize genotypes, the influence of treatment on changes in secondary metabolites (phytins) in seeds was observed. It was noticed that there is a trend of positive correlation between the amount of phytin in the seed (mg g-1) with the attack of moths of the first generation and the number of dissected larvae, as well as a trend of negative correlation with the percentage of attacks of the second generation. Correlation coefficients are expressed: in the genotype ZP-600, while in the genotype ZP-666 correlation is the lowest, ie. irrelev?nt. The obtained results may be of great importance in future work aimed at the selection of maize genotypes tolerant and resistant to corn borer attack, connected to the role of phytin, as an antioxidant and phosphorus deposited in corn grain.
{"title":"Variability of maize genotypes in the expression of tolerance to European corn borer (Ostrinia nubilalis Hbn.)","authors":"S. Gosic-Dondo, J. Srdić, V. Dragičević, Ž. Popović, D. Ristić, Dragana Brankovic, D. Grcak","doi":"10.2298/gensr2301339g","DOIUrl":"https://doi.org/10.2298/gensr2301339g","url":null,"abstract":"The backbone of modern technologies is the creation of tolerant genotypes at the ECB with special emphasis on the interaction between the degree of plant damage and metabolic processes as potential responses to stress. During the vegetation period of 2016 and 2018, the variability and response of four maize genotypes to the effectiveness of insecticides and bioinsecticides and the interdependence with the dynamics of the ECB population were examined. Out of a total of 11,023 attacked plants in both years of the survey, in 2016 the largest number of plants (4,841) with a broken stalk above the ear and at the height of the ear and belonged to categories C3 to C8. In 2018, there was no damage to the tassel and ear, while 3,672 plants were dominated by leaf damage and perforation in the H2 type. In addition to the fact that more infested plants were observed in the genotypes, ZP 434 and ZP 666 the categories of damage type C5, C6 and C7 were more pronounced. The foliar treatment of plants with chlorantraniliprole in two-year research proved to be the most effective with the least number of attacked plants with a high degree of damage. In contrast, bioinsecticide treatment of plants, in addition to a large number of infested plants, was dominated by high categories of damage that deviated from all other treatments as well as from control. Within the definition of the degree of tolerance of maize genotypes, the influence of treatment on changes in secondary metabolites (phytins) in seeds was observed. It was noticed that there is a trend of positive correlation between the amount of phytin in the seed (mg g-1) with the attack of moths of the first generation and the number of dissected larvae, as well as a trend of negative correlation with the percentage of attacks of the second generation. Correlation coefficients are expressed: in the genotype ZP-600, while in the genotype ZP-666 correlation is the lowest, ie. irrelev?nt. The obtained results may be of great importance in future work aimed at the selection of maize genotypes tolerant and resistant to corn borer attack, connected to the role of phytin, as an antioxidant and phosphorus deposited in corn grain.","PeriodicalId":50423,"journal":{"name":"Genetika-Belgrade","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"68298015","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"农林科学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Mohammad Eslamzadeh-Hesari, M. Omidi, V. Rashidi, A. Etminan, Alireza Ahmadzadeh
Among wild relatives of wheat, Aegilops species are ideal genetic resources for the discovery of new characteristics such as resistance to environmental stresses and even grain quality for wheat improvement. Hence, knowledge of the population structure and genetic diversity of this germplasm is very important for their conservation and further utilization. In the present study, 80 accessions of the Aegilops including Ae. tauschii, Ae. cylindrica and Ae. triuncialis were investigated for genetic diversity using SCoT and CBDP markers. Eight SCOT and twelve CBDP primers amplified a total of 84 and 94 fragments with a mean of 10.50 and 7.83 fragments per primer, respectively. Resolving power (Rp) for SCoT and CBDP primers varied between 6.04 and 11.65, and 13.08 and 28.02, with the polymorphic information content (PIC) from 0.40 to 0.49 and 0.35 to 0.48, respectively. The results of analysis of molecular variance (AMOVA) indicated that the highest proportion of genetic variance referred to between species. SCoT primers indicated high values for all informativeness parameter (except resolving power) than CBDP primers across all tested accessions. However, CBDP primers indicated higher values of the genetic parameters than using SCoT primers. As a result, the maximum values for genetic parameters such as number of effective alleles (Ne), Nei?s gene diversity (H) and Shannon?s information index (I) were detected in Ae. cylindrica and Ae. triuncialis using SCoT and CBDP markers, respectively. Cluster analysis based on those molecular system grouped all accessions into three main clusters. The grouping pattern observed by CBDP primers indicated more clear phylogenetic relationship among some Aegilops species, so that PCoA?s results confirmed the grouping pattern. In conclusion, it was observed that SCoT and CBDP displayed good efficiency in depicting polymorphism among the tested accessions, however, CBDP markers provided a clear grouping pattern of evaluated accessions. Hence, the use of CBDP markers in determining population structure and estimating genetic diversity in other plant species is recommended.
{"title":"Investigation of molecular variability in some Aegilops species using Start Codon Targeted Polymorphism (SCoT) and CAAT-Box Derived Polymorphism (CBDP) markers","authors":"Mohammad Eslamzadeh-Hesari, M. Omidi, V. Rashidi, A. Etminan, Alireza Ahmadzadeh","doi":"10.2298/gensr2301019e","DOIUrl":"https://doi.org/10.2298/gensr2301019e","url":null,"abstract":"Among wild relatives of wheat, Aegilops species are ideal genetic resources for the discovery of new characteristics such as resistance to environmental stresses and even grain quality for wheat improvement. Hence, knowledge of the population structure and genetic diversity of this germplasm is very important for their conservation and further utilization. In the present study, 80 accessions of the Aegilops including Ae. tauschii, Ae. cylindrica and Ae. triuncialis were investigated for genetic diversity using SCoT and CBDP markers. Eight SCOT and twelve CBDP primers amplified a total of 84 and 94 fragments with a mean of 10.50 and 7.83 fragments per primer, respectively. Resolving power (Rp) for SCoT and CBDP primers varied between 6.04 and 11.65, and 13.08 and 28.02, with the polymorphic information content (PIC) from 0.40 to 0.49 and 0.35 to 0.48, respectively. The results of analysis of molecular variance (AMOVA) indicated that the highest proportion of genetic variance referred to between species. SCoT primers indicated high values for all informativeness parameter (except resolving power) than CBDP primers across all tested accessions. However, CBDP primers indicated higher values of the genetic parameters than using SCoT primers. As a result, the maximum values for genetic parameters such as number of effective alleles (Ne), Nei?s gene diversity (H) and Shannon?s information index (I) were detected in Ae. cylindrica and Ae. triuncialis using SCoT and CBDP markers, respectively. Cluster analysis based on those molecular system grouped all accessions into three main clusters. The grouping pattern observed by CBDP primers indicated more clear phylogenetic relationship among some Aegilops species, so that PCoA?s results confirmed the grouping pattern. In conclusion, it was observed that SCoT and CBDP displayed good efficiency in depicting polymorphism among the tested accessions, however, CBDP markers provided a clear grouping pattern of evaluated accessions. Hence, the use of CBDP markers in determining population structure and estimating genetic diversity in other plant species is recommended.","PeriodicalId":50423,"journal":{"name":"Genetika-Belgrade","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"68296856","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"农林科学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
S. Annepu, Happy Sharma, Anupam Barh, R. Dogra, Vipin Sharma, S. Thakur, Vinay Verma, K. Sharma
Identifying potential F1 hybrid combinations based on the parental diversity can increase the breeding efficiency and saves the opportunity cost of time. In this work, the genetic diversity between eggplant genotypes was measured by Mahalanobis D2 statistics and Sequence Related Amplified Polymorphism (SRAP) molecular markers. The genetic distances (GD) were correlated with heterosis and trait wise mean performance of F1 crosses generated in a line ? tester mating design for prediction of F1 performance for agronomically important traits. The cluster analysis performed based on the Mahalanobis D2 distance grouped all the eleven genotypes into two clusters and three clusters were formed based on the SRAP marker data. The polymorphic information content value generated by the 30 SRAP marker combinations ranged from 0.09 to 0.77 with a mean value of 0.38. For yield, the F1 combinations exhibited the mid parent heterosis ranged from 3.99% to 83.34% and the heterobeltiosis from -35.67% to 57.19%. GD based on both phenotypic values and molecular marker data successfully predicted the heterotic patterns in the number of fruits per plant and other fruit morphological traits such as fruit length and fruit breadth which is a significant outcome of the study. A multiple linear regression model that included GD, GCA and SCA was more significantly correlated with heterosis for fruit yield than any genetic parameter alone.
{"title":"Performance prediction of F1 crosses in eggplant (Solanum melongena L.) based on morphological and molecular divergence","authors":"S. Annepu, Happy Sharma, Anupam Barh, R. Dogra, Vipin Sharma, S. Thakur, Vinay Verma, K. Sharma","doi":"10.2298/gensr2301045a","DOIUrl":"https://doi.org/10.2298/gensr2301045a","url":null,"abstract":"Identifying potential F1 hybrid combinations based on the parental diversity can increase the breeding efficiency and saves the opportunity cost of time. In this work, the genetic diversity between eggplant genotypes was measured by Mahalanobis D2 statistics and Sequence Related Amplified Polymorphism (SRAP) molecular markers. The genetic distances (GD) were correlated with heterosis and trait wise mean performance of F1 crosses generated in a line ? tester mating design for prediction of F1 performance for agronomically important traits. The cluster analysis performed based on the Mahalanobis D2 distance grouped all the eleven genotypes into two clusters and three clusters were formed based on the SRAP marker data. The polymorphic information content value generated by the 30 SRAP marker combinations ranged from 0.09 to 0.77 with a mean value of 0.38. For yield, the F1 combinations exhibited the mid parent heterosis ranged from 3.99% to 83.34% and the heterobeltiosis from -35.67% to 57.19%. GD based on both phenotypic values and molecular marker data successfully predicted the heterotic patterns in the number of fruits per plant and other fruit morphological traits such as fruit length and fruit breadth which is a significant outcome of the study. A multiple linear regression model that included GD, GCA and SCA was more significantly correlated with heterosis for fruit yield than any genetic parameter alone.","PeriodicalId":50423,"journal":{"name":"Genetika-Belgrade","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"68296926","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"农林科学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
This research was conducted to examine the fruit characteristics of selected walnut genotypes from the native population of Eastern Serbia. Over 28 trees that deserve attention were recorded through the selection procedure. By grafting, grouping and cultivation under the same conditions at the Fruit Research Institute in Cacak, seven promising genotypes with the most favourable fruit characteristics were identified. Important physical properties of the fruit, such as fruit weight, kernel weight, fruit dimensions and some kernel and shell properties were investigated. The fruits of the selected genotypes were large or very large. The fruit weight ranged from 13.4 to 17.9 g, whereas the kernel weight varied from 6.22 to 8.92 g. The kernel was light-coloured or yellow, of very good taste. The kernel percentage in the tested genotypes was high, over 50.0% (50.7-55.3%). Pearson's correlation coefficient revealed a significant correlation between fruit and kernel characteristics. PCA analysis showed an adequate grouping of genotypes based on fruit quality. The obtained results suggest that selected promising walnut genotypes showed very good fruit properties, and may contribute to the increase of walnut production in the future.
{"title":"Fruit characteristics of promising walnut genotypes from the region of Eastern Serbia","authors":"S. Paunović, R. Miletić","doi":"10.2298/gensr2301193p","DOIUrl":"https://doi.org/10.2298/gensr2301193p","url":null,"abstract":"This research was conducted to examine the fruit characteristics of selected walnut genotypes from the native population of Eastern Serbia. Over 28 trees that deserve attention were recorded through the selection procedure. By grafting, grouping and cultivation under the same conditions at the Fruit Research Institute in Cacak, seven promising genotypes with the most favourable fruit characteristics were identified. Important physical properties of the fruit, such as fruit weight, kernel weight, fruit dimensions and some kernel and shell properties were investigated. The fruits of the selected genotypes were large or very large. The fruit weight ranged from 13.4 to 17.9 g, whereas the kernel weight varied from 6.22 to 8.92 g. The kernel was light-coloured or yellow, of very good taste. The kernel percentage in the tested genotypes was high, over 50.0% (50.7-55.3%). Pearson's correlation coefficient revealed a significant correlation between fruit and kernel characteristics. PCA analysis showed an adequate grouping of genotypes based on fruit quality. The obtained results suggest that selected promising walnut genotypes showed very good fruit properties, and may contribute to the increase of walnut production in the future.","PeriodicalId":50423,"journal":{"name":"Genetika-Belgrade","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"68297239","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"农林科学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
The present research aimed to estimate the plant growth, fruit yield, seed and biochemical traits among the seven pepper parental lines and their six BC2F1 populations in order to generate information regarding the extent of genetic variability, heritability and genetic advance. The study was conducted using a randomized complete block design (RCBD) with three replications at the Vegetable Research Farm of Punjab Agricultural University, Ludhiana, India. The analysis of variance (ANOVA) showed significant mean squares due to parents and BC2F1 populations for almost all the studied traits, it indicating the presence of a sufficient amount of inherent variability among the parental line and developed populations which could be exploited via selection. The plant height, fruit weight, fruit width, number of lobes fruit-1, chlorophyll b, total chlorophyll, chlorophyll a and total fruit yield plant-1 were recorded high GCV and PCV among the parental lines and developed populations BC2F1, indicating higher extent of variability for these traits in the evaluated genotypes. The results revealed that traits with high GCV and PCV offer a better scope for improvement through simple selection. High heritability and high estimates of genetic advance were determined for the traits viz., plant height, fruit weight, ascorbic acid content and total fruit yield plant-1, in both parents and populations. Based on these results, we can conclude that these traits are under the additive gene effects and that above mentioned characters could be considered as a good selection indices in bell pepper.
{"title":"Genetic variability for plant growth, fruit, seed and biochemical traits in bell pepper breeding populations under North Indian plains","authors":"M. Rani, S. Jindal, O. Meena","doi":"10.2298/gensr2301111r","DOIUrl":"https://doi.org/10.2298/gensr2301111r","url":null,"abstract":"The present research aimed to estimate the plant growth, fruit yield, seed and biochemical traits among the seven pepper parental lines and their six BC2F1 populations in order to generate information regarding the extent of genetic variability, heritability and genetic advance. The study was conducted using a randomized complete block design (RCBD) with three replications at the Vegetable Research Farm of Punjab Agricultural University, Ludhiana, India. The analysis of variance (ANOVA) showed significant mean squares due to parents and BC2F1 populations for almost all the studied traits, it indicating the presence of a sufficient amount of inherent variability among the parental line and developed populations which could be exploited via selection. The plant height, fruit weight, fruit width, number of lobes fruit-1, chlorophyll b, total chlorophyll, chlorophyll a and total fruit yield plant-1 were recorded high GCV and PCV among the parental lines and developed populations BC2F1, indicating higher extent of variability for these traits in the evaluated genotypes. The results revealed that traits with high GCV and PCV offer a better scope for improvement through simple selection. High heritability and high estimates of genetic advance were determined for the traits viz., plant height, fruit weight, ascorbic acid content and total fruit yield plant-1, in both parents and populations. Based on these results, we can conclude that these traits are under the additive gene effects and that above mentioned characters could be considered as a good selection indices in bell pepper.","PeriodicalId":50423,"journal":{"name":"Genetika-Belgrade","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"68297249","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"农林科学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
E. Karagur, Aydın Demiray, N. Karagenç, E. Elver, O. Tokgun, A. Yaren, G. Dogu, H. Akça
We know that detection of EGFR mutations is very important for individual therapy. Nowadays FFPE samples are commonly using to detect the EGFR mutation status. But it has a few handicaps such as, tumor heterogeneity and non-repeatable, it is need to examine mutation statues of EGFR after each treatment regimen for individually treatment of NSCLC patients. Therefore, there is still need to develop non-invasive and useable over and over again approach for monitoring EGFR mutation statues and other genes for individual therapy. So, we aim to examine whether exosomes are good target for detection of EGFR mutation status or not. Pyrosequencing was used to detect, EGFR mutation in FFPE and exosome samples in some NSCLC patients. For the patients given different chemotherapy regime (n=28), PFS was evaluated before and after treatment. In patients who were EGFR positive before treatment, the median PFS for EGFR mutation-positive patients after treatment was 101.7 weeks (95% CI: 0.09-3.21), while for patients who were negative after treatment, the median PFS was 42.43 weeks (95% CI: 0.31- 10.52). Likewise, in patients who were EGFR negative before treatment and EGFR mutation negative after treatment, the PFS was median 52 weeks (95% CI: 0.17-2.84), while in patients who were positive after treatment, the median PFS was 27.57 weeks (95% CI: 0.35-5.58). We show that exosomes are good tools for monitoring EGFR mutation status and exosomes can be use as semi-invasive method for isolation of tumor DNAs for detection of mutation statues for individually treatment of NSCLC patients.
{"title":"Is there an advantage of monitoring via exosome-based detection of EGFR mutations during treatment in non-small cell lung cancer patients?","authors":"E. Karagur, Aydın Demiray, N. Karagenç, E. Elver, O. Tokgun, A. Yaren, G. Dogu, H. Akça","doi":"10.2298/gensr2301083k","DOIUrl":"https://doi.org/10.2298/gensr2301083k","url":null,"abstract":"We know that detection of EGFR mutations is very important for individual therapy. Nowadays FFPE samples are commonly using to detect the EGFR mutation status. But it has a few handicaps such as, tumor heterogeneity and non-repeatable, it is need to examine mutation statues of EGFR after each treatment regimen for individually treatment of NSCLC patients. Therefore, there is still need to develop non-invasive and useable over and over again approach for monitoring EGFR mutation statues and other genes for individual therapy. So, we aim to examine whether exosomes are good target for detection of EGFR mutation status or not. Pyrosequencing was used to detect, EGFR mutation in FFPE and exosome samples in some NSCLC patients. For the patients given different chemotherapy regime (n=28), PFS was evaluated before and after treatment. In patients who were EGFR positive before treatment, the median PFS for EGFR mutation-positive patients after treatment was 101.7 weeks (95% CI: 0.09-3.21), while for patients who were negative after treatment, the median PFS was 42.43 weeks (95% CI: 0.31- 10.52). Likewise, in patients who were EGFR negative before treatment and EGFR mutation negative after treatment, the PFS was median 52 weeks (95% CI: 0.17-2.84), while in patients who were positive after treatment, the median PFS was 27.57 weeks (95% CI: 0.35-5.58). We show that exosomes are good tools for monitoring EGFR mutation status and exosomes can be use as semi-invasive method for isolation of tumor DNAs for detection of mutation statues for individually treatment of NSCLC patients.","PeriodicalId":50423,"journal":{"name":"Genetika-Belgrade","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"68297462","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"农林科学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
D. Djokić, M. Tabaković, J. Knežević, Bojana Milenkovic, D. Poštić, R. Štrbanović, R. Stanisavljević
The shape and the size of maize seeds are the most variable traits, which are determined by a genotype and environmental conditions. The aim of this study was to understand the effects of the mechanism of the relationship and significance of seed variability on germination and morphology of seedlings. The seeds of five hybrids ZP388, ZP434, ZP555, ZP606, and ZP6263 were used in this study. The following seed traits were analysed: physical ones: seed length (L), thickness (T) and the width (W); morphological ones: seed weight (SW), seedling length (SLW), root length (RL), shoot length (SL) and seed germination (G) as a phydiological trait. There are statistically significant differences not only among physical traits of the seeds of the five hybrids (p?0.05), but also among the morphological traits (p?0.05). Statisticlly significant differences (p?0.05). in the width (W), length(L) and thickness (T) of seeds of all hybrids were determined in the small flat fraction (SP). The large rounded seed fraction (KO) mainly differed in the width and thickness between hybrids ZP434 and ZP 555, while the large flat seed fraction differed the most in the length between these two hybrids. Large-flat (KP) seed fractions are also characterized by the highest germination (99%). As the seed weight increases, the seedling weight decreases (R2=0.527). Segmentation within hybrids according to the diversity of morphological and physiological properties of seeds was carried out according to the seed size, fraction and seedling weight, while the other parameters were less important. The characteristic of all hybrids is that large seeds of the KP fraction have high germination and well-developed seedlings.
{"title":"Variability and correlation between properties of maize hybrid seeds of different fractions obtained after seed processing and the initial seedling growth","authors":"D. Djokić, M. Tabaković, J. Knežević, Bojana Milenkovic, D. Poštić, R. Štrbanović, R. Stanisavljević","doi":"10.2298/gensr2301289d","DOIUrl":"https://doi.org/10.2298/gensr2301289d","url":null,"abstract":"The shape and the size of maize seeds are the most variable traits, which are determined by a genotype and environmental conditions. The aim of this study was to understand the effects of the mechanism of the relationship and significance of seed variability on germination and morphology of seedlings. The seeds of five hybrids ZP388, ZP434, ZP555, ZP606, and ZP6263 were used in this study. The following seed traits were analysed: physical ones: seed length (L), thickness (T) and the width (W); morphological ones: seed weight (SW), seedling length (SLW), root length (RL), shoot length (SL) and seed germination (G) as a phydiological trait. There are statistically significant differences not only among physical traits of the seeds of the five hybrids (p?0.05), but also among the morphological traits (p?0.05). Statisticlly significant differences (p?0.05). in the width (W), length(L) and thickness (T) of seeds of all hybrids were determined in the small flat fraction (SP). The large rounded seed fraction (KO) mainly differed in the width and thickness between hybrids ZP434 and ZP 555, while the large flat seed fraction differed the most in the length between these two hybrids. Large-flat (KP) seed fractions are also characterized by the highest germination (99%). As the seed weight increases, the seedling weight decreases (R2=0.527). Segmentation within hybrids according to the diversity of morphological and physiological properties of seeds was carried out according to the seed size, fraction and seedling weight, while the other parameters were less important. The characteristic of all hybrids is that large seeds of the KP fraction have high germination and well-developed seedlings.","PeriodicalId":50423,"journal":{"name":"Genetika-Belgrade","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"68297952","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"农林科学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
The present study was conducted to find out correlation and path analysis for 10 yield and yield attributing traits using 159 diverse pea genotypes. Correlation studies revealed that the days to 50% flowering, node at which 1st pod appears, number of pods/plant, number of seeds/pod, pod length, pod weight and days to 1st picking had significant and positive correlation with total yield/plant while, plant height and shelling percentage were negatively correlated with total yield/plant. The inter-correlation was observed between days to 50% flowering, days to 1stpicking and node at which 1stpod appears; shelling percentage with number of seeds/pod and pod length; plant height with number of pods/plant and days to 1st picking. It is concluded that there is positive and inter-correlation of total yield/plant with the number of pods/plant, pod length, number of seeds/pod, days to 50% flowering, days to 1stpicking. The positive association suggested that selection should be oriented towards more number of pods per plant, pod length, more number of seeds per pod which would consequently leads to higher pod yield per plant. The Path analysis studies revealed that the number of pods per plant exhibit highest positive effect on yield per plant.
{"title":"Association studies in pea for yield and yield attributing traits","authors":"Hardeep Kaur, R. Dhall, P. Sharma","doi":"10.2298/gensr2301373k","DOIUrl":"https://doi.org/10.2298/gensr2301373k","url":null,"abstract":"The present study was conducted to find out correlation and path analysis for 10 yield and yield attributing traits using 159 diverse pea genotypes. Correlation studies revealed that the days to 50% flowering, node at which 1st pod appears, number of pods/plant, number of seeds/pod, pod length, pod weight and days to 1st picking had significant and positive correlation with total yield/plant while, plant height and shelling percentage were negatively correlated with total yield/plant. The inter-correlation was observed between days to 50% flowering, days to 1stpicking and node at which 1stpod appears; shelling percentage with number of seeds/pod and pod length; plant height with number of pods/plant and days to 1st picking. It is concluded that there is positive and inter-correlation of total yield/plant with the number of pods/plant, pod length, number of seeds/pod, days to 50% flowering, days to 1stpicking. The positive association suggested that selection should be oriented towards more number of pods per plant, pod length, more number of seeds per pod which would consequently leads to higher pod yield per plant. The Path analysis studies revealed that the number of pods per plant exhibit highest positive effect on yield per plant.","PeriodicalId":50423,"journal":{"name":"Genetika-Belgrade","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"68298048","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"农林科学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-06-09eCollection Date: 2022-01-01DOI: 10.3389/fopht.2022.897128
Mirna Elghobashy, Hannah C Lamont, Alexander Morelli-Batters, Imran Masood, Lisa J Hill
Glaucoma is the leading cause of irreversible blindness globally, with Primary open angle glaucoma (POAG) being the commonest subtype. POAG is characterized by an increase in intraocular pressure (IOP), leading to optic nerve damage and subsequent visual field defects. Despite the clinical burden this disease poses, current therapies aim to reduce IOP rather than targeting the underling pathogenesis. Although the pathogenesis of POAG is complex, the culprit for this increase in IOP resides in the aqueous humour (AH) outflow pathway; the trabecular meshwork (TM) and Schlemm's canal. Dysfunction in these tissues is due to inherent mitochondrial dysfunction, calcium influx sensitivity, increase in reactive oxygen species (ROS) production, TGFβ-2 induction, leading to a sustained inflammatory response. Magnesium is the second most common intracellular cation, and is a major co-factor in over 300 reactions, being highly conserved within energy-dependent organelles such as the mitochondria. Magnesium deficiency has been observed in POAG and is linked to inflammatory and fibrotic responses, as well as increased oxidative stress (OS). Magnesium supplementation been shown to reduce cellular ROS, alleviate mitochondrial dysregulation and has further antifibrotic and anti-inflammatory properties within ocular tissues, and other soft tissues prone to fibrosis, suggesting that magnesium can improve visual fields in patients with POAG. The link between magnesium deficiency and glaucoma pathogenesis as well as the potential role of magnesium supplementation in the management of patients with POAG will be explored within this review.
{"title":"Magnesium and Its Role in Primary Open Angle Glaucoma; A Novel Therapeutic?","authors":"Mirna Elghobashy, Hannah C Lamont, Alexander Morelli-Batters, Imran Masood, Lisa J Hill","doi":"10.3389/fopht.2022.897128","DOIUrl":"10.3389/fopht.2022.897128","url":null,"abstract":"<p><p>Glaucoma is the leading cause of irreversible blindness globally, with Primary open angle glaucoma (POAG) being the commonest subtype. POAG is characterized by an increase in intraocular pressure (IOP), leading to optic nerve damage and subsequent visual field defects. Despite the clinical burden this disease poses, current therapies aim to reduce IOP rather than targeting the underling pathogenesis. Although the pathogenesis of POAG is complex, the culprit for this increase in IOP resides in the aqueous humour (AH) outflow pathway; the trabecular meshwork (TM) and Schlemm's canal. Dysfunction in these tissues is due to inherent mitochondrial dysfunction, calcium influx sensitivity, increase in reactive oxygen species (ROS) production, TGFβ-2 induction, leading to a sustained inflammatory response. Magnesium is the second most common intracellular cation, and is a major co-factor in over 300 reactions, being highly conserved within energy-dependent organelles such as the mitochondria. Magnesium deficiency has been observed in POAG and is linked to inflammatory and fibrotic responses, as well as increased oxidative stress (OS). Magnesium supplementation been shown to reduce cellular ROS, alleviate mitochondrial dysregulation and has further antifibrotic and anti-inflammatory properties within ocular tissues, and other soft tissues prone to fibrosis, suggesting that magnesium can improve visual fields in patients with POAG. The link between magnesium deficiency and glaucoma pathogenesis as well as the potential role of magnesium supplementation in the management of patients with POAG will be explored within this review.</p>","PeriodicalId":50423,"journal":{"name":"Genetika-Belgrade","volume":"1 1","pages":"897128"},"PeriodicalIF":0.0,"publicationDate":"2022-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11182183/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90279755","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"农林科学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
京公网安备 11010802042870号
京ICP备2023020795号-1
扫码关注我们
求助内容：
应助结果提醒方式：