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Добірка наукової літератури з теми "3105 Genetics"

Автор: Grafiati

Опубліковано: 10 січня 2023

Оновлено: 28 січня 2023

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Статті в журналах з теми "3105 Genetics"

Jakobczyk, Helene, Giuseppina Camiolo, Camille Malouf, Eric Antunes, and Katrin Ottersbach. "3105 – IMPACT OF DACH1 DOWNREGULATION ON MLL-AF4 INFANT LEUKEMOGENESIS." Experimental Hematology 111 (2022): S97. http://dx.doi.org/10.1016/j.exphem.2022.07.161.

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Cerhan, James R., Sonja I. Berndt, Joseph Vijai, Hervé Ghesquières, James McKay, Sophia S. Wang, Zhaoming Wang, et al. "Genome-wide association study identifies multiple susceptibility loci for diffuse large B cell lymphoma." Nature Genetics 46, no. 11 (September 28, 2014): 1233–38. http://dx.doi.org/10.1038/ng.3105.

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Nakamura-Ishizu, Ayako. "3105 – MITOCHONDRIAL IRON DYNAMICS UNDERLIE CYTOKINE-MEDIATED REGULATION OF HEMATOPOIETIC STEM CELLS." Experimental Hematology 100 (August 2021): S93. http://dx.doi.org/10.1016/j.exphem.2021.12.322.

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Publicover, Stephen John. "Ca2+ signalling in the control of motility and guidance in mammalian sperm." Frontiers in Bioscience Volume, no. 13 (2008): 5623. http://dx.doi.org/10.2741/3105.

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Hailemichael, Yared, Zhimin Dai, Nina Jaffarzad, Yang Ye, Miguel A. Medina, Xue-Fei Huang, Stephanie M. Dorta-Estremera, et al. "Persistent antigen at vaccination sites induces tumor-specific CD8+ T cell sequestration, dysfunction and deletion." Nature Medicine 19, no. 4 (March 3, 2013): 465–72. http://dx.doi.org/10.1038/nm.3105.

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MacAldaz, Margarita, Annelise Bennaceur-Griscelli, Connie Eaves, Melanie Kardel, Paul Miller, and Ali Turhan. "3105 – ENHANCED OUTPUT OF PRIMITIVE HEMATOPOIETIC CELL PHENOTYPES IN TERATOMAS GENERATED FROM HUMAN INDUCED PLURIPOTENT STEM CELLS (HIPSCS) IN MORE PERMISSIVE IMMUNODEFICIENT MICE." Experimental Hematology 88 (August 2020): S71. http://dx.doi.org/10.1016/j.exphem.2020.09.117.

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Hao, Ning, Yalin Du, Huiyuan Li, Chao Wang, Chen Wang, Siyu Gong, Shengmao Zhou, and Tao Wu. "CsMYB36 is involved in the formation of yellow green peel in cucumber (Cucumis sativus L.)." Theoretical and Applied Genetics 131, no. 8 (May 8, 2018): 1659–69. http://dx.doi.org/10.1007/s00122-018-3105-7.

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Ordoñez Cañizares, M. D. C., N. Mena-Vázquez, R. Redondo, S. Manrique Arija, I. Ureña, and A. Fernandez-Nebro. "FRI0496 FRECUENCY OF POLYAUTOIMMUNITY IN RHEUMATOID ARTHRITIS AND SYSTEMIC LUPUS ERITHEMATOSUS." Annals of the Rheumatic Diseases 79, Suppl 1 (June 2020): 846.1–846. http://dx.doi.org/10.1136/annrheumdis-2020-eular.3105.

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Background:Objectives:To study the frequency of polyautoinmunity and multiple autoinmune syndrome (MAS) in patients with rheumatoid arthritis (RA) and systemic lupus erithematosus (SLE).Methods:Study design: We performed a cross-sectional study in patients with RA and SLE, and compared them with healthy subjects. Cases: RA patients classified by ACR/EULAR 2010 criteria and SLE patients classified by ACR/EULAR 2019 criteria. SLE and RA patients were compiled consecutively from a rheumatology clinic of the Regional University hospital of Malaga. Controls: subjects without rheumatologic autoimmune disease (AD) from the same population area. Protocol: All subjects filled out a predesigned questionnaire for the collection of polyautoimmunity data on the cut-off date. Main variables: polyautoimmunity was defined as co-occurrence of SLE or RA and other AD. Secondary variables: Rheumatologic, cutaneous, endocrine, digestive and neurological AD. MAS was defined as presence of three or more AD. Family history of SLE, RA and other autoimmune diseases were also collected. Statistic analysis: descriptive analysis, bivariate analysis and multivariable analysis were done. (Dependent variable: Polyautoimmunity).Results:We recruited 109 patients with RA, 105 with SLE and 88 controls. Fifteen patients with RA (13.8%), 43 with SLE (41%) and 2 controls (2.2%) reported polyautoimmunity. Table 1 describes the epidemiological characteristics, comorbidities and polyautoimmunity in study population. The most frequent AD associated with RA was Sjögren’s syndrome (SS) (53.3%) and SS (55.8%) followed by the antiphospholipid syndrome (30.2%) were associated with SLE. Hashimoto’s thyroiditis and psoriasis were the next most frequent AD. According to family history, 5 patients with RA (33.3%) and 12 with SLE (27.9%) had a family history of first degree of other AD. Obesity was associated with polyautoimmunity in RA (OR = 3,362, p = 0.034). In SLE, joint damage (OR = 2.282, p = 0.038) and anti-RNP antibodies (OR = 5.095, p = 0.028) were factors associated with polyautoimmunity and taking hydroxychloroquine was a protective factor (OR = 0.190, p = 0.004).Conclusion:Polyautoimmunity in RA and especially in SLE is frequent. It was associated with obesity in RA and in SLE with joint damage and anti-RNP antibodies. The hydroxychloroquine appeared as a protective factor.VariablesRA(N=109)SLE(N=105)Controls(N=88)P valueEpidemiological characteristicsSex: female, n (%)85 (78.0)99 (94.3)68 (77.3)0.001Age, mean (SD), years56.5 (10.8)50.8 (13.2)57.1 (10.6)0.133Caucasic race, n (%)107 (98.2)105 (100)88 (100)0.168ComorbiditiesSmoking0.001 No smoking, n (%)55 (50.5)78 (74.3)56 (63.6) Smoking history, n (%)54 (49.5)27 (25.7)32 (36.4)Obesity, n (%)38 (34.9)21 (20.0)22 (25.0)0.044Dyslipidemia, n (%)24 (22.0)22 (21.2)17 (19.3)0.896Hypertension, n (%)27 (24.8)28 (26.7)23 (26.1)0.746Diabetes mellitus, n (%)7 (6.4)1 (1.0)1 (1.1)0.031Polyautoimmunity, n (%)15 (13.8)43 (41)2 (2.2)<0.001MAS, n (%)1 (0.9)9 (8,6)0 (0.0)<0.001FH polyautoimmunity, n (%)19 (17.6)26 (24.8)15 (17.0)0.060RA: rheumatoid arthritis; SLE: systemic lupus erithematosus; SD: standard desviation; MAS: multiple autoinmune syndrome; FH:Family historyDisclosure of Interests:None declared

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Keret, S., Y. Braun-Moscovici, M. Yigla, V. Shataylo, L. Guralnik, and A. Balbir-Gurman. "POS0871 CHARACTERISTICS OF INTERSTITIAL LUNG DISEASE IN PATIENTS WITH SYSTEMIC SCLEROSIS DURING LONG TERM FOLLOW-UP, SINGLE CENTER EXPERIENCE." Annals of the Rheumatic Diseases 80, Suppl 1 (May 19, 2021): 691–92. http://dx.doi.org/10.1136/annrheumdis-2021-eular.3105.

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Background:ILD is one the leading causes of morbidity and mortality in patients with SSc. Diagnosis of SScILD is based on signs of fibrosis on chest x-rays or HRCT. Particular measurement of lung volumes by FVC and in gas exchange by DLCO supports the diagnosis. Associations between clinically significant SSc ILD and male gender, age, DcSSc, topoisomerase antibodies, low FVC at baseline, widespread lung involvement on baseline HRCT, and higher decline rate of FVC and DLCO during followup were reported. A standardized approach to assessing and treating SSc and SScILD in particular have been proposed. Main treatment regimens include cyclophosphamide and mycophenolate mofetil; recently antifibrotic drug nintedanib showed significant efficacy in hindering FVC decline rate in patients with SSc ILD. The data on survival changes in SSc generally and SScILD are conflicting.Objectives:To analyze demographic and clinical features and mortality of patients with SSc ILD.Methods:A retrospective study on Rambam Health Care Campus prospective cohort of SSc patients fulfilled ACR and EULAR Classification Criteria 2013 for the period between January 2000 and September 2020 was performed. Patients were recruited at one of their early visits to the clinic. The majority of recruited patients were included into EUSTAR prospective cohort 042, since 2004 the Rheumatology Institute at Rambam is affiliated to EUSTAR registry project. Data on patients not registered in EUSTAR database but treated at our institution was extracted via hospital electronic records. Patients with lung involvement underwent baseline and annual HRCT and pumonary function tests in addition to clinical assessment during their visit to combined rheumatology-pulmonology clinic. We registered age, gender, ethnicity, date of SSc diagnosis and ILD diagnosis, disease duration, SSc subset, pulmonary, cardiac, renal, and muscle involvement, treatment used, autoantibodies, FVC, DLCO, HRCT and pulmonary artery pressure. Statistical analysis included t-test, Pearson’s Chi-squared test, Fisher’s test, and Cox Regression analysis with p value less than 0.05 as significant.Results:Among 446 SSc patients (female 82.3%, mean age 46.5 and disease duration 11.6 years, DcSSc 39.2%; 27.4% dead during follow-up) 141 patients had ILD. Comparison between patient with ILD and witout ILD showed significant differences in term of nationality (Arabs 34% vs 18.7%), SSc related death 78.3% vs 50.7%), DcSSc (68.8% vs 25.6%), topoisomerase antibodies (61.7% vs 24.9%), myopathy (21.3% vs 10.2%) and pulmonary hypertension (34.8% vs 22.3%). Significantly more SSc ILD patients were treated with cyclophosphamide, mycophenolate mofetil and azathioprine. Survival Kaplan-Meier curve patiets demonstrate reduced survival in patients with ILD (p<0.01). Five years survival rates between years 2000 and 2015 have not changed significant. Mortality risk assessed with Cox regression analysis in the whole group was significantly higher in males, Arabs, DcSSc, elder age, heart and muscle involvement, and treatment with CYC. In the ILD group, the mortality was significantly higher in Arabs (3.3 times), elder age (8.9 times), presence of PAH (3.1 times) and treatment with CYC (2.8 times) compared to patients without ILD.Conclusion:In our SSc cohort, ILD affected about third of patients and had major impact on patients’ outcome. Male gender, Arab nationality, elder age, DcSSc, topoisomerase antibodies, heart and muscle involvement were significantly associated with worst prognosis. Despite active approach to assessing and treatment, survival rates of patients with SSc and SSc-ILD have not improved in last decades. Enrichment of the cohort with severe patients to a tertiary center due to reference bias and low efficacy of existed immunomodulatory drugs in SSc and in SSc related ILD particularly, could explain our results.Disclosure of Interests:None declared

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Ben Nessib, D., M. Yasmine, H. Ferjani, W. Triki, K. Maatallah, D. Kaffel, and W. Hamdi. "AB0820 Remission criteria in non-radiographic axial spondyloarthritis: don’t miss subclinical inflammation." Annals of the Rheumatic Diseases 81, Suppl 1 (May 23, 2022): 1537.1–1537. http://dx.doi.org/10.1136/annrheumdis-2022-eular.3105.

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BackgroundWith the advent of the treat-to-target strategy (T2T), clinical remission has become the main objective to achieve in patients with rheumatic diseases. Contrary to rheumatoid arthritis, the T2T strategy is less codified in axial spondyloarthritis, even more in non-radiographic SpA (nr-axSpA) [1]. More importantly, T2T based on imaging remission and guidance for tapering medication has not been extensively studied.ObjectivesThe objective of this study was to investigate the prevalence of bone marrow edema in the sacroiliac joint of nr-axSpA patients in remission.MethodsWe undertook a cross-sectional study including nr-axSpA patients according to the ASAS criteria, treated with NSAIDs. Socio demographic data as well disease characteristics were recorded. Disease activity parameters were also collected including the duration of morning stiffness, the number night awakening, erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), and Bath Ankylosing Spondylitis Disease Activity Index (BASDAI). MRI-SIJ was performed for all the patients. All the images were screened for bone marrow edema with the corresponding sequence (short tau inversion). To define remission, we used in addition to BASDAI<4, more stringent criteria: BASDAI<4 and CRP<6 mg/l and ESR<20 mm/h and EGM<4 [2]. The level of significance was fixed for p<0.05.ResultsThe study included 43 nr-axSpA patients. There was a female predominance with a sex ratio of 0.43. The mean age of the patients was 42±12 years [20-71] and the mean disease duration was 17±9.7 years [4-38]. The mean ESR and CRP were 2.2 mg/L [2-65] and 6.4mm/h [1-47], respectively. A higher level of acute phase reactants was found in 40.5% of cases (ESR: 35.7%, CRP: 11.9%). Forty percent of the patients had high CRP or ESR despite BASDAI<4. According to BADSAI<4, of the 15 patients in remission, BME was displayed in 43.5% of the cases. According to the used criteria, 25.6% of the patients were in remission, of which 45.4% exhibited BME in the sacroiliac joint. There was no statistically significant association between disease activity according to the used definition and the presence of BME (p=0.473). Nr-axSpa patients in remission without BME had more durable morning stiffness and articular involvement without reaching a statistically significant difference (p=0.361, p=0.08 respectively). Similarly, we did not find an association between this subgroup and sex, age, night awakenings, the presence of HLAB27 (p>0.05).ConclusionOur study showed that even when using stringent criteria, subclinical remission evidenced by BME was not achieved in nr-ax SpA. Nevertheless, imaging remains one important parameter to consider in therapeutic decision making. More studies are needed to identify the best criteria for an optimal remission in this population.References[1]Aouad K, De Craemer AS, Carron P. Can Imaging Be a Proxy for Remission in Axial Spondyloarthritis?. Rheum Dis Clin North Am. 2020;46(2):311-25.[2]Navarro-Compán V, Plasencia-Rodríguez C, de Miguel E, et al. Anti-TNF discontinuation and tapering strategies in patients with axial spondyloarthritis: a systematic literature review. Rheumatology (Oxford). 2016;55(7):1188-94.Disclosure of InterestsNone declared

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Більше джерел

Дисертації з теми "3105 Genetics"

September, Alison. "The molecular investigation of Stargardt disease in South Africa." Doctoral thesis, University of Cape Town, 2003. http://hdl.handle.net/11427/3105.

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Bibliography: leaves 116-130.
Hereditary macular degeneration describes a group of conditions causing macular pathology. Stargardt disease (STGD) is the most common inherited juvenile macular dystrophy characterised by severed reduction of central visual acuity and normal peripheral vision. The ABCA4 (adenosine triphosphate binding cassette transporter) gene is the only gene implicated in the autosomal recessive (ar) form of the STGD phenotype, while one genetic locus and one gene have been shown to be causative of the autosomal dominant form.

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Bhatta, Prabhakar. "An investigation of genetic polymorphism in association with Type 2 diabetes and metabolic syndrome." Thesis, Robert Gordon University, 2018. http://hdl.handle.net/10059/3105.

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Type 2 diabetes and metabolic syndrome are the metabolic disorders which constitute a major public health problem in both developed and developing countries. Various studies have suggested the genetic susceptibility to the disorders. The main aim of the thesis was to investigate the putative association of single nucleotide polymorphisms with Type 2 diabetes (T2D), metabolic syndrome (MetS) and the major components of metabolic syndrome. This study used meta‐analysis, polymerase chain reaction (PCR) based restriction fragment length polymorphism (RFLP) and Sanger sequencing methods to analyse the results. The single nucleotide polymorphism rs57829442 of peroxisome proliferator‐activated receptor‐γ coactivator‐1 (PPARGC1A) gene and its relation to risk of type 2 diabetes has been studied in the United Kingdom population. A meta‐analysis of genetic variant rs8192678 (Gly482Ser) of peroxisome proliferator‐activated receptor‐γ coactivator‐1 (PPARGC1A) gene and its association with the components of metabolic syndrome has been studied. An association of the genetic variants rs8192678 (Gly482Ser) of the PPARGC1A gene, rs7903146 of Transcription Factor 7 Like 2 (TCF7L2) gene, rs9939609 of Fat mass and obesity‐associated (FTO) gene and rs1801282 (Pro12Ala) of peroxisome proliferator‐activated receptor gamma (PPARG) gene with the metabolic syndrome and its components has been studied in the Nepalese population. The results showed that variant rs57829442 of PPARGC1A is not associated with T2D in the United Kingdom population. Further investigation with increased sample size is warranted. In the meta‐analysis, the variant rs8192678 (Gly482Ser) of PPARGC1A gene was found to be significantly associated with body mass index (BMI) in Asian populations under dominant genetic model, total cholesterol (TC) in non‐Asian population under recessive genetic model and with fasting plasma glucose (FPG) under a recessive model in overall and non‐Asian populations. No significant association of the variants rs8192678 (Gly482Ser), rs7903146, rs9939609 and rs1801282 (Pro12 Ala) was found associated with MetS under dominant, recessive, co‐dominant and additive models in the Nepalese population. However, the genotypes (AG and AA) of rs8192678 (Gly482Ser) had a statistically significant protective effect on systolic blood pressure. The genotypes with the risk allele of rs9930609 of FTO gene was significantly associated with weight, waist circumference and diastolic blood pressure under dominant genetic model and with BMI under both dominant and recessive genetic models in the Nepalese population. To the best of our knowledge, this is the first study to report the findings in the Nepalese population.

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Abouna, Sylvie. "Non-beta-cell progenitors in pregnant mice and the origin and functionality of beta-cells after diabetic recovery in a c-Myc ablation model." Thesis, University of Warwick, 2009. http://wrap.warwick.ac.uk/3107/.

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The debate regarding the contribution of adult stem/progenitor cells during normal growth and beta-cell regeneration is far from being resolved. Therefore, we addressed in two distinct situations the origin of new beta-cells. We exploited a Cre/loxP lineage tracing system to efficiently label beta-cells in double transgenic mice (Z/AP; RIPCreERTAM) to address the origin of new beta-cell during the beta-cell mass expansion in response to one and two pregnancies. Similarly, we examined origin of new beta-cell after diabetic recovery in triple transgenic mouse (Z/AP; RIPCreERTAM; pIns-c-MycERTAM). Finally we evaluated the functionality of regenerated beta-cells after diabetic recovery in the single pIns-c-MycERTAM mouse model by microfluorimetry, in collaboration with Dr P. Squires. We showed that the beta-cell functionality in the pIns-c-MycERTAM line was abnormal. Second, we showed that the human placental alkaline phosphatase label (HPAP) in the double and triple transgenic mice was 1) specific to beta-cells, 2) irreversible and heritable and 3) tamoxifen dose-dependant. Third, the analysis of the proportion of beta-cells labelled for HPAP in one pregnancy, showed that the HPAP labelling index of the non-pregnant animals (0.44±0.05) was greater that in the pregnant group (0.33±0.06),(paired two-tailed t-test, P-value 0.021), indicating a dilution of the label in pregnant animal pancreata. Furthermore the combined results of the mean HPAP labelling index in non-pregnant animals (0.44±0.12) and pregnant animals (0.33±0.09) in one and two pregnancies reinforced our results above by indicating that the difference between the two groups was considered extremely significant (paired, two-sided student t-test, P-value 0.0007). Likewise, we showed that two to three months after the tamoxifen pulse, beta-cells do not fully lose differentiation or transdifferentiate into other lineages of either endocrine or exocrine compartment. In conclusion, we demonstrated for the first time that non-beta-cell progenitors contribute significantly to the increase of the beta-cell mass in response to pregnancy in combination with pre-existing beta-cell self-duplication.

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Scholefield, Janine. "RNAi based allele-specific silencing of the disease-causing gene in black South African patients with SCA7." Doctoral thesis, University of Cape Town, 2008. http://hdl.handle.net/11427/3104.

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Includes abstract.
Includes bibliographical references (leaves 118-133).
The polyglutamine disorders are a subgroup of inherited neurodegenerative disorders with a common mutation which confers toxicity via a polyglutamine tract in the protein leading ultimately to various forms of neurodegeneration. One of these disorders, spinocerebellar ataxia 7 (SCA7) exists at a higher frequency in South Africa, than elsewhere in the world, and a founder effect has been demonstrated in South Africa, such that every patient tested thus far is linked to a common ancestor. The manipulation of RNA interference (RNAi) has been used with increasing success to selectively knockdown the expression of disease-causing genes at the RNA level. Thus, the possibility of applying this method to SCA7 in South Africa was considered. However, the wild-type allele of ataxin-7 is likely to be necessary for cellular function therefore a form of allele-specific silencing is required, such as a SNP linked to the mutation.

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Watson, Lauren. "Novel cell models for the study of spinocerebellar ataxia type 7 pathogenesis and therapy in a South African patient cohort." Doctoral thesis, University of Cape Town, 2012. http://hdl.handle.net/11427/3108.

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Spinocerebellar ataxia type 7 (SCA7) is a dominantly-inherited neurodegenerative disease, resulting from a CAG trinucleotide repeat expansion in the ataxin-7 gene. The Ataxin-7 protein is known to play a role in transcriptional regulation through association with cellular histone acetylation complexes, and several studies have highlighted the role of transcriptional dysregulation, caused by the presence of mutant Ataxin-7, in the neuronal dysfunction that precedes the onset of disease symptoms.This study aimed to establish patient-derived cell models of SCA7, for use in the investigation of pathogenesis (with particular reference to transcriptional alterations), and in the evaluation of previously-developed therapies for the disease.The high prevalence of SCA7 in the South African population, as a result of a founder effect, makes this disease particularly amenable to allele-specific RNA interference (RNAi)-based therapy. Thus, this study also evaluated the feasibility of these cell models as a vehicle to test previously-developed RNAi therapeutics, using the alteration of expression of key transcripts as a phenotypic marker. SCA7 patient and control dermal fibroblasts were reprogrammed to pluripotency by retroviral transduction. The resultant induced pluripotent stem cell (iPSC) lines were characterised with respect to endogenous markers of pluripotency, differentiation capacity and transgene silencing. These cells were then subjected to neuronal differentiation, the success of which was confirmed by the expression of early neuronal markers.

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Shaboodien, Gasnat. "The pathogenesis of HIV-associated cardiomyopathy : a histological, virological, and genetic study." Doctoral thesis, University of Cape Town, 2008. http://hdl.handle.net/11427/3106.

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Mhandire, Kudakwashe. "Virus restriction gene variants and their possible role in neurocognitive function in children born to HIV-infected mothers." Master's thesis, University of Cape Town, 2012. http://hdl.handle.net/11427/3100.

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Host genetic variation is an important determinant of HIV infection, disease progression and HIV-associated neurocognitive deficits. However, there is no sufficient knowledge on the role of genetic variants especially among African populations. This study is focused on investigating variation in HIV/AIDS restriction genes; CCR2, CX3CR1, SDF1, RANTES, APOBEC3G and MBL2 and their possible role in HIV infection and neurocognitive function among children born to HIV infected mothers, recruited in Harare, Zimbabwe. A total of 116 children comprising of 73 perinatally exposed to HIV (34 who were born infected and 39 who were uninfected) and 43 unexposed controls were recruited in 2011(at ages 7-9 years) from a cohort of mother-baby pairs that has been followed up since 2002. The demographic characteristics of the recruited children were captured from their medical records. A McCarthy Scale of Children‟s Abilities (MSCA) was administered to determine each child‟s neurocognitive status. Genotyping for allelic variants was done using PCR-RFLP, SNaPshot® and Sanger DNA sequencing. Statistical analysis was carried out to determine association between genotypes, HIV status and neurocognitive function. The observation of different genetic variants or combinations of genotypes between the HIV-exposed and infected group and that of the HIV-exposed but uninfected group may be a pointer to critical pathways in differential HIV susceptibility. Exposure and infection with HIV is controlled by a multitude of genes/processes, thus, SNPs are unlikely to show statistically significant effects individually and may be more useful in a multifactorial model, as observed from comparisons of genotype combinations and haplotypes. The role of host genetic variation on neurocognitive function remains disputed but our observations suggest innate immune factors such as MBL2 may have a pronounced effect. Therefore, it may be possible to genotype for a suite of genes and use them as markers of either HIV susceptibility or neuro-developmental patterns.

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Kacharia, Fenil Rashmin. "Investigating the Origin and Functions of a Novel Small RNA in Escherichia coli." PDXScholar, 2016. http://pdxscholar.library.pdx.edu/open_access_etds/3106.

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Non-coding small RNAs (sRNAs) regulate various cellular processes in bacteria. They bind to a chaperone protein Hfq for stability and regulate gene expression by base-pairing with target mRNAs. Although the importance of sRNAs in bacteria has been well established, the mode of origination of novel sRNA genes is still elusive, mainly because the rapid rate of evolution of sRNAs obscures their original sources. To overcome this impediment, we identified a recently formed sRNA (EcsR2) in E. coli, and show that it evolved from a degraded bacteriophage gene. Our analyses also revealed that young sRNAs such as EcsR2 are expressed at low levels and evolve at a rapid rate in comparison to older sRNAs, thereby uncovering a novel process that potentially facilitates newly emerging (and probably mildly deleterious) sRNAs to persist in bacterial genomes. We also show that even though EcsR2 is slightly deleterious to E. coli, it could bind to Hfq and mRNAs to regulate the expression of several genes. Interestingly, while EcsR2 expression is induced by glucose, the expression of its putative targets are regulated by the transcription factor CRP in response to glucose, indicating that EcsR2 has been incorporated into the carbon regulatory network in E. coli. Collectively, this work provides evidence for the emergence, evolution and functions of a novel "young" sRNA in bacteria.

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Rayner, Brian L. "Investigation of the ethnic differences and genetics of salt sensivity and salt-sensitive hypertension in South Africa." Doctoral thesis, University of Cape Town, 2013. http://hdl.handle.net/11427/3102.

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Posthumus, Michael. "Genetic risk factors for anterior cruciate ligament ruptures." Doctoral thesis, University of Cape Town, 2009. http://hdl.handle.net/11427/3195.

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Includes abstract.
Includes bibliographical references (p. 197-215).
The primary aim of this thesis was to identify candidate genes that may be associated with ACL ruptures, and then use a genetic association approach following a case-control study design to identify specific sequence variants (single nucleotide polymorphisms, SNPs) within these candidate genes which may predispose individuals to ACL ruptures. Candidate genes (COL1A1, COL5A1 and COL12A1) were selected based on the biological function of their encoded proteins (type I, type V and type XII collagen respectively) within the basic structural and functional unit of ligaments, namely the collagen microfibril.

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Книги з теми "3105 Genetics"

Halloran, M. Elizabeth, and Seymour Geisser, eds. Statistics in Genetics. New York, NY: Springer New York, 1999. http://dx.doi.org/10.1007/978-1-4757-3103-3.

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Schöneich, Rüdiger. Arbeitsmedizinische Vorsorgeuntersuchungen nach Anhang VI Gentechnik-Sicherheitsverordnung: Technische Regeln für biologische Arbeitsstoffe TRBA 310 (Stand: Ausgabe April 1997). Edited by Bundesanstalt für Arbeitsschutz und Arbeitsmedizin (Germany). Dortmund: Bundesanstalt für Arbeitsschutz und Arbeitsmedizin, 1997.

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Ventura Soto, Sebastian, ed. Genetic Programming - New Approaches and Successful Applications. InTech, 2012. http://dx.doi.org/10.5772/3102.

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Частини книг з теми "3105 Genetics"

Petitpierre, Eduard. "Cytogenetics, Cytotaxonomy and Genetics of Chrysomelidae." In Biology of Chrysomelidae, 131–59. Dordrecht: Springer Netherlands, 1988. http://dx.doi.org/10.1007/978-94-009-3105-3_9.

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Vasconcellos-Neto, João. "Genetics of Chelymorpha cribraria, Cassidinae: colour patterns and their ecological meanings." In Biology of Chrysomelidae, 217–32. Dordrecht: Springer Netherlands, 1988. http://dx.doi.org/10.1007/978-94-009-3105-3_13.

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Fujiyama, Shizuo, and Kinji Arimoto. "Genetics of the two colour forms of Chrysolina aurichalcea (Mannerheim) (Coleoptera: Chrysomelidae) and their gene frequencies in two mountainous areas of central Honshu, Japan." In Biology of Chrysomelidae, 205–15. Dordrecht: Springer Netherlands, 1988. http://dx.doi.org/10.1007/978-94-009-3105-3_12.

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Huntingford, Felicity A., and Angela K. Turner. "Genetics." In Animal Conflict, 167–91. Dordrecht: Springer Netherlands, 1987. http://dx.doi.org/10.1007/978-94-009-3145-9_7.

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Mueller, Laurence D. "The DNA Typing Controversy and NRC II." In Statistics in Genetics, 1–23. New York, NY: Springer New York, 1999. http://dx.doi.org/10.1007/978-1-4757-3103-3_1.

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Dudoit, Sandrine, and Terence P. Speed. "Triangle Constraints for Sib-Pair Identity by Descent Probabilities under a General Multilocus Model for Disease Susceptibility." In Statistics in Genetics, 181–221. New York, NY: Springer New York, 1999. http://dx.doi.org/10.1007/978-1-4757-3103-3_10.

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Newton, M. A., T. R. Yeager, and C. A. Reznikoff. "A Statistical Analysis of Cancer Genome Variation." In Statistics in Genetics, 223–36. New York, NY: Springer New York, 1999. http://dx.doi.org/10.1007/978-1-4757-3103-3_11.

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Geisser, Seymour. "In Dispraise of Inconsistent DNA Relative Frequency Estimates." In Statistics in Genetics, 25–30. New York, NY: Springer New York, 1999. http://dx.doi.org/10.1007/978-1-4757-3103-3_2.

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Weir, B. S. "Quantifying the Genetic Structure of Populations with Application to Paternity Calculations." In Statistics in Genetics, 31–43. New York, NY: Springer New York, 1999. http://dx.doi.org/10.1007/978-1-4757-3103-3_3.

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Li, Wen-Hsiung, and Yun-Xin Fu. "Coalescent Theory and Its Applications in Population Genetics." In Statistics in Genetics, 45–79. New York, NY: Springer New York, 1999. http://dx.doi.org/10.1007/978-1-4757-3103-3_4.

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Тези доповідей конференцій з теми "3105 Genetics"

Корлэтяну, Людмила, Л. Мелиян, Анатолий Ганя, Виктория Михэилэ та Николай Ванькович. "Изучение потенциала хранения коллекционных образцов кукурузы (Zea mays L.) в условиях консервации ex situ". У VIIth International Scientific Conference “Genetics, Physiology and Plant Breeding”. Institute of Genetics, Physiology and Plant Protection, Republic of Moldova, 2021. http://dx.doi.org/10.53040/gppb7.2021.53.

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Seed storage potential (SP) is an important complex indicator characterizing the ability of collection samples to be conserved ex situ in a genetic bank. The accelerated aging test (AA test) was used to determine the storage potential of maize samples. The AA test for maize seeds was carried out at 43-44°C, 90-100% relative humidity, with an aging time of 96 hours. After the test, various morphophysiological parameters were determined on 8 collection maize samples: germination energy and seed germination, root length and quantity, wet and dry root biomass. The maize genotypes were divided into 3 groups according to various post-test indicators: group 1 (high SP) – genotypes P235; P 310; P243; group 2 (medium SP) – genotypes Р 402, Р 383, Р 465; group 3 (low SP) - genotypes Р 461 и Р 427. Thus, the use of AA test on maize collection samples based on morphophysiological characteristics allows gradation of genotypes by seed SP.

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Khalili, Nazanin, Yu-Chen Sun, Hani E. Naguib, and Roy H. Kwon. "Multiobjective Optimization of Trilayer Polypyrrole Conducting Polymer Actuators." In ASME 2013 Conference on Smart Materials, Adaptive Structures and Intelligent Systems. American Society of Mechanical Engineers, 2013. http://dx.doi.org/10.1115/smasis2013-3105.

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The main focus of this study is the optimization of a trilayer actuator comprising two layers of polypyrrole and a PVDF membrane core. Since the performance of these actuators is difficult to predict due to their mechanical and chemical properties, optimizing their output behavior such as the tip displacement and blocking force is of crucial importance for utilizing their full potentials and more significantly increasing predictability in their performance. For this purpose, two optimization techniques (multiobjective genetic algorithm and active set algorithm) have been carried out based on a developed mathematical model. Two nonlinear constrained equations representing the tip displacement and the blocking force are formulated and solved for a predetermined thickness of the PVDF core membrane. Both equations are subjected to a bound constraint and a nonlinear equality constraint. The output blocking force and the tip deformation act in a reverse manner and there is a trade-off between them. Accordingly, the results imply that there is no single solution to the problem and a range for each of the design variables should be determined so that there will be a sense of balance between the two objectives. Furthermore, the results obtained from the multiobjective optimization methodology have been verified experimentally.

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Tesiero, Raymond C., Nabil Nassif, Balakrishna Gokaraju, and Daniel Adrian Doss. "Intelligent Approaches for Modeling and Optimizing HVAC Systems’ Energy Use." In ASME 2017 11th International Conference on Energy Sustainability collocated with the ASME 2017 Power Conference Joint With ICOPE-17, the ASME 2017 15th International Conference on Fuel Cell Science, Engineering and Technology, and the ASME 2017 Nuclear Forum. American Society of Mechanical Engineers, 2017. http://dx.doi.org/10.1115/es2017-3105.

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Advanced energy management control systems (EMCS), or building automation systems (BAS), offer an excellent means of reducing energy consumption in heating, ventilating, and air conditioning (HVAC) systems while maintaining and improving indoor environmental conditions. This can be achieved through the use of computational intelligence and optimization. This paper evaluates model-based optimization processes (OP) for HVAC systems utilizing any computer algebra system (CAS), genetic algorithms and self-learning or self-tuning models (STM), which minimizes the error between measured and predicted performance data. The OP can be integrated into the EMCS to perform several intelligent functions achieving optimal system performance. The development of several self-learning HVAC models and optimizing the process (minimizing energy use) is tested using data collected from an actual HVAC system. Using this optimization process (OP), the optimal variable set points (OVSP), such as supply air temperature (Ts), supply duct static pressure (Ps), chilled water supply temperature (Tw), minimum outdoor ventilation, and chilled water differential pressure set-point (Dpw) are optimized with respect to energy use of the HVAC’s cooling side including the chiller, pump, and fan. The optimized set point variables minimize energy use and maintain thermal comfort incorporating ASHRAE’s new ventilation standard 62.1-2013. This research focuses primarily with: on-line, self-tuning, optimization process (OLSTOP); HVAC design principles; and control strategies within a building automation system (BAS) controller. The HVAC controller will achieve the lowest energy consumption of the cooling side while maintaining occupant comfort by performing and prioritizing the appropriate actions. The program’s algorithms analyze multiple variables (humidity, pressure, temperature, CO2, etc.) simultaneously at key locations throughout the HVAC system (pumps, cooling coil, chiller, fan, etc.) to reach the function’s objective, which is the lowest energy consumption while maintaining occupancy comfort.

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Feeley, Kyle P., Alexander W. Bray, Jessica L. Fetterman, David G. Westbrook, Larry W. Johnson, Robert A. Kesterson, Danny R. Welch, and Scott W. Ballinger. "Abstract A090: Mitochondrial genetics in the regulation of tumorigenicity and metastatic potential." In Abstracts: AACR Special Conference on Advances in Breast Cancer Research: Genetics, Biology, and Clinical Applications - October 3-6, 2013; San Diego, CA. American Association for Cancer Research, 2013. http://dx.doi.org/10.1158/1557-3125.advbc-a090.

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Ostrander, Elaine A. "Abstract IA19: Canine cancer genetics: What dogs can tell us about ourselves." In Abstracts: AACR Special Conference: The Translational Impact of Model Organisms in Cancer; November 5-8, 2013; San Diego, CA. American Association for Cancer Research, 2014. http://dx.doi.org/10.1158/1557-3125.modorg-ia19.

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Lovejoy, Leann A., Craig D. Shriver, and Rachel E. Ellsworth. "Abstract B51: Genetic etiology of ER low/HER2- breast tumors." In Abstracts: AACR Special Conference: Advances in Breast Cancer Research; October 7-10, 2017; Hollywood, CA. American Association for Cancer Research, 2018. http://dx.doi.org/10.1158/1557-3125.advbc17-b51.

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Belyakova, N. V., E. A. Vorobyova, and V. A. Sivolapov. "MOLECULAR-GENETIC ANALYSIS OF PHYTOPATHOGENS IN STANDS OF THE VORONEZH REGION." In Modern machines, equipment and IT solutions for industrial complex: theory and practice. Voronezh State University of Forestry and Technologies named after G.F. Morozov, Voronezh, Russia, 2021. http://dx.doi.org/10.34220/mmeitsic2021_29-33.

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This paper presents the results of DNA diagnostics of phytopathogens in the Voronezh region. DNA diagnostics was carried out step by step: isolation of total DNA from the sample by CTAB method, amplification of marker regions of phytopathogenic organisms using primers ITS1 and ITS4, electrophoretic separation of the obtained amplicons in 2% agarose gel followed by staining with ethidium bromide, determination of the nucleotide sequence of the amplified loci ABI Prism 310. The study identified the following plant diseases: Sphaeropsis sapinea, Rhizoctonia solani, Cladosporium herbarum. Along with this, we identified the Neocatenulostroma pathogen, which had not previously been found in the territories under its jurisdiction. This disease cannot be determined by phenological signs. The degree of infection by pathogens ranged from 15 to 40%. At present, the problem of protecting plants from diseases is especially urgent. It has been established that the greatest damage to forestry activities is caused by fungal and infectious diseases. At the same time, among phytopathogens, about 97% are fungal infections, 2% are bacterial and 1% are viral.

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Neththasinghe, N. A. S. A., E. D. C. T. Chandrasekara, E. M. S. Ekanayake, N. D. R. Madushan, W. M. U. K. Rathnayake, D. N. Sirisena, and L. D. B. Suriyagoda. "Nitrogen, Phosphorus and Potassium Concentrations in the Grains of Selected Rice Varieties in Sri Lanka." In The SLIIT International Conference on Engineering and Technology 2022. Faculty of Engineering, SLIIT, 2022. http://dx.doi.org/10.54389/xjet2641.

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Rice (Oryza sativa L.) is the staple food for Sri Lankans, and it serves as a key source of essential mineral elements. The variation of grain nutrient concentrations as affected by genetic factors (variety, grain color and age group) are not known, and those were tested in the current study. Total of 200 rice grain samples were collected using a stratified random sampling approach, representing all agro-climatic zones in Sri Lanka. Grain nitrogen (N), phosphorus (P) and potassium (K) concentrations were measured using Kjeldahl, Colorimetric, and General methods, respectively. Grain N P and K concentrations were significantly different among rice varieties (P<0.1). Grain N concentration varied between 4-19 mg g−1 . The highest grain N concentration was recorded in Bg 307 (14 mg g−1 ) while the lowest (i.e., < 10 mg g−1 ) in Bg 367, Bg 374, Bg 358, Bg 310 and Bg 379-2. Grain P concentration varied in the range 0.6- 1.7 mg g−1 . Grain P concentration in At 406 was the highest (1.6 mg g-1), followed by Bg 307, Bg 94-1, Bg 367 i.e., >1.3 mg g-1 and the lowest in Bg 403, Ld 365 and Bg 310 i.e., < 1 mg g−1 . Bg 357, Ld 365, Bg 406, Ld 368 and Bg 310 rice varieties showed significantly lower P concentration than other varieties (P<0.1) Grain N, P and K concentrations were similar among different age classes of rice varieties (P>0.05). Moreover, grain N and P concentrations between the red and white grain varieties were similar (P>0.05). However, varieties with white color grains had higher K concentration than in red rice varieties. There was a significant correlation between grain P and K concentrations (r =0.496, P<0.001). This information would be useful when selecting rice varieties with high and low nutritional qualities and implementing sustainable nutrient management practices in rice-based cropping systems in Sri Lanka. KEYWORDS: Age class, Nitrogen, Phosphorus, Potassium, Rice

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Fan, Huaping, and Kathryn B. Horwitz. "Abstract A130: Progesterone expands a hormone-dependent progenitor population in luminal breast cancers." In Abstracts: AACR Special Conference on Advances in Breast Cancer Research: Genetics, Biology, and Clinical Applications - October 3-6, 2013; San Diego, CA. American Association for Cancer Research, 2013. http://dx.doi.org/10.1158/1557-3125.advbc-a130.

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Christenson, Jessica L., and Kane E. Susan. "Abstract A003: Darpp-32 and t-Darpp are differentially expressed in normal and malignant mouse mammary tissue." In Abstracts: AACR Special Conference on Advances in Breast Cancer Research: Genetics, Biology, and Clinical Applications - October 3-6, 2013; San Diego, CA. American Association for Cancer Research, 2013. http://dx.doi.org/10.1158/1557-3125.advbc-a003.

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Звіти організацій з теми "3105 Genetics"

Zhang, Hongbin B., David J. Bonfil, and Shahal Abbo. Genomics Tools for Legume Agronomic Gene Mapping and Cloning, and Genome Analysis: Chickpea as a Model. United States Department of Agriculture, March 2003. http://dx.doi.org/10.32747/2003.7586464.bard.

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The goals of this project were to develop essential genomic tools for modern chickpea genetics and genomics research, map the genes and quantitative traits of importance to chickpea production and generate DNA markers that are well-suited for enhanced chickpea germplasm analysis and breeding. To achieve these research goals, we proposed the following research objectives in this period of the project: 1) Develop an ordered BAC library with an average insert size of 150 - 200 kb (USA); 2) Develop 300 simple sequence repeat (SSR) markers with an aid of the BAC library (USA); 3) Develop SSR marker tags for Ascochyta response, flowering date and grain weight (USA); 4) Develop a molecular genetic map consisting of at least 200 SSR markers (Israel and USA); 5) Map genes and QTLs most important to chickpea production in the U.S. and Israel: Ascochyta response, flowering and seed set date, grain weight, and grain yield under extreme dryland conditions (Israel); and 6) Determine the genetic correlation between the above four traits (Israel). Chickpea is the third most important pulse crop in the world and ranks the first in the Middle East. Chickpea seeds are a good source of plant protein (12.4-31.5%) and carbohydrates (52.4-70.9%). Although it has been demonstrated in other major crops that the modern genetics and genomics research is essential to enhance our capacity for crop genetic improvement and breeding, little work was pursued in these research areas for chickpea. It was absent in resources, tools and infrastructure that are essential for chickpea genomics and modern genetics research. For instance, there were no large-insert BAC and BIBAC libraries, no sufficient and user- friendly DNA markers, and no intraspecific genetic map. Grain sizes, flowering time and Ascochyta response are three main constraints to chickpea production in drylands. Combination of large seeds, early flowering time and Ascochyta blight resistance is desirable and of significance for further genetic improvement of chickpea. However, it was unknown how many genes and/or loci contribute to each of the traits and what correlations occur among them, making breeders difficult to combine these desirable traits. In this period of the project, we developed the resources, tools and infrastructure that are essential for chickpea genomics and modern genetics research. In particular, we constructed the proposed large-insert BAC library and an additional plant-transformation-competent BIBAC library from an Israeli advanced chickpea cultivar, Hadas. The BAC library contains 30,720 clones and has an average insert size of 151 kb, equivalent to 6.3 x chickpea haploid genomes. The BIBAC library contains 18,432 clones and has an average insert size of 135 kb, equivalent to 3.4 x chickpea haploid genomes. The combined libraries contain 49,152 clones, equivalent to 10.7 x chickpea haploid genomes. We identified all SSR loci-containing clones from the chickpea BAC library, generated sequences for 536 SSR loci from a part of the SSR-containing BACs and developed 310 new SSR markers. From the new SSR markers and selected existing SSR markers, we developed a SSR marker-based molecular genetic map of the chickpea genome. The BAC and BIBAC libraries, SSR markers and the molecular genetic map have provided essential resources and tools for modern genetic and genomic analyses of the chickpea genome. Using the SSR markers and genetic map, we mapped the genes and loci for flowering time and Ascochyta responses; one major QTL and a few minor QTLs have been identified for Ascochyta response and one major QTL has been identified for flowering time. The genetic correlations between flowering time, grain weight and Ascochyta response have been established. These results have provided essential tools and knowledge for effective manipulation and enhanced breeding of the traits in chickpea.

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Willis, C., F. Jorgensen, S. A. Cawthraw, H. Aird, S. Lai, M. Chattaway, I. Lock, E. Quill, and G. Raykova. A survey of Salmonella, Escherichia coli (E. coli) and antimicrobial resistance in frozen, part-cooked, breaded or battered poultry products on retail sale in the United Kingdom. Food Standards Agency, May 2022. http://dx.doi.org/10.46756/sci.fsa.xvu389.

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Frozen, breaded, ready-to-cook chicken products have been implicated in outbreaks of salmonellosis. Some of these outbreaks can be large. For example, one outbreak of Salmonella Enteritidis involved 193 people in nine countries between 2018 and 2020, of which 122 cases were in the UK. These ready-to-cook products have a browned, cooked external appearance, which may be perceived as ready-to-eat, leading to mishandling or undercooking by consumers. Continuing concerns about these products led FSA to initiate a short-term (four month), cross-sectional surveillance study undertaken in 2021 to determine the prevalence of Salmonella spp., Escherichia coli and antimicrobial resistance (AMR) in frozen, breaded or battered chicken products on retail sale in the UK. This study sought to obtain data on AMR levels in Salmonella and E. coli in these products, in line with a number of other FSA instigated studies of the incidence and nature of AMR in the UK food chain, for example, the systematic review (2016). Between the beginning of April and the end of July 2021, 310 samples of frozen, breaded or battered chicken products containing either raw or partly cooked chicken, were collected using representative sampling of retailers in England, Wales, Scotland and Northern Ireland based on market share data. Samples included domestically produced and imported chicken products and were tested for E. coli (including extended-spectrum beta-lactamase (ESBL)-producing, colistin-resistant and carbapenem-resistant E. coli) and Salmonella spp. One isolate of each bacterial type from each contaminated sample was randomly selected for additional AMR testing to determine the minimum inhibitory concentration (MIC) for a range of antimicrobials. More detailed analysis based on Whole Genome Sequencing (WGS) data was used to further characterise Salmonella spp. isolates and allow the identification of potential links with human isolates. Salmonella spp. were detected in 5 (1.6%) of the 310 samples and identified as Salmonella Infantis (in three samples) and S. Java (in two samples). One of the S. Infantis isolates fell into the same genetic cluster as S. Infantis isolates from three recent human cases of infection; the second fell into another cluster containing two recent cases of infection. Countries of origin recorded on the packaging of the five Salmonella contaminated samples were Hungary (n=1), Ireland (n=2) and the UK (n=2). One S. Infantis isolate was multi-drug resistant (i.e. resistant to three different classes of antimicrobials), while the other Salmonella isolates were each resistant to at least one of the classes of antimicrobials tested. E. coli was detected in 113 samples (36.4%), with counts ranging from <3 to >1100 MPN (Most Probable Number)/g. Almost half of the E. coli isolates (44.5%) were susceptible to all antimicrobials tested. Multi-drug resistance was detected in 20.0% of E. coli isolates. E. coli isolates demonstrating the ESBL (but not AmpC) phenotype were detected in 15 of the 310 samples (4.8%) and the AmpC phenotype alone was detected in two of the 310 samples (0.6%) of chicken samples. Polymerase Chain Reaction (PCR) testing showed that five of the 15 (33.3%) ESBL-producing E. coli carried blaCTX-M genes (CTX-M-1, CTX-M-55 or CTX-M-15), which confer resistance to third generation cephalosporin antimicrobials. One E. coli isolate demonstrated resistance to colistin and was found to possess the mcr-1 gene. The five Salmonella-positive samples recovered from this study, and 20 similar Salmonella-positive samples from a previous UKHSA (2020/2021) study (which had been stored frozen), were subjected to the cooking procedures described on the sample product packaging for fan assisted ovens. No Salmonella were detected in any of these 25 samples after cooking. The current survey provides evidence of the presence of Salmonella in frozen, breaded and battered chicken products in the UK food chain, although at a considerably lower incidence than reported in an earlier (2020/2021) study carried out by PHE/UKHSA as part of an outbreak investigation where Salmonella prevalence was found to be 8.8%. The current survey also provides data on the prevalence of specified AMR bacteria found in the tested chicken products on retail sale in the UK. It will contribute to monitoring trends in AMR prevalence over time within the UK, support comparisons with data from other countries, and provide a baseline against which to monitor the impact of future interventions. While AMR activity was observed in some of the E. coli and Salmonella spp. examined in this study, the risk of acquiring AMR bacteria from consumption of these processed chicken products is low if the products are cooked thoroughly and handled hygienically.

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