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Journal articles on the topic '3105 Genetics'

Author: Grafiati

Published: 10 January 2023

Last updated: 28 January 2023

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1

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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Michelsen, B., A. P. Diamantopoulos, D. M. Soldal, H. B. Hammer, A. Kavanaugh, and G. Haugeberg. "THU0426 Achilles Enthesitis Defined by Ultrasound Is Not Associated To Clinical Enthesitis in Patients with Psoriatic Arthritis." Annals of the Rheumatic Diseases 75, Suppl 2 (June 2016): 343.3–344. http://dx.doi.org/10.1136/annrheumdis-2016-eular.3105.

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12

Bikker, A., C. R. Willis, M. Dankers, A. A. Kruize, K. M. van der Wurff-Jacobs, J. W. Bijlsma, F. P. Lafeber, and J. A. van Roon. "SAT0158 IL-7 and IL-7 receptor blockade selectively inhibit TLR7-induced B cell activation in primary sjögren’s syndrome." Annals of the Rheumatic Diseases 71, Suppl 3 (June 2013): 525.2–525. http://dx.doi.org/10.1136/annrheumdis-2012-eular.3105.

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Atzeni, F., S. Galaverna, D. Colombo, L. Gianturco, L. Boccassini, P. Sarzi-Puttini, and M. Turiel. "AB0568 Can Speckle Tracking Echocardiography Dectect Left Subclinal Ventricular Dysfunction in Patients with Primary Sjogren Syndrome?" Annals of the Rheumatic Diseases 74, Suppl 2 (June 2015): 1090.1–1090. http://dx.doi.org/10.1136/annrheumdis-2015-eular.3105.

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Baser, O., A. Burkan, E. Baser, R. Koselerli, E. Ertugay, and A. Altinbas. "AB0783 Medical costs associated with rheumatoid arthritis in turkey: an analysis of real-world data." Annals of the Rheumatic Diseases 72, Suppl 3 (June 2013): A1029.3—A1030. http://dx.doi.org/10.1136/annrheumdis-2013-eular.3105.

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He, Jing, M. David Irwin, and YaPing Zhang. "Motilin and ghrelin gene experienced episodic evolution during primitive placental mammal evolution." Science China Life Sciences 53, no. 6 (June 2010): 677–82. http://dx.doi.org/10.1007/s11427-010-3105-6.

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Kausel, Leonie, Anja Boneberger, Mario Calvo, and Katja Radon. "Childhood Asthma and Allergies in Urban, Semiurban, and Rural Residential Sectors in Chile." Scientific World Journal 2013 (2013): 1–4. http://dx.doi.org/10.1155/2013/937935.

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While rural living protects from asthma and allergies in many countries, results are conflicting in Latin America. We studied the prevalence of asthma and asthma symptoms in children from urban, semiurban, and rural sectors in south Chile. A cross-sectional questionnaire study was conducted in semiurban and rural sectors in the province of Valdivia (n=559) using the ISAAC (International Study of Asthma and Allergies in Childhood) questionnaire. Results were compared to prevalence in urban Valdivia (n=3105) by using data from ISAAC III study. Odds ratios (+95% confidence intervals) were calculated. No statistical significant differences were found for asthma ever and eczema symptoms stratified by residential sector, but a gradient could be shown for current asthma and rhinoconjunctivitis symptoms with urban living having highest and rural living having lowest prevalence. Rural living was inversely associated in a statistical significant way with current asthma (OR: 0.4; 95% CI: 0.2–0.9) and rhinoconjunctivitis symptoms (OR: 0.3; 95% CI: 0.2–0.7) in logistic regression analyses. Rural living seems to protect from asthma and respiratory allergies also in Chile, a South American country facing epidemiological transition. These data would be improved by clinical studies of allergic symptoms observed in studied sectors.

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Mutua, Agnes M., Kelvinson Mwangi, Amina Abubakar, and Sarah H. Atkinson. "Effects of iron intake on neurobehavioural outcomes in African children: a systematic review and meta-analysis of randomised controlled trials." Wellcome Open Research 6 (November 24, 2021): 181. http://dx.doi.org/10.12688/wellcomeopenres.16931.2.

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Background: Iron deficiency and developmental delay are common in African children. While experimental studies indicate an important role of iron in brain development, effects of iron on child development remain unclear. We aimed to evaluate the effects of iron supplementation or fortification on neurobehavioural outcomes in African children and further summarise these effects in children living in non-African countries for comparison. Methods: We searched PubMed, EMBASE, PsycINFO, Scopus and Cochrane Library for studies published up to 22nd October 2021. We included randomised controlled trials (RCTs) evaluating effects of iron supplementation or fortification on neurobehavioural outcomes in children. Due to heterogeneity in study methods, we analysed all studies qualitatively and in secondary analyses only seven RCTs with 11 arms were meta-analysed. Results: We identified 2231 studies and included 35 studies (n=9988) in the systematic review. Only five studies (n=1294) included African children while 30 (n=8694) included children living in non-African countries. Of the five African studies, two (n=647) reported beneficial effects of iron supplementation on neurobehavioural outcomes in anaemic children, while three (n=647) found no beneficial effects. Of 30 studies in children living in non-African countries, 10 (n=3105) reported beneficial effects of iron supplementation or fortification on neurobehavioural outcomes, seven (n=786) reported beneficial effects only in children who had iron deficiency, iron deficiency anaemia or anaemia while 13 (n=4803) reported no beneficial effects. Conclusions: There are few studies in African children despite the high burden of iron deficiency and developmental delay in this population. Evidence on the effects of iron supplementation on neurobehavioural outcomes remains unclear and there is need for further well-powered studies evaluating these effects in African populations. PROSPERO registration: CRD42018091278 (20/03/2018)

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Hustin, Lucie, Jason Cosgrove, Rob de Boer, and Leïla Perié. "3101 – HEMATOPOIESIS IN NUMBERS." Experimental Hematology 111 (2022): S95. http://dx.doi.org/10.1016/j.exphem.2022.07.157.

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Hafthorsdottir, R., A. Gunnarsdottir, T. Love, G. Gröndal, and B. Gudbjornsson. "OP0213 THE IMPACT OF TNFΑ INHIBITORS ON GLUCOCORTICOIDS USE AMONG PATIENTS WITH ARTHRITIS." Annals of the Rheumatic Diseases 79, Suppl 1 (June 2020): 132.2–133. http://dx.doi.org/10.1136/annrheumdis-2020-eular.2103.

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Background:Glucocorticoid steroid (GC) use among patients with arthritis is common. The introduction of TNFα inhibitors (TNFi) has been a breakthrough in the treatment of arthritis leading to remission for many patients. However, there is scarce information on the impact of TNFi on the use of GC among patients with inflammatory joint diseases.Objectives:To explore oral GC use in patients with rheumatoid arthritis (RA), psoriatic arthritis (PsA), and axial spondyloarthritis (axSpA) before and after the initiation of TNFi therapy. Furthermore, to evaluate if patients on long term GC treatment were receiving active preventive osteoporosis treatment and how treatment with TNFi affected the use of topical steroids in patients with PsA.Methods:Clinical data on patients with RA, PsA and axSpA who initiated TNFi therapy with etanercept, infliximab, adalimumab or golimumab for the first time between 2005-2015 was collected from the ICEBIO registry. ICEBIO is a nationwide registry on all patients treated with biologics for rheumatologic disorders in Iceland. The use of oral GC, topical steroids and bisphosphonates was collected from the Icelandic Prescription Medicines Registry (IPMR) for a period of four years, two years before and after the initiation of TNFi. Medication use was then evaluated by counting the number of individuals receiving a medication in a given year, the total number of prescriptions, and the defined daily dose (DDD). Five controls were randomly selected from IPMR and matched on age, sex and time frame.Results:621 patients with RA, PsA or axSpA received 2630 prescriptions (4.2 prescription per patient; 3105 controls received 1337 prescriptions or 0.4 prescription per individual) for GC during the study period. GC use varied between patient groups (Figure 1). The total GC use (DDD) doubled over the two-year period leading up to TNFi treatment but decreased sharply after the initiation of TNFi. The number of individuals on GC decreased by one third after initiating TNFi therapy and the majority of those who continued GC treatment were patients with RA (Figure 1). Of those patients on long term GC treatment (>7.5 mg/day for three months) 38% were receiving bone protective therapy against corticosteroid induced osteoporosis. The use of topical steroids decreased by half among PsA patients and one third discontinued the treatment after initiating TNFi (Figure 2).Conclusion:TNFi therapy does impact GC use among patients with arthritides, however a large portion of RA patients are still on GC two years after initiating TNFi therapy. Better osteoporosis prophylaxis and treatment is warranted for those patients on long term GCDisclosure of Interests:Rebekka Hafthorsdottir: None declared, Anna Gunnarsdottir: None declared, Thorvardur Love: None declared, Gerdur Gröndal: None declared, Björn Gudbjornsson Speakers bureau: Novartis and Amgen

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Leppert, G., R. McDevitt, S. C. Falco, T. K. Van Dyk, M. B. Ficke, and J. Golin. "Cloning by gene amplification of two loci conferring multiple drug resistance in Saccharomyces." Genetics 125, no. 1 (May 1, 1990): 13–20. http://dx.doi.org/10.1093/genetics/125.1.13.

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Abstract Yeast DNA fragments that confer multiple drug resistance when amplified were isolated. Cells containing a yeast genomic library cloned in the high copy autonomously replicating vector, YEp24, were plated on medium containing cycloheximide. Five out of 100 cycloheximide-resistant colonies were cross-resistant to the unrelated inhibitor, sulfometuron methyl, due to a plasmid-borne resistance determinant. The plasmids isolated from these resistant clones contained two nonoverlapping regions in the yeast genome now designated PDR4 and PDR5 (for pleiotropic drug resistant). PDR4 was mapped to chromosome XIII, 31.5 cM from LYS7 and 9 cM from the centromere. PDR4 was mapped to chromosome XV between ADE2 and H1S3. Genetic analysis demonstrated that at least three tightly linked genes (PDR5, PDR2 and SMR3) that mediate resistance to inhibitors are located in this region. Insertion mutations in the either PDR4 or PDR5 genes are not lethal, but the insertion in PDR5 results in a drug-hypersensitive phenotype.

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Arnett, K. L., E. J. Adams, and P. Parham. "On the sequence of A*3101." Tissue Antigens 47, no. 5 (May 1996): 428–30. http://dx.doi.org/10.1111/j.1399-0039.1996.tb02580.x.

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Stoddard, F. L., and I. H. M. H. B. Herath. "Genetic analysis of partial rust resistance in faba beans." Australian Journal of Agricultural Research 52, no. 1 (2001): 73. http://dx.doi.org/10.1071/ar00003.

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Five parent populations of faba bean, differing in reaction to rust disease, were crossed to prepare a complete diallel of F1 hybrids. Detached leaves of the parents and F1 hybrids were challenged with 3 Australian rust populations and symptom development was monitored from 11 to 16 days after inoculation, using a disease score related to the percentage of leaf area covered with pustules, and a nominal value for pustule size. Additive gene action was very important in determining the response to rust disease, with ILB 3025 and ILB 3107 having similar low disease scores, Fiord and Acc 327 having high values, and Icarus an intermediate value. Cytoplasmic effects were also critical, with ILB 3025 having the most susceptible cytoplasm and ILB 3107 the most resistant, and this was most readily detected in terms of the size of the pustule. Heterosis conferred slightly lower disease scores and dominance was significant but of lesser importance than additive gene action, particularly for disease score. Rust population host gene action interactions were significant by the end of the observation period, but were much smaller than the main effects. The hybrid ILB 3107 ILB 3025 had less disease development than either parent, indicating the potential for developing more resistant cultivars using transgressive segregation. ILB 3107 shows particular promise for use as a female line as it had both nuclear and cytoplasmic factors to contribute to the development of resistant cultivars.

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Sgueglia, Joanne B., Stephana Geiger, and Jeffrey Davis. "Precision studies using the ABI Prism�3100 Genetic Analyzer for forensic DNA analysis." Analytical and Bioanalytical Chemistry 376, no. 8 (August 1, 2003): 1247–54. http://dx.doi.org/10.1007/s00216-003-1998-7.

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Szymanowicz, J., M. Murawski, T. Schwarz, and P. Bartlewski. "39 Nanowater enhances cryoprotective effects of glycerol during ram semen freezing." Reproduction, Fertility and Development 32, no. 2 (2020): 145. http://dx.doi.org/10.1071/rdv32n2ab39.

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It was suggested that unique physicochemical properties of nanowater (NW, water declustered in the cold plasma generator), such as a low dielectric constant and high diffusivity, might ameliorate ram semen freezing by improving bioavailability of extender constituents. This study was undertaken to evaluate the effects of NW added to glycerol-containing semen extenders on the characteristics of frozen-thawed ram semen. A total of 18 ejaculates collected from 6 Olkuska breed rams during the breeding season were divided into six equal portions. The ejaculates were frozen in the modified fructose-skimmed milk-egg yolk Kareta extender containing 3 or 7% glycerol and diluted in deionized water (control extenders; Aqua Purificata, Prolab; C3% and C7%, respectively) or NW (declustered for 15min (NW15’) or 30min (NW30’); Nanotechnology Systems) to a final concentration of 800×106 spermatozoa/mL. They were placed in 0.25-mL plastic straws and frozen in liquid nitrogen. The two declusterization times were chosen on the basis of previous laboratory tests and fertility trials yielding the best results in terms of semen quality post-thawing and pregnancy rates after AI. All semen samples were evaluated for sperm concentration, progressive motility (Sperm Class Analyzer), and morphological defect rates (Nikon Eclipse 80i microscope, Nikon Corp.). In addition, the ex situ survival time at 37°C and extender content of alanine transferase, alkaline phosphatase, and aspartate aminotransferase were measured, along with the proportions of apoptotic, necrotic, and live spermatozoa determined post-thawing with flow cytometry (BD Accuri™ C6 Plus, Becton Dickinson) at 0 and 1h post-thawing. Data were analysed by one-way analysis of variance and Holm-Sidak method using SigmaPlot statistical software (Systat Software Inc.). The proportion of spermatozoa with mid-piece defects was significantly (P<0.05) reduced in NW15’-3% compared with C3% (1.3±0.3% vs. 4.0±06%; mean±s.e.m.). The proportion of necrotic spermatozoa 1h after thawing was greater (P<0.05) in C7% compared with NW30’-7% (20.7±0.4% vs. 17.6±1.0%), whereas the proportions of live cells detected immediately (0h) and 1h after thawing were greater (P<0.05) in NW30’-7% than in C30’ (0 h: 54.0±0.6% vs. 50.4±1.2%; 1 h: 54.4±1.2% vs. 59.2±0.4%, respectively). The mean survival time of spermatozoa was greater (P<0.05) in extenders dissolved in NW30’compared with their respective controls (NW30’-3% vs. C3%: 215±4min vs. 189±6 min; and NW30’-7% vs. C7%: 242±8min vs. 217±4min, respectively). Alkaline phosphatase concentrations in extenders prepared with NW30’ were lower (P<0.05) compared with the control groups (NW30’-3% vs. C3%: 3105±231IU vs. 4490±458 IU; and NW30’-7% vs. C7%: 2516±128IU vs. 3956±263IU, respectively). Our results indicate that NW significantly improves the effects of glycerol on ram sperm viability post-thawing, with the reduction in sperm necrosis/overall enhancement of sperm survivability being greater with 7% compared with 3% of glycerol in semen extender.

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Ullah, Abul H. J., and Donna M. Gibson. "Extracellular Phytase (E. C. 3.1.3.8) fromAspergillus FicuumNRRL 3135: Purification and Characterization." Preparative Biochemistry 17, no. 1 (March 1987): 63–91. http://dx.doi.org/10.1080/00327488708062477.

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Zapater, Ismael G., Abul H. J. Ullah, and Rudy J. Wodzinski. "Extracellular α Galactosidase (E.C. 3.2.1.22) fromAspergillus FicuumNRRL 3135 Purification and Characterization." Preparative Biochemistry 20, no. 3-4 (September 1990): 263–96. http://dx.doi.org/10.1080/00327489008050201.

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Kemta Lekpa, F., A. Tidjong Kamkui, H. Namme Luma, and S. P. Choukem. "AB0869 CLINICAL FEATURES OF WOMEN WITH KNEE OSTEOARTHRITIS AT DIAGNOSIS IN CAMEROON, SUB-SAHARAN AFRICA." Annals of the Rheumatic Diseases 79, Suppl 1 (June 2020): 1740.3–1741. http://dx.doi.org/10.1136/annrheumdis-2020-eular.5187.

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Background:To the best of our knowledge, no study has been done in sub-Saharan Africa among those who suggest that knee osteoarthritis is more severe in women.Objectives:To assess differences in features of knee osteoarthritis between female and male patients in a sub-Saharan Cameroonian population.Methods:A cross-sectional study from December 2018 to April 2019 conducted in the Rheumatology Unit of the General Hospital, Douala, Cameroon. We included patients with a recent diagnosis of knee osteoarthritis according to 1986 ACR criteria and Kellgren–Lawrence radiographic grading ≥ 2. Sociodemographic, clinical, radiographic and therapeutic data at diagnosis were collected. Assessment of the functional disability was done using the Lequesne algofunctional index, more adapted to Africans than WOMAC index. We compared these data between women and men. A p <0.05 was considered to be statistically significant.Results:We screened 168 patients with the diagnosis of knee osteoarthritis. Seventeen patients with Kellgren-Lawrence radiographic grading at 1 were excluded. Then, we included 151 patients (120 women and 31 men) in the final analysis. The main characteristics of patients at diagnosis are summarized in Table 1. Knee osteoarthritis in women was characterized by a low level of education, a low financial income, and a high frequency of obesity. There was no difference between women and men for age at diagnosis, place of residence, intensity of pain, functional disability, number of compartments of the affected knee, Kellgren-Lawrence radiographic grading, and treatment previously received.Table 1.Main characteristics of patients with knee osteoarthritis at diagnosisParametersTotal populationMean (SD)MaleMean (SD)FemaleMean (SD)pAge (years) Mean age59.88(12.8)61.48(14.38)59.46(12.41)0.43 <4010(6.6)4(12.9)6(5)0.24 40-6587(57.6)14(45.16)73(60.83)0.17 >6554(35.8)13(41.94)41(34.17)0.55Residence Rural37(24.5)10(32.26)27(22.5)0.37 Urban114(75.5)21(67.74)93(77.5)0.37Level of education Primary40(26.5)3(9.68)37(30.83)0.03 Secondary66(43.7)9(29.03)57(47.5)0.09 University35(23.2)19(61.29)16(13.33)0.0000 Illiterate10(6.6)010(8.33)0.20Duration of OA (months)38(44.9)39.7(58.92)37.59(40.92)0.81Pain VAS pain (mean)5.2(1.6)5(1.34)5.34(1.68)0.29 Mild pain25(16.56)4(12.9)21(17.5)0.73 Moderate pain94(62.25)24(77.42)70(58.33)0.08 Severe pain32(21.19)3(9.68)29(24.17)0.13 Joint effusion28(18.5)4(12.90)24(20)0.51BMI Mean BMI32.42(6.25)26.89(4.05)31.33(6.41)0.0003 Normal30(19.87)11(35.48)19(15.83)0.02 Overweight46(30.46)14(45.16)32(26.07)0.07 Obesity65(49.67)6(19.35)69(57.5)0.003Lequesne index Mean Lequesne index8.6(2.4)8.32(2.53)8.77(2.4)0.35 Moderate handicap40(26.49)9(29.03)31(25.83)0.89 Severe handicap64(42.38)12(32.71)52(43.33)0.79 Very severe handicap37(24.5)8(25.81)29(24.17)1Kellgren-Lawrence grading Grade 281(53.6)19(61.29)62(51.67)0.44 Grade 355(36.4)9(29.03)46(38.33)0.45 Grade 415(10)3(9.68)12(10)1Compartment involved 118(11.92)6(19.35)12(10)0.26 228(18.54)4(12.9)24(20)0.51 3105(69.6)21(67.74)84(70)0.98 Medial femoro-tibial128(84.77)25(80.65)103(85.83)0.66 Lateral femoro-tibial117(77.48)23(74.19)94(78.33)0.80 Femoro-patellar144(95.36)29(93.55)115(95.83)0.95Conclusion:Apart from obesity, characteristics of knee osteoarthritis seems to be similar in women and men at diagnosis in Cameroon.Disclosure of Interests:None declared

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CAI, KANGTAO, HUAYOU CHEN, XINYU HENG, LINGYU KANG, JUNMING WU, CHENXI LU, and XIAOYU LIANG. "Optimization of Small Peptide Feed from Milk Thistle Residue by Synergistic Fermentation of Multiple Strains and Proteases." Romanian Biotechnological Letters 26, no. 6 (December 30, 2021): 3102–9. http://dx.doi.org/10.25083/rbl/26.6/3102-3109.

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In order to improve the utilization rate of the milk thistle residue, this study used the synergistic fermentation of multiple strains and proteases to increase the small peptide content of the fermented feed produced by the milk thistle residue. Taking the small peptide content of the milk thistle residue fermented feed as an indicator, the optimal fermentation process was obtained by single-factor optimization experiments and the response surface methodology. The optimal fermentation process was as follows: fermentation time of 7 days, inoculum size of 15%, inoculation ratio of aerobic strains: anaerobic strains = 1: 2, solid-state fermentation water content of 66%, fermentation temperature of 36℃, and amount of protease was 0.25% acid protease+0.25% bromelain. Under the above process, the small peptide content of the fermented feed from milk thistle residue was greatly improved to 57.86%. These results inferred that the added proteases were beneficial to the growth of fermentative microorganisms, the secretion of protease and the increase of the small peptide content.

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TAKIZAWA, Junpei, Akira NAKAJIMA, Kouhei WADA, and Masayuki NAKAMURA. "3102 Optimum Design of Thin Film Structure of Organic Light Emitting Diode by Genetic Algorithms." Proceedings of Design & Systems Conference 2010.20 (2010): _3102–1_—_3102–2_. http://dx.doi.org/10.1299/jsmedsd.2010.20._3102-1_.

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Kubaczka, Caroline, Edroaldo Lummertz Da Rocha, Wade Sugden, Mohamad Najia, Trista North, and George Daley. "3100 – A SINGLE CELL ATLAS OF MOUSE HEMATOPOIETIC ORGANS." Experimental Hematology 88 (August 2020): S69. http://dx.doi.org/10.1016/j.exphem.2020.09.113.

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Vandersall, A. S., R. G. Cameron, C. J. Nairn, G. Yelenosky, and Rudy J. Wodzinski. "Identification, Characterization, and Partial Purification of Glucoamylase fromAspergillus Niger(SynA. Ficuum) NRRL 3135." Preparative Biochemistry 25, no. 1-2 (February 1995): 29–55. http://dx.doi.org/10.1080/10826069508010106.

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Lee, Sung Ho, Jong Eun Park, Chang-Seok Ki, Seung-Jung Park, Young Keun On, Kyoung-Min Park, and June Soo Kim. "Genetic Analysis of Cardiac Syncope-Related Genes in Korean Patients with Recurrent Neurally Mediated Syncope." Journal of Cardiovascular Development and Disease 9, no. 8 (August 14, 2022): 265. http://dx.doi.org/10.3390/jcdd9080265.

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Neurally mediated syncope (NMS) is a common clinical problem. The underlying genetic factors of NMS remain controversial. We hypothesized that cardiac syncope-related genes may contribute to NMS in patients with previous frequent syncopal episodes and/or a family history of syncope. A total of 54 consecutive patients diagnosed with NMS were prospectively enrolled between 2013 and 2016. Inclusion criteria were more than five syncopal episodes with a family history of syncope (n = 17) or more than five syncopal episodes with no family history of syncope (n = 37). Ninety-eight cardiac syncope-related genes (channelopathy: 43 genes, cardiomyopathy: 50 genes, primary pulmonary hypertension: 5 genes) were screened by exome sequencing. All identified variants were classified according to the standards and guidelines by the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Of the 54 patients, 17 patients (31.5%) had a family history of syncope. Two patients (3.7%) had pathogenic and likely pathogenic variants (PV/LPV) in cardiac syncope-related genes TTN and MYH7. We investigated genetic variation in patients with frequent NMS with a positive family history of syncope in Korea. PV/LPVs in genes related to cardiomyopathy were associated with recurrent NMS in Korean patients. Closer follow-up of these patients might be needed.

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Hayashi, Eiji, Natsuyo Aoyama, and David W. Still. "Quantitative trait loci associated with lettuce seed germination under different temperature and light environments." Genome 51, no. 11 (November 2008): 928–47. http://dx.doi.org/10.1139/g08-077.

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Temperature and light are primary environmental cues affecting seed germination. To elucidate the genetic architecture underlying lettuce ( Lactuca sativa L.) seed germination under different environmental conditions, an F8 recombinant inbred line population consisting of 131 families was phenotyped for final germination and germination rate. Seeds were imbibed in water at 20 °C under continuous red light (20-Rc), 20 °C continuous dark (20-Dc), 31.5 °C continuous red light (31.5-Rc), 31.5 °C continuous dark (31.5-Dc), or 20 °C far-red light for 24 h followed by continuous dark (20-FRc-Dc). Thirty-eight quantitative trait loci (QTL) were identified from two seed maturation environments: 10 for final germination and 28 for germination rate. The amount of variation attributed to an individual QTL ranged from 9.3% to 17.2% and from 5.6% to 26.2% for final germination and germination rate, respectively. Path analysis indicated that factors affecting germination under 31.5-Rc or 31.5-Dc are largely the same, and these appear to differ from those employed under 20-FRc-Dc. QTL and path analysis support the notion of common and unique factors for germination under diverse temperature and light regimes. A highly significant effect of the seed maturation environment on subsequent germination capacity under environmental stress was observed.

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Kesser, J., M. Korst, C. Koch, F. J. Romberg, J. Rehage, U. Müller, M. Schmicke, et al. "Corrigendum to “Different milk feeding intensities during the first 4 weeks of rearing dairy calves: Part 2: Effects on the metabolic and endocrine status during calfhood and around the first lactation” (J. Dairy Sci. 100:3109–3125)." Journal of Dairy Science 100, no. 5 (May 2017): 4195. http://dx.doi.org/10.3168/jds.2017-100-5-4195.

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Satoh, K., and Y. Itoh. "Forensic ABO blood grouping by 4 SNPs analyses using an ABI PRISM® 3100 genetic analyzer." International Congress Series 1288 (April 2006): 49–51. http://dx.doi.org/10.1016/j.ics.2005.08.034.

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Izui, Kazuhiro, Shinji Nishiwaki, and Masataka Yoshimura. "Initial Design of Cross-section Using Genetic Algorithms." Proceedings of Design & Systems Conference 2002.12 (2002): 384–87. http://dx.doi.org/10.1299/jsmedsd.2002.12.384.

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Neary, Gráinne, Chris Vink, Patricia Heyn, Joana Campos, Jasmin Paris, Christine Young, Kamil Kranc, Elaine Dzierzak, and Andrew Jackson. "3106 – A GAIN OF FUNCTION MUTATION IN DNMT3A IMPAIRS HAEMATOPOIESIS." Experimental Hematology 100 (August 2021): S93. http://dx.doi.org/10.1016/j.exphem.2021.12.323.

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CHUN, P. K., G. F. SENSABAUGH, and N. A. VEDROS. "Genetic Relationships among Neisseria Species Assessed by Comparative Enzyme Electrophoresis." Microbiology 131, no. 11 (November 1, 1985): 3105–15. http://dx.doi.org/10.1099/00221287-131-11-3105.

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Detwiler, Michelle M., Timothy J. Hamp, and A. Latif Kazim. "DNA sequencing using the liquid polymer POP-7™ on an ABI Prism® 3100 Genetic Analyzer." BioTechniques 36, no. 6 (June 2004): 932–33. http://dx.doi.org/10.2144/04366bm01.

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Martinez-Høyer, Sergio, Yu Deng, Jeremy Parker, Jihong Jiang, Roderick Docking, Angela Mo, Nadia Gharaee, et al. "3108 – MOLECULAR MECHANISMS OF LENALIDOMIDE RESISTANCE IN DEL(5Q) MYELODYSPLASTIC SYNDROMES." Experimental Hematology 88 (August 2020): S72. http://dx.doi.org/10.1016/j.exphem.2020.09.120.

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Ventura, Telma, Jan Frayne, Mariangela Wilson, Antonella Fidanza, Lesley Forrester, Shyam Jose, Alisha May, and Helen Taylor. "3135 – KLF1-RELATED PROTEINS IN ERYTHROBLAST ISLAND MACROPHAGES - A PROTEOMIC STUDY." Experimental Hematology 100 (August 2021): S108. http://dx.doi.org/10.1016/j.exphem.2021.12.352.

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Jardine, Laura, Rachel Botting, Issac Goh, Antony Rose, Simone Webb, Mariana Quiroga Londoño, Emily Stephenson, et al. "3107 – MULTI-ORGAN FUNCTIONS OF YOLK SAC DURING HUMAN EARLY DEVELOPMENT." Experimental Hematology 111 (2022): S98. http://dx.doi.org/10.1016/j.exphem.2022.07.163.

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Hardy, John. "The genetic causes of neurodegenerative diseases." Journal of Alzheimer's Disease 3, no. 1 (March 5, 2001): 109–16. http://dx.doi.org/10.3233/jad-2001-3115.

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Samuels, Mark E., Sophie Regnault, and John R. Hutchinson. "Evolution of the patellar sesamoid bone in mammals." PeerJ 5 (March 21, 2017): e3103. http://dx.doi.org/10.7717/peerj.3103.

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The patella is a sesamoid bone located in the major extensor tendon of the knee joint, in the hindlimb of many tetrapods. Although numerous aspects of knee morphology are ancient and conserved among most tetrapods, the evolutionary occurrence of an ossified patella is highly variable. Among extant (crown clade) groups it is found in most birds, most lizards, the monotreme mammals and almost all placental mammals, but it is absent in most marsupial mammals as well as many reptiles. Here, we integrate data from the literature and first-hand studies of fossil and recent skeletal remains to reconstruct the evolution of the mammalian patella. We infer that bony patellae most likely evolved between four and six times in crown group Mammalia: in monotremes, in the extinct multituberculates, in one or more stem-mammal genera outside of therian or eutherian mammals and up to three times in therian mammals. Furthermore, an ossified patella was lost several times in mammals, not including those with absent hindlimbs: once or more in marsupials (with some re-acquisition) and at least once in bats. Our inferences about patellar evolution in mammals are reciprocally informed by the existence of several human genetic conditions in which the patella is either absent or severely reduced. Clearly, development of the patella is under close genomic control, although its responsiveness to its mechanical environment is also important (and perhaps variable among taxa). Where a bony patella is present it plays an important role in hindlimb function, especially in resisting gravity by providing an enhanced lever system for the knee joint. Yet the evolutionary origins, persistence and modifications of a patella in diverse groups with widely varying habits and habitats—from digging to running to aquatic, small or large body sizes, bipeds or quadrupeds—remain complex and perplexing, impeding a conclusive synthesis of form, function, development and genetics across mammalian evolution. This meta-analysis takes an initial step toward such a synthesis by collating available data and elucidating areas of promising future inquiry.

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Chaudhary, Prachi, Ms Priyanka, and Manoj Duhan. "Frequency Response Optimization of Saw Filter using Canonical Genetic Algorithm." International Journal of Computer Applications 26, no. 6 (July 31, 2011): 45–49. http://dx.doi.org/10.5120/3104-4263.

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Fraser, F. Clarke. "An intelligent person's guide to genetics. By Adrian Woolfson. London, Duckworth Overlook, 2004. 240 p." American Journal of Medical Genetics Part A 140A, no. 1 (2005): 102–3. http://dx.doi.org/10.1002/ajmg.a.31051.

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Suresh, Kadiyala Naga, and Gabriyal M. Lal. "Assessment of genetic diversity through morphological characterization in chickpea (Cicer arietinum L.)." INTERNATIONAL JOURNAL OF PLANT SCIENCES 16, no. 2 (July 15, 2021): 109–17. http://dx.doi.org/10.15740/has/ijps/16.2/109-117.

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The experiment was conducted at Field Experimentation Centre, Department of Genetics and Plant Breeding, Sam Higginbottom University of Agriculture Technology and Sciences, Prayagraj during Rabi 2019-2020 in Randomized Block Design with three replications. The investigation was prevailed to examine the 40 genotypes along with one check (PUSA 362) to study the genetic variability, genetic advance, heritability and Genetic diversity. Analysis of variance exhibited significant differences among the genotypes for all the characters indicating presence of good amount of variability among the genotypes for all the characters used in study. high GCV and PCV were observed for biological yield (31.5 and 39.47). High heritability (>80%) was recorded for character Days to 50% flowering (89%) followed by days to maturity (87%), days to 50% flowering (86%), seed weight (82%). Higher genetic advance was observed for no. of seeds per plant (39.64) followed by no. of pods per plant (31.77), biological yield (21.07), days to 50% maturity (11.41) and plant height (11.03). D2 values showed adequate genetic diversity among the genotypes studied. On the basis of D2 values all the genotypes were grouped into five clusters with varying number of genotypes in the clusters. The maximum genetic distance (D) of 54.46 was found between the clusters IV and II. Greater the divergence between the 2 clusters, wider is that the genetic diversity within the genotypes. The cluster mean for days to 50 per cent flowering varied from 84.00(V) to 108 (III). The cluster mean for days to 50 per cent pod setting varied from 86.67 (IV) to 120.67 (II). The cluster mean for 100 seed weight was maximum in (cluster II) 24.33 and minimum in (cluster IV) 20. The cluster mean for harvest index was maximum in (cluster II) 56.71 and minimum in (cluster V) 38.56. The cluster mean for biological yield was maximum in (cluster III) 53.13 and minimum in (cluster II) 36.2. The cluster mean for seed yield was maximum in (cluster III) 20.93 and minimum in (cluster V) 13.2. Therefore, the genotypes present in these clusters can be used for future hybridization.

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Butler, John M., Eric Buel, Federica Crivellente, and Bruce R. McCord. "Forensic DNA typing by capillary electrophoresis using the ABI Prism 310 and 3100 genetic analyzers for STR analysis." ELECTROPHORESIS 25, no. 1011 (June 2004): 1397–412. http://dx.doi.org/10.1002/elps.200305822.

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DeBerardinis, Ralph J., John L. Goodier, Eric M. Ostertag, and Haig H. Kazazian. "Rapid amplification of a retrotransposon subfamily is evolving the mouse genome." Nature Genetics 20, no. 3 (November 1998): 288–90. http://dx.doi.org/10.1038/3104.

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Olson, Oakley, Fernando Calero-Nieto, Berthold Göttgens, Xiaonan Wang, and Emmanuelle Passegué. "3108 – METABOLIC ADAPTATION IN HEMATOPOIETIC STEM AND PROGENITOR CELLS DURING EMERGENCY MYELOPOIESIS." Experimental Hematology 100 (August 2021): S94. http://dx.doi.org/10.1016/j.exphem.2021.12.325.

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