scholarly journals Loss of NF2 defines a genetic subgroup of non‐ FOS ‐rearranged osteoblastoma

2020 ◽  
Vol 6 (4) ◽  
pp. 231-237
Author(s):  
Karim H Saba ◽  
Louise Cornmark ◽  
Jakob Hofvander ◽  
Linda Magnusson ◽  
Jenny Nilsson ◽  
...  
Keyword(s):  
Genetic Subgroup

scholarly journals Identification of Phytoplasmas Representing Multiple New Genetic Lineages from Phloem-Feeding Leafhoppers Highlights the Diversity of Phytoplasmas and Their Potential Vectors

Pathogens ◽  
2021 ◽  
Vol 10 (3) ◽  
pp. 352
Author(s):  
Wei Wei ◽  
Valeria Trivellone ◽  
Christopher H. Dietrich ◽  
Yan Zhao ◽  
Kristi D. Bottner-Parker ◽  
...  
Keyword(s):  
Host Range ◽  
Quantitative Polymerase Chain Reaction ◽  
Rflp Analysis ◽  
Natural Habitats ◽  
Genetic Lineages ◽  
Genetic Subgroup ◽  
Polymerase Chain ◽  
Phloem Feeding ◽  
Fresh Insight

Phytoplasmas are obligate transkingdom bacterial parasites that infect a variety of plant species and replicate in phloem-feeding insects in the order Hemiptera, mainly leafhoppers (Cicadellidae). The insect capacity in acquisition, transmission, survival, and host range directly determines the epidemiology of phytoplasmas. However, due to the difficulty of insect sampling and the lack of follow-up transmission trials, the confirmed phytoplasma insect hosts are still limited compared with the identified plant hosts. Recently, quantitative polymerase chain reaction (qPCR)-based quick screening of 227 leafhoppers collected in natural habitats unveiled the presence of previously unknown phytoplasmas in six samples. In the present study, 76 leafhoppers, including the six prescreened positive samples, were further examined to identify and characterize the phytoplasma strains by semi-nested PCR. A total of ten phytoplasma strains were identified in leafhoppers from four countries including South Africa, Kyrgyzstan, Australia, and China. Based on virtual restriction fragment length polymorphism (RFLP) analysis, these ten phytoplasma strains were classified into four distinct ribosomal (16Sr) groups (16SrI, 16SrIII, 16SrXIV, and 16SrXV), representing five new subgroups (16SrI-AO, 16SrXIV-D, 16SrXIV-E, 16SrXIV-F, and 16SrXV-C). The results strongly suggest that the newly identified phytoplasma strains not only represent new genetic subgroup lineages, but also extend previously undiscovered geographical distributions. In addition, ten phytoplasma-harboring leafhoppers belonged to seven known leafhopper species, none of which were previously reported insect vectors of phytoplasmas. The findings from this study provide fresh insight into genetic diversity, geographical distribution, and insect host range of phytoplasmas. Further transmission trials and screening of new potential host plants and weed reservoirs in areas adjacent to collection sites of phytoplasma harboring leafhoppers will contribute to a better understanding of phytoplasma transmission and epidemiology.

scholarly journals Complete Genome Sequence of a Rabies Virus Strain Isolated from a Brown Bear ( Ursus arctos ) in Primorsky Krai, Russia (November 2014)

2016 ◽  
Vol 4 (4) ◽  
Author(s):  
Michael Y. Shchelkanov ◽  
Andrei A. Deviatkin ◽  
Vasily Y. Ananiev ◽  
Vladimir G. Dedkov ◽  
German A. Shipulin ◽  
...  
Keyword(s):  
Rabies Virus ◽  
Genome Sequence ◽  
Virus Strain ◽  
Complete Genome Sequence ◽  
Complete Genome ◽  
Ursus Arctos ◽  
Brown Bear ◽  
Primorsky Krai ◽  
Genetic Subgroup ◽  
Rabies Virus Strain

We report here the complete genome sequence (GenBank KP997032) of rabies virus strain RABV/ Ursus arctos /Russia/Primorye/PO-01/2014, isolated in November 2014 from a brown bear ( Ursus arctos ) that attacked a person in Primorsky Krai (Russian Federation). This strain was clustered into the Eurasian genetic subgroup of genotype 1 (street rage).

scholarly journals Remitting Diabetes: A new genetic subgroup?

Diabetes Care ◽  
2004 ◽  
Vol 27 (7) ◽  
pp. 1836-1836 ◽  
Author(s):  
C. P. Burren ◽  
A. T. Hattersley
Keyword(s):  
Genetic Subgroup

scholarly journals Genetic subgroup of small ruminant lentiviruses that infects sheep homozygous for TMEM154 frameshift deletion mutation A4Δ53

2015 ◽  
Vol 46 (1) ◽  
pp. 22 ◽  
Author(s):  
Michael L Clawson ◽  
Reid Redden ◽  
Gennie Schuller ◽  
Michael P Heaton ◽  
Aspen Workman ◽  
...  
Keyword(s):  
Small Ruminant ◽  
Deletion Mutation ◽  
Frameshift Deletion ◽  
Genetic Subgroup ◽  
Small Ruminant Lentiviruses

scholarly journals Native <i>Dreissena</i> freshwater mussels in the Balkans: in and out of ancient lakes

2010 ◽  
Vol 7 (3) ◽  
pp. 4425-4461 ◽  
Author(s):  
T. Wilke ◽  
R. Schultheiß ◽  
C. Albrecht ◽  
N. Bornmann ◽  
S. Trajanovski ◽  
...  
Keyword(s):  
Native Species ◽  
Environmental Changes ◽  
Substantial Part ◽  
Ancient Lakes ◽  
Lake Ohrid ◽  
The Balkans ◽  
Limited Gene Flow ◽  
Genetic Subgroup ◽  
Biogeographical Regions ◽  
Time Frames

Abstract. The Balkans is a biogeographically highly diverse region and a worldwide hotspot of endemic freshwater diversity. A substantial part of this diversity is attributed to well recognized and potential ancient lakes in its southwestern part. Despite considerable research efforts, faunal relationships among those lakes are, however, not well understood. Therefore, genetic information from native representatives of the mussel genus Dreissena is used here to test the biogeographical zonation of the Southwestern Balkans, to relate demographic changes to environmental changes, to assess the degree of eco-insularity, to reconstruct their evolutionary history, and to explore the potential of native taxa for becoming invasive. Phylogeographical and population genetic analyses indicate that most populations studied belong to two native species: D. presbensis (incl. the distinct genetic subgroup from Lake Ohrid, D. ''stankovici'') and D. blanci. In addition, the first confirmed record of invasive D. polymorpha in the Southwestern Balkan is presented. The distribution of native Dreissena spp. is largely in concordance with the biogeographical zonations previously proposed based on fish data. Disagreement, however, consists regarding the assignment of the ancient lakes in the area to biogeographical regions. The data for Lake Ohrid are not conclusive. For Lake Prespa, however, a closer biogeographical connection to lakes of the Vardar region and possibly the Northern Ionian region is suggested. While reconstructing the evolutionary histories of Dreissena spp., signs of major demographic and spatial expansions were found. They started some 320 000–300 000 years ago in D. ''stankovici'', some 160 000–140 000 years ago in D. blanci, and some 110 000–70 000 years ago in D. presbensis. These time frames are discussed within the context of available paleogeological data for lakes Ohrid and Prespa. It is suggested that regional environmental changes may have had pronounced effects on the population histories of native Dreissena spp., though the high buffer capacity of Lake Ohrid may have mitigated these effects in D. ''stankovici''. In addition, local events acting upon individual lakes very likely had considerable effects on the demographic histories of Dreissena spp. as well. The observed patterns of immigration and emigration in and out of ancient lakes may suggest that limited gene flow supported the survival of small isolated subpopulations, while eco-insularity may have prevented excessive hybridization and sympatry of closely related taxa. As for the potential invasiveness of native Dreissena spp., the significant spatial expansions inferred are not human-mediated and all taxa still appear to be restricted to their native ranges. Of concern, however, is that D. presbensis and D. blanci today also occur in artificial water bodies, and that invasive D. polymorpha has reached the area.

Adjuvant Procarbazine, Lomustine, and Vincristine Improves Progression-Free Survival but Not Overall Survival in Newly Diagnosed Anaplastic Oligodendrogliomas and Oligoastrocytomas: A Randomized European Organisation for Research and Treatment of Cancer Phase III Trial

2006 ◽  
Vol 24 (18) ◽  
pp. 2715-2722 ◽  
Author(s):  
Martin J. van den Bent ◽  
Antoine F. Carpentier ◽  
Alba A. Brandes ◽  
Marc Sanson ◽  
Martin J.B. Taphoorn ◽  
...  
Keyword(s):  
Overall Survival ◽  
Controlled Trial ◽  
Progression Free Survival ◽  
Phase Iii ◽  
Newly Diagnosed ◽  
Free Survival ◽  
Oligodendroglial Tumors ◽  
Multicenter Randomized Controlled Trial ◽  
Genetic Subgroup ◽  
Pcv Chemotherapy

Purpose Anaplastic oligodendrogliomas are more responsive to chemotherapy than high-grade astrocytomas. We investigated, in a multicenter randomized controlled trial, whether adjuvant procarbazine, lomustine, and vincristine (PCV) chemotherapy improves overall survival (OS) in newly diagnosed patients with anaplastic oligodendrogliomas or anaplastic oligoastrocytomas. Patients and Methods The primary end point of the study was OS; secondary end points were progression-free survival (PFS) and toxicity. Patients were randomly assigned to either 59.4 Gy of radiotherapy (RT) in 33 fractions only or to the same RT followed by six cycles of standard PCV chemotherapy (RT/PCV). 1p and 19q deletions were assessed with fluorescent in situ hybridization. Results A total of 368 patients were included. The median follow-up time was 60 months, and 59% of patients have died. In the RT arm, 82% of patients with tumor progression received chemotherapy. In 38% of patients in the RT/PCV arm, adjuvant PCV was discontinued for toxicity. OS time after RT/PCV was 40.3 months compared with 30.6 months after RT only (P = .23). RT/PCV increased PFS time compared with RT only (23 v 13.2 months, respectively; P = .0018). Twenty-five percent of patients were diagnosed with combined 1p/19q loss; 74% of this subgroup was still alive after 60 months. RT/PCV did not improve survival in the subgroup of patients with 1p/19q loss. Conclusion Adjuvant PCV chemotherapy does not prolong OS but does increase PFS in anaplastic oligodendroglioma. Combined loss of 1p/19q identifies a favorable subgroup of oligodendroglial tumors. No genetic subgroup could be identified that benefited with respect to OS from adjuvant PCV.

Prognostic implication of KIT mutations in melanoma.

2013 ◽  
Vol 31 (15_suppl) ◽  
pp. 9049-9049
Author(s):  
Katherine G. Roth ◽  
Emily C. Zabor ◽  
Marta N. Colgan ◽  
Jedd D. Wolchok ◽  
Paul B. Chapman ◽  
...  
Keyword(s):  
Cox Regression ◽  
Chi Square ◽  
Risk Of Death ◽  
Disease Characteristics ◽  
Kaplan Meier ◽  
Increased Risk ◽  
History Of ◽  
Genetic Subgroup ◽  
Prognostic Implications

9049 Background: The natural history of BRAF and NRAS mutant (mut) melanoma (mel) has been described, but prognostic implications of KIT mut mel have not. Methods: We performed a single-center retrospective review of 180 patients (pts) enriched for mucosal, acral or chronic sun-damaged skin (CSD) mel and screened for KIT, BRAF, and NRAS mut from 4/07 - 4/10 as a part of a phase II imatinib study. Pt/disease characteristics were compared using the Kruskal-Wallis or Chi-square tests. Factors associated with outcomes were assessed by Kaplan-Meier methods and multivariable Cox regression. Results: Median age, 63.7 years; 54.4% male. Primary site: 40% mucosal, 29% acral, 22% CSD, 9% others. Mut rate: 18% KIT, 16% BRAF, 14% NRAS, 52% wild-type (wt). Pathologic subtype differed by genetic subgroup (p<.001) while age, gender, and stage did not (all p>0.05). 18/26 (69%) KIT mut pts received imatinib in the metastatic (met) setting; 6/18 received > 1 other KIT inhibitor. 3/25 (12%) BRAF mut pts received vemurafenib. 8/27 (30%) KIT mut, 4/27 (15%) BRAF mut, 6/20 (30%) NRAS mut, and 6/20 (30%) wt pts received ipilimumab. 149/180 (83%) pts developed mets at a median of 2.15 years (95% CI: 1.72, 2.72). Median follow-up (FU) of pts not developing mets was 3.91 yrs (range: 0.25, 14.34). Older age (HR: 1.02, 95% CI: 1.00, 1.03) and pathologic subtype (mucosal vs CSD HR: 1.70, 95% CI: 1.02, 2.84; non-CSD/unknown vs CSD HR: 2.05, 95% CI: 1.00, 4.21) were associated with increased risk of mets but not with time from mets to death. Of 149 pts who progressed, 123 (83%) died during FU. Median time from met to death was 1.21 years (95% CI: 0.91, 1.67). Median FU from time of mets among those alive at last FU was 2.53 yrs (range: 0.06, 6.85). Mut status including KIT mut was not associated with time to first met or time from met to death. Pts who received ipilimumab from time of first distant met had reduced risk of death (HR: 0.55, 95% CI: 0.36, 0.87) independent of mut status. No impact was observed with KIT inhibition. Conclusions: KIT mut status is not an independent predictor of time to mets or survival in pts with mets. Ipilimumab improved pt outcomes regardless of mut status. The lack of impact of KIT inhibitors is likely due to the heterogeneity of KIT mut in mel but does not preclude efficacy in appropriately selected pts.

scholarly journals Choline Intake Exceeding Current Dietary Recommendations Preserves Markers of Cellular Methylation in a Genetic Subgroup of Folate-Compromised Men

2010 ◽  
Vol 140 (5) ◽  
pp. 975-980 ◽  
Author(s):  
William Shin ◽  
Jian Yan ◽  
Christian M. Abratte ◽  
Francoise Vermeylen ◽  
Marie A. Caudill
Keyword(s):  
Dietary Recommendations ◽  
Genetic Subgroup ◽  
Choline Intake

scholarly journals T-Cell Acute Lymphoblastic Leukemia: Biomarkers and Their Clinical Usefulness

Genes ◽  
2021 ◽  
Vol 12 (8) ◽  
pp. 1118
Author(s):  
Valentina Bardelli ◽  
Silvia Arniani ◽  
Valentina Pierini ◽  
Danika Di Giacomo ◽  
Tiziana Pierini ◽  
...  
Keyword(s):  
Acute Lymphoblastic Leukemia ◽  
T Cell ◽  
Cell Cycle Progression ◽  
Lymphoblastic Leukemia ◽  
Protein Translation ◽  
Thymocyte Development ◽  
Ras Pathway ◽  
Cell Processes ◽  
Genetic Subgroup ◽  
Cell Acute Lymphoblastic Leukemia

T-cell acute lymphoblastic leukemias (T-ALL) are immature lymphoid tumors localizing in the bone marrow, mediastinum, central nervous system, and lymphoid organs. They account for 10–15% of pediatric and about 25% of adult acute lymphoblastic leukemia (ALL) cases. It is a widely heterogeneous disease that is caused by the co-occurrence of multiple genetic abnormalities, which are acquired over time, and once accumulated, lead to full-blown leukemia. Recurrently affected genes deregulate pivotal cell processes, such as cycling (CDKN1B, RB1, TP53), signaling transduction (RAS pathway, IL7R/JAK/STAT, PI3K/AKT), epigenetics (PRC2 members, PHF6), and protein translation (RPL10, CNOT3). A remarkable role is played by NOTCH1 and CDKN2A, as they are altered in more than half of the cases. The activation of the NOTCH1 signaling affects thymocyte specification and development, while CDKN2A haploinsufficiency/inactivation, promotes cell cycle progression. Among recurrently involved oncogenes, a major role is exerted by T-cell-specific transcription factors, whose deregulated expression interferes with normal thymocyte development and causes a stage-specific differentiation arrest. Hence, TAL and/or LMO deregulation is typical of T-ALL with a mature phenotype (sCD3 positive) that of TLX1, NKX2-1, or TLX3, of cortical T-ALL (CD1a positive); HOXA and MEF2C are instead over-expressed in subsets of Early T-cell Precursor (ETP; immature phenotype) and early T-ALL. Among immature T-ALL, genomic alterations, that cause BCL11B transcriptional deregulation, identify a specific genetic subgroup. Although comprehensive cytogenetic and molecular studies have shed light on the genetic background of T-ALL, biomarkers are not currently adopted in the diagnostic workup of T-ALL, and only a limited number of studies have assessed their clinical implications. In this review, we will focus on recurrent T-ALL abnormalities that define specific leukemogenic pathways and on oncogenes/oncosuppressors that can serve as diagnostic biomarkers. Moreover, we will discuss how the complex genomic profile of T-ALL can be used to address and test innovative/targeted therapeutic options.

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