Results 61 to 70 of about 517,834 (299)

Evaluation of D-loop hypervariable region I variations, haplogroups and copy number of mitochondrial DNA in Bangladeshi population with type 2 diabetes

Heliyon, 2021
The profound impact of mitochondrion in cellular metabolism has been well documented. Since type 2 diabetes (T2D) is a metabolic disorder, mitochondrial dysfunction is intricately linked with the disease pathogenesis.
Sajoy Kanti Saha, Abdullah Al Saba, Md. Hasib, Razoan Al Rimon, Imrul Hasan, Md. Sohrab Alam, Ishtiaq Mahmud, A.H.M. Nurun Nabi   +7 more
doaj   +1 more source

Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia. [PDF]

, 2020
Carriers of large recurrent copy number variants (CNVs) have a higher risk of developing neurodevelopmental disorders. The 16p11.2 distal CNV predisposes carriers to e.g., autism spectrum disorder and schizophrenia.
Abdellaoui, Abdel, Ames, David, Amunts, Katrin, Andersson, Michael, Armstrong, Nicola J, Bernard, Manon, Blackburn, Nicholas, Blangero, John, Boomsma, Dorret I, Bralten, Janita, Brattbak, Hans-Richard, Brodaty, Henry, Brouwer, Rachel M, Bülow, Robin, Calhoun, Vince, Caspers, Svenja, Cavalleri, Gianpiero, Chen, Chi-Hua, Cichon, Sven, Ciufolini, Simone, Corvin, Aiden, Crespo-Facorro, Benedicto, Curran, Joanne E, Dale, Anders M, Dalvie, Shareefa, Dazzan, Paola, de Geus, Eco JC, de Zubicaray, Greig I, de Zwarte, Sonja MC, Delanty, Norman, den Braber, Anouk, Desrivières, Sylvane, Doan, Nhat Trung, Donohoe, Gary, Draganski, Bogdan, Ehrlich, Stefan, Espeseth, Thomas, Fisher, Simon E, Franke, Barbara, Frouin, Vincent, Fukunaga, Masaki, Gareau, Thomas, Glahn, David C, Grabe, Hans, Groenewold, Nynke A, Gústafsson, Ómar, Haavik, Jan, Hashimoto, Ryota, Hehir-Kwa, Jayne Y, Heinz, Andreas, Hellard, Stephanie Le, Hibar, Derrek P, Hillegers, Manon HJ, Hoffmann, Per, Holleran, Laurena, Hottenga, Jouke-Jan, Hulshoff, Hilleke E, Håberg, Asta, Ikeda, Masashi, Jahanshad, Neda, Jernigan, Terry, Jockwitz, Christiane, Johansson, Stefan, Jonsdottir, Gudrun A, Jönsson, Erik G, Kahn, Rene, Kaufmann, Tobias, Kelly, Sinead, Kikuchi, Masataka, Knowles, Emma EM, Kolskår, Knut K, Kwok, John B, Leu, Costin, Liu, Jingyu, Lundervold, Arvid, Lundervold, Astri J, Martin, Nicholas G, Martin-Brevet, Sandra, Mather, Karen, Mathias, Samuel R, McCormack, Mark, McMahon, Katie L, McRae, Allan, Milaneschi, Yuri, Moreau, Clara, Morris, Derek, Mothersill, David, Murray, Robin, Mühleisen, Thomas W, Nordvik, Jan E, Nyberg, Lars, Olde Loohuis, Loes M, Ophoff, Roel, Paus, Tomas, Pausova, Zdenka, Penninx, Brenda, Peralta, Juan M, Pike, Bruce, Prieto, Carlos, Sønderby, Ida E   +99 more
core   +1 more source

Increased DNA Copy Number Variation Mosaicism in Elderly Human Brain. [PDF]

, 2018
Aging is a complex process strongly determined by genetics. Previous reports have shown that the genome of neuronal cells displays somatic genomic mosaicism including DNA copy number variations (CNVs).
Grinberg, Lea T, Leite, Renata, Pasqualucci, Carlos Augusto, Pearson, Peter, Rosenberg, Carla, Suemoto, Claudia K, Suemoto, Claudia K, Villela, Darine   +7 more
core   +1 more source

Feasibility and Safety of High‐Dose Proton Re‐Irradiation in Recurrent Pediatric Central Nervous System Tumors: A Single‐Institution Retrospective Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Purpose Pediatric central nervous system (CNS) tumors often recur despite multimodality therapy. Although re‐irradiation (re‐RT) has historically been limited by concerns for severe late toxicities, modern techniques have renewed interest in this approach. Proton therapy provides dosimetric advantages that may enable curative re‐treatment with
Jin‐Ho Song, Jonathan Baron, Carlos Chavez Perez, Sidharth Ramesh, Jane Minturn, Kavita A. Desai, Amish C. Shah, Jean M. Belasco, Kristina A. Cole, Michael J. Fisher, Phillip B. Storm, Peter M. Madsen, Goldie Kurtz, Robert A. Lustig, Christine Hill‐Kayser, Michael J. LaRiviere   +15 more
wiley   +1 more source

A computational framework discovers new copy number variants with functional importance. [PDF]

PLoS ONE, 2011
Structural variants which cause changes in copy numbers constitute an important component of genomic variability. They account for 0.7% of genomic differences in two individual genomes, of which copy number variants (CNVs) are the largest component.
Samprit Banerjee, Derek Oldridge, Maria Poptsova, Wasay M Hussain, Dimple Chakravarty, Francesca Demichelis   +5 more
doaj   +1 more source

Characterizing genomic alterations in cancer by complementary functional associations. [PDF]

, 2016
Systematic efforts to sequence the cancer genome have identified large numbers of mutations and copy number alterations in human cancers. However, elucidating the functional consequences of these variants, and their interactions to drive or maintain ...
A Azzalini, A Kraskov, A Kraskov, A Singh, A Young, AA Margolin, AJ Butte, Amir Reza Alizad-Rahvar, Andrew Aguirre, Arthur Liberzon, Aviad Tsherniak, B Luo, Barbara A Weir, C Ding, C Scholl, CA Miller, CD Correa, Chet Birger, Chiara Romualdi, CJ Vaske, Cory M Johannessen, D Feng, D Guardavaccaro, D Malhotra, D Nijhawan, D Pandey, DA Barbie, Daniel DiCara, David A Barbie, David J Konieczkowski, DD Shao, Diane D Shao, DP Hollern, DP Minde, DV Foster, EH Linfoot, Eliezer M Van Allen, F Vandin, F Vandin, Francisca Vazquez, G Ciriello, GA Darbellay, Gabriela Alexe, Gabriele Sales, Gad Getz, GM DeNicola, H Joe, H Peng, H Zou, Heidi Greulich, HW Cheung, J Barretina, J Lin, J Rosenbluh, JA McCubrey, Jesse S Boehm, Jill P Mesirov, JN Weinstein, Jong Wook Kim, Joseph Rosenbluh, JP Brunet, JS Boehm, L Chin, L Chin, L Waldron, Levi A Garraway, LM Solis, M Meyerson, Mahmoud Ghandi, Masoud Ardakani, MB Raeder, MD Leiserson, ME Abazeed, Michael Noble, Mohamed E Abazeed, MS Lawrence, MS Lawrence, Olga B Botvinnik, Omar Abudayyeh, P Tamayo, Pablo Tamayo, Peter S Hammerman, R Beroukhim, R Firestein, R Steuer, Rameen Beroukhim, S Pendyala, S Sheather, SS Brar, T Valenta, Travis I Zack, William C Hahn, Y Gu, Yashaswi Shrestha   +93 more
core   +1 more source

Defining Roles in Pediatric Palliative Care: Perspectives From Oncology and Palliative Care Teams

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Early integration of pediatric palliative care (PPC) is associated with improved symptom management, quality of life, and healthcare utilization for children with cancer. Despite this, variation persists in how PPC is understood, operationalized, and integrated within pediatric oncology programs. In particular, ambiguity surrounding
Leeat Granek, Lori Wiener, Stephanie Veldhuijzen van Zanten, Donna Johnston, Fyeza Hasan, Adam Rapoport, Nathasha Datoo, Kimberley Widger, Sumit Gupta, Karen Fergus, Anthony K. C. Chan, Alisha Kassam, Emily McCullogh, Dave Lysecki   +13 more
wiley   +1 more source

CNValidatron: accurate and efficient validation of PennCNV calls using computer vision

BMC Bioinformatics
Background Large, rare copy number variants (CNVs) are a main source of genetic variation in the genome and are important in both evolution and disease risk.
Simone Montalbano, G. Bragi Walters, Gudbjorn F. Jonsson, Jesper R. Gådin, Thomas Werge, Daniel F. Gudbjartsson, Hreinn Stefansson, Andrés Ingason   +7 more
doaj   +1 more source

Two Faces of NOTCH1 in Childhood Lymphoblastic T‐Cell Neoplasia: Prognostic Divergence of Mutational and Structural Aberrations

Pediatric Blood &Cancer, EarlyView.
ABSTRACT In pediatric patients, T‐cell lymphoblastic lymphoma (T‐LBL) survival exceeds 80%. Relapse remains associated with limited curative options. Frontline treatment is largely extrapolated from T‐cell acute lymphoblastic leukemia (T‐ALL) treatment, reflecting the ongoing debate, whether both entities represent distinct diseases or variants within ...
Marie C. Heider, Amelie Alfert, Marc Hotfilder, Birgit Burkardt, Marcel te Vrugt   +4 more
wiley   +1 more source

Sensitive and accurate detection of copy number variants using read depth of coverage [PDF]

, 2009
Methods for the direct detection of copy number variation (CNV) genome-wide have become effective instruments for identifying genetic risk factors for disease. The application of next-generation sequencing platforms to genetic studies promises to improve
Yoon, S., Xuan, Z., Makarov, V., Ye, K., Sebat, J.   +4 more
core   +1 more source