Results 71 to 80 of about 1,695,985 (356)

Identification of CNVs and their association with the meat traits of Hanwoo

Journal of Animal Reproduction and Biotechnology, 2023
Background: Copy number variation (CNV) can be identified using next-generation sequencing and microarray technologies, the research on the analysis of its association with meat traits in livestock breeding has significantly increased in recent years ...
Chan Mi Bang, Khaliunaa Tseveen, Gwang Hyeon Lee, Gil Jong Seo, Hong Sik Kong   +4 more
doaj   +1 more source

Total copy number variation as a prognostic factor in adult astrocytoma subtypes

Acta Neuropathologica Communications, 2019
Since the discovery that IDH1/2 mutations confer a significantly better prognosis in astrocytomas, much work has been done to identify other molecular signatures to help further stratify lower-grade astrocytomas and glioblastomas, with the goal of ...
K. Mirchia, A. Sathe, Jamie M. Walker, Yelena Fudym, Kristyn Galbraith, M. Viapiano, R. J. Corona, M. Snuderl, Chao Xing, K. Hatanpaa, T. Richardson   +10 more
semanticscholar   +1 more source

Autophagy in cancer and protein conformational disorders

FEBS Letters, EarlyView.
Autophagy plays a crucial role in numerous biological processes, including protein and organelle quality control, development, immunity, and metabolism. Hence, dysregulation or mutations in autophagy‐related genes have been implicated in a wide range of human diseases.
Sergio Attanasio
wiley   +1 more source

Genome-wide copy number variation study in anorectal malformations [PDF]

, 2013
Anorectal malformations (ARMs, congenital obstruction of the anal opening) are among the most common birth defects requiring surgical treatment (2-5/10 000 live-births) and carry significant chronic morbidity.
Baum, L, Chan, IHY, Chang, T, Cheng, G, Cherny, SS, Chung, HY, Cui, L, Garcia-Barcelo, MM, Kwan, P, Lau, YL, Liu, JJ, Liu, X, Lui, VCH, Miao, X, Ng, CL, Ngan, ESW, Ren, YQ, Sham, PC, So, MT, Sun, LD, Sun, XB, Tam, PKH, Tang, CSM, Tang, WK, Wang, HL, Wang, RY, Wong, EHM, Wong, KKY, Xia, JL, Yang, W, Yin, XY, Yip, BHK, Yuan, ZW, Zhang, R, Zhang, SW, Zhang, XJ, Zuo, XB   +36 more
core   +1 more source

Copy number variation of the beta-defensin genes in Europeans: no supporting evidence for association with lung function, chronic obstructive pulmonary disease or asthma [PDF]

, 2014
Lung function measures are heritable, predict mortality and are relevant in diagnosis of chronic obstructive pulmonary disease (COPD). COPD and asthma are diseases of the airways with major public health impacts and each have a heritable component ...
Abujaber, Razan, Ahuja, Sunil K., Beardsmore, Caroline, Chappell, Sally, Dogaru, Cristian M., Gaillard, Erol A., Guetta-Baranes, Tamar, Hall, Ian P., Hollox, Edward J., Kalsheker, Noor, Kuehni, Claudia E., McKeever, Tricia M., Odenthal-Hesse, Linda, Sayers, Ian, Tobin, Martin D., Wain, Louise V.   +15 more
core   +9 more sources

RETROSPECTIVE ANALYSIS OF ALPHA GLOBIN COPY NUMBER VARIATIONS DETERMINED BY MLPA IN THE TRAKYA REGION

İstanbul Tıp Fakültesi Dergisi, 2021
Objective: Alpha thalassemia is a common type of hemoglobinopathy that occurs as a result of deletions or point mutations in the alpha globin gene cluster.
Selma Demir, Hakan Gürkan, Damla Eker, Sinem Yalçıntepe, Emine İkbal Atlı, Engin Atlı   +5 more
doaj   +1 more source

The copy number variation landscape of congenital anomalies of the kidney and urinary tract

Nature Genetics, 2018
Congenital anomalies of the kidney and urinary tract (CAKUT) are a major cause of pediatric kidney failure. We performed a genome-wide analysis of copy number variants (CNVs) in 2,824 cases and 21,498 controls.
M. Verbitsky, R. Westland, Alejandra Perez, K. Kiryluk, Qingxue Liu, Priya Krithivasan, A. Mitrotti, D. Fasel, Ekaterina Batourina, M. Sampson, M. Bodria, Max Werth, Charlly Kao, Jeremiah Martino, Valentina Capone, A. Vivante, S. Shril, B. H. Kil, M. Marasà, Jun Y. Zhang, Y. Na, T. Lim, D. Ahram, P. Weng, E. Heinzen, A. Carrea, G. Piaggio, L. Gesualdo, Valeria Manca, Giuseppe Masnata, M. Gigante, D. Cusi, C. Izzi, F. Scolari, J. V. van Wijk, M. Saraga, D. Santoro, G. Conti, P. Zamboli, Hope I. White, D. Drożdż, K. Zachwieja, M. Miklaszewska, M. Tkaczyk, D. Tomczyk, A. Krakowska, P. Sikora, T. Jarmoliński, M. Borszewska-Kornacka, Robert Pawluch, M. Szczepańska, P. Adamczyk, M. Mizerska-Wasiak, Grażyna Krzemień, Agnieszka Szmigielska, M. Zaniew, M. G. Dobson, John M. Darlow, P. Puri, D. Barton, S. Furth, B. Warady, Z. Gucev, V. Lozanovski, V. Tasic, I. Pisani, L. Allegri, Lida M Rodas, J. Campistol, C. Jeanpierre, S. Alam, P. Casale, Craig S. Wong, Fangming Lin, D. Miranda, E. A. Oliveira, A. C. Simões-e-Silva, J. Barasch, B. Levy, N. Wu, F. Hildebrandt, G. Ghiggeri, A. Latos-Bieleńska, A. Materna-Kiryluk, Feng Zhang, H. Hakonarson, V. Papaioannou, C. Mendelsohn, A. Gharavi, S. Sanna-Cherchi   +89 more
semanticscholar   +1 more source

A stepwise emergence of evolution in the RNA world

FEBS Letters, EarlyView.
How did biological evolution emerge from chemical reactions? This perspective proposes a gradual scenario of self‐organization among RNA molecules, where catalytic feedback on random mixtures plays the central role. Short oligomers cross‐ligate, and self‐assembly enables heritable variations. An event of template‐externalization marks the transition to
Philippe Nghe
wiley   +1 more source

DNA Copy Number Variation in Autism [PDF]

, 2009
Autism is a childhood neurodevelopmental and psychiatric disorder that involves the impairment of social skills and communication. The genetics behind the inheritance and susceptibility of this disorder are not well known but have recently been studied ...
Adur, Ashwin
core  

A Poisson hierarchical modelling approach to detecting copy number variation in sequence coverage data. [PDF]

, 2013
BACKGROUND: The advent of next generation sequencing technology has accelerated efforts to map and catalogue copy number variation (CNV) in genomes of important micro-organisms for public health.
Assefa, Samuel A, Campino, Susana G, Clark, Taane G, Pain, Arnab, Sepúlveda, Nuno, Sutherland, Colin J   +5 more
core   +1 more source