Results 31 to 40 of about 1,085 (147)

Divergent viral presentation among human tumors and adjacent normal tissues [PDF]

, 2016
We applied a newly developed bioinformatics system called VirusScan to investigate the viral basis of 6,813 human tumors and 559 adjacent normal samples across 23 cancer types and identified 505 virus positive samples with distinctive, organ system- and ...
Cao, Song, Chen, Feng, Chen, Ken, Ding, Li, Dipersio, John F, Gay, Hiram, Grubb III, Robert, Jayasinghe, Reyka, Johnson, Kimberly J, Niu, Beifang, Rader, Janet S, Wendl, Michael C, Wu, Song, Wyczalkowski, Matthew A, Wylie, Kristine, Xie, Mingchao, Ye, Kai   +16 more
core   +2 more sources

Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia. [PDF]

, 2017
Approximately one in every 200 mammalian proteins is anchored to the cell membrane through a glycosylphosphatidylinositol (GPI) anchor. These proteins play important roles notably in neurological development and function. To date, more than 20 genes have
Ajeawung, NF, Bateman, A, Bennett, CP, Berry-Kravis, E, Campeau, PM, Carroll, CJ, Chai, G, Diggle, C, Ehresmann, S, Fairbrother, L, Gleeson, JG, Hattingh, L, Ignatius, E, Isohanni, P, Johnson, CA, Kinoshita, T, Le Deist, F, Logan, CV, Lönnqvist, T, Murakami, Y, Nguyen, TTM, Parker, MJ, Parry, DA, Perry, MS, Reimschisel, T, Rosenfeld, JA, Rousseau, J, Sheridan, E, St-Denis, A, Tardif, J, Xia, F, Zaki, MS   +31 more
core   +1 more source

Genomic characterization between HER2‐positive and negative gastric cancer patients in a prospective trial

Cancer Medicine, 2023
Background We aimed to clarify the genomic characteristics of HER2‐positive and negative gastric cancer cases that potentially affect tumor progression and treatment response in a prospective trial.
Qingjiang Hu, Eiji Oki, Teppei Yamada, Tomomi Kashiwada, Hideto Sonoda, Masato Kataoka, Hirofumi Kawanaka, Yasushi Tsuji, Akitaka Makiyama, Yuichiro Nakashima, Mitsuhiko Ota, Yasue Kimura, Tomoharu Yoshizumi   +12 more
doaj   +1 more source

Clinical, genetic, and molecular characterization of hyperphosphatasia with mental retardation: a case report and literature review

Diagnostic Pathology, 2019
Background Hyperphosphatasia with mental retardation syndrome (HPMRS) is a recessive disorder characterized by high blood levels of alkaline phosphatase together with typical dysmorphic signs such as cleft palate, intellectual disability, cardiac ...
Layal Abi Farraj, Wassim Daoud Khatoun, Naji Abou Chebel, Victor Wakim, Katia Dawali, Michella Ghassibe-Sabbagh   +5 more
doaj   +1 more source

Utility of whole‐exome sequencing for patients with multiple congenital anomalies with or without intellectual disability/developmental delay in East Asia population

Molecular Genetics & Genomic Medicine, 2023
Background Congenital anomalies (CAs) with or without intellectual disability (ID)/developmental delay (DD) comprise a heterogeneous spectrum of diseases that affect approximately 3% of live births worldwide.
Rai‐Hseng Hsu, Chen‐Hao Lee, Yin‐Hsiu Chien, Shuan‐Pei Lin, Miao‐Zi Hung, Nai‐Chi Chen, Yi‐Lin Lin, Wuh‐Liang Hwu, Ni‐Chung Lee   +8 more
doaj   +1 more source

Ezh2-dCas9 and KRAB-dCas9 enable engineering of epigenetic memory in a context-dependent manner. [PDF]

, 2019
BackgroundRewriting of the epigenome has risen as a promising alternative to gene editing for precision medicine. In nature, epigenetic silencing can result in complete attenuation of target gene expression over multiple mitotic divisions.
Bates, Sofie L, Carter, Sakereh S, Farnham, Peggy J, Fink, Kyle D, Halmai, Julian, Nisson, Karly A, O'Geen, Henriette, Rhie, Suhn K, Segal, David J   +8 more
core   +2 more sources

Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes [PDF]

, 2016
Neurometabolic disorders are markedly heterogeneous, both clinically and genetically, and are characterized by variable neurological dysfunction accompanied by suggestive neuroimaging or biochemical abnormalities.
Abulhoul, L, Anderson, G, Beesley, C, Boustred, C, Broomfield, A, Clayton, PT, Cleary, M, Drury, S, Gissen, P, Grunewald, S, Jacques, TS, Lench, N, Mills, PB, Papandreou, A, Rahman, S, Reid, ES, Varadkar, SM, Wedatilake, Y, Yue, WW   +18 more
core   +2 more sources

Heritability enrichment of immunoglobulin G N-glycosylation in specific tissues [PDF]

, 2021
Genome-wide association studies (GWAS) have identified over 60 genetic loci associated with immunoglobulin G (IgG) N-glycosylation; however, the causal genes and their abundance in relevant tissues are uncertain.
Cao, Weijie, Guo, Xiuhua, Han, Jingdong J, Hou, Haifeng, Lang, Minglin, Li, Xingang, Manshu, Song, Tan, Xuerui, Wang, Hao, Wang, Wei, Wang, Youxin, Zhu, Yahong   +11 more
core   +2 more sources

Implications of lipid moiety in oligomerization and immunoreactivities of GPI-anchored proteins

Journal of Lipid Research, 2013
Glycosylphosphatidylinositol (GPI) enriches GPI-anchored proteins (GPI-AP) in lipid rafts by intimate interaction of its lipid moiety with sphingolipids and cholesterol.
Jihyoun Seong, Yetao Wang, Taroh Kinoshita, Yusuke Maeda   +3 more
doaj   +1 more source

Whole exome re-sequencing implicates CCDC38 and cilia structure and function in resistance to smoking related airflow obstruction [PDF]

, 2014
Chronic obstructive pulmonary disease (COPD) is a leading cause of global morbidity and mortality and, whilst smoking remains the single most important risk factor, COPD risk is heritable.
A Becker-Heck, A Lokke, A McKenna, AC Merveille, AD Lopez, Anders Malarstig, AV Segre, B Thomas, C Larsson, C Ma, C Tobacco, Genetics, CG Lee, Ciara Vangjeli, Corry-Anke Brandsma, D Bandah-Rozenfeld, David Nickle, DB Hancock, Don D. Sin, E Repapi, Edward J. Hollox, EK Silverman, Eleftheria Zeggini, F Aminuddin, F Verra, FM Williams, Greg Gibson, H Li, H Li, H Olbrich, Iain Kilty, Ian P. Hall, Ian Sayers, J Kim, J Yang, James P. Cook, JB Wilk, JB Wilk, JC Hogg, JL Asimit, JL McClay, JR Britton, JS Lucas, JZ Liu, K Hao, K Wang, KA Hunt, L Bartoloni, L Zuo, Louise V. Wain, M Lamontagne, M Obeidat, M Soler Artigas, M Soler Artigas, M Uhlen, Ma'en Obeidat, Martin D. Tobin, María Soler Artigas, MC Wu, Michael A. Portelli, MR Knowles, Nick R. G. Shrine, P Burkhard, PJ Castaldi, PL Leopold, Q Liu, RA Irizarry, S Guerra, Sally John, Scott A. Jelinsky, Shrina Patel, SM Ware, TA Manolio, TD Spector, TE Thorgeirsson, Tim D. Spector, TM McKeever, Tricia McKeever, V Kim, W Huang da, Y Liu, Yohan Bossé   +80 more
core   +5 more sources