Results 91 to 100 of about 357,319 (349)

ZW4864‐mediated inhibition of the β‐catenin/BCL9/BCL9L complex reveals therapeutic potential in bladder cancer

Molecular Oncology, EarlyView.
BCL9 and BCL9L drive bladder cancer progression by enhancing β‐catenin signaling, promoting proliferation, migration, invasion, and organoid growth. Genetic depletion of BCL9(L) suppresses malignant phenotypes, while pharmacological disruption of the β‐catenin/BCL9(L) complex with ZW4864 inhibits canonical Wnt signaling and tumor‐associated cellular ...
Roland Kotolloshi, Mandy Berndt‐Paetz, Eileen Lerner, Gregoire Najjar, Anca Azoitei, Krishna Pal Singh, Shailendra Kumar Gupta, Olaf Wolkenhauer, Cagatay Günes, Otmar Huber, Marc‐Oliver Grimm, Daniel Steinbach   +11 more
wiley   +1 more source

Whole Exome Sequencing Analysis Identifies Mutations in LRP5 in Indian Families with Familial Exudative Vitreoretinopathy [PDF]

, 2016
Background: Familial exudative vitreoretinopathy (FEVR, OMIM 133780) is a severe inherited retinal disorder characterized by incomplete retinal vascular development and neovascularization. At least five genes have been reported to be associated with FEVR,
Qu, C, Zhu, XJ, Li, SJ, Di, YA, Zhu, XJ (reprint author), Sichuan Prov Peoples Hosp, 32 First Ring Rd West 2, Chengdu 610072, Sichuan, Peoples R China., Sundaresan, P, Liu, YQ, Tai, ZF, Li, YF, Yang, YM, Jiang, ZL, Zhu, XJ (reprint author), Hosp Univ Elect Sci & Technol China, Sch Med, Sichuan Prov Key Lab Human Dis Gene Study, 32 First Ring Rd West 2, Chengdu 610072, Sichuan, Peoples R China., Zhang, L, Kim, R, Huang, LL, Yang, ZL, Zhu, X, Zhang, GL   +17 more
core   +1 more source

Sample coverage information from whole exome sequencing analysis. [PDF]

, 2023
Sample coverage information from whole exome sequencing analysis.
Ahmet Acar (15008049), Tugce Dilber (17048226), Gizem Damla Yalcin (17048223), Kubra Celikbas Yilmaz (16523463)   +3 more
core   +1 more source

Genotype–Phenotype Correlations of Dystrophic Epidermolysis Bullosa in India: Experience from a Tertiary Care Centre

Acta Dermato-Venereologica, 2018
Recent advances in the field of genomics have seen the successful implementation of whole exome sequencing as a rapid and efficient diagnostic strategy in several genodermatoses.
Vamsi K. Yenamandra, Shamsudheen K. Vellarikkal, Madhumita R. Chowdhury, Rijith Jayarajan, Ankit Verma, Vinod Scaria, Sridhar Sivasubbu, Subrata Basu Ray, Amit K. Dinda, Madhulika Kabra, Vinod K. Sharma, Gomathy Sethuraman   +11 more
doaj   +1 more source

Whole Exome Sequencing Identifies Novel Genetic Alterations in Patients with Pheochromocytoma/Paraganglioma [PDF]

Endocrinology and Metabolism, 2020
Background Pheochromocytoma and paragangliomas (PPGL) are known as tumors with the highest level of heritability, approximately 30% of all cases. Clinical practice guidelines of PPGL recommend genetic testing for germline variants in all patients.
Soo Hyun Seo, Jung Hee Kim, Man Jin Kim, Sung Im Cho, Su Jin Kim, Hyein Kang, Chan Soo Shin, Sung Sup Park, Kyu Eun Lee, Moon-Woo Seong   +9 more
doaj   +1 more source

Whole-exome sequencing in familial atrial fibrillation [PDF]

European Heart Journal, 2014
Positional cloning and candidate gene approaches have shown that atrial fibrillation (AF) is a complex disease with familial aggregation. Here, we employed whole-exome sequencing (WES) in AF kindreds to identify variants associated with familial AF.WES was performed on 18 individuals in six modestly sized familial AF kindreds. After filtering very rare
Peter, Weeke, Raafia, Muhammad, Jessica T, Delaney, Christian, Shaffer, Jonathan D, Mosley, Marcia, Blair, Laura, Short, Tanya, Stubblefield, Dan M, Roden, Dawood, Darbar   +9 more
openaire   +2 more sources

Translating whole‐genome doubling into precision medicine in cancer

Molecular Oncology, EarlyView.
Whole‐genome doubling creates a WGD‐positive tumor state characterized by persistent chromosomal instability, karyotypic diversification, and cellular stress. These same biological pressures drive aggressive tumor evolution while exposing therapeutic vulnerabilities, providing a rationale for WGD‐informed precision medicine. Whole‐genome doubling (WGD)
Sejung Lee, Junghyeok Lim, Jinhyuk Bhin
wiley   +1 more source

Characteristics of study sample for whole exome sequencing. [PDF]

, 2022
Characteristics of study sample for whole exome sequencing.
Pingxing Xie (290131), Ian R. White (7774799), Thomas J. Urban (12407197), Sarah E. Kleinstein (10983185), Jessica M. Maia (12407194), Chris Chamberlain (12407191), Duncan McHale (6380621), Christophe Praet (12407188), David B. Goldstein (7949105), Patrick R. Shea (12407200)   +9 more
core   +1 more source

Mutation discovery in mice by whole exome sequencing [PDF]

Genome Biology, 2011
Abstract We report the development and optimization of reagents for in-solution, hybridization-based capture of the mouse exome. By validating this approach in a multiple inbred strains and in novel mutant strains, we show that whole exome sequencing is a robust approach for discovery of putative mutations, irrespective of strain ...
Fairfield, Heather, Gilbert, Griffith J, Barter, Mary, Corrigan, Rebecca R, Curtain, Michelle, Ding, Yueming, D'Ascenzo, Mark, Gerhardt, Daniel J, He, Chao, Huang, Wenhui, Richmond, Todd, Rowe, Lucy, Probst, Frank J, Bergstrom, David E, Murray, Stephen A, Bult, Carol, Richardson, Joel, Kile, Benjamin T, Gut, Ivo, Hager, Jorg, Sigurdsson, Snaevar, Mauceli, Evan, Di Palma, Federica, Lindblad-Toh, Kerstin, Cunningham, Michael L, Cox, Timothy C, Justice, Monica J, Spector, Mona S, Lowe, Scott W, Albert, Thomas, Donahue, Leah Rae, Jeddeloh, Jeffrey, Shendure, Jay, Reinholdt, Laura G   +33 more
openaire   +3 more sources

Aging Is a Key Driver for Adult Acute Myeloid Leukemia

Aging and Cancer, EarlyView.
Acute myeloid leukemia (AML) is a classical age‐related hematologic malignancy, and a key driver of AML is aging, which profoundly regulates intrinsic factors such as genomic instability, epigenetic reprogramming, and metabolic dysregulation, and alters bone marrow microenvironment.
Rong Yin, Haojian Zhang
wiley   +1 more source