Results 71 to 80 of about 502,320 (296)

Reconstructing DNA copy number by joint segmentation of multiple sequences

BMC Bioinformatics, 2012
Background Variations in DNA copy number carry information on the modalities of genome evolution and mis-regulation of DNA replication in cancer cells. Their study can help localize tumor suppressor genes, distinguish different populations of cancerous ...
Zhang Zhongyang, Lange Kenneth, Sabatti Chiara   +2 more
doaj   +1 more source

Low alpha-defensin gene copy number increases the risk for IgA nephropathy and renal dysfunction [PDF]

, 2016
IgA nephropathy (IgAN) is the most common primary glomerulonephritis worldwide. Although a major source of genetic variation, copy number variations (CNVs) and their involvement in disease development have not been well studied.
Ai, Zhen, Armour, John A.L., Barratt, Jonathan, Chen, Jian, Dong, Xiuqing, Fan, Jinjin, Feng, Shaozhen, Foo, Jia-Nee, Gale, Daniel, Li, Ming, Liu, Jianjun, Liu, Wenting, Lou, Tanqi, Mansouri, Omniah, Mao, Haiping, Tang, Xueqing, Wan, Jianxin, Xu, Ricong, Yin, Peiran, Yu, Jianwen, Yu, Xueqing, Zhong, Zhong, Zhou, Qian, Zhou, Qin   +23 more
core   +3 more sources

Functional consequences of copy number variants in miscarriage [PDF]

Molecular Cytogenetics, 2015
Background: The presence of unique copy number variations (CNVs) in miscarriages suggests that their integral genes have a role in maintaining early pregnancy. In our previous work, we identified 19 unique CNVs in ~40% of studied euploid miscarriages, which were predominantly familial in origin.
Wen, Jiadi, Hanna, Courtney W, Martell, Sally, Leung, Peter C, Lewis, Suzanne M, Robinson, Wendy P, Stephenson, Mary D, Rajcan-Separovic, Evica   +7 more
openaire   +3 more sources

Health‐Related Quality of Life and Symptom Severity Among Patients With PIK3CA‐Related Overgrowth Spectrum: A Mixed‐Methods Study to Understand Real‐World Experience With Alpelisib Treatment

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background PIK3CA‐related overgrowth spectrum (PROS) includes several rare overgrowth disorders resulting from somatic gain‐of‐function mutations in PIK3CA. Despite treatment advances, including the recent approval of alpelisib for PROS in the United States, literature detailing the patient experience with PROS is limited.
Vamsi Bollu, Kaitlin LaGasse, Cory D. Saucier, Kimberly Raymond, Miranda Lauher‐Charest, Lauren Crowder, Beilei Cai, Mary Lisha Paul, Denise Adams   +8 more
wiley   +1 more source

Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy

, 2015
Infantile spasms (IS) and Lennox–Gastaut syndrome (LGS) are epileptic encephalopathies characterized by early onset, intractable seizures, and poor developmental outcomes.
Epilepsy Phenome/Genome Project & Epi4K Consortium
core   +1 more source

Copy number variants, diseases and gene expression [PDF]

Human Molecular Genetics, 2009
Copy number variation (CNV) has recently gained considerable interest as a source of genetic variation likely to play a role in phenotypic diversity and evolution. Much effort has been put into the identification and mapping of regions that vary in copy number among seemingly normal individuals in humans and a number of model organisms, using ...
Henrichsen CN, Chaignat E, Reymond A
openaire   +3 more sources

‘They Need to Hear You Say It’: Healthcare Professionals’ Perspectives on Barriers and Enablers to End‐of‐Life Discussions With Adolescents and Young Adults With Cancer

Pediatric Blood &Cancer, EarlyView.
ABSTRACT End‐of‐life conversations with adolescents and young adults (AYAs) with cancer rarely occur without the guidance of healthcare professionals. As a part of the ‘Difficult Discussions’ study, focused on palliative care and advance care planning discussions with AYAs with cancer, we investigated the factors that healthcare professionals identify ...
Justine Lee, Holly Evans, Claire E. Wakefield, Antoinette Anazodo, Richard J. Cohn, Brittany C. McGill, Elizabeth A. Lobb, Lori Wiener, Madeleine L. Juhrmann, Ursula M. Sansom‐Daly   +9 more
wiley   +1 more source

Analysis of five deep-sequenced trio-genomes of the Peninsular Malaysia Orang Asli and North Borneo populations [PDF]

, 2019
BackgroundRecent advances in genomic technologies have facilitated genome-wide investigation of human genetic variations. However, most efforts have focused on the major populations, yet trio genomes of indigenous populations from Southeast Asia have ...
Bhak, Jong, Deng, Lian, Farhang, Aghakhanian, Hoh, Boon-Peng, Hoque, Mohammad Zahirul, Kumar, Subbiah Vijay, Liu, Chang, Lou, Haiyi, Lu, Dongsheng, Marshall, Christian R., Ong, Rick Twee-Hee, Phipps, Maude E., Scherer, Stephen W., Teo, Yik-Ying, Thiruvahindrapuram, Bhooma, Thuhairah, Abdul Rahman, Wong, Lai-Ping, Xie, Bo, Xu, Shuhua, Xu, Wanxing, Yew, Chee-Wei, Zhang, Xiaoxi   +21 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

Influence of genetic copy number variants of the human GLUT3 glucose transporter gene SLC2A3 on protein expression, glycolysis and rheumatoid arthritis risk: A genetic replication study

Molecular Genetics and Metabolism Reports, 2019
Objectives: The gene encoding glucose transporter 3 (GLUT3, SLC2A3) is present in the human population at variable copy number. An overt disease phenotype of SLC2A3 copy number variants has not been reported; however, deletion of SLC2A3 has been ...
Kim R. Simpfendorfer, Wentian Li, Andrew Shih, Hongxiu Wen, Harini P. Kothari, Edward A. Einsidler, Arthur Wuster, Julie Hunkapiller, Timothy W. Behrens, Robert R. Graham, Michael J. Townsend, Doron M. Behar, Rui Hu, Elliott Greenspan, Peter K. Gregersen   +14 more
doaj   +1 more source