Results 51 to 60 of about 846,289 (308)

Whole genome sequencing of Mycobacterium tuberculosis reveals slow growth and low mutation rates during latent infections in humans

, 2014
Very little is known about the growth and mutation rates of Mycobacterium tuberculosis during latent infection in humans. However, studies in rhesus macaques have suggested that latent infections have mutation rates that are higher than that observed ...
Vic L Arcus, Noel Karalus (533380), Coley, Kathy, Marchiano, Emily, David Alland, Karalus, Noel, Shannon D. Manning (148732), Ray T Cursons, Manning, Shannon D., Ray T. Cursons (533378), David Alland (31640), Alland, David, Noel Karalus, Emily Marchiano, Roberto Colangeli, Kathy Coley, Cursons, Raymond T., Emily Marchiano (533383), Vic L. Arcus (533377), Roberto Colangeli (31628), Soyeon Kim (533382), Colangeli, Roberto, Ali Ruthe (533379), Ruthe, Ali, Ali Ruthe, Kathy Coley (533381), Soyeon Kim, Arcus, Vickery L., Shannon D Manning, Kim, Soyeon   +29 more
core   +1 more source

Maternal age effect and severe germ-line bottleneck in the inheritance of human mitochondrial DNA [PDF]

, 2014
The manifestation of mitochondrial DNA (mtDNA) diseases depends on the frequency of heteroplasmy (the presence of several alleles in an individual), yet its transmission across generations cannot be readily predicted owing to a lack of data on the size ...
Chiaromonte, Francesca, T. S. Korneliussen, D. Blankenberg, Blankenberg, Daniel, Korneliussen, Thorfinn Sand, I. M. Paul, Paul, IM, Holland, Mitchell M, Su, Marcia Shu-Wei, B. Rebolledo-Jaramillo, Su, MS-W, B. Dickins, A. Nekrutenko, McElhoe, Jennifer A., R. Nielsen, N. Stoler, Nielsen, Rasmus, Nekrutenko, A, Makova, Kateryna D., Stoler, Nicholas, McElhoe, Jennifer A, Korneliussen, Thorfinn S., Chiaromonte, F, Holland, MM, M. S.-W. Su, Nekrutenko, Anton, Nielsen, R, Makova, KD, J. A. McElhoe, Rebolledo-Jaramillo, Boris, Rebolledo-Jaramillo, B, Korneliussen, Thorfinn S, Makova, Kateryna D, M. M. Holland, Holland, Mitchell M., Stoler, N, Blankenberg, D, F. Chiaromonte, Paul, Ian M., Paul, Ian M, K. D. Makova, Korneliussen, TS, McElhoe, JA, Dickins, Benjamin, Dickins, B   +44 more
core   +1 more source

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

High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes

, 2000
Twenty-eight families with a clinical diagnosis of Treacher Collins syndrome were screened for mutations in the 25 coding exons of TCOF1 and their adjacent splice junctions through SSCP and direct sequencing.
Rosa, A., Passos-Bueno, M. R., Splendore, A., Richieri-Costa, A., Alonso, N., Brunoni, D., Alonso, L. G., Cavalcanti, D. P., Silva, E. O., Carakushanky, G.   +9 more
core   +2 more sources

Clinical and Biological Features of Response in Resistant Neuroblastoma to 131I‐Metaiodobenzylguanidine Radiotherapy in the Anti‐GD2 Immunotherapy Era

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background 131I‐metaiodobenzylguanidine (131I‐MIBG) radiotherapy is a key treatment for relapsed and refractory (R/R) neuroblastoma (NB). Patients with R/R disease treated in the modern era are increasingly exposed to anti‐GD2 immunotherapy, which exerts selective pressure and may modify both tumor cell state and microenvironment.
Benjamin J. Lerman, Katherine K. Matthay, Fabienne Hollinger, Catriona Black, Ann A. Lazar, Miguel Pampaloni, Steven G. DuBois, Kieuhoa T. Vo   +7 more
wiley   +1 more source

Periodic Variation of Mutation Rates in Bacterial Genomes Associated with Replication Timing

mBio, 2018
The causes and consequences of spatiotemporal variation in mutation rates remain to be explored in nearly all organisms. Here we examine relationships between local mutation rates and replication timing in three bacterial species whose genomes have ...
Marcus M. Dillon, Way Sung, Michael Lynch, Vaughn S. Cooper   +3 more
doaj   +1 more source

Whole-Genome Sequencing and Drug-Susceptibility Analysis of Serial Mycobacterium abscessus Isolates from Thai Patients

Biology, 2022
Mycobacterium abscessus is an important pathogen that can cause serious human diseases and is difficult to treat due to antibiotic resistance. In this study, we analyzed, using whole-genome sequence (WGS) data, M. abscessus strains serially isolated from
Orawee Kaewprasert, Ditthawat Nonghanphithak, Ploenchan Chetchotisakd, Wises Namwat, Rick Twee-Hee Ong, Kiatichai Faksri   +5 more
doaj   +1 more source

Hospitalization Through Families’ Eyes: Comparing Inpatient Care Quality for Children With Sickle Cell Disease and Cystic Fibrosis in Canada

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Sickle cell disease (SCD) is a chronic, inherited hemoglobinopathy that requires frequent hospitalization for disease‐related complications. Canadian data on inpatient care is limited. This study compared caregiver‐reported hospital experiences of children with SCD to those with cystic fibrosis (CF), a chronic, autosomal recessive ...
Hailey M. Zwicker, Kyle Kemp, Perri Tutelman, Sharon H. J. Hou, Paul Fairie, Maria Santana, Gregory M. T. Guilcher, Taryn Fay‐McClymont, Glenda Bendiak, Wendy Pelletier, Nicola Wright, Fiona Schulte   +11 more
wiley   +1 more source

Strong mutation testing strategies [PDF]

, 1993
Mutation Testing (or Mutation Analysis) is a source code testing technique which analyses code by altering code components. The output from the altered code is compared with output from the original code.
Duncan, Ishbel M.M.
core  

Deep Sequencing of FLT3‐ITD Enables Response Evaluation and Post‐Treatment Monitoring in Childhood AML: An Exploratory Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background An internal tandem duplication in the gene encoding Fms‐like tyrosine kinase 3 (FLT3‐ITD) is associated with high relapse risk and poor prognosis in acute myeloid leukemia (AML) and plays a crucial role in treatment decisions. Measurable residual disease (MRD) analysis of FLT3‐ITD during and after treatment has shown prognostic ...
Sofie Johansson Alm, Bea Tornberg, Erik Delsing Malmberg, Henrik Hasle, Kristian Løvvik Juul‐Dam, Lars Palmqvist, Borhan R. Saeed, Giti Shah Barkhordar, Anastasia Soboli, Anna Staffas, Jonas Abrahamsson, Linda Fogelstrand   +11 more
wiley   +1 more source