Results 51 to 60 of about 233,128 (302)

Somatic mutations in children with GATA2-associated myelodysplastic syndrome who lack other features of GATA2 deficiency

Blood Advances, 2017
: Approximately 10% of children with primary myelodysplastic syndrome (MDS) have germ line GATA2 mutations, leading to the proposal that all children with primary MDS and certain cytogenetic findings, including monosomy 7, be tested for germ line GATA2 ...
Kevin E. Fisher, Amy P. Hsu, Christopher L. Williams, Hadi Sayeed, Brian Y. Merritt, M. Tarek Elghetany, Steven M. Holland, Alison A. Bertuch, Maria Monica Gramatges   +8 more
doaj   +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

Somatic CEBPA mutations are a frequent second event in families with germline CEBPA mutations and familial acute myeloid leukemia

, 2008
PURPOSE: The transcription factor CCAAT/enhancer binding protein-alpha (CEBPA) is crucial for normal myeloid differentiation. Mutations in the CEBPA gene are found in subsets of patients with acute myeloid leukemia (AML).
Schardt, Julian, Pabst, Thomas, Haefliger, Simon, Mueller, Beatrice U, Eyholzer, Marianne   +4 more
core   +1 more source

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

The V_H gene repertoire of splenic B cells and somatic hypermutation in systemic lupus erythematosus [PDF]

, 2003
In systemic lupus erythematosus (SLE) it has been hypothesized that self-reactive B cells arise from virgin B cells that express low-affinity, nonpathogenic germline V genes that are cross-reactive for self and microbial antigens, which convert to high ...
Stott, DI, Gary Rowley, Fraser, N.L.W., Field, M, Fraser, NLW, Rowley, G., Field, M., Max Field, Rowley, G, David I Stott, Stott, D.I., Nicola LW Fraser   +11 more
core   +1 more source

Minimizing detection bias of somatic mutations in a highly heterozygous oak genome. [PDF]

G3 (Bethesda)
Somatic mutations are particularly relevant for long-lived organisms. Sources of somatic mutations include imperfect DNA repair, replication errors, and exogenous damage such as ultraviolet radiation.
Xian W, Carbonell-Bejerano P, Rabanal FA, Bezrukov I, Reymond P, Weigel D.   +5 more
europepmc   +2 more sources

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

Novel Mutations Detection with Next-Generation Sequencing and Its Association with Clinical Outcome in Unilateral Primary Aldosteronism

Biomedicines, 2021
Somatic mutations have been identified in adrenal tissues of unilateral primary aldosteronism (uPA). The spectrum of somatic mutations in uPAs was investigated using a customized and targeted next-generation sequencing (cNGS) approach.
Che-Hsiung Wu, Kang-Yung Peng, Daw-Yang Hwang, Yen-Hung Lin, Vin-Cent Wu, Jeff S. Chueh   +5 more
doaj   +1 more source

The Role of Hematopoietic Cell Transplantation in Ataxia‐Telangiectasia

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Ataxia‐telangiectasia (A‐T) is a DNA repair disorder characterized by neurodegeneration, immunodeficiency, and cancer predisposition. Hematopoietic cell transplantation (HCT) is an established therapy in related disorders such as Fanconi anemia (FA) and Nijmegen breakage syndrome (NBS), but its role in A‐T is unclear.
Laila Alkhouli, Seth Rotz, Masatoshi Takagi, Richa Sharma   +3 more
wiley   +1 more source

Cigarette smoking and K-ras mutations in pancreas, lung and colorectal adenocarcinomas: etiopathogenic similarities, differences and paradoxes.

, 2009
Surprisingly different frequencies and patterns of K-ras mutations are observed in human adenocarcinomas of the pancreas, colorectum and lung. Their respective relationships with smoking are apparently paradoxical. We evaluated all the available types of
Real, F.X., Vineis, Paolo, Wark, P.A., Malats, N., Kampman, Ellen, Real, Francisco X., Vineis, P., Real, Francisco X, Crous-Bou, Marta, Crous-Bou, M., Wark, Petra A, Kampman, E., Wark, Petra A.; id_orcid, Porta, Miquel, Porta, M., Malats, Núria   +15 more
core   +1 more source