Results 51 to 60 of about 2,370,829 (352)

Germline TP53 Mutations Causing Diamond–Blackfan Anemia: A French Report

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Diamond–Blackfan anemia is a rare congenital erythroblastopenia typically caused by mutations in ribosomal protein genes. Recently, gain‐of‐function mutations in TP53 have been identified as a novel cause of Diamond–Blackfan anemia. We report two French patients who both harbored a heterozygous TP53 deletion (NM_000546.5: c.1077delA; p ...
Rafael Moisan   +6 more
wiley   +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

open access: yesPediatric 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   +8 more
wiley   +1 more source

Two Faces of NOTCH1 in Childhood Lymphoblastic T‐Cell Neoplasia: Prognostic Divergence of Mutational and Structural Aberrations

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT In pediatric patients, T‐cell lymphoblastic lymphoma (T‐LBL) survival exceeds 80%. Relapse remains associated with limited curative options. Frontline treatment is largely extrapolated from T‐cell acute lymphoblastic leukemia (T‐ALL) treatment, reflecting the ongoing debate, whether both entities represent distinct diseases or variants within ...
Marie C. Heider   +4 more
wiley   +1 more source

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

open access: yesPediatric 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   +7 more
wiley   +1 more source

Reading on Grade Level in Third Grade: How Is It Related to High School Performance and College Enrollment? [PDF]

open access: yes, 2010
Illustrates how third-grade reading level correlates with eighth-grade reading level, which, along with ninth-grade school traits, correlates with ninth-grade performance, which in turn correlates with high school graduation and college attendance ...
Cheryl Smithgall   +3 more
core  

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

open access: yesPediatric 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   +11 more
wiley   +1 more source

A Bibliometric Analysis of Publications in Uremic Toxins From 1991 to 2024

open access: yesTherapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Background Uremic toxins are a growing area of research in nephrology, with significant implications in the progression and treatment of chronic kidney disease (CKD) and the management of end‐stage kidney disease (ESKD). This bibliometric analysis aims to evaluate the global research trends, key contributors, and the impact of publications in ...
Yuh‐Shan Ho   +7 more
wiley   +1 more source

Enhancing English reading motivation and performance via the ARCS model: an empirical study using the ARCS motivation scale

open access: yesFrontiers in Psychology
The ARCS motivation model comprises four factors: Attention, Relevance, Confidence, and Satisfaction. This study aims to investigate the effectiveness of the teaching approach based on this model in English reading for Chinese university students.
Zhonger Wang, Jin Lu, Shenchen Yu
doaj   +1 more source

Optimal line length for reading schoolbook on screen [PDF]

open access: yes, 2013
Although experimental studies have shown a strong impact of text layout on the legibility of e- text, many digital texts appearing in eBook or the internet use different designs, so that there is no straightforward answer in the literature over which one
Abubaker, Azza, Lu, Joan
core  

Mapping the evolution of mitochondrial complex I through structural variation

open access: yesFEBS Letters, EarlyView.
Respiratory complex I (CI) is crucial for bioenergetic metabolism in many prokaryotes and eukaryotes. It is composed of a conserved set of core subunits and additional accessory subunits that vary depending on the organism. Here, we categorize CI subunits from available structures to map the evolution of CI across eukaryotes. Respiratory complex I (CI)
Dong‐Woo Shin   +2 more
wiley   +1 more source

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