Results 81 to 90 of about 1,154,493 (312)

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

Probing Cortical Sites of Antipsychotic Drug Action with in vivo Receptor Imaging

open access: yesBehavioural Neurology, 2000
Imaging receptors using radioactive ligands has allowed direct determination of the sites of action of antipsychotic drugs. Initial studies relating antipsychotic drug efficacy to action at striatal dopamine D2-like receptors have recently been ...
P. Shaw, L. S. Pilowsky
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

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

Feasibility and Safety of High‐Dose Proton Re‐Irradiation in Recurrent Pediatric Central Nervous System Tumors: A Single‐Institution Retrospective Study

open access: yesPediatric 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   +15 more
wiley   +1 more source

Muscarinic acetylcholine receptors as targets for drug development [PDF]

open access: yesMedicinski Podmladak
Muscarinic acetylcholine receptors (mAChRs) are a subfamily of G protein-coupled receptors that have been identified as promising targets for drug development. Five different mAChR subtypes regulate various fundamental functions.
Stojković Maja   +2 more
doaj   +1 more source

The therapeutic potential of allosteric ligands for free fatty acid sensitive GPCRs [PDF]

open access: yes, 2013
G protein coupled receptors (GPCRs) are the most historically successful therapeutic targets. Despite this success there are many important aspects of GPCR pharmacology and function that have yet to be exploited to their full therapeutic potential.
Hudson, Brian D.   +2 more
core   +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

Regulatory Mechanisms and Pathophysiological Significance of IP3 Receptors and Ryanodine Receptors in Drug Dependence

open access: yesJournal of Pharmacological Sciences, 2013
Calcium is a ubiquitous intracellular signaling molecule required for initiating and regulating neuronal functions. Ca2+ release from intracellular stores in the endoplasmic reticulum into intracellular spaces via intracellular Ca2+–releasing channels ...
Koji Mizuno   +2 more
doaj   +1 more source

Neuropeptide receptors as potential antiepileptic drug targets : focus on the ghrelin axis [PDF]

open access: yes, 2014
Epilepsy is a very serious neurological disorder which is often underrepresented. Around 50 million individuals worldwide have active epilepsy with recurrent seizures and in spite of the medical advances over the years, 30% of these patients remain as ...
Portelli, Jeanelle
core   +1 more source

Blinatumomab Utilization in Pediatric B‐Cell Acute Lymphoblastic Leukemia: Experience From the Mountain West

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Background Blinatumomab is a bispecific T‐cell engager approved for the treatment of pediatric B‐cell acute lymphoblastic leukemia (B‐ALL). Outpatient home infusion reduces hospitalization burden and optimizes resource utilization, but is logistically challenging.
Angela Parra del Riego   +10 more
wiley   +1 more source

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