Results 61 to 70 of about 4,610,135 (394)
Germline TP53 Mutations Causing Diamond–Blackfan Anemia: A French Report
Pediatric 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
Identification of low-frequency TRAF3IP2 coding variants in psoriatic arthritis patients and functional characterization [PDF]
, 2012 Introduction: In recent genome-wide association studies for psoriatic arthritis (PsA) and psoriasis vulgaris, common coding variants in the TRAF3IP2 gene were identified to contribute to susceptibility to both disease entities.
Apel, Maria +6 more
core +2 more sources
Pediatric 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
Advanced Biomedical Research, 2014 Common variable immunodeficfiiency (CVID) is a primary immunodeficiency syndrome representing a heterogeneous set of disorders resulting mostly in antibody deficiency and recurrent infections. However, inflammatory and autoimmune disorders and some kinds
Reza Yazdani +4 more
doaj +1 more source
Trop2 and its overexpression in cancers: regulation and clinical/therapeutic implications. [PDF]
, 2014 Trop2 is a transmembrane glycoprotein encoded by the Tacstd2 gene. It is an intracellular calcium signal transducer that is differentially expressed in many cancers. It signals cells for self-renewal, proliferation, invasion, and survival.
Bonavida, Benjamin, Shvartsur, Anna
core +2 more sources
Genetically encodable biosensors for Ras activity [PDF]
RSC Chemical BiologyGenetically encoded Ras biosensors have illuminated the spatiotemporal dynamics of Ras activity since the start of the imaging revolution of the early 21st century, helping elucidate Ras signalling at various subcellular compartments.
Ryan Weeks, Sohum Mehta, Jin Zhang
openaire +3 more sources
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 +7 more
wiley +1 more source
Conserved mosquito/parasite interactions affect development of Plasmodium falciparum in Africa. [PDF]
PLoS Pathogens, 2008 In much of sub-Saharan Africa, the mosquito Anopheles gambiae is the main vector of the major human malaria parasite, Plasmodium falciparum. Convenient laboratory studies have identified mosquito genes that affect positively or negatively the ...
Antonio M Mendes +9 more
doaj +1 more source
Hematology, Transfusion and Cell Therapy, 2023 The myelodysplastic syndromes (MDS) are clonal bone marrow (BM) stem cell disease(s), characterized by abnormal hematopoiesis, with anemia (95%) and/or other cytopenias. The pathogenesis is based on genetics and inflammation of aging (inflammaging).
Moshe Mittelman
doaj +1 more source
Hidden long evolutionary memory in a model biochemical network
, 2017 We introduce a minimal model for the evolution of functional protein-interaction networks using a sequence-based mutational algorithm, and apply the model to study neutral drift in networks that yield oscillatory dynamics. Starting with a functional core
Ali, Md. Zulfikar +2 more
core +1 more source