Results 51 to 60 of about 1,740,047 (309)

Evaluating the Utility of Paired Tumor and Germline Targeted DNA Sequencing for Pediatric Oncology Patients: A Single Institution Report

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield and utility of universal paired tumor–normal multigene panel sequencing in newly diagnosed pediatric solid and central nervous system (CNS) tumor patients and to compare the detection of germline pathogenic/likely pathogenic variants (PV/LPVs) against established clinical referral criteria for cancer ...
Natalie Waligorski   +9 more
wiley   +1 more source

Crouzon syndrome: Genetic and intervention review

open access: yesJournal of Oral Biology and Craniofacial Research, 2019
Crouzon syndrome exhibits considerable phenotypic heterogeneity, in the aetiology of which genetics play an important role. FGFR2 mediates extracellular signals into cells and the mutations in the FGFR2 gene cause this syndrome occurrence. Activated FGFs/
N.M. Al-Namnam   +3 more
doaj   +1 more source

High-resolution mapping of cancer cell networks using co-functional interactions. [PDF]

open access: yes, 2018
Powerful new technologies for perturbing genetic elements have recently expanded the study of genetic interactions in model systems ranging from yeast to human cell lines.
Boyle, Evan A   +2 more
core   +1 more source

NRASQ61R Expression in Lymphatic Endothelial Cells Causes Enlarged Vessels, Hemorrhagic Chylous Effusions, and High Mortality in a Mouse Model of Kaposiform Lymphangiomatosis

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Background Kaposiform lymphangiomatosis (KLA) is an aggressive complex lymphatic anomaly. Patients exhibit malformed lymphatic vessels and often develop hemorrhagic effusions and elevated angiopoietin‐2 (Ang‐2) levels. A somatic NRAS p.Q61R (NRASQ61R) mutation has been associated with KLA.
C. Griffin McDaniel   +3 more
wiley   +1 more source

Comprehensive understanding of glioblastoma molecular phenotypes: classification, characteristics, and transition

open access: yesCancer Biology & Medicine
Among central nervous system-associated malignancies, glioblastoma (GBM) is the most common and has the highest mortality rate. The high heterogeneity of GBM cell types and the complex tumor microenvironment frequently lead to tumor recurrence and sudden
Can Xu   +9 more
doaj   +1 more source

Phenotypic and molecular characterisation of Staphylococcus aureus with reduced vancomycin susceptibility derivated in vitro

open access: yesOpen Medicine, 2018
Vancomycin has been the primary agent used to treat serious Methicillin-resistant Staphylococcus aureus (MRSA) infection for many years. However, the rise of MRSA infection rates and the extensive use of vancomycin have led to the emergence of reduced ...
Xu Jia   +6 more
doaj   +1 more source

Comparative genome analysis of Wolbachia strain wAu [PDF]

open access: yes, 2014
BACKGROUND: Wolbachia intracellular bacteria can manipulate the reproduction of their arthropod hosts, including inducing sterility between populations known as cytoplasmic incompatibility (CI). Certain strains have been identified that are unable to
Harris, Simon R.   +3 more
core   +2 more sources

Pulmonary Dysfunction Is Associated With Sleep Study Abnormalities in Children With Sickle Cell Disease: A Multicenter Study

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction Pulmonary dysfunction and sleep abnormalities are common in children with sickle cell disease (SCD) and are associated with worse clinical outcomes. Whether spirometry abnormalities are associated with polysomnography (PSG) findings remains unclear.
Ammar Saadoon Alishlash   +4 more
wiley   +1 more source

Diagnosis, Phenotype, and Molecular Genetics of Congenital Analbuminemia

open access: yesFrontiers in Genetics, 2019
Congenital analbuminemia (CAA) is an inherited, autosomal recessive disorder with an incidence of 1:1,000,000 live birth. Affected individuals have a strongly decreased concentration, or complete absence, of serum albumin.
Lorenzo Minchiotti   +5 more
doaj   +1 more source

DNMT3B in vitro knocking-down is able to reverse embryonal rhabdomyosarcoma cell phenotype through inhibition of proliferation and induction of myogenic differentiation [PDF]

open access: yes, 2016
Aberrant DNA methylation has been frequently observed in many human cancers, including rhabdomyosarcoma (RMS), the most common soft tissue sarcoma in children.
Camero, Simona   +11 more
core   +1 more source

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