Results 31 to 40 of about 4,320,960 (307)

Rejection of immunogenic tumor clones is limited by clonal fraction

open access: yeseLife, 2018
Tumors often co-exist with T cells that recognize somatically mutated peptides presented by cancer cells on major histocompatibility complex I (MHC-I). However, it is unknown why the immune system fails to eliminate immune-recognizable neoplasms before ...
Ron S Gejman   +6 more
doaj   +1 more source

Genetic drivers of heterogeneity in type 2 diabetes pathophysiology

open access: yesNature
Type 2 diabetes (T2D) is a heterogeneous disease that develops through diverse pathophysiological processes1,2 and molecular mechanisms that are often specific to cell type3,4.
Ken Suzuki   +362 more
semanticscholar   +1 more source

Genetic Evaluation of Patients with Clinically Suspected Hereditary Spastic Paraplegia with Seven Novel Variants

open access: yesAnnals of Indian Academy of Neurology
Background and Objectives: Hereditary spastic paraplegia (HSP) is a group of neurodegenerative disorders characterized by genetic and clinical diversity.
Taha Reşid Özdemir   +7 more
doaj   +1 more source

Recurrent Glioma With Lineage Conversion From Oligodendroglioma to Astrocytoma in Two Cases

open access: yesFrontiers in Oncology, 2019
Following the introduction of the molecular classification of gliomas by the WHO in 2016, molecularly-proven lineage conversion during glioma recurrence has never been reported. The reported two cases were initially diagnosed as oligodendroglioma with 1p/
Jo-Heon Kim   +9 more
doaj   +1 more source

Implications of genetic heterogeneity in cancer [PDF]

open access: yesAnnals of the New York Academy of Sciences, 2012
DNA sequencing studies have established that many cancers contain tens of thousands of clonal mutations throughout their genomes, which is difficult to reconcile with the very low rate of mutation in normal human cells. This observation provides strong evidence for the mutator phenotype hypothesis, which proposes that a genome‐wide elevation in the ...
Michael W, Schmitt   +2 more
openaire   +2 more sources

Leukemic Stem Cells: From Leukemic Niche Biology to Treatment Opportunities

open access: yesFrontiers in Immunology, 2021
Acute myeloid leukemia (AML) is one of the most common types of leukemia in adults. While complete remission can be obtained with intensive chemotherapy in young and fit patients, relapse is frequent and prognosis remains poor. Leukemic cells are thought
Tony Marchand   +3 more
doaj   +1 more source

Item-level analyses reveal genetic heterogeneity in neuroticism

open access: yesNature Communications, 2018
Genome-wide association studies (GWAS) of psychological traits are generally conducted on (dichotomized) sums of items or symptoms (e.g., case-control status), and not on the individual items or symptoms themselves.
M. Nagel   +4 more
semanticscholar   +1 more source

Pituitary stalk interruption syndrome is characterized by genetic heterogeneity

open access: yesPLoS ONE, 2020
Pituitary stalk interruption syndrome is a rare disorder characterized by an absent or ectopic posterior pituitary, interrupted pituitary stalk and anterior pituitary hypoplasia, as well as in some cases, a range of heterogeneous somatic anomalies.
R. Brauner   +3 more
semanticscholar   +1 more source

Scheimpflug imaging for keratoconus and ectatic disease

open access: yesIndian Journal of Ophthalmology, 2013
Scheimpflug cross-sectioning anterior segment imaging offers significant advantages over traditional placido based curvature analysis and ultrasound pachymetry. The accurate measurement of both the anterior and posterior corneal surfaces and the anterior
Michael W Belin, Renato Ambrósio
doaj   +1 more source

Genetic Heterogeneity in Human Disease [PDF]

open access: yesCell, 2010
Strong evidence suggests that rare mutations of severe effect are responsible for a substantial portion of complex human disease. Evolutionary forces generate vast genetic heterogeneity in human illness by introducing many new variants in each generation.
McClellan, Jon, King, Mary-Claire
openaire   +2 more sources

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