Results 131 to 140 of about 1,112,515 (342)

Perinatal Gene Transfer to the Liver [PDF]

open access: yes, 2011
The liver acts as a host to many functions hence raising the possibility that any one may be compromised by a single gene defect. Inherited or de novo mutations in these genes may result in relatively mild diseases or be so devastating that death within
Buckley, SM   +6 more
core   +1 more source

Addressing persistent challenges in digital image analysis of cancer tissue: resources developed from a hackathon

open access: yesMolecular Oncology, EarlyView.
Large multidimensional digital images of cancer tissue are becoming prolific, but many challenges exist to automatically extract relevant information from them using computational tools. We describe publicly available resources that have been developed jointly by expert and non‐expert computational biologists working together during a virtual hackathon
Sandhya Prabhakaran   +16 more
wiley   +1 more source

Targeted metabolomics reveals novel diagnostic biomarkers for colorectal cancer

open access: yesMolecular Oncology, EarlyView.
This study employed targeted metabolomic profiling to identify 302 distinct metabolites present in platelet‐rich plasma (PRP), revealing aberrant metabolic profiles amongst individuals diagnosed with colorectal cancer (CRC). Compared to carcinoembryonic antigen (CEA) and cancer antigen 19‐9 (CA199), our metabolite panel showed improved sensitivity ...
Zuojian Hu   +7 more
wiley   +1 more source

Molecular pathology of rare bleeding disorders (RBDs) in India: a systematic review.

open access: yesPLoS ONE, 2014
BackgroundThough rare in occurrence, patients with rare bleeding disorders (RBDs) are highly heterogeneous and may manifest with severe bleeding diathesis.
Bipin P Kulkarni   +7 more
doaj   +1 more source

Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair. [PDF]

open access: yes
Pyruvate dehydrogenase complex (PDC) deficiency caused by mutations in the X-linked PDHA1 gene has a broad clinical presentation, and the pattern of X-chromosome inactivation has been proposed as a major factor contributing to its variable expressivity ...
Brooks, T   +19 more
core   +1 more source

KMT2A degradation is observed in decitabine‐responsive acute lymphoblastic leukemia cells

open access: yesMolecular Oncology, EarlyView.
We demonstrate that decitabine (DEC) not only degrades the DNA methyltransferase DNMT1 but also the leukemic driver lysine methyltransferase KMT2A likely due to structural similarity of the DNA‐binding CXXC domains. DEC influences KMT2A downstream processes and synergizes with menin inhibitor revumenib (REV) to decrease leukemic cell proliferation, and
Luisa Brock   +10 more
wiley   +1 more source

Stability Theory for Nullity and Deficiency of Linear Relations [PDF]

open access: yesarXiv, 2020
Let $\mathcal A$ and $\mathcal B$ be two closed linear relation acting between two Banach spaces $X$ and $Y$ and let $\lambda$ be a complex number. We study the stability of the nullity and deficiency of $\mathcal A$ when it is perturbed by $\lambda\mathcal B$.
arxiv  

"Why me, why now?" Using clinical immunology and epidemiology to explain who gets nontuberculous mycobacterial infection [PDF]

open access: yes, 2016
BACKGROUND: The prevalence of nontuberculous mycobacterial (NTM) disease is rising. An understanding of known risk factors for disease sheds light on the immunological and physical barriers to infection, and how and why they may be overcome.
Ambrose, LR   +3 more
core   +2 more sources

Polyfunctional CD8+CD226+RUNX2hi effector T cells are diminished in advanced stages of chronic lymphocytic leukemia

open access: yesMolecular Oncology, EarlyView.
CD226+CD8+ T cells express elevated levels of RUNX2, exhibit higher proliferation capacity, cytokines and cytolytic molecules expression, and migratory capacity. In contrast, CD226−CD8+ T cells display an exhausted phenotype associated with the increased expression of co‐inhibitory receptors and impaired effector functions.
Maryam Rezaeifar   +4 more
wiley   +1 more source

SUCCESSFUL MANAGEMENT OF SEVERE CONGENITAL FACTOR X DEFICIENCY DURING PREGNANCY AND LABOR WITH PCC IN TWO SISTERS

open access: yesHematology, Transfusion and Cell Therapy, 2022
Introduction: Factor X (FX) deficiency is an autosomal recessive disorder caused by quantitative or qualitative defects in the FX protein. FX deficiency has an estimated worldwide prevalence of one in 1000000.
Alfadil Haroon   +2 more
doaj  

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