Results 41 to 50 of about 2,519,227 (189)

GNE: A deep learning framework for gene network inference by aggregating biological information [PDF]

open access: yesBMC Systems Biology, 2018
Abstract The topological landscape of gene interaction networks provides a rich source of information for inferring functional patterns of genes or proteins. However, it is still a challenging task to aggregate heterogeneous biological information such as gene expression and gene interactions to achieve more accurate ...
Kishan KC   +4 more
openaire   +3 more sources

Super-enhancer profiling identifies novel critical and targetable cancer survival gene LYL1 in pediatric acute myeloid leukemia

open access: yesJournal of Experimental & Clinical Cancer Research, 2022
Background Acute myeloid leukemia (AML) is a myeloid neoplasm makes up 7.6% of hematopoietic malignancies. Super-enhancers (SEs) represent a special group of enhancers, which have been reported in multiple cell types.
Fang Fang   +21 more
doaj   +1 more source

Behavioral features in child and adolescent huntingtin gene‐mutation carriers

open access: yesBrain and Behavior, 2022
Introduction We compared neuropsychiatric symptoms between child and adolescent huntingtin gene‐mutation carriers and noncarriers. Given previous evidence of atypical striatal development in carriers, we also assessed the relationship between ...
Erin E. Reasoner   +8 more
doaj   +1 more source

Motor axonal neuropathy associated with GNE mutations

open access: yes, 2021
Background: Mutations in the GNE gene have been so far described as predominantly associated with distal lower-limb myopathies. Recent reports describe mutations in this gene in patients with peripheral neuropathy and motor neuron disease.
Krahn M.   +10 more
core   +1 more source

Production of sialic acid affected by GNE gene mutations [PDF]

open access: yes, 2012
Hereditary Inclusion Body Myopathy (HIBM) is an autosomal recessive disorder characterized by adult onset muscle-wasting, affecting both proximal and distal muscles.
Rajaei, Atefeh
core   +1 more source

CRISPR-Based Gene Dependency Screens Reveal Mechanism of BRAF Inhibitor Resistance in Anaplastic Thyroid Cancer. [PDF]

open access: yesMol Carcinog
ABSTRACT Anaplastic thyroid cancer (ATC) is the most aggressive form of thyroid cancer. Despite recent advances in treating BRAFV600E‐driven ATC, therapy resistance remains a significant challenge, often resulting in disease progression and death.
Noronha S   +26 more
europepmc   +2 more sources

GNE myopathy (Nonaka myopathy)

open access: yesАнналы клинической и экспериментальной неврологии, 2019
GNE myopathy (Nonaka myopathy) is a rare recessive muscular dystrophy associated with the GNE gene, which is involved in sialic acid synthesis. Typical onset is in the third decade of life with distal weakness of the arms and legs, gradually progressing ...
Galina E. Rudenskaya   +2 more
doaj   +1 more source

GNE-617 reduces NAD levels in sensitive and resistant cell lines.

open access: yes, 2016
A) Structure of GNE-617 with its biochemical IC50 for NAMPT. B) Correlation between NAMPT protein levels and sensitivity to GNE-617 (IC50) determined in a 4-day viability assay.
Anneleen Daemen (365394)   +6 more
core   +1 more source

Congenital thrombocytopenia associated with GNE mutations in twin sisters: a case report and literature review

open access: yesBMC Medical Genetics, 2020
Background Neonatal thrombocytopenia is common in preterm and term neonates admitted to neonatal intensive care units. The etiology behind neonatal thrombocytopenia is complex. Inherited thrombocytopenia is rare and usually results from genetic mutations.
Xin Li   +7 more
doaj   +1 more source

Biosynthesis of UDP-GlcNAc, UndPP-GlcNAc and UDP-GlcNAcA involves three easily distinguished 4-epimerase enzymes, Gne, Gnu and GnaB. [PDF]

open access: yesPLoS ONE, 2013
We have undertaken an extensive survey of a group of epimerases originally named Gne, that were thought to be responsible for inter-conversion of UDP-N-acetylglucosamine (UDP-GlcNAc) and UDP-N-acetylgalactosamine (UDP-GalNAc).
Monica M Cunneen   +3 more
doaj   +1 more source

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