Results 81 to 90 of about 1,085 (147)

Macrocephaly and Digital Anomalies Expand the Phenotypic Spectrum of PGAP2 Variants in Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3)

open access: yesHuman Mutation, Volume 2024, Issue 1, 2024.
Glycosylphosphatidylinositols (GPIs) anchor over 150 proteins as GPI‐anchored proteins (GPI‐APs) with crucial roles in diverse biological processes. The highly conserved biosynthesis of GPI‐APs involves precise steps with at least 21 genes, categorized as PIG and PGAP genes.
Seda Susgun   +19 more
wiley   +1 more source

Transcriptomes reflect the phenotypes of undifferentiated, granulocyte and macrophage forms of HL-60/S4 cells [PDF]

open access: yes, 2017
Author Posting. © The Author(s), 2017. This is the author's version of the work. It is posted here by permission of Taylor & Francis for personal use, not for redistribution.
Jauch, Anna   +4 more
core   +2 more sources

CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders [PDF]

open access: yes, 2016
Contactin genes CNTN5 and CNTN6 code for neuronal cell adhesion molecules that promote neurite outgrowth in sensory-motor neuronal pathways. Mutations of CNTN5 and CNTN6 have previously been reported in individuals with autism spectrum disorders (ASDs ...
Amsellem, F.   +35 more
core   +4 more sources

Exploring the role of fibronectin in spondylometaphyseal dysplasia [PDF]

open access: yes, 2018
La fibronectine (FN), une glycoprotéine largement exprimée, a été associée à de nombreux processus biologiques fondamentaux, mais n’a jamais été impliquée dans des maladies osseuses. L’identification de mutations dans le gène qui code pour cette protéine
Baratang, Nissan Vida
core  

Biomarker Discovery with Quantum Neural Networks: A Case-study in CTLA4-Activation Pathways

open access: yes, 2023
Biomarker discovery is a challenging task due to the massive search space. Quantum computing and quantum Artificial Intelligence (quantum AI) can be used to address the computational problem of biomarker discovery tasks.
Nguyen, Nam
core  

Associating expression and genomic data using co-occurrence measures [PDF]

open access: yes, 2019
Recent technological evolutions have led to an exponential increase in data in all the omics fields. It is expected that integration of these different data sources, will drastically enhance our knowledge of the biological mechanisms behind genomic ...
Larmuseau, Maarten   +2 more
core   +2 more sources

Biomolecular Events in Cancer Revealed by Attractor Metagenes [PDF]

open access: yes, 2013
Mining gene expression profiles has proven valuable for identifying signatures serving as surrogates of cancer phenotypes. However, the similarities of such signatures across different cancer types have not been strong enough to conclude that they ...
Anastassiou, Dimitris   +2 more
core   +3 more sources

A single nucleotide variant on chromosome 17 residing within PSMD3 distinguishes patients with HER2+ breast cancer.

open access: yes, 2022
Molecular subtypes, including the human epidermal growth factor receptor 2-enriched subtype (HER2+), drive patient outcomes in human breast cancer but the biological basis underlying subtype-specific disease is not completely understood (1-4). We mined published microarray data (5, 6) to discover in an unbiased fashion the most distinguishing genetic ...
openaire   +1 more source

PGAP3 regulates human bronchial epithelial cell mRNAs present in asthma and respiratory virus reference data sets

open access: yes
Abstract PGAP3 is a glycosylphosphatidylinositol (GPI) phospholipase gene localized within chromosome 17q12-21, a region highly linked to asthma. Although much is known about the function of other chromosome 17q12-21 genes expressed at increased levels in bronchial epithelium such as ORMDL3 and GSDMB, little is known about the function ...
Eric Leslie   +5 more
openaire   +2 more sources

Association between methylation quantitative trait loci and colorectal cancer risk, survival and cancer recurrence [PDF]

open access: yes
Background: Epigenetic changes contribute to colorectal cancer (CRC) pathogenesis. We investigated whether methylation quantitative trait loci (mQTLs) are associated with CRC risk, survival and recurrence.
Din, Farhat V N   +10 more
core   +1 more source

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