Results 71 to 80 of about 190,979 (293)

Cerebellar Cortex, Purkinje Cell Layer [PDF]

open access: yes, 2008
This report contains a summary of expression patterns for genes that are enriched in the Purkinje cell layer (CBXpu) of the cerebellum. All data is derived from the Allen Brain Atlas (ABA) in situ hybridization mouse project.
Allen Institute for Brain Science   +3 more
core   +2 more sources

Human induced pluripotent stem cell line (PNUSCRi005-A) generated from severe type of Hunter syndrome patient carrying exonic deletion (exon 4–7 del) in in human iduronate 2-sulfatase gene

open access: yesStem Cell Research
Mucopolysaccharidosis Type Ⅱ, as Known as Hunter syndrome, is a rare X-liked genetic disease caused by mutations in iduronate-2-sulfatase (IDS) gene.
Nayeon Lee, Haneul Noh, Chong Kun Cheon
doaj   +1 more source

Detection of Mosaic Variants in Mothers of MPS II Patients by Next Generation Sequencing

open access: yesFrontiers in Molecular Biosciences, 2021
Mucopolysaccharidosis type II is an X-linked lysosomal storage disorder caused by mutations in the IDS gene that encodes the iduronate-2-sulfatase enzyme.
Alice Brinckmann Oliveira Netto   +15 more
doaj   +1 more source

Mechanisms of parasite‐mediated disruption of brain vessels

open access: yesFEBS Letters, EarlyView.
Parasites can affect the blood vessels of the brain, often causing serious neurological problems. This review explains how different parasites interact with and disrupt these vessels, what this means for brain health, and why these processes matter. Understanding these mechanisms may help us develop better ways to prevent or treat brain infections in ...
Leonor Loira   +3 more
wiley   +1 more source

Motor Nucleus of the Trigeminal Nerve [PDF]

open access: yes, 2008
This report contains a summary of expression patterns for genes that are enriched in the motor nucleus of the trigeminal nerve (V) of the pons. All data is derived from the Allen Brain Atlas (ABA) in situ hybridization mouse project. The structure's
Allen Institute for Brain Science   +3 more
core   +2 more sources

Characterization of the Mouse α ID-Adrenergic Receptor Gene

open access: yesJapanese Journal of Pharmacology, 1999
ABSTRACT αl-Adrenergic receptors (αl-ARs) play critical roles in the regulation of a variety of physiological processes. Increasing evidence suggests that multiple receptor subtypes of αl-ARs regulate these physiological processes. Molecular cloning has identified three distinct cDNAs encoding αl-AR subtypes (αlA, αlB and αlD) that are structurally ...
Kei Arai   +5 more
openaire   +1 more source

Time after time – circadian clocks through the lens of oscillator theory

open access: yesFEBS Letters, EarlyView.
Oscillator theory bridges physics and circadian biology. Damped oscillators require external drivers, while limit cycles emerge from delayed feedback and nonlinearities. Coupling enables tissue‐level coherence, and entrainment aligns internal clocks with environmental cues.
Marta del Olmo   +2 more
wiley   +1 more source

A Robust Gene Expression Prognostic Signature for Overall Survival in High-Grade Serous Ovarian Cancer. [PDF]

open access: yes, 2019
The objective of this research was to develop a robust gene expression-based prognostic signature and scoring system for predicting overall survival (OS) of patients with high-grade serous ovarian cancer (HGSOC).
Hang, Bo   +8 more
core  

Processing SPARQL queries with regular expressions in RDF databases [PDF]

open access: yes, 2019
Background: As the Resource Description Framework (RDF) data model is widely used for modeling and sharing a lot of online bioinformatics resources such as Uniprot (dev.isb-sib.ch/projects/uniprot-rdf) or Bio2RDF (bio2rdf.org), SPARQL - a W3C ...
Han, WS   +6 more
core   +1 more source

Structural instability impairs function of the UDP‐xylose synthase 1 Ile181Asn variant associated with short‐stature genetic syndrome in humans

open access: yesFEBS Letters, EarlyView.
The Ile181Asn variant of human UDP‐xylose synthase (hUXS1), associated with a short‐stature genetic syndrome, has previously been reported as inactive. Our findings demonstrate that Ile181Asn‐hUXS1 retains catalytic activity similar to the wild‐type but exhibits reduced stability, a looser oligomeric state, and an increased tendency to precipitate ...
Tuo Li   +2 more
wiley   +1 more source

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