Results 101 to 110 of about 2,808,934 (339)

LLC: critérios diagnósticos, imunofenotipagem e diagnóstico diferencial CLL: diagnostic criteria, immunophenotyping and differential diagnosis

open access: yesRevista Brasileira de Hematologia e Hemoterapia, 2005
O diagnóstico da LLC é baseado em dados do hemograma e da imunofenotipagem dos linfócitos periféricos: linfocitose acima de 5 (ou 10) x 10(9)/L com fenótipo CD19, CD5, CD23 e expressão fraca de imunoglobulinas de superfície monoclonais.
Irene Lorand-Metze
doaj   +1 more source

Ergothioneine supplementation improves pup phenotype and survival in a murine model of spinal muscular atrophy

open access: yesFEBS Letters, EarlyView.
Spinal muscular atrophy (SMA) is a genetic disease affecting motor neurons. Individuals with SMA experience mitochondrial dysfunction and oxidative stress. The aim of the study was to investigate the effect of an antioxidant and neuroprotective substance, ergothioneine (ERGO), on an SMNΔ7 mouse model of SMA.
Francesca Cadile   +8 more
wiley   +1 more source

Novel signaling pathways in pulmonary arterial hypertension (2015 Grover Conference Series) [PDF]

open access: yes, 2016
The proliferative endothelial and smooth muscle cell phenotype, inflammation, and pulmonary vascular remodeling are prominent features of pulmonary arterial hypertension (PAH).
Awad, Keytam S.   +3 more
core   +1 more source

Epigenetic Inheritance Across the Landscape

open access: yesFrontiers in Genetics, 2016
The study of epigenomic variation at the landscape-level in plants may add important insight to studies of adaptive variation. A major goal of landscape genomic studies is to identify genomic regions contributing to adaptive variation across the ...
Amy Vaughn Whipple, Liza Marie Holeski
doaj   +1 more source

Microbial exopolysaccharide production by polyextremophiles in the adaptation to multiple extremes

open access: yesFEBS Letters, EarlyView.
Polyextremophiles are microorganisms that endure multiple extreme conditions by various adaptation strategies that also include the production of exopolysaccharides (EPSs). This review provides an integrated perspective on EPS biosynthesis, function, and regulation in these organisms, emphasizing their critical role in survival and highlighting their ...
Tracey M Gloster, Ebru Toksoy Öner
wiley   +1 more source

A phenotypic and molecular characterization of the fmr1-tm1Cgr Fragile X mouse [PDF]

open access: yes, 2004
Fragile X Syndrome is the most common form of\ud inherited mental retardation. It is also known for having\ud a substantial behavioral morbidity, including autistic features. In humans, Fragile X Syndrome is almost always\ud caused by inactivation of the
Bauchwitz, Dr. Robert P.
core   +1 more source

ACSS2 involved in acetyl‐CoA synthesis regulates skeletal muscle function

open access: yesFEBS Letters, EarlyView.
The enzyme acyl‐coenzyme A synthetase short‐chain family member‐2 (ACSS2) catalyzes the conversion of acetate to acetyl‐CoA, but its function in skeletal muscle is unclear. We studied ACSS2 deficiency in mouse and fly models. Skeletal muscle from the mouse model showed atrophic fibers, excess lipid, and depleted NADH.
Mekala Gunasekaran   +6 more
wiley   +1 more source

Oxyhemoglobin Saturation Overshoot Following Obstructive Breathing Events Mitigates Sleep Apnea-Induced Glucose Elevations

open access: yesFrontiers in Endocrinology, 2018
Background: Obstructive sleep apnea (OSA) and nocturnal hypoxia are associated with disturbances in glucose regulation and diabetes. Temporal associations between OSA, oxygenation profiles and glucose have not been well-described.
Luu V. Pham   +2 more
doaj   +1 more source

C9orf72 ALS‐causing mutations lead to mislocalization and aggregation of nucleoporin Nup107 into stress granules

open access: yesFEBS Letters, EarlyView.
Mutations in the C9orf72 gene represent the most common genetic cause of amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disease. Using patient‐derived neurons and C. elegans models, we find that the nucleoporin Nup107 is dysregulated in C9orf72‐associated ALS. Conversely, reducing Nup107 levels mitigates disease‐related changes.
Saygın Bilican   +7 more
wiley   +1 more source

ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation. [PDF]

open access: yes, 2017
ObjectiveWe aimed to generate a review and description of the phenotypic and genotypic spectra of ARHGEF9 mutations.MethodsPatients with mutations or chromosomal disruptions affecting ARHGEF9 were identified through our clinics and review of the ...
Alber, Michael   +21 more
core  

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