Results 81 to 90 of about 267,445 (243)

A Novel NR3C1 Frameshift Variant Associated With Familial Glucocorticoid Resistance Syndrome: An Integrated Analysis of Steroid Profiling and Structural Modeling

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucocorticoid resistance syndrome (GRS) is a rare hereditary disorder caused by pathogenic variants in NR3C1, characterized by marked phenotypic heterogeneity and frequent misdiagnosis as primary aldosteronism or subclinical Cushing's syndrome.
Sufang Yun   +7 more
wiley   +1 more source

Differential Diagnosis of Mucopolysaccharidoses Types I, II, III, IVA, and VI Through Analysis of Leukocytic Inclusions

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mucopolysaccharidoses (MPS) are lysosomal storage disorders characterized by the accumulation of glycosaminoglycans (GAGs), which can lead to cytoplasmic alterations in leukocytes. The objective of this study was to characterize leukocyte inclusions in patients with different types of MPS and assess their diagnostic relevance.
Márcio A. W. Melo   +5 more
wiley   +1 more source

Anticoagulant heparan sulfate: structural specificity and biosynthesis [PDF]

open access: yes, 2007
Heparan sulfate (HS) is present on the surface of endothelial and surrounding tissues in large quantities. It plays important roles in regulating numerous functions of the blood vessel wall, including blood coagulation, inflammation response and cell ...
Liu, Jian, Pedersen, Lars C.
core   +1 more source

Regulation of pathologic retinal angiogenesis in mice and inhibition of VEGF-VEGFR2 binding by soluble heparan sulfate.

open access: yesPLoS ONE, 2010
Development of the retinal vascular network is strictly confined within the neuronal retina, allowing the intraocular media to be optically transparent. However, in retinal ischemia, pro-angiogenic factors (including vascular endothelial growth factor-A,
Koji M Nishiguchi   +4 more
doaj   +1 more source

Cell Surface Glycosaminoglycans as Receptors for Adhesion of Candida spp. to Corneal Cells

open access: yesPolish Journal of Microbiology, 2022
The most common causal agents of fungal keratitis are yeasts of the Candida genus. Adhesion constitutes the first stage of pathogenesis. Previous studies have shown that glycosaminoglycans from the corneal cell surface play an essential role in bacterial
Ordiales Helena   +5 more
doaj   +1 more source

Enzymatic Placement of 6- O -Sulfo Groups in Heparan Sulfate [PDF]

open access: yes, 2011
Heparan sulfate is a highly sulfated polysaccharide that exhibits important physiological and pathological functions. The glucosamine residue of heparan sulfate can carry sulfo groups at the 2-N-, 3-O- and 6-O- positions, leading to diverse ...
Liu, Renpeng, Liu, Jian
core   +1 more source

Heparan sulfates and heparins: similar compounds performing the same functions in vertebrates and invertebrates? [PDF]

open access: yesBrazilian Journal of Medical and Biological Research, 1999
The distribution and structure of heparan sulfate and heparin are briefly reviewed. Heparan sulfate is a ubiquitous compound of animal cells whose structure has been maintained throughout evolution, showing an enormous variability regarding the relative ...
H.B. Nader   +14 more
doaj   +1 more source

Control of cell division in the adult brain by heparan sulfates in fractones and vascular basement membranes [PDF]

open access: yes, 2010
Regulation of cell division in adult tissues and organs requires the coordination of growth factors at the surface of potentially-dividing cells in specific anatomic loci named germinal niches.
Frederic Mercier, Vanessa Douet
core  

Expanding the 3- O -Sulfate Proteome—Enhanced Binding of Neuropilin-1 to 3- O -Sulfated Heparan Sulfate Modulates Its Activity [PDF]

open access: yes, 2016
Binding of proteins to heparan sulfate is driven predominantly by electrostatic interactions between positively charged amino acid residues in the protein and negatively charged sulfate groups located at various positions along the polysaccharide chain ...
Vander Kooi, Craig W.   +12 more
core   +1 more source

Recent Advances in Virus–Host Interactions, Antiviral Bioactive Compounds, and Breeding for Disease Resistance of Porcine Epidemic Diarrhea Virus

open access: yesAnimal Research and One Health, EarlyView.
Basic research on the PEDV infection cycle and virus–host interactions advances the development of anti‐PEDV drugs and disease‐resistant breeding and helps strengthen disease prevention and control while reducing economic losses in the swine industry.
Heyong Wu   +8 more
wiley   +1 more source

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