Results 91 to 100 of about 2,481,224 (301)

De novo 8p21.3→ p23.3 Duplication With t(4;8)(q35;p21.3) Translocation Associated With Mental Retardation, Autism Spectrum Disorder, and Congenital Heart Defects: Case Report With Literature Review

open access: yesFrontiers in Pediatrics, 2020
Duplications of chromosome 8p lead to rare genetic conditions characterized by variable phenotypes. 8p21 and 8p23 duplications were associated with mental retardation but only 8p23 duplication was associated with heart defects.
Cristina Gug   +8 more
doaj   +1 more source

De-novo Histoid Hansen cases

open access: yesJournal of Global Infectious Diseases, 2014
Histoid leprosy is a rare form of multibacillary leprosy with distinct clinical and histopathological features. It is a variant of lepromatous leprosy with a very high bacterial index. It appears in patients as a relapse after dapsone monotherapy, in the presence of dapsone resistance or rarely 'de-novo'.
Rita Vipul Vora   +4 more
openaire   +3 more sources

dUTPase is essential in zebrafish development and possesses several single‐nucleotide variants with pronounced structural and functional consequences

open access: yesFEBS Open Bio, EarlyView.
dUTPases are involved in balancing the appropriate nucleotide pools. We showed that dUTPase is essential for normal development in zebrafish. The different zebrafish genomes contain several single‐nucleotide variations (SNPs) of the dut gene. One of the dUTPase variants displayed drastically lower protein stability and catalytic efficiency as compared ...
Viktória Perey‐Simon   +6 more
wiley   +1 more source

Nonisomorphic and nonisotopic multidermatomal discoid lupus erythematosus – A rare subtype of cutaneous lupus erythematosus

open access: yesIndian Dermatology Online Journal, 2020
Discoid lupus erythematosus (DLE) is the most common variant of chronic cutaneous lupus erythematosus. Several cases of Blaschko-linear lupus erythematosus, which is regarded as a distinct subtype of lupus erythematosus, have been reported across the ...
Sanjiv Choudhary   +3 more
doaj   +1 more source

Understanding the Effects of Lactose Hydrolysis Modeling on the Main Oligosaccharides in Goat Milk Whey Permeate. [PDF]

open access: yes, 2019
Enzymatic hydrolysis of lactose is a crucial step to improve the efficiency and selectivity of membrane-based separations toward the recovery of milk oligosaccharides free from simple sugars.
Barile, Daniela   +5 more
core   +2 more sources

Anticancer sensitivities and biological characteristics of HCT116 cells resistant to the selective poly(ADP‐ribose) glycohydrolase inhibitor

open access: yesFEBS Open Bio, EarlyView.
We analyzed alterations of PAR metabolism‐related proteins in PARG inhibitor‐resistant HCT116RPDD cells. Although PARG levels remained unchanged, HCT116RPDD cells exhibited reduced PARP1 and ARH3 expression and elevated PAR levels. Interestingly, HCT116RPDD cells exhibited slightly elevated intracellular NAD+/NADH and ATP levels. Our findings suggest a
Kaede Tsuda, Yoko Ogino, Akira Sato
wiley   +1 more source

A minimal biochemical route towards de novo formation of synthetic phospholipid membranes. [PDF]

open access: yes, 2019
All living cells consist of membrane compartments, which are mainly composed of phospholipids. Phospholipid synthesis is catalyzed by membrane-bound enzymes, which themselves require pre-existing membranes for function.
Bhattacharya, Ahanjit   +3 more
core   +2 more sources

The role of lipid metabolism in neuronal senescence

open access: yesFEBS Open Bio, EarlyView.
Disrupted lipid metabolism, through alterations in lipid species or lipid droplet accumulation, can drive neuronal senescence. However, lipid dyshomeostasis can also occur alongside neuronal senescence, further amplifying tissue damage. Delineating how lipid‐induced senescence emerges in neurons and glial cells, and how it contributes to ageing and ...
Dikaia Tsagkari   +2 more
wiley   +1 more source

‘Don’t put your head under water’: enteric viruses in Brazilian recreational waters

open access: yesNew Microbes and New Infections, 2019
Like in many other countries, virologic analyses are not routinely performed in Brazil in monitoring water quality for recreational purposes. We surveyed current research regarding viral contamination of recreational water environments in Brazil.
V. Girardi   +3 more
doaj   +1 more source

An ANGPTL4-ceramide-protein kinase Cζ axis mediates chronic glucocorticoid exposure-induced hepatic steatosis and hypertriglyceridemia in mice. [PDF]

open access: yes, 2019
Chronic or excess glucocorticoid exposure causes lipid disorders such as hypertriglyceridemia and hepatic steatosis. Angptl4 (angiopoietin-like 4), a primary target gene of the glucocorticoid receptor in hepatocytes and adipocytes, is required for ...
Cheang, Rachel T   +11 more
core  

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