Results 31 to 40 of about 2,293 (174)

Characterization of Two Distinct Structural Classes of Selective Aldehyde Dehydrogenase 1A1 Inhibitors. [PDF]

open access: yes, 2015
Aldehyde dehydrogenases (ALDH) catalyze the irreversible oxidation of aldehydes to their corresponding carboxylic acid. Alterations in ALDH1A1 activity are associated with such diverse diseases as cancer, Parkinson?s disease, obesity, and cataracts ...
Hurley, Thomas D., Morgan, Cynthia A.
core   +1 more source

Você conhece esta síndrome? Do you know this syndrome?

open access: yesAnais Brasileiros de Dermatologia, 2010
Relatamos um caso típico, em um paciente masculino de 20 anos, da síndrome de Sjögren-Larsson, que é uma doença neurocutânea, autossômica recessiva e incapacitante, caracterizada por ictiose congênita, plegia espástica e retardo mental.
Marcela Duarte Villela Benez   +3 more
doaj   +1 more source

Discovery of a series of aromatic lactones as ALDH1/2-directed inhibitors [PDF]

open access: yes, 2015
In humans, the aldehyde dehydrogenase superfamily consists of 19 isoenzymes which mostly catalyze the NAD(P)(+)-dependent oxidation of aldehydes.
Buchman, Cameron D.   +2 more
core   +1 more source

Effects of parabolic flight and spaceflight on the endocannabinoid system in humans [PDF]

open access: yes, 2012
The endocannabinoid system (ECS) plays an important role in the regulation of physiological functions, from stress and memory regulation to vegetative control and immunity.
Chouker, Alexander   +7 more
core   +1 more source

Fatty aldehyde dehydrogenase, the enzyme downstream of tetrahydrobiopterin-dependent alkylglycerol monooxygenase

open access: yesPteridines, 2013
The tetrahydrobiopterin-dependent degradation of ether lipids by alkylglycerol monooxygenase (AGMO) produces fatty aldehydes, which are toxic to cells.
Keller Markus A.   +4 more
doaj   +1 more source

Determinants and clinical implications of circulating fatty acids in individuals with chronic kidney disease [PDF]

open access: yes, 2013
Patients with chronic kidney disease (CKD) have a high risk of cardiovascular morbidity and mortality. Adding to traditional risk factors, e.g., Framingham risk factors, novel risk factors including inflammation, insulin resistance (IR) and metabolic ...
Huang, Xiaoyan
core   +1 more source

Primary Sjögren syndrome: report of a 10 years old girl with local edema and positivity of anti SS-A and anti SS-B autoantibodies

open access: yesReumatismo, 2011
Sjögren-Larsson syndrome (SLS) is an autoimmune disease, uncommon in childhood. We report a case of SLS in a 10-year-old girl with a history of tumor, calor and rubor in the back of her toes almost every month, which resolved in 4-5 days without therapy.
V. Gerloni   +4 more
doaj   +1 more source

Small touches to big walks –the impact of rehabilitation on Sjögren-Larsson syndrome: A case report

open access: yesJournal of Pediatric Rehabilitation Medicine, 2022
Sjögren-Larsson syndrome (SLS) is a rare neurocutaneous disorder characterized by the presence of congenital ichthyosis, spasticity, and mental retardation. As with other rare genetic diseases, treatment is mainly symptomatic.
Gunay Yolcu   +3 more
doaj   +1 more source

SJOGREN-LARSSON SYNDROME

open access: yesThe Professional Medical Journal, 2006
We present a case report of two brothers suffering from Sjogren-Larsson syndrome, who were bornto consanguineous parents. Sjogren-Larsson syndrome is one of the congenital icthyoses with an autosomal recessiveinheritance . It is characterized by the combination of 1 congenital ichthyosis with spastic diplegia, moderate mentalretardation and retinopathy.
FAWAD MUZAFFAR, MAJID SUHAIL
openaire   +2 more sources

Genetic basis of dental agenesis - molecular genetics patterning clinical dentistry [PDF]

open access: yes, 2013
Tooth agenesis is one of the most common congenital malformations in humans. Hypodontia can either occur as an isolated condition (non-syndromic hypodontia) or can be associated with a syndrome (syndromic hypodontia), highlighting the heterogeneity of ...
Chhabra, Anuj   +2 more
core   +1 more source

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