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Enrichment of canalicular membrane with cholesterol and sphingomyelin prevents bile salt-induced hepatic damage
(AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC, 1999)
These studies were undertaken to characterize the role of plasma membrane cholesterol in canalicular secretory functions and hepatocyte integrity against intravenous taurocholate administration. Cholesterol and sphingomyelin ...
Relationship between adenosine deaminase polymorphism (c.22G > A) and oxidative stress in sickle cell anemia
(2017-02-01)
The aim of this study was to identify, in people with sickle cell anemia (SCA), adenosine deaminase (ADA; c. 22G > A; rs73598374) polymorphism, and correlating it with oxidative stress markers. We evaluated 95 unrelated ...
Adult hippocampal neurogenesis impairment at preplaque stage in a transgenic rat model of Alzheimer like amyloid pathology
(Wiley Blackwell Publishing, Inc, 2019)
The contribution of adult hippocampal neurogenesis (AHN) impairment on cognitive decline in early Alzheimer disease (AD) remains poorly understood. This can be ascribed to the technical difficulties to measure AHN in ...
Loci Polymorphisms of the APOBEC3G Gene in HIV Type 1-Infected Brazilians
(Mary Ann Liebert Inc, 2011-02-01)
The human APOBEC3G (A3G) protein activity obstructs retrovirus infection by inducing mutations of guanosines to adenosines (G -> A) in the viral DNA. These G -> A mutations may disrupt the reading frames of the viral genes. ...
GH-Releasing Hormone Receptor Gene: A Novel Splice-Disrupting Mutation and Study of Founder Effects
(KARGERBASEL, 2012)
Background: Mutations in GH-releasing hormone receptor gene (GHRHR) are emerging as the most common cause of autosomal recessive isolated GH deficiency (IGHD). Objective: To search for GHRHR mutations in patients with ...
Arabidopsis phosphatidylinositol-phospholipase C2 (PLC2) is required for female gametogenesis and embryo development
(Springer, 2017-04)
Main conclusion: AtPLC2is an essential gene in Arabidopsis, since it is required for female gametogenesis and embryo development. AtPLC2 might play a role in cell division during embryo-sac development and early embryogenesis. ...
Extraadrenal 21-Hydroxylation by CYP2C19 and CYP3A4: Effect on 21-Hydroxylase Deficiency
(ENDOCRINE SOC, 2009)
Context: 21-Hydroxylase deficiency (21OHD) is caused by CYP21A2 gene mutations disrupting the adrenal 21-hydroxylase, P450c21. CYP21A2 mutations generally correlate well with the 21OHD phenotype, but some children with ...
The Impact of Apolipoprotein E Allelic Variants on Alzheimer´s Disease
(Springer Nature Switzerland AG, 2021)
Alzheimer disease (AD) is a genetically and clinically complex neurodegenerative disease, often with decades-long preclinical and prodromal stages. In older adults, it is the most frequent form of dementia. Apolipoprotein ...
Adrenergic and Endothelin B Receptor-Dependent Hypertension in Dopamine Receptor Type-2 Knockout Mice
(Lippincott Williams, 2001-09)
Polymorphism of the dopamine receptor type-2 (D2) gene is associated with essential hypertension. To assess whether D2 receptors participate in regulation of blood pressure (BP), we studied mice in which the D2 receptor ...
Zebrafish yolk-specific not really started (nrs) gene is a vertebrate homolog of the drosophila spinster gene and is essential for embryogenesis
(2002)
By using retroviral insertional mutagenesis in zebrafish, we have identified a recessive lethal mutation in the not really started (nrs) gene. The nrs mutation disrupts a gene located in linkage group 3 that is highly ...