Search results for "domain"

Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome.

2001

Basement membrane (BM) morphogenesis is critical for normal kidney function. Heterotrimeric type IV collagen, composed of different combinations of six alpha-chains (1-6), is a major matrix component of all BMs (ref. 2). Unlike in other BMs, glomerular BM (GBM) contains primarily the alpha 3(IV) and alpha 4(IV) chains, together with the alpha 5(IV) chain. A poorly understood, coordinated temporal and spatial switch in gene expression from ubiquitously expressed alpha 1(IV) and alpha 2(IV) collagen to the alpha 3(IV), alpha 4(IV) and alpha 5(IV) chains occurs during normal embryogenesis of GBM (ref. 4). Structural abnormalities of type IV collagen have been associated with diverse biological…

Dpp signaling inhibits proliferation in the Drosophila wing by Omb-dependent regional control of bantam

2013

The control of organ growth is a fundamental aspect of animal development but remains poorly understood. The morphogen Dpp has long been considered as a general promoter of cell proliferation during Drosophila wing development. It is an ongoing debate whether the Dpp gradient is required for the uniform cell proliferation observed in the wing imaginal disc. Here, we investigated how the Dpp signaling pathway regulates proliferation during wing development. By systematic manipulation of Dpp signaling we observed that it controls proliferation in a region-specific manner: Dpp, via omb, promoted proliferation in the lateral and repressed proliferation in the medial wing disc. Omb controlled th…

Time and frequency domain analysis of long-term heart rate variability in an experimental model of diet-induced metabolic syndrome

2021

Abstract Background Metabolic syndrome (MetS) is defined as the set of at least three of the following conditions: central obesity, elevation of triglycerides, decreased in high-density lipoproteins, systemic hypertension and glucose intolerance. MetS is linked with a high prevalence of cardiovascular disease, including sudden cardiac death and atrial arrhythmias, which may be a consequence of changes related to the structure, function and autonomic control of the heart. One of the underlying mechanisms responsible could be the alteration of sinus node automaticity. Heart rate variability (HRV) analysis is a useful non-invasive tool for evaluating alterations in neural control of cardiac au…

ANALYSIS OF RESPIRATORY SINUS ARRHYTHMIA MECHANISMS IN INFORMATION DOMAIN

2018

Sustained reentry in a 3d regionally ischemic human heart. A simulation study

2016

In this work, we have studied the vulnerable window and propagation patterns in a human heart during acute ischemia. A 3-D biventricular model of a human heart with realistic heterogeneity and fiber orientations has been considered. The ischemic region was located in the anterior left ventricular wall mimicking the occlusion of the circumflex artery. The electrical activity of the tissue was modeled with the monodomain model along with a modified version of the ten Tusscher 2006 ionic model. The model predicts the generation of sustained re-entrant activity in the form of a rotor around the ischemic zone. Patterns in the form of figure-of-eight were also observed within the vulnerable windo…

Regulated Proteolysis of RAGE and AβPP as Possible Link Between Type 2 Diabetes Mellitus and Alzheimer's Disease

2009

Epidemiological studies have linked type 2 diabetes mellitus (T2DM) with an increased risk of developing Alzheimer's disease (AD). In T2DM, the elevated blood glucose level promotes formation of advanced glycation end products (AGEs). The receptor for AGEs (RAGE) is a type I membrane-protein and is also able to import amyloid-beta (Abeta) from the blood across the blood-brain-barrier into the brain. Oligomeric Abeta peptides disturb synaptic function in the brain and are believed to contribute to the development of AD. Abeta peptides are released from the amyloid-beta protein precursor (AbetaPP) after sequential proteolysis by beta- and gamma-secretases but alpha-secretase-mediated cleavage…

Mutations in the NKX2.5 Gene and the PAX8 Promoter in a Girl with Thyroid Dysgenesis

2011

Screening of the known candidate genes involved in thyroid organogenesis has revealed mutations in a small subset of patients with congenital hypothyroidism due to thyroid dysgenesis (TD).We studied a girl with TD who had mutations in two transcription factors involved in thyroid development.Sequencing analysis of candidate genes involved in thyroid gland development revealed a new paternally inherited heterozygous mutation in the NKX2.5 gene (S265R) and a new maternally inherited heterozygous mutation in the PAX8 promoter region (-456CT). Both parents and a brother, who was also heterozygous for both mutations, were phenotypically normal. Immunofluorescence microscopy showed a correct nucl…

Preliminary in vivo positional analysis of a posterior chamber phakic intraocular lens by optical coherence tomography and its correlation with clini…

2012

Purpose: To analyze by spectral-domain optical coherence tomography the anatomical relationship of a specific type of posterior chamber phakic intraocular lens (pIOL) implanted in cases of high to moderate myopia with the adjacent intraocular structures and to correlate it with clinical outcomes. Methods: Prospective observational case series including 18 eyes with high to moderate myopia (spherical equivalent between −5.88 and −15.75 D) of 9 patients (age range, 29–49 years) undergoing bilateral Phakic Refractive Lens (PRL, Zeiss) implantation. Postoperative visual acuity, refraction, contrast sensitivity (CS), and ocular higher order aberrations (HOA) were evaluated. Furthermore, the in v…

Macular laser photocoagulation guided by spectral-domain optical coherence tomography versus fluorescein angiography for diabetic macular edema.

2011

Roberto Gallego-Pinazo1,2, Ana Marina Suelves-Cogollos1, Rosa Dolz-Marco1, J Fernando Arevalo3, Salvador García-Delpech1, J Luis Mullor4, Manuel Díaz-Llopis1,2,51Department of Ophthalmology, Hospital Universitario La Fe, Valencia, Spain; 2Centro de Investigación Biomédica en Red de Enfermedades Raras, Valencia, Spain; 3Retina and Vitreous Service, Clinical Ophthalmology Center, Caracas, Venezuela; 4Unit of Experimental Ophthalmology, Hospital Universitario La Fe, Valencia, Spain; 5University of Valencia, Faculty of Medicine, Valencia, SpainBackground: The aim of this study was to compare the efficacy of spectral-domain optical coherence tomography…

Towards the new spectral-domain optical coherence tomography based classification of age-related macular degeneration

2012

Abstract Introduction Age-related macular degeneration (AMD) is major social and health problem in industrialised societies. The contribution of the new diagnostic techniques, mainly spectral-domain optical coherence tomography (SD-OCT), has led to a better understanding of this disease. Aim To review the current clinical classification of AMD, to describe the new tomographic classification of wet AMD, and to review the new topographical findings in dry AMD. Development There are two classically described forms of AMD: dry and wet; there are also three progressive stages of severity: early, intermediate and advanced. This purely clinical stratification does not take into account any criteri…