Search results for "genetics [Transcriptome]"
showing 10 items of 3033 documents
STIM1, CD36 lingual et perception gustative lipidique
2012
> Selon l’Organisation mondiale de la sante (OMS) [1], l’obesite atteint des proportions epidemiques dans le monde, avec plus de 1,6 milliards d’adultes en surpoids et au moins 500 millions de personnes cliniquement obeses. Globalement, un adulte sur dix est obese dans le monde. Cette situation a des consequences importantes en termes de sante publique. En effet, l’obesite, particulierement l’obesite viscerale, est un facteur de risque de pathologies telles que le diabete de type II, les atteintes cardiovasculaires, l’hypertension et certaines formes de cancers [2]. Bien qu’il existe un determinisme genetique, les facteurs environnementaux dont l’alimentation jouent un role important dans l…
Precision medicine in breast cancer: reality or utopia?
2017
International audience; Many cancers, including breast cancer, have demonstrated prognosis and support advantages thanks to the discovery of targeted therapies. The advent of these new approaches marked the rise of precision medicine, which leads to improve the diagnosis, prognosis and treatment of cancer. Precision medicine takes into account the molecular and biological specificities of the patient and their tumors that will influence the treatment determined by physicians. This new era of medicine is accessible through molecular genetics platforms, the development of high-speed sequencers and means of analysis of these data. Despite the spectacular results in the treatment of cancers inc…
To die or not to die ? un modèle de la signalisation dichotomique de TNF-R1
2004
1. Kurotaki N, Imaizumi K, Harada N, et al. Haplo insufficiency of NSD1 causes Sotos syndrome. Nature 2002 ; 30 : 305-6. 2. Douglas J, Hanks S, Temple K, et al. NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgroth phenotypes. Am J Hum Genet 2003 ; 27 : 132-43. 3. Rio M, Clech L, Amiel J, et al. Spectrum of NSD1 mutations in Sotos and Weaver syndromes. J Med Genet 2003 ; 40 : 436-40. 4. Imaizumi K, Kimura J, Matsuo M, et al. Sotos syndrome associated with a de novo balanced reciprocal translocation t(5 ;8)(q35 ;q24.1). Am J Hum Genet 2002 ; 107 : 58-60. 5. Opitz JM, Weaver DW, Reynolds JF. The syndrome of Sotos and We…
Neolithic mitochondrial haplogroup H genomes and the genetic origins of Europeans
2013
Brotherton, Paul et al.-- The Genographic Consortium
TAF-ChIP: an ultra-low input approach for genome-wide chromatin immunoprecipitation assay
2019
The authors present a novel method for obtaining chromatin profiles from low cell numbers without prior nuclei isolation. The method is successfully implemented in generating epigenetic profile from 100 cells with high signal-to-noise ratio.
De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL-like association and analysis of E…
2013
Item does not contain fulltext Anorectal malformations (ARMs) comprise a broad spectrum of conditions ranging from mild anal anomalies to complex cloacal malformations. In 40-50% of cases, ARM occurs within the context of defined genetic syndromes or complex multiple congenital anomalies, such as VATER/VACTERL (vertebral defects [V], ARMs [A], cardiac defects [C], tracheoesophageal fistula with or without esophageal atresia [TE], renal malformations [R], and limb defects [L]) association. Here, we report the identification of deletions at chromosome 13q using single nucleotide polymorphism-based array analysis in two patients with mild ARM as part of VATER/VACTERL and VATER/VACTERL-like ass…
Immune activation promotes evolutionary conservation of T-cell epitopes in HIV-1.
2013
The immune system should constitute a strong selective pressure promoting viral genetic diversity and evolution. However, HIV shows lower sequence variability at T-cell epitopes than elsewhere in the genome, in contrast with other human RNA viruses. Here, we propose that epitope conservation is a consequence of the particular interactions established between HIV and the immune system. On one hand, epitope recognition triggers an anti-HIV response mediated by cytotoxic T-lymphocytes (CTLs), but on the other hand, activation of CD4(+) helper T lymphocytes (TH cells) promotes HIV replication. Mathematical modeling of these opposite selective forces revealed that selection at the intrapatient l…
Novel transmembrane topology of the hepatitis B virus envelope proteins.
1995
Abstract The small (S), middle (M) and large (L) envelope proteins of the hepatitis B virus (HBV) are initially synthesized as multispanning membrane proteins of the endoplasmic reticulum membrane. We now demonstrate that all envelope proteins synthesized in transfected cells or in a cell-free system adopt more than one transmembrane orientation. The L protein disposes its N-terminal preS domain both to the cytoplasmic and the luminal side of the membrane. This unusual topology does not depend on interaction with the viral nucleocapsid, but is preserved in secreted empty envelope particles. Pulse-chase analysis suggests a novel process of post-translational translocation leading to the non-…
Lipid Droplets in the Pathogenesis of Hereditary Spastic Paraplegia
2021
Hereditary spastic paraplegias (HSPs) are genetically heterogeneous conditions caused by the progressive dying back of the longest axons in the central nervous system, the corticospinal axons. A wealth of data in the last decade has unraveled disturbances of lipid droplet (LD) biogenesis, maturation, turnover and contact sites in cellular and animal models with perturbed expression and function of HSP proteins. As ubiquitous organelles that segregate neutral lipid into a phospholipid monolayer, LDs are at the cross-road of several processes including lipid metabolism and trafficking, energy homeostasis, and stress signaling cascades. However, their role in brain cells, especially in neurons…
Pelvic girdle pain affects the whole life—A qualitative interview study in Norway on women’s experiences with pelvic girdle pain after delivery
2014
Background The aim of this study was to explore how pelvic girdle pain after delivery influences women’s daily life in Norway. Knowledge about living with post-partum pelvic girdle pain is lacking. Method A phenomenological–hermeneutical design with qualitative semi-structured interviews was used. A strategic selection procedure was chosen to recruit participants from physiotherapy clinics and a regional hospital in Norway. Five women with clinically verified pelvic girdle pain after delivery were included. Data were imported into NVivo9 and analysed in three steps: naïve reading, structural analysis and comprehensive understanding of the text. Results Three themes influencing the women’s d…