Search results for "DELE"

De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome

2010

International audience; Interstitial deletions involving the 15q21.1 band are very rare. Only 4 of these cases have been studied using molecular cytogenetic techniques in order to confirm the deletion of the whole FBN1 gene. The presence of clinical features of the Marfan syndrome (MFS) spectrum associated with mental retardation has been described in only 2/4 patients. Here we report on a 16-year-old female referred for suspicion of MFS (positive thumb and wrist sign, scoliosis, joint hyperlaxity, high-arched palate with dental crowding, dysmorphism, mitral insufficiency with dystrophic valve, striae). She had therefore 3 minor criteria according to the Ghent nosology. She also had speech …

Identification of two novel polymorphisms and a rare deletion variant in the human dopamine D4 receptor gene

1995

We report two novel polymorphisms and a rare deletion variant in the human dopaine D4 receptor gene. The two polymorphisms are characterized by single base pair substitutions, namely a G-->C transversion changing codon 11 from GGG (encoding Gly) to CGG (encoding Arg) and a C-->T transition in position -11 upstream from the start codon. The Arg11 variant occurs at a frequency of about 1% and the C-->T transition at a frequency of about 7% in German control subjects (n = 148). Allele frequencies observed in patients suffering from schizophrenia (n = 256) and bipolar affective disorder (n = 99) were similar. The deletion variant is characterized by a 21 bp deletion affecting codons 36 to 42 co…

Deletion of Chromosome 11q Predicts Response to Anthracycline-Based Chemotherapy in Early Breast Cancer

2007

Abstract Despite the recent consensus on the eligibility of adjuvant systemic therapy in patients with lymph node–negative breast cancer (NNBC) based on clinicopathologic criteria, specific biological markers are needed to predict sensitivity to the different available therapeutic options. We examined the feasibility of developing a genomic predictor of chemotherapy response and recurrence risk in 185 patients with NNBC using assembled arrays containing 2,460 bacterial artificial chromosome clones for scanning the genome for DNA copy number changes. After surgery, 90 patients received anthracycline-based chemotherapy, whereas 95 did not. Tamoxifen was administered to patients with hormone r…

Wilms' tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas

2012

Nephroblastoma (Wilms' tumor; WT) is the most common renal tumor of childhood. To date, several genetic abnormalities predisposing to WT have been identified in rare overgrowth syndromes. Among them, abnormal methylation of the 11p15 region, GPC3 and DIS3L2 mutations, which are responsible for Beckwith-Wiedemann, Simpson-Golabi-Behmel and Perlman syndromes, respectively. However, the underlying cause of WT remains unknown in the majority of cases. We report three unrelated patients who presented with WT in addition to a constitutional 9q22.3 microdeletion and dysmorphic/overgrowth syndrome. The size of the deletions was variable (ie, from 1.7 to 8.9 Mb) but invariably encompassed the PTCH1 …

Liberaali välttämättömyys ja paljaan elämän politiikka

2010

CCR5 Receptor: Biologic and Genetic Implications in Age-Related Diseases

2007

The CC chemokine receptor 5 (CCR5) is a member of CC-chemokine receptor family. CCR5 has the characteristic structure of a seven transmembrane G protein-coupled receptor (GPCR), which regulates trafficking and effector functions of memory/effector Th1 cells, macrophages, NK cells, and immature dendritic cells. CCR5 and its ligands are important molecules in viral pathogenesis. CCR5 represents the co-receptor for macrophage (M) and dual (T cell and M)-tropic immunodeficiency viruses. Recent evidence has also demonstrated the role of CCR5 in a variety of human diseases, ranging from infectious and inflammatory diseases to cancer. In this article, we describe the involvement of CCR5 in two age…

Wine yeast sirtuins and Gcn5p control aging and metabolism in a natural growth medium.

2012

Grape juice fermentation by wine yeast is an interesting model to understand aging under conditions closer to those in nature. Grape juice is rich in sugars and, unlike laboratory conditions, the limiting factor for yeast growth is nitrogen. We tested the effect of deleting sirtuins and several acetyltransferases to find that the role of many of these proteins during grape juice fermentation is the opposite to that under standard laboratory aging conditions using synthetic complete media. For instance, . SIR2 deletion extends maximum chronological lifespan in wine yeasts grown under laboratory conditions, but shortens it in winemaking. Deletions of sirtuin . HST2 and acetyltransferase . GCN…

Mitä mieltä, professorit?

2006

25 vuoden ikään ehtinyt Aikuiskasvatus kysyi kaikilta aikuiskasvatuksen professoreiltamme heidän näkemyksiään neljässä asiassa. Kaikkiin ei tarvinnut vastata. Tällaista kysyttiin ja näin vastasivat Yrjö Engeström ja Reijo Miettinen Helsingin yliopistosta, Anneli Eteläpelto Jyväskylän yliopistosta, Jukka Tuomisto ja Juha Suoranta Tampereen yliopistosta, Risto Rinne Turun yliopistosta, Kari E. Nurmi Lapin yliopistosta sekä vt:nä virkaa hoitava Leena Ahteenmäki-Pelkonen Joensuun yliopistosta. Vastausjärjestys on arvottu.

Mujer, poder político y democracia paritaria. “Mujer y representación política institucional en la Comunidad Valenciana. 1977-1995. 2 parte.

2014

Mujer, poder político y democracia paritaria. “Mujer y representación política institucional en la Comunidad Valenciana. 1977-1995. 2 parte. En esta segunda parte se recogen las mujeres que han formado parte de la Administración Local (alcaldesas, diputadas provinciales y FVMP), en los sindicatos, asi como en otras instituciones: Consell Valencià de Cultura, Consejo de Radiotelevisión Valenciana, Sindicatura de Agravios, Academia Valenciana de la Lengua, universidades, direcciones de partidos políticos, y otras organizaciones de la Comunidad Valenciana. “Mujer y representación política institucional en la Comunidad Valenciana. 1977-1995. Diputadas, ministras y cargos institucionales” es la …

Faldaprevir (BI 201335), BI 207127 and ribavirin oral therapy for treatment-naive HCV genotype 1: SOUND-C1 final results

2013

Background Faldaprevir (BI 201335) and deleobuvir (BI 207127) are direct-acting antiviral agents under development for the treatment of chronic HCV infection. This article describes the final results of the Phase Ib SOUND-C1 study that evaluated the interferon-free oral combination of faldaprevir, deleobuvir and ribavirin in 32 treatment-naive patients infected with HCV genotype 1. Methods Patients were randomized to receive deleobuvir 400 mg ( n=15) or 600 mg ( n=17) three times daily plus faldaprevir 120 mg once daily and weight-based ribavirin for 4 weeks. Interferon-free therapy was followed by response-guided faldaprevir plus pegylated interferon-α2a/ribavirin to week 24 or 48. Results…