Search results for " genetic"

E163L HOMOZYGOUS DJ-1 MUTATION IN A FAMILY FROM SOUTHERN ITALY WITH AMIOTROPHIC LATERAL SCLEROSIS-PARKINSONISM-DEMENTIA COMPLEX.

2004

Caracterización molecular y análisis poblacional de la variabilidad del DNA mitocondrial del áfido Rhopalosiphum padi (Homoptera: Aphidiade)

1994

Bioactivation of the Fungal Phytotoxin 2,5-Anhydro-D-glucitol by Glycolytic Enzymesisan Essential Component of itsMechanism of Action

2002

An isolate of Fusarium solani, NRRL 18883, produces the natural phytotoxin 2,5-anhydro-ᴅ-glucitol (AhG). This fungal metabolite inhibited the growth of roots (I50 of 1.6 mᴍ), butit did nothave any in vitro inhibitory activity. The mechanism of action of AhG requires enzymatic phosphorylation by plant glycolytic kinases to yield AhG-1,6-bisphosphate (AhG-1,6- bisP), an inhibitor of Fru-1,6-bisP aldolase. AhG-1,6-bisP had an I50 value of 570 μᴍ on aldolase activity, and it competed with Fru-1,6-bisP for the catalytic site on the enzyme, with a Ki value of 103 μᴍ. The hydroxyl group on the anomeric carbon of Fru-1,6-bisP is required for the formation of an essential covalent bond to ζ amino fu…

Permian-Triassic Osteichthyes (bony fishes): diversity dynamics and body size evolution

2014

The Permian and Triassic were key time intervals in the history of life on Earth. Both periods are marked by a series of biotic crises including the most catastrophic of such events, the end-Permian mass extinction, which eventually led to a major turnover from typical Palaeozoic faunas and floras to those that are emblematic for the Mesozoic and Cenozoic. Here we review patterns in Permian-Triassic bony fishes, a group whose evolutionary dynamics are understudied. Based on data from primary literature, we analyse changes in their taxonomic diversity and body size (as a proxy for trophic position) and explore their response to Permian-Triassic events. Diversity and body size are investigate…

Autosomal recessive mutations inTHOC6cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping

2016

THOC6 is a part of the THO complex, which is involved in coordinating mRNA processing with export. The THO complex interacts with additional components to form the larger TREX complex (transcription export complex). Previously, a homozygous missense mutation in THOC6 in the Hutterite population was reported in association with syndromic intellectual disability. Using exome sequencing, we identified three unrelated patients with bi-allelic mutations in THOC6 associated with intellectual disability and additional clinical features. Two of the patients were compound heterozygous for a stop and a missense mutation, and the third was homozygous for a missense mutation; the missense mutations wer…

Genetic basis of trichome production in Arabidopsis lyrata.

2002

Leaf trichomes may protect plants against herbivorous insects, and may increase tolerance to drought and UV-radiation. The perennial herb Arabidopsis lyrata (Brassicaceae) is polymorphic for trichome production and occurs in a glabrous and trichome-producing form. In addition, there is quantitative variation in trichome density among trichome-producing plants. To examine the genetic basis of glabrousness, we conducted controlled crosses with plants originating from two natural populations in Sweden (one polymorphic for trichome-production, and one consisting of glabrous plants only). In addition, we estimated the heritability of trichome number from parent-offspring regressions for plants o…

Nitric oxide enhances Th9 cell differentiation and airway inflammation

2014

International audience; Th9 cells protect hosts against helminthic infection but also mediate allergic disease. Here we show that nitric oxide (NO) promotes Th9 cell polarization of murine and human CD4(+) T cells. NO de-represses the tumour suppressor gene p53 via nitrosylation of Mdm2. NO also increases p53-mediated IL-2 production, STAT5 phosphorylation and IRF4 expression, all essential for Th9 polarization. NO also increases the expression of TGFβR and IL-4R, pivotal to Th9 polarization. OVA-sensitized mice treated with an NO donor developed more severe airway inflammation. Transferred Th9 cells induced airway inflammation, which was exacerbated by NO and blocked by anti-IL-9 antibody.…

Validation of a set of reference genes to study response to herbicide stress in grasses

2012

Abstract Background Non-target-site based resistance to herbicides is a major threat to the chemical control of agronomically noxious weeds. This adaptive trait is endowed by differences in the expression of a number of genes in plants that are resistant or sensitive to herbicides. Quantification of the expression of such genes requires normalising qPCR data using reference genes with stable expression in the system studied as internal standards. The aim of this study was to validate reference genes in Alopecurus myosuroides, a grass (Poaceae) weed of economic and agronomic importance with no genomic resources. Results The stability of 11 candidate reference genes was assessed in plants res…

Centrosome amplification induced by hydroxyurea leads to aneuploidy in pRB deficient human and mouse fibroblasts.

2006

Alterations in the number and/or morphology of centrosomes are frequently observed in human tumours. However, it is still debated if a direct link between supernumerary centrosomes and tumorigenesis exists and if centrosome amplification could directly cause aneuploidy. Here, we report that hydroxyurea treatment induced centrosome amplification in both human fibroblasts expressing the HPV16 -E6-E7 oncoproteins, which act principally by targeting p53 and pRB, respectively, and in conditional pRB deficient mouse fibroblasts. Following hydroxyurea removal both normal and p53 deficient human fibroblasts arrested. On the contrary pRB deficient fibroblasts entered the cell cycle generating aneupl…

Novel Approaches for Glioblastoma Treatment: Focus on Tumor Heterogeneity, Treatment Resistance, and Computational Tools

2019

BACKGROUND: Glioblastoma (GBM) is a highly aggressive primary brain tumor. Currently, the suggested line of action is the surgical resection followed by radiotherapy and treatment with the adjuvant temozolomide (TMZ), a DNA alkylating agent. However, the ability of tumor cells to deeply infiltrate the surrounding tissue makes complete resection quite impossible, and in consequence, the probability of tumor recurrence is high, and the prognosis is not positive. GBM is highly heterogeneous and adapts to treatment in most individuals. Nevertheless, these mechanisms of adaption are unknown. RECENT FINDINGS: In this review, we will discuss the recent discoveries in molecular and cellular heterog…