Search results for "Inheritance"

Genetic Pattern and Haemorheological Determinants in Type 1 Diabetics

2016

Mechanisms involved in the transmission of epigenetic deregulation : analyses of transmission in human sperm

2018

The notion that environmental exposure can be memorized and promote epimutation (defined as defects on DNA methylation) raises the question of possible epigenetic transgenerational transmission in humans. To address whether an epimutation could be transmitted in humans, we pursued two axes. First, the evaluation of intergenerational transmission in the family of a Silver-Russell patient has shown, for the first time, the efficiency of epigenetic reprogramming in humans, specifically on imprinted regions. Indeed, no imprinted defect on causal H19/IGF2 locus was detected in the patient’s spermatozoa or in the DNA of his daughter. The second axis was to assess the presence of sperm epimutation…

Heritability of Intraocular Pressure in Older Female Twins

2006

Purpose To examine the heritability of intraocular pressure (IOP) among older women not diagnosed as having glaucoma. Design Cross-sectional twin study. Participants 94 monozygotic (MZ) and 96 dizygotic (DZ) female twin pairs aged 63–76 years and not diagnosed as having glaucoma. Methods Intraocular pressure was measured using a noncontact tonometer. The contributions of genetic and environmental factors to individual differences in IOP were estimated by applying an independent pathway model to twin data. Main Outcome Measures Contribution of genetic and environmental effects to the variation in IOP among MZ and DZ twins. Results Mean IOP of the study population was 14.1 mmHg (± standard de…

The Impact of Java Applications at Microarchitectural Level from Branch Prediction Perspective

2009

The portability, the object-oriented and distributed programming models, multithreading support and automatic garbage collection are features that make Java very attractive for application developers. The main goal of this paper consists in pointing out the impact of Java applications at microarchitectural level from two perspectives: unbiased branches and indirect jumps/calls, such branches limiting the ceiling of dynamic branch prediction and causing significant performance degradation. Therefore, accurately predicting this kind of branches remains an open problem. The simulation part of the paper mainly refers to determining the context length influence on the percentage of unbiased bran…

Rapid detection of an Angiotensin Type 2 Receptor Gene variant: no evidence for linkage and association with primary vesicoureteral reflux

2000

Primary vesicoureteral reflux (VUR) affects approximately 1−2% of the general population and is a common cause of end-stage renal failure in children. VUR appears to have a genetic basis and several loci including the Angiotensin Type 2 Receptor Gene (AGTR2) on the X chromosome have been suggested. Using single-strand conformation analysis (SSCA) we typed 103 DNA samples from 17 families with two or more affected individuals for the presence of a splice site mutation in the AGTR2 gene. Linkage analysis revealed a parametric LOD score of −3.977 and a NPL-score of −6,522 by affected-only analysis. Our family-data do not support linkage of VUR to the AGTR2.

Immune-mediated change in the expression of a sexual trait predicts offspring survival in the wild.

2011

9 pages; International audience; BACKGROUND: The "good genes" theory of sexual selection postulates that females choose mates that will improve their offspring's fitness through the inheritance of paternal genes. In spite of the attention that this hypothesis has given rise to, the empirical evidence remains sparse, mostly because of the difficulties of controlling for the many environmental factors that may covary with both the paternal phenotype and offspring fitness. Here, we tested the hypothesis that offspring sired by males of a preferred phenotype should have better survival in an endangered bird, the houbara bustard (Chlamydotis undulata undulata). METHODOLOGY/PRINCIPAL FINDINGS: We…

Sobre las recurrencias, especialmente fónicas, de la poesía indoeuropea

2014

La presente nota subraya la existencia en diversas literaturas indoeuropeas de recurrencias fonológicas, morfológicas, sintácticas y léxicas que remiten a una herencia común. Caso especial es el de la literatura griega, en la que dichas recurrencias han sido tildadas de escasas en presencia y relevancia, si bien el testimonio de los textos desmiente dicha reserva.

Polyphased mesozoic rifting from the Atlas to the north-west Africa paleomargin

2021

24 pages; International audience; Based on the interpretation of geological maps, seismic reflection and well data complemented with a bibliographic compilation and field work in the Rif, we investigate the factors that control the rift initiation, its development and the formation of oceanic crust in NW Africa. From SE to NW, we examine the Western Sahara Atlas, the Tendrara, the Guercif, and the Rif basins, to establish their geodynamic evolution in relation with the Mesozoic formation of the Central Atlantic and Maghrebian Tethys oceans, respectively. The Triassic extension was diffuse and developed over Lower Carboniferous horst-and-graben structures formed in the NW passive margin of G…

WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome

2018

International audience; Locus heterogeneity characterizes a variety of skeletal dysplasias often due to interacting or overlapping signaling pathways. Robinow syndrome is a skeletal disorder historically refractory to molecular diagnosis, potentially stemming from substantial genetic heterogeneity. All current known pathogenic variants reside in genes within the noncanonical Wnt signaling pathway including ROR2, WNT5A, and more recently, DVL1 and DVL3. However, ∼70% of autosomal-dominant Robinow syndrome cases remain molecularly unsolved. To investigate this missing heritability, we recruited 21 families with at least one family member clinically diagnosed with Robinow or Robinow-like pheno…

Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional …

2016

International audience; BACKGROUND: Myotonic Dystrophy type 1 (DM1) is one of the most heterogeneous hereditary disease in terms of age of onset, clinical manifestations, and severity, challenging both medical management and clinical trials. The CTG expansion size is the main factor determining the age of onset although no factor can finely predict phenotype and prognosis. Differences between males and females have not been specifically reported. Our aim is to study gender impact on DM1 phenotype and severity.METHODS: We first performed cross-sectional analysis of main multiorgan clinical parameters in 1409 adult DM1 patients (\textgreater18y) from the DM-Scope nationwide registry and obser…