Search results for "Inheritance"
showing 10 items of 160 documents
Autosomal recessive variations of TBX6 , from congenital scoliosis to spondylocostal dysostosis
2017
International audience; Proximal 16p11.2 microdeletions are recurrent microdeletions with an overall prevalence of 0.03%. In patients with segmentation defects of the vertebra (SDV), a burden of this microdeletion was observed with TBX6 as a candidate gene for SDV. In a published cohort of patients with congenital scoliosis (CS), TBX6 haploinsufficiency was compound heterozygous with a common haplotype. Besides, a single three-generation family with spondylocostal dysostosis (SCD) was reported with a heterozygous stop-loss of TBX6. These observations questioned both on the inheritance mode and on the variable expressivity associated with TBX6-associated SDV. Based on a national recruitment …
Deep-rooted “thick skinned” model for the High Atlas Mountains (Morocco). Implications for the structural inheritance of the southern Tethys passive …
2006
A re-interpretation of the deep structure of the High Atlas is presented through integration of geophysical and geological data, highlighting the architectural significance of the southern Tethys palaeomargin. Previous crustal models suggest the occurrence of a flat intra-crustal detachment at a depth of � 20 km, a zone where surface thrusts merge and below which the lower High Atlas crust appears continuous. However, within this study seismic refraction data, electrical resistivity surveys and gravity modelling all appear to detect a jump in crustal thickness between the High Atlas and the northern plains. We interpret these data as penetration by thrusts within the ‘‘South-Atlasic fault’’…
Brothers, sisters and the rearrangements of property on the Sicilian island of Stromboli in the nineteenth century
2010
This article focuses on property relationships among siblings, especially on sales and exchanges of land, houses and other items, on the small Sicilian island of Stromboli in the Aeolian archipelago during the nineteenth century. Stromboli's economy incorporated farming and seafaring activities. The ‘modular structure’ of houses and wealth was characterised by partible inheritance, with equal inheritance shares or endowments for both sons and daughters, which was permitted under the Civil Code of the Kingdom of the Two Sicilies. Siblings therefore had the possibility of exchanging, assembling and disposing of shares through sales. For this reason sibling relations had a strong impact on the…
Identification and prevention of genotyping errors caused by G-quadruplex- and i-motif-like sequences.
2009
Abstract Background: Reliable PCR amplification of DNA fragments is the prerequisite for most genetic assays. We investigated the impact of G-quadruplex– or i-motif–like sequences on the reliability of PCR-based genetic analyses. Methods: We found the sequence context of a common intronic polymorphism in the MEN1 gene (multiple endocrine neoplasia I) to be the cause of systematic genotyping errors by inducing preferential amplification of one allelic variant [allele dropout (ADO)]. Bioinformatic analyses and pyrosequencing-based allele quantification enabled the identification of the underlying DNA structures. Results: We showed that G-quadruplex– or i-motif–like sequences can reproducibly …
The polygenic nature of hypertriglyceridaemia: implications for definition, diagnosis, and management.
2014
Item does not contain fulltext Plasma triglyceride concentration is a biomarker for circulating triglyceride-rich lipoproteins and their metabolic remnants. Common mild-to-moderate hypertriglyceridaemia is typically multigenic, and results from the cumulative burden of common and rare variants in more than 30 genes, as quantified by genetic risk scores. Rare autosomal recessive monogenic hypertriglyceridaemia can result from large-effect mutations in six different genes. Hypertriglyceridaemia is exacerbated by non-genetic factors. On the basis of recent genetic data, we redefine the disorder into two states: severe (triglyceride concentration >10 mmol/L), which is more likely to have a mono…
Quantized Dissensus in switching networks with nodes death and duplication* *Research supported by MURST-PRIN “Robust Techniques for uncertain system…
2009
Abstract In this paper we discuss agents exchanging quantized flows to diverge one from the others according to a dissensus protocol. A Quantized Gossip algorithm is considered. Evolutions of the states during switching intervals and at switching instants and their property are described and analyzed. The modeling of switching systems describing networks where death and duplication processes occur is described. Some properties of the topology reached by the network when different rules of duplication and inheritance are implemented.
The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance
2018
IF 2.264; International audience; The oculoauriculofrontonasal syndrome (OAFNS) is a rare disorder characterized by the association of frontonasal dysplasia (widely spaced eyes, facial cleft, and nose abnormalities) and oculo-auriculo-vertebral spectrum (OAVS)-associated features, such as preauricular ear tags, ear dysplasia, mandibular asymmetry, epibulbar dermoids, eyelid coloboma, and costovertebral anomalies. The etiology is unknown so far. This work aimed to identify molecular bases for the OAFNS. Among a cohort of 130 patients with frontonasal dysplasia, accurate phenotyping identified 18 individuals with OAFNS. We describe their clinical spectrum, including the report of new features…
Inheritance patterns of photoperiodic diapause induction in Leptinotarsa decemlineata
2016
Photoperiod is a reliable indicator of season and an important cue that many insects use for phenological synchronization. Undergoing range expansion insects can face a change in the local photoperiod to which they need to resynchronize. Rapid range expansion can be associated with rapid photoperiodic adaptation, which can be associated with intense selection on strongly heritable polygenic traits. Alternatively, it is proposed that, in insects with an XO sex-determination system, genes with large effect residing on the sex chromosome could drive photoperiodic adaptation because the gene or genes are exposed to selection in the sex carrying only a single X-chromosome. The present study seek…
Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly
2021
International audience; 13q12.3 microdeletion syndrome is a rare cause of syndromic intellectual disability. Identification and genetic characterization of patients with 13q12.3 microdeletion syndrome continues to expand the phenotypic spectrum associated with it. Previous studies identified four genes within the approximately 300 Kb minimal critical region including two candidate protein coding genes: KATNAL1 and HMGB1. To date, no patients carrying a sequence-level variant or a single gene deletion in HMGB1 or KATNAL1 have been described. Here we report six patients with loss-of-function variants involving HMGB1 and who had phenotypic features similar to the previously described 13q12.3 m…
Population differentiation for adaptive traits and their underlying loci in forest trees : theoretical predictions and experimental results
2000
Population differentiation has been investigated in forest trees since provenance tests were established. A vast amount of results has accumulated in numerous reports and articles about intraspecific variation, that have been summarized in textbooks about forest genetics (Wright 1976). Provenance differences exist for almost any adaptive trait that has been measured in provenance test and for almost any species. These results contrast markedly with data based on biochemical markers as isozymes. As shown by the literature review by Hamrick et al. (1992), forest trees usually exhibit extremely low levels of differentiation for isozymes. Results derived from isozyme surveys are confirmed by ot…