Search results for "Inheritance"

Dalla periferia al centro: I Notarbartolo duchi di Villarosa (secoli XVII-XVIII)

2012

Nella seconda metà del Seicento i Notarbartolo, grazie alle attività economiche e alle alleanze matrimoniali portate avanti da Francesco senior (1630-1704) e dai suoi due figli, Gaetano (1655-1705) e Placido senior (1657-1701), costruiscono il nucleo del proprio patrimonio fondiario e passano dalla condizione di possidenti e benestanti di Caltanissetta, alla condizione di feudatari di provincia insigniti di un titolo baronale e in possesso di tre feudi di cospicua estensione. La politica matrimoniale adottata mira all’accrescimento del patrimonio e del potere, attraverso la creazione di una rete di alleanze; talvolta i matrimoni garantiscono, tramite l’apporto delle doti, la solidità econom…

Broad spectrum of Fabry disease manifestation in an extended Spanish family with a new deletion in the GLA gene

2012

Background. Fabry disease (FD) is an X-linked inherited disease based on the absence or reduction of lysosomal-galactosidase (Gla) activity. The enzymatic defect results in progressive impairment of cerebrovascular, renal and cardiac function. Normally, female heterozygote mutation carriers are less strongly affected than male hemizygotes aggravating disease diagnosis. Method. Close examination of the patients by renal biopsy, echo- and electrocardiography and MRI. Blood work and subsequent DNA analysis were carried out utilizing approved protocols for PCR and Sequencing. MLPA analysis was done to unveil deletions within the GLA gene locus. Quantitative detection of Glycolipids in patient p…

Mobilité, droits et citoyenneté des femmes dans l’Italie médiévale et moderne

2016

In medieval and early modern Italy, women were excluded from political citizenship, but they were able to participate in various forms of belonging to a particular place. Geographical mobility affected the legal status of individuals, not only because of the various ways of distinguishing between citizens and foreigners, but also because the provisions of municipal law might differ from one place to another, especially regarding women’s status and rights, for example regarding property and inheritance. This essay illustrates the principal issues relating to women’s citizenship, and examines the reactions of both women and men to the multitude and variety of local statutory laws.

Low levels of relatedness on black grouse leks despite male philopatry

2008

In lekking species, males cluster on specific areas for display (the leks) and females generally prefer to copulate with males on large aggregations. The maintenance of leks in which only a few males reproduce might be explained if subordinate males gain indirect fitness benefits. By joining a lek on which relatives are displaying, subordinates might attract more females to the lek thereby increasing the mating opportunities of their kin. In black grouse, a genetic structure among leks has previously been found suggesting that relatives could display together. Using 11 microsatellite loci, we extended this result by testing for the presence of kin structures in nine black grouse leks (101 m…

Clinical relevance of polymorphic markers of arterial thrombosis.

1997

Case-control and cross-sectional studies show that some common molecular variations (polymorphisms) of genes coding for proteins involved in atherosclerosis and thrombosis are often present in subjects who have experienced cerebrovascular or cardiovascular events. The clinical impact of the majority of polymorphic markers is disputed by prospective reports. In contrast, their pathophysiological implications and their role in monitoring parameters that are difficult to be checked by alternative means, are documented by the large majority of the reports. From the evidence available, there may be suggestion for further impact of polymorphic markers in vascular medicine. To substantiate this, n…

Boris Ephrussi and the Synthesis of Genetics and Embryology

1991

The career of Boris Ephrussi (1901–1979) presents a series of fascinating perspectives on the intellectual and sociological difficulties that plagued those who wished to reconcile genetics and embryology during the middle of this century (2–8). Ephrussi was born in a suburb of Moscow, but spent much of his working career in France, with important periods in the United States. He made major contributions to the rapprochement between genetics and developmental biology. His work, which we believe has been undervalued both by historians of biology and by subsequent generations of biologists, is worth studying for at least three reasons: 1. Throughout his long career, he sought an adequate causa…

Confirmation of EP300 gene mutations as a rare cause of Rubinstein-Taybi syndrome.

2007

The Rubinstein-Taybi syndrome (RSTS, MIM 180849), a dominant Mendelian disorder with typical face, short stature, skeletal abnormalities, and mental retardation, is usually caused by heterozygous mutations of the CREBBP gene, but recently, EP300 gene mutations were reported in three individuals. Using quantitative PCR (for the CREBBP and EP300 genes) and genomic sequencing (for the EP300 gene), we studied here 13 patients who had shown no mutation after genomic sequencing of the CREBBP gene in a previous investigation. Two new disease-causing mutations were identified, including a partial deletion of CREBBP and a 1-bp deletion in EP300, c.7100delC (p.P2366fsX2401). The 1-bp deletion represe…

Histone-mediated transgenerational epigenetics

2019

Abstract Epigenetic mechanisms operate at the interface between the environment and genome, by converting the environmental stimuli to phenotypic responses through changes in the chromatin landscape, which ultimately affects gene expression in the absence of alterations in DNA sequence. In this scenario, transgenerational inheritance occurs when epigenetic variations induced by environmental stimuli are transmitted through the germ line to succeeding generations that had never experienced those stimuli. There is an ever-growing list of reports indicating that histones are fundamental players in these processes in a variety of organisms. In this chapter, we provide a perspective on histone-d…

Human blastocysts derived from monopronuclear zygotes: a biological model for the study of ploidy, euploidy, topography and heteroparental inheritance

2019

The clinical spectrum of alpha-L-iduronidase deficiency.

1985

We present five patients with alpha-L-iduronidase deficiency who do not have the typical Hurler or Scheie phenotypes; they are compared to 28 similarly atypical cases from the literature. Phenotypic differences are pointed out and intrafamilial similarities stressed. Among the various possible explanations for this situation, the existence of genetic compounds seems acceptable for some of the cases, but others seem to be caused by different mutations. The elucidation of these alternative possibilities from recent biochemical research is discussed.