Search results for "phenotype"
showing 10 items of 1875 documents
Can we compare haemophilia carriers with clotting factor deficiency to male patients with mild haemophilia?
2020
Introduction Certain haemophilia carriers demonstrate an increased bleeding tendency, mainly related to clotting factor deficiency. No study has so far formally compared the bleeding phenotype of women and girls with mild FVIII or FIX deficiency and associated management with that of male patients affected by mild haemophilia A and B. Material and methods We retrospectively evaluated 44 women and girls with mild FVIII or FIX deficiency (FVIII or FIX 0.05-0.5 IU/mL) and 77 male patients with mild haemophilia A or B and compared them with respect to clotting factor level, age at and trigger for diagnosis, as well as treatment modalities. Results After excluding gender-related haemorrhagic sym…
A study on the degree of relationship between two individuals.
2000
The paper studies the likely degree of relationship between two individuals who could possibly be half sibs. The possible common ancestor was dead, which further complicated the problem. The model used was devised by Thompson [in Rao and Chakraborty (eds): Handbook of Statistics, North-Holland, Amsterdam, 1991] and establishes a correspondence between the possible degree of relationship and certain feasible probability distributions on the number of identical by descent genes. Two statistical approaches are considered: the classical one, in which the maximum likelihood estimation for the parameters of Thompson’s model are obtained, and the Bayesian one, in which the test of the hypothesis o…
Phenotypic analysis of adults and eggs of Fasciola hepatica by computer image analysis system
2005
AbstractKnowledge of the morphological phenotypes of the liver fluke Fasciola hepatica (Trematoda: Digenea) is analysed. The influence of parasite age on its dimensions, the adult fluke growth model, variation in a biometric variable versus time, and variation in a biometric variable versus another biometric variable (allometric model) are revised. The most useful allometric model appears to be (y2m]#x2212;y2)/y2=c [(y1m−y1)/y1]b, where y1=body area or body length, y2=one of the measurements analysed, y1m, y2m=maximum values towards which y1 and y2, respectively, tend, and c, b=constants. A method based on material standardization, the measurement proposal and allometric analysis is detaile…
Interactions between dietary n-3 fatty acids and genetic variants and risk of disease
2012
Nutritional genomics has undergone rapid development and the concept is now very popular with the general public. Therefore, there is increasing demand for knowledge on adapting dietary composition to the genome. Our aim has been to undertake a systematic review so as to find out the level of evidence existing on whether the effects of n-3 fatty acids on health can be modulated by genetic variation. A systematic literature search was conducted on studies that jointly analyse the effect of one or more genetic variants in candidate genes and n-3 fatty acids. Both observational and experimental studies were included. Results are classified in accordance with whether the study was undertaken on…
The consequences of regulation of desat1 expression for pheromone emission and detection in Drosophila melanogaster.
2010
AbstractSensory communication depends on the precise matching between the emission and the perception of sex- and species-specific signals; understanding both the coevolutionary process and the genes involved in both production and detection is a major challenge. desat1 determines both aspects of communication—a mutation in desat1 simultaneously alters both sex pheromone emission and perception in Drosophila melanogaster flies. We investigated whether the alteration of pheromonal perception is a consequence of the altered production of pheromones or if the two phenotypes are independently controlled by the same locus. Using several genetic tools, we were able to separately manipulate the tw…
The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.
2009
International audience; Congenital contractural arachnodactyly (CCA) is an extremely rare disease, due to mutations in the FBN2 gene encoding fibrillin-2. Another member of the fibrillin family, the FBN1 gene, is involved in a broad phenotypic continuum of connective-tissue disorders including Marfan syndrome. Identifying not only what is in common but also what differentiates these two proteins should enable us to better comprehend their respective functions and better understand the multitude of diseases in which these two genes are involved. In 1995 we created a locus-specific database (LSDB) for FBN1 mutations with the Universal Mutation Database (UMD) tool. To facilitate comparison of …
RNA sequencing-based transcriptome profiling of cardiac tissue Implicados novela putative disease mechanisms in FLNC-associated arrhythmogenic cardio…
2020
Arrhythmogenic cardiomyopathy (ACM) encompasses a group of inherited cardiomyopathies including arrhythmogenic right ventricular cardiomyopathy (ARVC) whose molecular disease mechanism is associated with dysregulation of the canonical WNT signalling pathway. Recent evidence indicates that ARVC and ACM caused by pathogenic variants in the FLNC gene encoding filamin C, a major cardiac structural protein, may have different molecular mechanisms of pathogenesis. We sought to identify dysregulated biological pathways in FLNC-associated ACM. RNA was extracted from seven paraffin-embedded left ventricular tissue samples from deceased ACM patients carrying FLNC variants and sequenced. Transcript le…
Peripheral circulating cells with paroxysmal nocturnal haemoglobinuria phenotype after a first episode of cerebral sinus vein thrombosis: Results fro…
2019
Paroxysmal nocturnal haemoglobinuria (PNH) is a rare, potentially fatal disorder of haematopoietic stem cells caused by mutations in an X-linked gene called phosphatidylinositol glycan class A, characterised by intravascular haemolysis, bone marrow failure and thrombotic events. The disease can occur at any age, although preferentially it affects young adults; its estimated prevalence is about 1/500,000 [1]. Clinical symptoms are variable and can include haemolytic anaemia, moderate to severe impairment of haematopoiesis and, in approximately 40% of patients, thrombosis of the vessels of the abdomen, brain and skin [2]. Rare, atypical site thrombosis of the splanchnic veins or cerebral sinu…
Nanog Regulates Primordial Germ Cell Migration Through Cxcr4b
2010
Abstract Gonadal development in vertebrates depends on the early determination of primordial germ cells (PGCs) and their correct migration to the sites where the gonads develop. Several genes have been implicated in PGC specification and migration in vertebrates. Additionally, some of the genes associated with pluripotency, such as Oct4 and Nanog, are expressed in PGCs and gonads, suggesting a role for these genes in maintaining pluripotency of the germ lineage, which may be considered the only cell type that perpetually maintains stemness properties. Here, we report that medaka Nanog (Ol-Nanog) is expressed in the developing PGCs. Depletion of Ol-Nanog protein causes aberrant migration of …