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To gain insight to the mechanisms underlying region-specific gene expression in mammalian development, we investigated the regulatory DNA associated with the proximal promoter of two homeo box genes, murine Hox-1.3 and human Hox-5.1. Using lacZ gene fusions in transgenic mice, we identified regulatory elements in the 5'-flanking sequences of the Hox-1.3 and(More)
Like other homeobox genes of the Antennapedia and bithorax complexes (collectively called the HOM complex), the Drosophila Deformed (Dfd) gene has structural homologues in the Hox/HOX complexes of mouse and humans, one of which is human HOX4B (refs 3, 4). Previous experiments indicated that HOX4B protein can specifically activate the expression of the(More)
BACKGROUND AND OBJECTIVES Ferroportin-1 (FPN1) is expressed in various types of cells that play critical roles in mammalian iron metabolism and appears to act as an iron exporter in these tissues. The aim of this study was to investigate whether erythroid cells possess specific mechanisms for iron export. DESIGN AND METHODS The expression of FPN1 during(More)
Signal transduction cascades involving Rho-associated kinases (ROCK), the serine/threonine kinases downstream effectors of Rho, have been implicated in the regulation of diverse cellular functions including cytoskeletal organization, cell size control, modulation of gene expression, differentiation, and transformation. Here we show that ROCK2, the(More)
BACKGROUND The differentiation process, proceeding from stem cells towards the different committed cell types, can be considered as a trajectory towards an attractor of a dynamical process. This view, taking into consideration the transcriptome and miRNome dynamics considered as a whole, instead of looking at few 'master genes' driving the system, offers a(More)
In recent years there have been major advances in our knowledge of the regulation of iron metabolism that have had implications for understanding the pathophysiology of some human disorders like beta-thalassemia and other iron overload diseases. However, little is known about the relationship among ineffective erythropoiesis, the role of iron-regulatory(More)
SUMMARY An Italian family in which heterocellular hereditary persistence of fetal haemoglobin (HPFH) interacts with both p3-and 6r-thalassaemia is described. The index case was an 8 year old girl who was presumed to inherit both heterocellular HPFH and r+-thalassaemia from her mother and 6,I-thalassaemia from her father. She was healthy and never needed(More)
OBJECTIVE This work investigated the molecular cause responsible for a late-onset parkinsonism-dystonia phenotype in three Italian siblings, and clinically characterize this condition. METHODS Extensive neurophysiological and neuroradiological exams were performed on the three sibs. Most frequent late-onset metabolic diseases were ruled out through(More)
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