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Genes associated with human microcephaly, a condition characterized by a small brain, include critical regulators of proliferation, cell fate and DNA repair. We describe a syndrome of congenital microcephaly and diverse defects in cerebral cortical architecture. Genome-wide linkage analysis in two families identified a 7.5-Mb locus on chromosome 19q13.12(More)
Adverse remodeling of the extracellular matrix (ECM) is a significant characteristic of heart failure. Reverse remodeling of the fibrillar ECM secondary to mechanical unloading of the left ventricle (LV) by left ventricular assist device (LVAD) has been subject of intense investigation; however, little is known about the impacts on nonfibrillar ECM and(More)
In the developing liver, the complete or partial persistence of the primitive double-layered cylinder of biliary-type cells that surrounds the branches of portal vein and its mesenchyme gives origin to portal tracts with an increased number of bile duct structures. The term "ductal plate malformation of the liver" was coined to label the insufficient(More)
The hepatorenal fibrocystic (HRFC) syndromes are a heterogeneous group of severe monogenic conditions that may be detected before birth. Commonly, HRFC syndromes present in the neonatal and paediatric age, with consistent developmental abnormalities mostly involving the liver and kidney. The changes include the proliferation and dilatation of epithelial(More)
Pyridoxine-responsive seizures (PRS) and the role of pyridoxine (PN, vitamin B(6)) in hypophosphatasia (HPP) are incompletely understood. Typically, PRS and HPP are rare, independent, metabolic disorders. In PRS, seizures resist standard anticonvulsants apart from PN, yet have a good prognosis. In HPP, inactivation of the tissue nonspecific isoenzyme of(More)
Meckel syndrome (MIM 249.000) is an autosomal recessive disorder with a variable spectrum of anomalies. Since the first reports of this syndrome, very broad diagnostic criteria have been proposed, but the process of defining them continues. It is probable that at least two of three manifestations, including cystic kidney dysplasia, occipital encephalocele(More)
Keratinocytes release a number of cytokines interacting with other intra- and subepidermal cells during the initiation and the perpetuation of skin inflammatory reactions. Cultured human keratinocytes overexpressing the transforming growth factor alpha (TGF-alpha) assumed a spindled morphology and displayed increased locomotion. Moreover, the receptor for(More)
From 12 weeks of gestation on, a progressive remodeling of the human primitive biliary structure or ductal plate occurs. A few parts of the primitive biliary structure (peripheral tubular or ductular structures) dilate, migrate toward the center of the portal tract, and transform into mature bile ducts, while most of them gradually disappear. To the best of(More)
Pax3 and Pax7 are closely related transcription factors involved in the commitment of myogenic precursors in the developing trunk. However, it is not yet clear whether these genes are required for myogenic cell specification in the head and for post-somitic myogensis per se. In part, this uncertainty is due to the scarce information about their normal time(More)
BACKGROUND Recently, the interest has focused on the increased prevalence of thrombophilic defects in women with gestational complications. OBJECTIVE To explore whether women with early recurrent pregnancy loss (RPL) are at increased risk of being carriers of the Factor V Leiden (FVL) mutation compared to those who have a normal reproductive history. (More)