Search results for "Abnormal"
showing 10 items of 761 documents
A Transition Zone Complex Regulates Mammalian Ciliogenesis and Ciliary Membrane Composition
2011
Mutations in genes encoding ciliary components cause ciliopathies, but how many of these mutations disrupt ciliary function is unclear. We investigated Tectonic1 (Tctn1), a regulator of mouse Hedgehog signaling, and found that it is essential for ciliogenesis in some, but not all, tissues. Cell types that do not require Tctn1 for ciliogenesis require it to localize select membrane-associated proteins to the cilium, including Arl13b, AC3, Smoothened and Pkd2. Tctn1 forms a complex with multiple ciliopathy proteins associated with Meckel (MKS) and Joubert (JBTS) syndromes, including Mks1, Tmem216, Tmem67, Cep290, B9d1, Tctn2, and Cc2d2a. Components of the Tectonic ciliopathy complex colocaliz…
Sustained activation of mTOR pathway in embryonic neural stem cells leads to development of tuberous sclerosis complex-associated lesions
2011
SummaryTuberous Sclerosis Complex (TSC) is a multisystem genetic disorder characterized by hamartomatous neurological lesions that exhibit abnormal cell proliferation and differentiation. Hyperactivation of mTOR pathway by mutations in either the Tsc1 or Tsc2 gene underlies TSC pathogenesis, but involvement of specific neural cell populations in the formation of TSC-associated neurological lesions remains unclear. We deleted Tsc1 in Emx1-expressing embryonic telencephalic neural stem cells (NSCs) and found that mutant mice faithfully recapitulated TSC neuropathological lesions, such as cortical lamination defects and subependymal nodules (SENs). These alterations were caused by enhanced gen…
Effect of halloysite nanotubes filler on polydopamine properties
2019
Abstract Hypothesis Polydopamine (PDA) is widely used as hydrophilic coating for several applications. However, most of the methods studied to improve or manipulate PDA properties are multistep and time-consuming, and there is a need for versatile strategies aimed at controlling and modifying the properties of PDA. Experiments PDA-halloysite nanocomposites were produced under different oxidation conditions in alkaline and acidic media and were characterized by UV–visible and attenuated total refraction- Fourier Transform Infrared spectroscopies, thermogravimetric analysis, porosimetry, scanning electron microscopy, X-ray diffraction and contact angle measurements against the reference PDA p…
The Wilms' tumor suppressor gene (wt1) product regulates Dax-1 gene expression during gonadal differentiation.
1999
Gonadal differentiation is dependent upon a molecular cascade responsible for ovarian or testicular development from the bipotential gonadal ridge. Genetic analysis has implicated a number of gene products essential for this process, which include Sry, WT1, SF-1, and DAX-1. We have sought to better define the role of WT1 in this process by identifying downstream targets of WT1 during normal gonadal development. We have noticed that in the developing murine gonadal ridge, wt1 expression precedes expression of Dax-1, a nuclear receptor gene. We document here that the spatial distribution profiles of both proteins in the developing gonad overlap. We also demonstrate that WT1 can activate the D…
Physiological activation of the IgH 3' enhancer in B lineage cells is not blocked by Pax-5.
1996
The mouse 3' enhancer contains a high-affinity binding site for the paired box protein Pax-5. Here, we demonstrate by genomic footprinting that the rat 3' enhancer contains a low-affinity binding site for Pax-5, which is occupied in activated splenic B cells. Thus, binding of Pax-5 to the IgH 3' enhancer appears to be evolutionarily conserved in rodents. Analysis of Pax-5 expression in primary B cells demonstrates that Pax-5 remains expressed after 4 days of lipopolysaccharide (LPS) induction, but is down-regulated in 5-day stimulated cells. Similarly, the expression of Pax-5 is down-regulated in vivo in activated large splenocytes, in contrast to small resting cells. Multimerization of the…
Laparoscopic management of an isolated left fallopian tube torsion due to twisted Morgagni hydatid in a pre-menarcheal girl.
2014
Isolated torsion of fallopian tube, meanwhile uncommon, should be considered in diagnosis of pelvic and lower abdominal pain. US investigation is an useful diagnostic tool. A prompt diagnosis could avoid salpingectomy and preserve fertility. Laparoscopy, as the first approach, should be preferred. We report a case of isolated tubal torsion occurring in a premenarcheal girl successfully managed by laparoscopy.
Design of novel small molecule base-pair recognizers of toxic CUG RNA transcripts characteristics of DM1.
2020
Graphical abstract
Myotonic dystrophy associated expanded CUG repeat muscleblind positive ribonuclear foci are not toxic to Drosophila
2005
Myotonic dystrophy type 1 is an autosomal dominant disorder associated with the expansion of a CTG repeat in the 3 0 untranslated region (UTR) of the DMPK gene. Recent data suggest that pathogenesis is predominantly mediated by a gain of function of the mutant transcript. In patients, these expanded CUG repeat-containing transcripts are sequestered into ribonuclear foci that also contain the muscleblind-like proteins. To provide further insights into muscleblind function and the pathogenesis of myotonic dystrophy, we generated Drosophila incorporating CTG repeats in the 3 0 -UTR of a reporter gene. As in patients, expanded CUG repeats form discrete ribonuclear foci in Drosophila muscle cell…
Unusual case of continuous urinary dribbling in a young female due to unknown complex urogenital malformation: magnetic resonance features
2020
Congenital anomalies of kidney and urinary tract (CAKUT) occur in up to 3.2% of infants, and in almost one third of cases they are associated to genital aberrations. DMSA renal scintigraphy is considered the gold standard in CAKUT patients, to assess renal function, depict and locate ectopic kidney and to guide eventual surgical management. Recent cases have shown the noticeable limit of scintigraphy in detecting poorly functional renal moieties and associated genital anomalies; thus leading to a substantial delay in therapy, and, in females, to severe uro-gynecological complications. We herein describe a case of a young girl with unusual urinary dribbling, where DSMA scintigraphy was not d…
Toeholds and takeover probability: implications for investment strategies
2009
PurposeThe purpose of this paper is to propose various toehold indicators and analyse whether the models incorporating these indicators can be used to establish investment strategies.Design/methodology/approachLogistic regression is used to test toehold indicator significance.FindingsThe results reflect that the designed measures are positively correlated to the likelihood of launching a takeover, although the power of the models to predict out‐sample takeovers is moderate, between 60.71 percent and 71.59 percent. The indicators allow us to design strategies which offer positive abnormal returns. In particular, abnormal return over the Fama‐French factors is 0.5 percent.Originality/valueToe…