نتایج جستجو برای: ntd

تعداد نتایج: 1309  

2016
Mariko Yokogawa Takashi Tsushima Nobuo N. Noda Hiroyuki Kumeta Yoshiaki Enokizono Kazuo Yamashita Daron M. Standley Osamu Takeuchi Shizuo Akira Fuyuhiko Inagaki

Regnase-1 is an RNase that directly cleaves mRNAs of inflammatory genes such as IL-6 and IL-12p40, and negatively regulates cellular inflammatory responses. Here, we report the structures of four domains of Regnase-1 from Mus musculus-the N-terminal domain (NTD), PilT N-terminus like (PIN) domain, zinc finger (ZF) domain and C-terminal domain (CTD). The PIN domain harbors the RNase catalytic ce...

Journal: :Journal of medical genetics 1983
M J Seller

The mouse mutant curly-tail is an animal model for human neural tube defects (NTD). Around 60% spontaneously have NTD. It has been found that maternal administration of hydroxyurea, mitomycin C, or 5-fluorouracil on day 9 of pregnancy, that is, when the fetal neural tube is in the final stages of closure, leads to a significant reduction in the proportion of NTD (to 15 to 20%) in the offspring,...

Journal: :Frontiers in bioscience 2010
Emanuela Marinoni Alessandro Frigiola Diego Gazzolo Papaleo Greco Antonella Vimercati Massimo Moscarini Raul Abella Romolo Di Iorio

We investigated the levels of S100 beta protein (S100B) in the serum of fetuses with neural tube defects (NTD), and their mother. Samples from 20 fetuses with NTD and 30 controls at the same gestational age, and their mothers, were studied. S100B protein levels were determined using Lia-mat Sangtec. kit. S100B concentrations were significantly higher in NTD fetuses (median 2.71 microg/L) than i...

Journal: :The Proceedings of the Nutrition Society 2006
Ivon J M van der Linden Lydia A Afman Sandra G Heil Henk J Blom

Neural-tube defects (NTD) are common congenital malformations that can lead to severe disability or even death. Periconceptional supplementation with the B-vitamin folic acid has been demonstrated to prevent 50-70% of NTD cases. Since the identification of the first genetic risk factor of NTD, the C677T single-nucleotide polymorphism (SNP) in the methylenetetrahydrofolate reductase (MTHFR) gene...

2002
E. W. Nelson

A far-infrared p-type germanium laser with active crystal prepared from ultra pure single-crystal Ge by neutron transmutation doping ~NTD! is demonstrated. Calculations show that the high uniformity of Ga acceptor distribution achieved by NTD significantly improves average gain. The stronger ionized impurity scattering due to high compensation in NTD Ge is shown to have insignificant negative i...

Journal: :Swiss medical weekly 2008
Andrea Poretti Tanja Anheier Roland Zimmermann Eugen Boltshauser

BACKGROUND Neural tube defects (NTDs) are common congenital anomalies. Their aetiology is complex, with both genetic and environmental factors implicated. The present study was performed to analyse the birth prevalence of NTD in Switzerland from 2001 to 2007 and to identify possible risk factors. METHODS Diagnosed cases of NTD in all paediatric units in Switzerland and four prenatal centres w...

Journal: :Molecular genetics and metabolism 2004
Caroline L Relton Craig S Wilding Alison J Laffling Pat A Jonas Terry Burgess Keith Binks E Janet Tawn John Burn

Previous studies have shown conflicting findings in linking polymorphic variation in folate-related genes to the risk of neural tube defect pregnancy. Recent evidence points to maternal genotype being important in determining NTD risk. A case-control study was undertaken in 97 mothers of NTD cases from the northern region of the UK. Pregnant controls (n = 190) from a regional DNA bank and non-p...

Journal: :Vaccine 2003
Hui-Chun Hsu Ruey Shiung Lin Tao Hsin Tung Tony Hsiu Hsi Chen

Cost-benefit analysis was conducted to determine whether it is worthwhile to initiate a routine varicella vaccination program in Taiwan from different perspectives. Using the human capital approach, the discounted net cost for vaccination program was New Taiwan Dollars (NTD) 281 million from health care payer's perspective. Taking indirect costs into account, the net saving due to vaccination p...

2017
Emmanuel Oppong Gunter Stier Miriam Gaal Rebecca Seeger Melanie Stoeck Marc-André Delsuc Andrew C. B. Cato Bruno Kieffer

The human androgen receptor (AR) is a ligand inducible transcription factor that harbors an amino terminal domain (AR-NTD) with a ligand-independent activation function. AR-NTD is intrinsically disordered and displays aggregation properties conferred by the presence of a poly-glutamine (polyQ) sequence. The length of the polyQ sequence as well as its adjacent sequence motifs modulate this aggre...

Journal: :Journal of medical genetics 1995
F A Hol B C Hamel M P Geurds R A Mullaart F G Barr R A Macina E C Mariman

Neural tube defects (NTD) are among the most prevalent congenital malformations in man. Based on the molecular defect of Splotch, an established mouse model for NTD, and on the clinical association between NTD and Waardenburg syndrome (WS), mutations in the PAX3 gene can be expected to act as factors predisposing to human NTD. To test this hypothesis, 39 patients with familial NTD were screened...

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