نتایج جستجو برای: med12 mutations

تعداد نتایج: 172942  

2008
Takeshi Araki Tatsuo Kobayashi Jisuke Kubo Saúl Ramos-Sánchez Michael Ratz Patrick K.S. Vaudrevange

We derive anomaly constraints for Abelian and non-Abelian discrete symmetries using the path integral approach. We survey anomalies of discrete symmetries in heterotic orbifolds and find a new relation between such anomalies and the socalled ‘anomalous’ U(1).

1998
B. R. Greene C. I. Lazaroiu Piljin Yi

We formulate the effective field theory of a D-particle on orbifolds of T 4 by a cyclic group as a gauge theory in a V -bundle over the dual orbifold. We argue that this theory admits Fayet-Iliopoulos terms analogous to those present in the case of noncompact orbifolds. In the n = 2 case, we present some evidence that turning on such terms resolves the orbifold singularities and may lead to a K...

2017
Dinesh Rakheja Kenneth S. Chen Yangjian Liu Abhay A. Shukla Vanessa Schmid Tsung-Cheng Chang Shama Khokhar Jonathan E. Wickiser Nitin J. Karandikar James S. Malter Joshua T. Mendell James F. Amatruda

Journal: :Genetics 2007
Andrés Gaytán de Ayala Alonso Luis Gutiérrez Cornelia Fritsch Bernadett Papp Dirk Beuchle Jürg Müller

Polycomb group (PcG) genes encode evolutionarily conserved transcriptional repressors that are required for the long-term silencing of particular developmental control genes in animals and plants. PcG genes were first identified in Drosophila as regulators that keep HOX genes inactive in cells where these genes must remain silent during development. Here, we report the results of a genetic scre...

2016
Anne-Sophie Thomas-Claudepierre Isabelle Robert Pedro P. Rocha Ramya Raviram Ebe Schiavo Vincent Heyer Richard Bonneau Vincent M. Luo Janardan K. Reddy Tilman Borggrefe Jane A. Skok Bernardo Reina-San-Martin

Immunoglobulin (Ig) class switch recombination (CSR) is initiated by the transcription-coupled recruitment of activation-induced cytidine deaminase (AID) to Ig switch regions (S regions). During CSR, the IgH locus undergoes dynamic three-dimensional structural changes in which promoters, enhancers, and S regions are brought to close proximity. Nevertheless, little is known about the underlying ...

Journal: :iranian journal of child neurology 0
seyed hassan tonekaboni 1. professor of pediatric neurology, pediatric neurology research center, shahid beheshi university of medical science, tehran, iran 2. professor of pediatric neurology, school of medicine, hahid beheshi university of medical science, tehran, iran ahmad ebrahimi phd of medical genetic, parseh medical genetics center, tehran, iran mohammadkazem bakhshandeh bali pediatric neurology research center, shahid beheshti university of medical sciences, tehran, iran massoud houshmand phd of medical clinical genetic, national institute of genetic engineering and biotechnology, tehran, iran mehdi moghaddasi neurologist, department of neurology, rasool-e-akram hospital, tehran university of medical sciences, tehran, iran mohammad mahdi taghdiri associate professor of pediatric neurology, shahid beheshti university of medical science, tehran, iran

how to cite this article: tonekaboni sh, ebrahimi a, bakhshandeh bali mk, houshmand m, moghaddasi m, taghdiri mm, nasehi mm. sodium channel gene mutations in children with gefs + and dravet syndrome: a cross sectional study. iran j child neurol. 2013 winter; 7 (1):25-29.   objective dravet syndrome or severe myoclonic epilepsy of infancy (smei) is a baleful epileptic encephalopathy that begins ...

Journal: :Asian Pacific journal of cancer prevention : APJCP 2013
Fatma Ferda Verit Oguz Yucel

The aim of this review article was to evaluate the relationship and the possible etiological mechanisms between endometriosis, leiomyoma (LM) and adenomyosis and gynecological cancers, such as ovarian and endometrial cancer and leiomyosarcoma (LMS). MEDLINE was searched for all articles written in the English literature from July 1966 to May 2013. Reports were collected systematically and all t...

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