نتایج جستجو برای: med12 mutations

تعداد نتایج: 172942  

Journal: :international journal of pediatrics 0
rahime renda antalya research and education hospital, pediatric nephrology department, antalya, turkey. özlem aydoğ ankara dr.sami ulus research and education hospital, pediatric nephrology department, ankara, turkey. mehmet bülbül ankara dr.sami ulus research and education hospital, pediatric nephrology department, ankara, turkey. evrim kargın çakıcı ankara dr.sami ulus research and education hospital, pediatric nephrology department, ankara, turkey.

background and aim: steroid-resistant nephrotic syndrome (srns) accounts for 10%-20% of all cases of idiopathic nephrotic syndrome. these patients are at risk of developing end-stage renal disease. the aim of this study was to determine the demographic characteristics, renal biopsy findings, response to immunosuppressive treatment, and prognosis in pediatric patients with srns.materials and met...

Journal: :iranian journal of allergy, asthma and immunology 0
fatemeh ramezani hepatitis b molecular laboratory, department of virology, school of public health, tehran university of medical sciences, tehran, iran mehdi norouzi hepatitis b molecular laboratory, department of virology, school of public health, tehran university of medical sciences, tehran, iran gholam reza sarizade khoozestan province blood trasfusion, ahvaz, iran vahdat poortahmasebi hepatitis b molecular laboratory, department of virology, school of public health, tehran university of medical sciences, tehran, iran ebrahim kalantar gholhak medical laboratory, tehran, iran lars magnius virological department, swedish institute for infectious disease control, solna, sweden

mutations in the human hepatitis b virus (hbv) genome contribute to its escape from host immune surveillance and result in persistent infections. the aim of this study was to characterize the molecular variations of the surface gene and protein in chronically-infected patients from the southern part of iran. the  surface  genes  from  12  hbv  chronic  carriers  were  amplified, sequenced  and ...

درخشنده, جلال, زینلی, سیروس, طاهری, سحر, مرتضوی, یوسف,

Background and Objective: B-thalassemia is an autosomal recessive disease characterized by reduction or complete absence of b-globin gene expression. It has been estimated that more than 2,000,000 carriers as well as 20,000 patients affected with b-thalassemia are living in Iran, a country with more than 70 million population and great ethnic diversity. In this study we aimed to find out the b-...

Journal: :Journal of oncology practice 2018
Rebecca Fahrenbruch Polly Kintzel Anne Marie Bott Steven Gilmore Ryan Markham

PURPOSE To present a position statement from the Hematology/Oncology Pharmacy Association (HOPA) that pertains to dose rounding of biologic and cytotoxic anticancer agents. METHODS The HOPA Standards Committee organized a work group of oncology pharmacist specialists to examine the safety and value of dose rounding of biologic and cytotoxic anticancer agents. Primary literature that describes...

Journal: :Science 2014
Ophir Shalem Neville E Sanjana Ella Hartenian Xi Shi David A Scott Tarjei Mikkelson Dirk Heckl Benjamin L Ebert David E Root John G Doench Feng Zhang

The simplicity of programming the CRISPR (clustered regularly interspaced short palindromic repeats)-associated nuclease Cas9 to modify specific genomic loci suggests a new way to interrogate gene function on a genome-wide scale. We show that lentiviral delivery of a genome-scale CRISPR-Cas9 knockout (GeCKO) library targeting 18,080 genes with 64,751 unique guide sequences enables both negative...

Journal: :Developmental dynamics : an official publication of the American Association of Anatomists 2011
Florence Janody Jessica E Treisman

Spatial and temporal gene regulation relies on a combinatorial code of sequence-specific transcription factors that must be integrated by the general transcriptional machinery. A key link between the two is the mediator complex, which consists of a core complex that reversibly associates with the accessory kinase module. We show here that genes activated by Notch signaling at the dorsal-ventral...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2005
Sung-Kook Hong Caroline E Haldin Nathan D Lawson Brant M Weinstein Igor B Dawid Neil A Hukriede

Mutation of the gene encoding the Mediator component thyroid hormone receptor-associated protein (TRAP)230/MED12 affects the development of multiple systems in zebrafish embryogenesis. We isolated two ethylnitrosourea-induced alleles in the gene encoding this protein and named the locus kohtalo (kto) after the homologous locus in Drosophila. Homozygous kto mutant zebrafish embryos show defects ...

Journal: :Cell 2013
Jennifer E. Phillips-Cremins Michael E.G. Sauria Amartya Sanyal Tatiana I. Gerasimova Bryan R. Lajoie Joshua S.K. Bell Chin-Tong Ong Tracy A. Hookway Changying Guo Yuhua Sun Michael J. Bland William Wagstaff Stephen Dalton Todd C. McDevitt Ranjan Sen Job Dekker James Taylor Victor G. Corces

Understanding the topological configurations of chromatin may reveal valuable insights into how the genome and epigenome act in concert to control cell fate during development. Here, we generate high-resolution architecture maps across seven genomic loci in embryonic stem cells and neural progenitor cells. We observe a hierarchy of 3D interactions that undergo marked reorganization at the subme...

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