نتایج جستجو برای: delta f508

تعداد نتایج: 54080  

Journal: :Proceedings of the National Academy of Sciences of the United States of America 1992
N Arispe E Rojas J Hartman E J Sorscher H B Pollard

The first nucleotide binding fold (NBF-1) from the cystic fibrosis transmembrane regulator (CFTR) has been expressed in bacteria and found to bind ATP and to express anion channel activity when reconstituted onto a planar lipid bilayer. This evidence suggests that the NBF forms the anion-selective portion of the CFTR channel. We also found that the recombinant NBF-1 anion channel is blocked by ...

Journal: :Annals of clinical and laboratory science 1998
G S Makowski E L Davis F Nadeau S M Hopfer

This study evaluated two deoxyribonucleic acid (DNA) extraction methods for Guthrie card bloodspots. Our water-based extraction technique was compared with a commercial kit (GFX extraction system). In contrast to our nondenaturing method, the GFX system utilizes chaotropes to extract DNA. Extracted DNA is subsequently purified by selective elution from a glass fiber matrix. To evaluate DNA extr...

Journal: :BioTechniques 1997
G S Higgins D P Little H Köster

A rapid, robust and widely applicable mutation detection scheme not requiring radioactivity or gel-based detection is introduced. It is a single-tube, competitive oligonucleotide single-base extension (COSBE) reaction using a pair of primers with the 3'-terminal base complementary to either the normal or mutant allele. Upon hybridization and addition of a polymerase and the nucleotide triphosph...

Journal: :The New England journal of medicine 2004
Pamela Zeitlin

Cystic fibrosis, a progressive and ultimately fatal inherited disorder caused by a mutant cystic fibrosis transmembrane conductance regulator ( CFTR ) gene, has mobilized the government, charitable foundations, the biotechnology industry, and academia to work together to accelerate the development of drugs to combat the disease. The tools of molecular biology have facilitated the entry of about...

Journal: :American journal of physiology. Cell physiology 2006
Agnieszka Swiatecka-Urban Sophie Moreau-Marquis Daniel P Maceachran John P Connolly Caitlin R Stanton John R Su Roxanna Barnaby George A O'toole Bruce A Stanton

The most common mutation in the CFTR gene in individuals with cystic fibrosis (CF), DeltaF508, leads to the absence of CFTR Cl(-) channels in the apical plasma membrane, which in turn results in impairment of mucociliary clearance, the first line of defense against inhaled bacteria. Pseudomonas aeruginosa is particularly successful at colonizing and chronically infecting the lungs and is respon...

2007
Laurence Suaud Wusheng Yan Marcelo D. Carattino Amal Robay Thomas R. Kleyman Ronald C. Rubenstein

Suaud L, Yan W, Carattino MD, Robay A, Kleyman TR, Rubenstein RC. Regulatory interactions of N1303K-CFTR and ENaC in Xenopus oocytes: evidence that chloride transport is not necessary for inhibition of ENaC. Am J Physiol Cell Physiol 292: C1553–C1561, 2007. First published December 20, 2006; doi:10.1152/ajpcell.00064.2006.— Regulatory interactions of the cystic fibrosis transmembrane conductanc...

Let $mathfrak{A}$ be an algebra. A linear mapping $delta:mathfrak{A}tomathfrak{A}$ is called a textit{derivation} if $delta(ab)=delta(a)b+adelta(b)$ for each $a,binmathfrak{A}$. Given two derivations $delta$ and $delta'$ on a $C^*$-algebra $mathfrak A$, we prove that there exists a derivation $Delta$ on $mathfrak A$ such that $deltadelta'=Delta^2$ if and only if either $delta'=0$ or $delta=sdel...

2013
Salvatore Leonardi Andrea Domenico Praticò Novella Rotolo Giovanna Di Dio Elena Lionetti Mario La Rosa

INTRODUCTION Recent studies suggest an important role of the cystic fibrosis transmembrane conductance regulator gene in the development of pancreatitis. It occurs approximately in 20% of patients with cystic fibrosis and almost exclusively in pancreatic sufficient people. Newborn screening and improved panels of deoxyribonucleic acid mutation analysis techniques are revealing more rare and non...

Journal: :bulletin of the iranian mathematical society 2012
mohammad ashraf shakir ali nadeem ur rehman muzibur rahman mozumder

let $r$ be a 2-torsion free ring and $u$ be a square closed lie ideal of $r$. suppose that $alpha, beta$ are automorphisms of $r$. an additive mapping $delta: r longrightarrow r$ is said to be a jordan left $(alpha,beta)$-derivation of $r$ if $delta(x^2)=alpha(x)delta(x)+beta(x)delta(x)$ holds for all $xin r$. in this paper it is established that if $r$ admits an additive mapping $g : rlongrigh...

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