نتایج جستجو برای: structural mutation

تعداد نتایج: 669694  

Journal: :Journal of pharmaceutical sciences 2015
Xue Xia Liam M Longo Michael Blaber

Buried free-cysteine (Cys) residues can contribute to an irreversible unfolding pathway that promotes protein aggregation, increases immunogenic potential, and significantly reduces protein functional half-life. Consequently, mutation of buried free-Cys residues can result in significant improvement in the storage, reconstitution, and pharmacokinetic properties of protein-based therapeutics. Mu...

Journal: : 2022

We discuss the effect of mutation probabilities on performance Mutation-Based Evolving Artificial Neural Networks (MBEANN), which is one methods Topology and Weight (TWEANN). TWEANN an approach for evolving both structures weights artificial neural networks. expected to perform well than using a fixed-topology network with only weight values. The phenotype MBEANN consists sub-networks, topology...

Journal: :Biochemistry 2001
E Prochniewicz D D Thomas

We have examined the effects of actin mutations on myosin binding, detected by cosedimentation, and actin structural dynamics, detected by spectroscopic probes. Specific mutations were chosen that have been shown to affect the functional interactions of actin and myosin, two mutations (4Ac and E99A/E100A) in the proposed region of weak binding to myosin and one mutation (I341A) in the proposed ...

Journal: :Archives of ophthalmology 2007
Sonya L Bennett Alex W Hewitt Johan L Poulsen Lisa S Kearns James E Morgan Jamie E Craig David A Mackey

OBJECTIVE To investigate whether structural differences of the optic nerve head are evident in young people who do not have manifest glaucoma but are known to carry myocilin mutations. METHODS A case-control design was adopted. Subjects from Australian pedigrees known to have either the Gln368STOP myocilin mutation (cutoff age, <40 years) or the Thr377Met myocilin mutation (cutoff age, <30 ye...

Microtubule Affinity-Regulating Kinase 2 (MARK2) protein has a substantial role in regulation of vital cellular processes like induction of polarity, regulation of cell junctions, cytoskeleton structure and cell differentiation. The abnormal function of this protein has been associated with a number of pathological conditions like Alzheimer disease, autism, several carcinomas and development of...

A. R. Mirza Goltabar Roshan, F. Zahedi Tajrishi,

This paper is concerned with the determination of optimal sensor locations for structural modal identification in a strap-braced cold formed steel frame based on an improved genetic algorithm (IGA). Six different optimal sensor placement performance indices have been taken as the fitness functions two based on modal assurance criterion (MAC), two based on maximization of the determinant of a Fi...

پایان نامه :وزارت علوم، تحقیقات و فناوری - دانشگاه تربیت مدرس - دانشکده علوم پزشکی 1390

انمی داسی شکل و ا نمی کولی جز شایع ترین بیماریهای وراثتی در انسان ها در سرتاسر دنیا بوده که هزینه های درمانی هنگفتی را بر بیماران و سیستم بهداشتی کشورها می گذارد. انمی داسی شکل اولین اختلال ژنتیکی بوده که در حدود 58 سال پیش مکانیسم ژنتیکی اش توصیف شده و اختلالش ناشی از یک point mutation در زنجیره بتای همو گلوبین می باشد که سبب dysfunction پروتین هموگلوبین شده و عامل عوارض بالینی در مبتلایان می ...

Journal: :Blood 1993
A C Rybicki J J Qiu S Musto N L Rosen R L Nagel R S Schwartz

Red blood cell (RBC) protein 4.2 deficiency is often associated with a moderate nonimmune hemolytic anemia, splenomegaly, and osmotically fragile RBCs resembling, but not identical to, hereditary spherocytosis (HS). In the Japanese type of protein 4.2 deficiency (protein 4.2Nippon), the anemia is associated with a point mutation in the protein 4.2 cDNA. In this report, we describe a patient wit...

Journal: :The Journal of biological chemistry 2010
Yoshiaki Furukawa Kumi Kaneko Koji Yamanaka Nobuyuki Nukina

More than 100 different mutations in Cu,Zn-superoxide dismutase (SOD1) are linked to a familial form of amyotrophic lateral sclerosis (fALS). Pathogenic mutations facilitate fibrillar aggregation of SOD1, upon which significant structural changes of SOD1 have been assumed; in general, however, a structure of protein aggregate remains obscure. Here, we have identified a protease-resistant core i...

Journal: :Journal of molecular biology 2002
Christopher T Saunders David Baker

Methods for automated prediction of deleterious protein mutations have utilized both structural and evolutionary information but the relative contribution of these two factors remains unclear. To address this, we have used a variety of structural and evolutionary features to create simple deleterious mutation models that have been tested on both experimental mutagenesis and human allele data. W...

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