نتایج جستجو برای: PC mutation

تعداد نتایج: 331855  

Journal: :BMC Gastroenterology 2006
Zaigham Abbas Rana Muzaffar Arif Siddiqui Syed Ali Anwar Naqvi Syed Adibul Hassan Rizvi

BACKGROUND Hepatitis B virus (HBV) genotypes have distinct geographic distribution. Moreover, much genetic variability has been described in the precore (PC) and basal core promoter (BCP) regions of the HBV genome. The local prevalence of HBV genotypes and mutations has not been well studied. The aim of the present study is to determine the prevalence of HBV genotypes and mutations in the PC an...

Journal: :Journal of medical genetics 2006
R A Kittles A B Baffoe-Bonnie T Y Moses C M Robbins C Ahaghotu P Huusko C Pettaway S Vijayakumar J Bennett G Hoke T Mason S Weinrich J M Trent F S Collins S Mousses J Bailey-Wilson P Furbert-Harris G Dunston I J Powell J D Carpten

BACKGROUND The EphB2 gene was recently implicated as a prostate cancer (PC) tumour suppressor gene, with somatic inactivating mutations occurring in approximately 10% of sporadic tumours. We evaluated the contribution of EphB2 to inherited PC susceptibility in African Americans (AA) by screening the gene for germline polymorphisms. METHODS Direct sequencing of the coding region of EphB2 was p...

Journal: :Clinical cancer research : an official journal of the American Association for Cancer Research 2003
Wouter H de vos tot Nederveen Cappel G Johan A Offerhaus Marjo van Puijenbroek Eric Caspers Nelleke A Gruis Femke A De Snoo Cornelis B H W Lamers Gerrit Griffioen Wilma Bergman Hans F A Vasen Hans Morreau

PURPOSE The purpose is to document the clinical, pathological, and genetic features of pancreatic carcinoma (PC) in carriers of a specific p16-Leiden mutation (a 19-bp deletion in exon 2 of the CDKN2A gene). EXPERIMENTAL DESIGN Clinical data and paraffin embedded tissue were obtained from 12 patients of p16-Leiden-positive families with PC. Because of the known 19-bp germ-line deletion, we co...

Journal: :Nano research 2014
Jinhee Han Matthew Tan Lakshmana Sudheendra Robert H Weiss Ian M Kennedy

A nanoparticle-assembled photonic crystal (PC) array was used to detect single nucleotide polymorphism (SNP). The assay platform with PC nanostructure enhanced the fluorescent signal from nanoparticle-hybridized DNA complexes due to phase matching of excitation and emission. Nanoparticles coupled with probe DNA were trapped into nanowells in an array by using an electrophoretic particle entrapm...

Journal: :Structure 2009
Linda P C Yu Song Xiang Gorka Lasso David Gil Mikel Valle Liang Tong

Pyruvate carboxylase (PC) is a conserved metabolic enzyme with important cellular functions. We report crystallographic and cryo-electron microscopy (EM) studies of Staphylococcus aureus PC (SaPC) in complex with acetyl-CoA, an allosteric activator, and mutagenesis, biochemical, and structural studies of the biotin binding site of its carboxyltransferase (CT) domain. The disease-causing A610T m...

Journal: :Development 1995
S Y Tiong D Nash W Bender

The wing imaginal disc is subdivided into a dorsal and a ventral compartments. A new dominant homeotic mutation, Dorsal wing1 (Dlw1), transforms ventral into dorsal compartment in heterozygotes. This phenotype is similar to one of the dominant phenotypes of Polycomb (Pc) mutants. In Pc Dlw+/Pc+ Dlw1 double mutants, the transformation is greatly enhanced. The recessive phenotype of Dlw1 is the o...

Journal: :Biochemical Society transactions 2000
G L Powell S Jung A C Bruner J L Swartzbeck A G Abbott

Deficiencies in the activity of the microsomal oleoyl phosphatidylcholine (oleoyl-PC) desaturase from peanuts are the basis of the high oleate oil. Mutation of aspartate-150 to asparagine and the attendant decrease in activity, together with the loss in expression of the higher activity transcript, was the molecular basis of the high oleate trait. The ability of oleoyl-PC desaturase to desatura...

Journal: :CoRR 2016
Duc-Cuong Dang Tobias Friedrich Timo Kötzing Martin S. Krejca Per Kristian Lehre Pietro Simone Oliveto Dirk Sudholt Andrew M. Sutton

Population diversity is essential for avoiding premature convergence in Genetic Algorithms (GAs) and for the effective use of crossover. Yet the dynamics of how diversity emerges in populations are not well understood. We use rigorous run time analysis to gain insight into population dynamics and GA performance for the (μ+1) GA and the Jumpk test function. We show that the interplay of crossove...

2014
Salvatore Piscuoglio Charlotte K.Y. Ng Luciano G. Martelotto Carey A. Eberle Catherine F. Cowell Rachael Natrajan François-Clement Bidard Leticia De Mattos-Arruda Paul M. Wilkerson Odette Mariani Anne Vincent-Salomon Britta Weigelt Jorge S. Reis-Filho

Papillary carcinoma (PC) is a rare type of breast cancer, which comprises three histologic subtypes: encapsulated PC (EPC), solid PC (SPC) and invasive PC (IPC). Microarray-based gene expression and Affymetrix SNP 6.0 gene copy number profiling, and RNA-sequencing revealed that PCs are luminal breast cancers that display transcriptomic profiles distinct from those of grade- and estrogen recepto...

2017
Won Hoon Song Sung Han Kim Jae Young Joung Weon Seo Park Ho Kyung Seo Jinsoo Chung Kang Hyun Lee

One of the most significant risk factors for prostate cancer (PC) is a family history of the disease, with germ-line mutations in the breast cancer predisposition gene (BRCA) 2 conferring the highest risk. We here report a 56-year-old man presented with painful gait disturbance and diagnosed PC with multiple disseminated bone metastases. The patient had a strong family history of breast cancer ...

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