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Articles 1 - 11 of 11
Full-Text Articles in Genetics and Genomics
Development And Validation Of A Novel Reporter Assay For Human Papillomavirus Type 16 Late Gene Expression, Beatrice Orru, Ciaran Cunniffe, Fergus Ryan, Stefan Schwartz
Development And Validation Of A Novel Reporter Assay For Human Papillomavirus Type 16 Late Gene Expression, Beatrice Orru, Ciaran Cunniffe, Fergus Ryan, Stefan Schwartz
Articles
To facilitate the investigations of HPV-16 late gene expression HPV-16 reporter plasmids were generated using previously described sub-genomic HPV-16 plasmids, named pBEL and pBELM, that, similar to the full viral genome, produce primarily HPV-16 early mRNAs and very little, if any, late mRNAs in cervical cancer cells. The HPV-16 late L1 gene was replaced by the chloramphenicol acetyltransferase (CAT) reporter gene, or green fluorescent protein (GFP), preceded by the poliovirus internal ribosome entry site (IRES). Results show that the reporter genes mimic the expression of L1 from these plasmids. For example, overexpression of adenovirus E4orf4 protein (E4orf4), polypyrimidine tract binding …
Genetic Connections Between Neurological Disorders And Cholesterol Metabolism, Ingemar Bjorkhem, Valerio Leoni, Steve Meaney
Genetic Connections Between Neurological Disorders And Cholesterol Metabolism, Ingemar Bjorkhem, Valerio Leoni, Steve Meaney
Articles
Cholesterol is an essential component of both the peripheral and central nervous systems of mammals. Over the last decade, evidence has accumulated that disturbances in cholesterol metabolism are associated with the development of various neurological conditions. In addition to genetically defined defects in cholesterol synthesis, which will be covered in another review in this Thematic Series, defects in cholesterol metabolism (cerebrotendinous xanthomatosis) and intracellular transport (Niemann Pick Syndrome) lead to neurological disease. A subform of hereditary spastic paresis (type SPG5) and Huntington's disease are neurological diseases with mutations in genes that are of importance for cholesterol metabolism. Neurodegeneration is generally …
High-Density Screening Reveals A Different Spectrum Of Genomic Aberrations In Chronic Lymphocytic Leukemia Patients With ‘Stereotyped’ Ighv3-21 And Ighv4-34 B-Cell Receptors, Millaray Marincevic, Nicola Cahill, Rebeqa Gunnarsson, Anders Isaksson, Mahmoud Mansouri, Hanna Göransson, Markus Rasmussen, Mattias Jansson, Fergus Ryan, Karin Karlsson, Hans-Olov Adami, Fred Davi, Jesper Jurlander, Gunnar Juliusson, Kostas Stamatopoulos, Richard Rosenquist
High-Density Screening Reveals A Different Spectrum Of Genomic Aberrations In Chronic Lymphocytic Leukemia Patients With ‘Stereotyped’ Ighv3-21 And Ighv4-34 B-Cell Receptors, Millaray Marincevic, Nicola Cahill, Rebeqa Gunnarsson, Anders Isaksson, Mahmoud Mansouri, Hanna Göransson, Markus Rasmussen, Mattias Jansson, Fergus Ryan, Karin Karlsson, Hans-Olov Adami, Fred Davi, Jesper Jurlander, Gunnar Juliusson, Kostas Stamatopoulos, Richard Rosenquist
Articles
Background The existence of multiple subsets of chronic lymphocytic leukemia expressing ‘stereotyped’ Bcell receptors implies the involvement of antigen(s) in leukemogenesis. Studies also indicate that ‘stereotypy’ may influence the clinical course of patients with chronic lymphocytic leukemia, for example, in subsets with stereotyped IGHV3-21 and IGHV4-34 B-cell receptors; however, little is known regarding the genomic profile of patients in these subsets. Design and Methods We applied 250K single nucleotide polymorphism-arrays to study copy-number aberrations and copy-number neutral loss-of-heterozygosity in patients with stereotyped IGHV3-21 (subset #2, n=29), stereotyped IGHV4-34 (subset #4, n=17; subset #16, n=8) and non-subset #2 IGHV3-21 (n=13) and …
The Acyl-Coa Thioesterase I (Acot1) Is Regulated By The Peroxisome Proliferator-Activated Receptor Alpha And Hepatocyte Nuclear Factor 4 Alpha Via A Distal Response Element In The Promotor., Bikesh Dongol, Yatrik Shah, Insook Kim, Frank J. Gonzalez, Mary Hunt
The Acyl-Coa Thioesterase I (Acot1) Is Regulated By The Peroxisome Proliferator-Activated Receptor Alpha And Hepatocyte Nuclear Factor 4 Alpha Via A Distal Response Element In The Promotor., Bikesh Dongol, Yatrik Shah, Insook Kim, Frank J. Gonzalez, Mary Hunt
Articles
The cytosolic acyl-CoA thioesterase I (Acot1) is an enzyme that hydrolyzes longchain acyl-CoAs of C12-C20-CoA in chain-length, to the free fatty acid and coenzyme A. Acot1 was previously shown to be strongly upregulated at mRNA and protein level in rodents by fibrates. In this study, we show that Acot1 mRNA levels were increased 90-fold in liver by treatment with Wy-14,643 and that Acot1 mRNA is also increased 15-fold in the liver of hepatocyte nuclear factor 4 alpha (HNF4a) knockout animals. Our study identified a direct repeat 1 (DR1) located in the Acot1 gene promotor in mouse, which binds the peroxisome …
Alternative Exon Usage Selectively Determines Both Tissue Distribution And Subcellular Localization Of The Acyl-Coa Thioesterase 7 Gene Products., Mary Hunt, Sinead Greene, Kjell Hultenby, L. Thomas Svensson, Susanna Engberg, Stefan E H Alexson
Alternative Exon Usage Selectively Determines Both Tissue Distribution And Subcellular Localization Of The Acyl-Coa Thioesterase 7 Gene Products., Mary Hunt, Sinead Greene, Kjell Hultenby, L. Thomas Svensson, Susanna Engberg, Stefan E H Alexson
Articles
Acyl-CoA thioesterases (ACOTs) catalyze the hydrolysis of acyl-CoAs to free fatty acids and coenzyme A. Recent studies have demonstrated that one gene named Acot7, reported to be mainly expressed in brain and testis, is transcribed in several different isoforms by alternative usage of first exons. Strongly decreased levels of ACOT7 activity and protein in both mitochondria and cytosol was reported in patients diagnosed with fatty acid oxidation defects, linking ACOT7 function to regulation of fatty acid oxidation in other tissues. In this study, we have identified five possible first exons in mouse Acot7 (Acot7a-e) and show that all five first …
Chlamydia Trachomatis Detection In Cervical Preservcyt Specimens From An Irish Urban Female Population, Helen Keegan, Fergus Ryan, Alison Malkin, M. Griffin, Helen Lambkin
Chlamydia Trachomatis Detection In Cervical Preservcyt Specimens From An Irish Urban Female Population, Helen Keegan, Fergus Ryan, Alison Malkin, M. Griffin, Helen Lambkin
Articles
Objective: The aim of this study was to determine the prevalence of cervical Chlamydia trachomatis infection by polymerase chain reaction (PCR) in urban women undergoing routine cervical cytological screening and to investigate the relationship with age, cytology, smoking status and concurrent human papillomavirus (HPV) infection. Methods: A total of 996 women (age range 16–69 years) attending general practitioners for routine liquid-based cervical smear screening in the Dublin area were recruited in the study of prevalence of C. trachomatis. Informed consent was obtained and liquid-based cytology (LBC) specimens were sent for cytological screening. DNA was extracted from residual LBC and tested …
Real-Time Reverse Transcription Pcr For Detection And Quantitative Analysis Of Equine Influenza Virus., Michelle Quinlivan, Eugene Dempsey, Fergus Ryan, Sean Arkins, Ann Cullinnane
Real-Time Reverse Transcription Pcr For Detection And Quantitative Analysis Of Equine Influenza Virus., Michelle Quinlivan, Eugene Dempsey, Fergus Ryan, Sean Arkins, Ann Cullinnane
Articles
Equine influenza is a cause of epizootic respiratory disease of the equine. The detection of equine influenza virus using real-time Light Cycler reverse transcription (RT)-PCR technology was evaluated over two influenza seasons with the analysis of 171 samples submitted for viral respiratory disease. Increased sensitivity was found in overall viral detection with this system compared to Directigen Flu A and virus isolation, which were 40% and 23%, respectively, that of the RT-PCR. The assay was also evaluated as a viable replacement for the more traditional methods of quantifying equine influenza virus, 50% egg infectious dose and 50% tissue culture infectious …
Validation Of A Multiplex Pcr Assay For The Simultaneous Detection Of Human Papillomavirus And Chlamydia Trachomatis In Cervical Preservcyt Samples., Helen Keegan, Alison Malkin, Mairead Griffin, Fergus Ryan, Helen Lambkin
Validation Of A Multiplex Pcr Assay For The Simultaneous Detection Of Human Papillomavirus And Chlamydia Trachomatis In Cervical Preservcyt Samples., Helen Keegan, Alison Malkin, Mairead Griffin, Fergus Ryan, Helen Lambkin
Articles
No abstract provided.
Detection Of Five Common Cftr Mutations By Rapid-Cycle Real Time Amplification Refractory Mutation System Pcr., Eugene Dempsey, David Barton, Fergus Ryan
Detection Of Five Common Cftr Mutations By Rapid-Cycle Real Time Amplification Refractory Mutation System Pcr., Eugene Dempsey, David Barton, Fergus Ryan
Articles
No abstract provided.
Haemochromatosis Mutation Analysis In A Normal Irish Population, Fergus Ryan, Joseph Vaughan
Haemochromatosis Mutation Analysis In A Normal Irish Population, Fergus Ryan, Joseph Vaughan
Articles
187 Irish blood donors were examined for the presence of C282Y and H63D missense mutations using a multiplex PCR and restriction digest protocol. The allele frequency for C282Y was found to be 12.3% which is higher than reported in other studies and concurs that this mutation is of Celtic origin.
Title, Fergus Ryan, D Devaney, Caroline Joyce, A Nestorowicz, M Permutt, Benjamin Glaser, Paul Thornton, David E. Barton
Title, Fergus Ryan, D Devaney, Caroline Joyce, A Nestorowicz, M Permutt, Benjamin Glaser, Paul Thornton, David E. Barton
Articles
Persistent hypoglycaemia in infancy is most commonly caused by hyperinsulinism. A case is reported of the somatic loss of the maternal 11p in an insulin secreting focal adenoma in association with a germline SUR-1mutation on the paternal allele in a baby boy with hyperinsulinism diagnosed at 49 days old. A reduction to homozygosity of an SUR-1 mutation is proposed as a critical part of the cause of focal hyperinsulinism.