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Improvement in the Laboratory Recognition of Lyme Borreliosis with the Combination of Culture and PCR Methods
Springer Science and Business Media LLC - Tập 7 - Trang 155-162 - 2012
Tomasz Chmielewski, Janusz Fiett, Marek Gniadkowski, Stanislawa Tylewska-Wierzbanowska
Background: Lyme disease is a multisystem, multistage infection caused by three genospecies of the Borrelia burgdorferi sensu lato species. The diagnosis of Lyme disease is based on a history of tick-bite, physical examination, and serological tests. In the seronegative patients with Lyme borreliosis symptoms, additional testing should be introduced. Methods: The study group was composed of 240 ho... hiện toàn bộ
Skewed X Inactivation of the Normal Allele in Fully Mutated Female Carriers Determines the Levels of FMRP in Blood and the Fragile X Phenotype
Springer Science and Business Media LLC - Tập 9 - Trang 157-162 - 2012
Raquel Martínez, Victoria Bonilla-Henao, Antonio Jiménez, Miguel Lucas, Carmen Vega, Inmaculada Ramos, Francisco Sobrino, Elizabeth Pintado
Background: The variable phenotype in female carriers of a full mutation is explained in part by non-random X-chromosome inactivation. The molecular diagnosis of fragile X syndrome is based on the resolution of the number of CGG triplet repeats and the methylation status of a critical CpG in the fragile X mental retardation gene (FMR1) promoter. Neighboring CpGs in the FMR1 promoter are supposed t... hiện toàn bộ
Molecular Medicine Tri-Conference 2010
Springer Science and Business Media LLC - Tập 14 - Trang 131-136 - 2012
Anne Bardsley-Elliot
MicroRNA-499 rs3746444 Polymorphism and Autoimmune Diseases Risk: A Meta-Analysis
Springer Science and Business Media LLC - Tập 18 - Trang 237-242 - 2013
Lechun Lu, Ying Tu, Lingxin Liu, Jue Qi, Li He
MicroRNA (miR)-499 rs3746444 polymorphisms may participate in the pathogenesis of autoimmune diseases, but the results remain conflicting. We further investigated this association using a meta-analysis. We conducted a retrieval of studies and obtained the eligible studies if they met inclusion criteria. Two researchers independently extracted the data from original articles. The genotype frequenci... hiện toàn bộ
Target Validation to Biomarker Development
Springer Science and Business Media LLC - Tập 12 - Trang 63-70 - 2012
Riccardo Colombo, Jürgen Moll
With the growing number of putative molecular targets and increased economic pressure on companies developing novel drugs, particularly in the cancer area, the need to work on highly validated targets is essential. The use of biomarkers for proof of mechanism of action is becoming an important tool in validation efforts in the preclinical phase of drug development, helping to reduce the attrition ... hiện toàn bộ
Reduction of Off-Target Effects of Gapmer Antisense Oligonucleotides by Oligonucleotide Extension
Springer Science and Business Media LLC - - 2022
Hidenori Yasuhara, Tokuyuki Yoshida, Kiyomi Sasaki, Satoshi Obika, Takao Inoué
Genetic Determinants of Childhood Obesity
Springer Science and Business Media LLC - Tập 24 Số 6 - Trang 653-663 - 2020
Sheridan H. Littleton, Robert I. Berkowitz, Struan F.A. Grant
The Road Traveled and Journey Ahead for the Genetics and Genomics of Tinnitus
Springer Science and Business Media LLC - Tập 26 - Trang 129-136 - 2022
Barbara Vona
The feasibility to unravel genetic and genomic signatures for disorders affecting the auditory system has accelerated since arriving in the post-genomics era roughly 20 years ago. Newly emerging studies have provided initial landmarks signaling heritability and thus, a genetic link, to severe tinnitus. Tinnitus, the phantom perception of ringing in the ears, is experienced by at least 15% of the a... hiện toàn bộ
Comparison of three PCR assays for the evaluation of interferon-β biological activity in patients with multiple sclerosis
Springer Science and Business Media LLC - Tập 8 - Trang 185-194 - 2012
Francesca Gilli, Fabiana Marnetto, Guglielmo Stefanuto, Valentina Rinaldi, Federica Farinazzo, Simona Malucchi, Marco Capobianco, Marzia Caldano, Arianna Sala, Antonio Bertolotto
Background: The gene expression of the myxovirus-resistant protein A (MxA) gene is a sensitive measure of the biological response of therapeutically applied interferon-β (IFNβ) and of its reduced bioavailability due to inhibiting factors such as IFNβ-induced neutralizing antibodies (NAbs). Methods: We compared three methods for MxA mRNA quantification in 826 peripheral blood mononuclear cell (PBMC... hiện toàn bộ
Detection of KCNJ11 Gene Mutations in a Family with Neonatal Diabetes Mellitus
Springer Science and Business Media LLC - Tập 16 - Trang 109-114 - 2012
Farzaneh Abbasi, Sadaf Saba, Azadeh Ebrahim-Habibi, Forough A. Sayahpour, Parvin Amiri, Bagher Larijani, Mahsa M. Amoli
Background: Activating mutations of potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11), which encodes Kir6.2 (beta-cell adenosine triphosphate-sensitive potassium [KATP] channel subunit), have been associated with neonatal diabetes mellitus (NDM) in different studies. Treatment with oral sulfonylureas in place of exogenous insulin injections results in improved glycemic control... hiện toàn bộ
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