Publications related to Transversion

Somatic Mitochondrial DNA Point Mutations Used as Biomarkers to Demonstrate Genomic Heterogeneity in Primary Prostate Cancer

Paul Refinetti, Per Olaf Ekstrom

Primary prostate tumor heterogeneity is poorly understood, leaving research efforts with challenges regarding the initiation and advancement of the disease. The growth of tumor cells is accompanied by mutations in nuclear and in mitochondrial genomes. Thus ...

HINDAWI LTD2020

Mapping mitochondrial heteroplasmy in a Leydig tumor by laser capture microdissection and cycling temperature capillary electrophoresis

Stephan Morgenthaler, Paul Refinetti, Per Olaf Ekstrom

Background: The growth of tumor cells is accompanied by mutations in nuclear and mitochondrial genomes creating marked genetic heterogeneity. Tumors also contain non-tumor cells of various origins. An observed somatic mitochondrial mutation would have occu ...

BioMed Central2017

Whole genome sequencing distinguishes between relapse and reinfection in recurrent leprosy cases

Stewart Cole, Andrej Benjak, Charlotte Avanzi, Philippe Busso, Pushpendra Singh, Jérémie Piton, Chloé Marie Loiseau

Background Since leprosy is both treated and controlled by multidrug therapy (MDT) it is important to monitor recurrent cases for drug resistance and to distinguish between relapse and reinfection as a means of assessing therapeutic efficacy. All three obj ...

Public Library Science2017

In-depth analysis of hyaline fibromatosis syndrome frameshift mutations at the same site reveal the necessity of personalized therapy

Françoise Gisou van der Goot Grunberg, Matteo Dal Peraro, Thomas Lemmin, Suzanne Salvi, Shixu Yan

Hyaline fibromatosis syndrome is an autosomal recessive disease caused by mutations in ANTXR2, a gene involved in extracellular matrix homeostasis. Sixty percent of patients carry frameshift mutations at a mutational hotspot in exon 13. We show in patient ...

Wiley-Blackwell2013

Genomic Variation and Its Impact on Gene Expression in Drosophila melanogaster

Bart Deplancke, Sebastian Martin Waszak, Andreas Massouras, Jeffrey David Jensen, Monica Albarca Aguilera

Understanding the relationship between genetic and phenotypic variation is one of the great outstanding challenges in biology. To meet this challenge, comprehensive genomic variation maps of human as well as of model organism populations are required. Here ...

Public Library of Science2012

Spontaneous phthiocerol dimycocerosate-deficient variants of Mycobacterium tuberculosis are susceptible to gamma interferon-mediated immunity

John McKinney, Swapna Uplekar, Anna De Graff Tischler

Onset of the adaptive immune response in mice infected with Mycobacterium tuberculosis is accompanied by slowing of bacterial replication and establishment of a chronic infection. Stabilization of bacterial numbers during the chronic phase of infection is ...

2011

Metabolic Profiling Strategy of Caenorhabditis elegans by Whole-Organism Nuclear Magnetic Resonance

David Lyndon Emsley

In this study, we present a methodology for metabotyping of C. elegans using (1)H high resolution magic angle spinning (HRMAS) whole-organism nuclear magnetic resonance (NMR). We demonstrate and characterize the robustness of our metabolic phenotyping meth ...

AMER CHEMICAL SOC2009

Rescue of a severe mouse model for spinal muscular atrophy by U7 snRNA-mediated splicing modulation

Didier Trono, Isabelle Barde, Sonia Verp

In spinal muscular atrophy (SMA), the leading genetic cause of early childhood death, the survival motor neuron 1 gene (SMN1) is deleted or inactivated. The nearly identical SMN2 gene has a silent mutation that impairs the utilization of exon 7 and the pro ...

Oxford University Press2008

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Transversion

Somatic Mitochondrial DNA Point Mutations Used as Biomarkers to Demonstrate Genomic Heterogeneity in Primary Prostate Cancer

Statistical Analysis of Protein Sequences: A Coevolutionary Study of Molecular Chaperones

Mapping mitochondrial heteroplasmy in a Leydig tumor by laser capture microdissection and cycling temperature capillary electrophoresis

Whole genome sequencing distinguishes between relapse and reinfection in recurrent leprosy cases

Is detection of intraperitoneal exfoliated tumor cells after surgical resection of rectal cancer a prognostic factor of survival?

In-depth analysis of hyaline fibromatosis syndrome frameshift mutations at the same site reveal the necessity of personalized therapy

Genomic Variation and Its Impact on Gene Expression in Drosophila melanogaster

Spontaneous phthiocerol dimycocerosate-deficient variants of Mycobacterium tuberculosis are susceptible to gamma interferon-mediated immunity

Metabolic Profiling Strategy of Caenorhabditis elegans by Whole-Organism Nuclear Magnetic Resonance

Rescue of a severe mouse model for spinal muscular atrophy by U7 snRNA-mediated splicing modulation

Graph Chatbot

Chat with Graph Search

Mapping mitochondrial heteroplasmy in a Leydig tumor by laser capture microdissection and cycling temperature capillary electrophoresis

Is detection of intraperitoneal exfoliated tumor cells after surgical resection of rectal cancer a prognostic factor of survival?

Statistical Analysis of Protein Sequences: A Coevolutionary Study of Molecular Chaperones

In-depth analysis of hyaline fibromatosis syndrome frameshift mutations at the same site reveal the necessity of personalized therapy

Genomic Variation and Its Impact on Gene Expression in Drosophila melanogaster

Spontaneous phthiocerol dimycocerosate-deficient variants of Mycobacterium tuberculosis are susceptible to gamma interferon-mediated immunity

Metabolic Profiling Strategy of Caenorhabditis elegans by Whole-Organism Nuclear Magnetic Resonance

Rescue of a severe mouse model for spinal muscular atrophy by U7 snRNA-mediated splicing modulation

Whole genome sequencing distinguishes between relapse and reinfection in recurrent leprosy cases