Results 101 to 110 of about 207,257 (328)
Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero +15 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To provide a comprehensive clinical and genetic characterization of individuals with arthrogryposis multiplex congenita (AMC), focusing on the distribution of genetic etiologies across the neuromuscular spectrum and comparing myogenic and neurogenic subtypes. Methods A total of 105 individuals with AMC were clinically and genetically
Florencia Pérez‐Vidarte +13 more
wiley +1 more source
Exome Sequencing to Predict Neoantigens in Melanoma [PDF]
Cancer Immunology Research, 2015 Abstract The ability to use circulating peripheral blood cells and matched tumor sequencing data as a basis for neoantigen prediction has exciting possibilities for application in the personalized treatment of cancer patients. We have used a high-throughput screening approach, combining whole-exome sequence data, mRNA microarrays, and ...
Antonia L. Pritchard +9 more
openaire +4 more sources
npj Genomic Medicine, 2021 Most consensus recommendations for the genetic diagnosis of neurodevelopmental disorders (NDDs) do not include the use of next generation sequencing (NGS) and are still based on chromosomal microarrays, such as comparative genomic hybridization array ...
Francisco Martinez-Granero +14 more
doaj +1 more source
Factors for Rituximab Refractoriness in AQP4‐IgG+ NMOSD: A Cohort Study
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Neuromyelitis optica spectrum disorder (NMOSD) is a severe autoimmune condition of the central nervous system (CNS), often associated with aquaporin‐4 antibodies (AQP4‐IgG). Rituximab, a CD20+ B‐cell depleting monoclonal antibody, is widely used as first‐line therapy.
Mariano Marrodan +8 more
wiley +1 more source
Exome Sequencing: Current and Future Perspectives
G3 Genes|Genomes|Genetics, 2015 The falling cost of DNA sequencing has made the technology af fordable to many research groups, enabling researchers to link genomic variants to observed phenotypes in a range of species. This review focusses on whole exome sequencing and its applications in humans and other species.
Warr, Amanda +5 more
openaire +5 more sources
Genetic Profile and Symptom Pattern Explain Variability of Deep Brain Stimulation Effect in Dystonia
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Bilateral globus pallidus pars interna deep brain stimulation (GPi‐DBS) is a recognized and effective treatment option for drug‐resistant dystonia patients. However, the clinical GPi‐DBS outcomes vary significantly. Herein, we explored the pre‐implant factors affecting GPi‐DBS effectiveness.
Mahboubeh Ahmadipour +6 more
wiley +1 more source
Signaling Network Assessment of Mutations and Copy Number Variations Predicts Breast Cancer Subtype-specific Drug Targets [PDF]
, 2013 Individual cancer cells carry a bewildering number of distinct genomic alterations i.e., copy number variations and mutations, making it a challenge to uncover genomic-driven mechanisms governing tumorigenesis.
Banville, Myriam +11 more
core +3 more sources
PCR-free whole exome sequencing: Cost-effective and efficient in detecting rare mutations.
PLoS ONE, 2019 In this study, we describe the development of a PCR-free whole exome sequencing method. Using this method, 2 μg DNA was sufficient for library preparation for whole exome sequencing.
Izumi Yamaguchi +3 more
doaj +1 more source
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large‐Scale Exome Sequencing
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Dystonia is one of the most prevalent movement disorders, characterized by significant clinical and etiological heterogeneity. Despite considerable heritability (~25%), the etiology in most patients remains elusive. Moreover, understanding correlations between clinical manifestations and genetic variants has become increasingly ...
Mirja Thomsen +47 more
wiley +1 more source