Works matching DE "DNA mutational analysis"
Results: 511
Mitochondrial 16S rRNA Is Methylated by tRNA Methyltransferase TRMT61B in All Vertebrates.
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- PLoS Biology, 2016, v. 14, n. 9, p. 1, doi. 10.1371/journal.pbio.1002557
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- Publication type:
- Article
In Silico Analyses Reveal the Relationship Between SIX1/EYA1 Mutations and Conotruncal Heart Defects.
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- Pediatric Cardiology, 2018, v. 39, n. 1, p. 176, doi. 10.1007/s00246-017-1744-0
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- Article
Unwanted mutations: Standards needed for gene-editing errors.
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- 2015
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- Publication type:
- Letter to the Editor
DNA mutation clock proves tough to set.
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- Nature, 2015, v. 519, n. 7542, p. 139, doi. 10.1038/519139a
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- Publication type:
- Article
Mutational analysis of the conserved carboxylates of anion channelrhodopsin-2 (ACR2) expressed in Escherichia coli and their roles in anion transport.
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- Biophysics & Physicobiology, 2018, v. 15, n. 1, p. 179, doi. 10.2142/biophysico.15.0_179
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- Article
The circadian coordination of cell biology.
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- Journal of Cell Biology, 2016, v. 215, n. 1, p. 15, doi. 10.1083/jcb.201603076
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- Article
The concerted action of oncogenic driver mutations directs global translation in intestinal epithelial cells.
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- Molecular & Cellular Oncology, 2021, v. 8, n. 4, p. 1, doi. 10.1080/23723556.2021.1879614
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- Article
Left Ventricular Noncompaction in a Family with Lamin A/C Gene Mutation.
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- Texas Heart Institute Journal, 2015, v. 42, n. 1, p. 73, doi. 10.14503/THIJ-13-3843
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- Article
A Personalized Approach to Parkinson's Disease Patients Based on Founder Mutation Analysis.
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- Frontiers in Neurology, 2016, p. 1, doi. 10.3389/fneur.2016.00071
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- Article
A Novel Germline Mutation of KEAP 1 (R483H) Associated with a Non-Toxic Multinodular Goiter.
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- 2016
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- Publication type:
- Case Study
Brain Mitochondria, Aging, and Parkinson’s Disease.
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- Genes, 2018, v. 9, n. 5, p. 250, doi. 10.3390/genes9050250
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- Publication type:
- Article
Structure-Function Mutational Analysis and Prediction of the Potential Impact of High Risk Non-Synonymous Single-Nucleotide Polymorphism on Poliovirus 2A Protease Stability Using Comprehensive Informatics Approaches.
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- Genes, 2018, v. 9, n. 5, p. 228, doi. 10.3390/genes9050228
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- Publication type:
- Article
Exonization of an Intronic LINE-1 Element Causing Becker Muscular Dystrophy as a Novel Mutational Mechanism in Dystrophin Gene.
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- Genes, 2017, v. 8, n. 10, p. 253, doi. 10.3390/genes8100253
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- Publication type:
- Article
Microsatellite Instability Use in Mismatch Repair Gene Sequence Variant Classification.
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- Genes, 2015, v. 6, n. 2, p. 150, doi. 10.3390/genes6020150
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- Publication type:
- Article
A Place for BRAFV600E Mutation-specific Immunohistochemistry Alongside Cell-free DNA Mutation Detection in Melanoma.
- Published in:
- 2016
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- Publication type:
- Letter to the Editor
SUMO deconjugation is required for arsenic-triggered ubiquitylation of PML.
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- Science Signaling, 2015, v. 8, n. 380, p. 1, doi. 10.1126/scisignal.aaa3929
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- Publication type:
- Article
The fractal based analysis of human face and DNA variations during aging.
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- BioScience Trends, 2016, v. 10, n. 6, p. 477, doi. 10.5582/bst.2016.01182
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- Publication type:
- Article
The Roaring Molecular Revolution of Editing the Genomes of Many Living Organisms, Including Humans, Using Programmable Nucleases.
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- Journal of the Association of Genetic Technologists, 2016, v. 42, n. 2, p. 73
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- Publication type:
- Article
Progress in Silicon Nanowire-Based Field-Effect Transistor Biosensors for Label-Free Detection of DNA.
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- Chinese Journal of Chemistry, 2016, v. 34, n. 3, p. 308, doi. 10.1002/cjoc.201500857
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- Article
Identification of a novel familial FGF16 mutation in two cases of MF4.
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- BMC Proceedings, 2015, p. 1, doi. 10.1186/1753-6561-9-S1-A19
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- Publication type:
- Article
Sex, butterflies and molecular biology: when pigmentation met mimicry.
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- Pigment Cell & Melanoma Research, 2014, v. 27, n. 4, p. 507, doi. 10.1111/pcmr.12260
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- Publication type:
- Article
Next generation sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease.
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- Pediatric Rheumatology, 2017, v. 15, p. 1, doi. 10.1186/s12969-017-0215-8
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- Publication type:
- Article
Identification of a Non-Stop Mutation in PAX6 Causing a Unique Presentation of Aniridia in an Iranian Family Trial.
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- Acta Medica Iranica, 2018, v. 56, n. 2, p. 84
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- Publication type:
- Article
Identification of Factors Affecting the Success of Next-Generation Sequencing Testing in Solid Tumors.
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- 2016
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- Publication type:
- journal article
A Viperin Mutant Bearing the K358R Substitution Lost its Anti-ZIKA Virus Activity.
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- International Journal of Molecular Sciences, 2019, v. 20, n. 7, p. 1574, doi. 10.3390/ijms20071574
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- Publication type:
- Article
Targeting the ERK Signaling Pathway in Melanoma.
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- International Journal of Molecular Sciences, 2019, v. 20, n. 6, p. 1483, doi. 10.3390/ijms20061483
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- Publication type:
- Article
Mitochondria Synthesize Melatonin to Ameliorate Its Function and Improve Mice Oocyte's Quality under in Vitro Conditions.
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- International Journal of Molecular Sciences, 2016, v. 17, n. 6, p. 939, doi. 10.3390/ijms17060939
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- Publication type:
- Article
Genomic characterization of chronic lymphocytic leukemia (CLL) in radiation-exposed Chornobyl cleanup workers.
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- 2018
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- Publication type:
- journal article
A novel mutation of WFS1 gene in a Chinese patient with Wolfram syndrome: a case report.
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- 2018
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- Publication type:
- journal article
Clinical and genetic study of 20 patients from China with Cornelia de Lange syndrome.
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- 2018
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- Publication type:
- journal article
Chronic kidney disease is common in sickle cell disease: a cross-sectional study in the Tema Metropolis, Ghana.
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- BMC Nephrology, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12882-015-0072-y
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- Publication type:
- Article
Monoclonal antibody 7D5 recognizes the R147 epitope on the gp91<sup><italic>phox</italic></sup>, phagocyte flavocytochrome <italic>b</italic><sub>558</sub> large subunit.
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- Microbiology & Immunology, 2018, v. 62, n. 4, p. 269, doi. 10.1111/1348-0421.12584
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- Publication type:
- Article
Noncanonical placental Fc receptors: What is their role in modulating transplacental transfer of maternal IgG?
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- PLoS Pathogens, 2018, v. 14, n. 8, p. 1, doi. 10.1371/journal.ppat.1007161
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- Publication type:
- Article
Context-Dependent Role of Mitochondrial Fusion-Fission in Clonal Expansion of mtDNA Mutations.
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- PLoS Computational Biology, 2015, v. 11, n. 5, p. 1, doi. 10.1371/journal.pcbi.1004183
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- Article
Chapter 14: Cancer Genome Analysis.
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- PLoS Computational Biology, 2012, v. 8, n. 12, p. 1, doi. 10.1371/journal.pcbi.1002824
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- Publication type:
- Article
Exome sequencing & homozygosity mapping for identification of genetic aetiology for spastic ataxia in a consanguineous family.
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- Indian Journal of Medical Research, 2015, v. 142, n. 2, p. 220, doi. 10.4103/0971-5916.164262
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- Article
Epidermolysis bullosa requires lifelong monitoring.
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- Practitioner, 2019, v. 263, n. 1830, p. 21
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- Article
Women with endometriosis at raised risk of ovarian cancer.
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- Practitioner, 2018, v. 262, n. 1813, p. 8
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- Publication type:
- Article
High frequency of mutant thiopurine S-methyltransferase genotypes in Mexican patients with systemic lupus erythematosus and rheumatoid arthritis.
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- Clinical Rheumatology, 2018, v. 37, n. 4, p. 963, doi. 10.1007/s10067-017-3955-4
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- Publication type:
- Article
A Brazilian family with inclusion body myopathy associated with Paget’s disease of bone and frontotemporal dementia linked to the <italic>VCP</italic> pGly97Glu mutation.
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- Clinical Rheumatology, 2018, v. 37, n. 4, p. 1129, doi. 10.1007/s10067-017-3913-1
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- Article
Double mutation in DNA gyrase confers moxifloxacin resistance and decreased fitness of Mycobacterium smegmatis.
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- 2017
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- Publication type:
- journal article
Standardized interpretation of antibiotic susceptibility testing and resistance genotyping for Mycobacterium abscessus with regard to subspecies and erm41 sequevar.
- Published in:
- 2016
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- Publication type:
- journal article
PARP Inhibitors Least Cost-Effective as Maintenance Therapy in Advanced Ovarian Cancer.
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- Value-Based Cancer Care, 2018, v. 9, n. 2, p. 37
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- Publication type:
- Article
Next-Generation Sequencing More Cost-Effective and Faster Than Single-Gene Testing.
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- Value-Based Cancer Care, 2018, v. 9, n. 2, p. 37
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- Publication type:
- Article
Tubular Dysfunction Mimicking Dent's Disease in 2 Infants Born with Extremely Low Birth Weight.
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- Case Reports in Nephrology & Dialysis, 2017, v. 7, n. 1, p. 13, doi. 10.1159/000455828
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- Publication type:
- Article
Mitochondrial DNA mutation load in a family with the m.8344A>G point mutation and lipomas: a case study.
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- Clinical Case Reports, 2017, v. 5, n. 12, p. 2034, doi. 10.1002/ccr3.1096
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- Publication type:
- Article
Developmental progression of intellectual disability, autism, and epilepsy in a child with an IQSEC2 gene mutation.
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- Clinical Case Reports, 2017, v. 5, n. 10, p. 1639, doi. 10.1002/ccr3.1139
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- Publication type:
- Article
Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors.
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- Annals of Clinical & Translational Neurology, 2018, v. 5, n. 3, p. 333, doi. 10.1002/acn3.532
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- Publication type:
- Article
Selected missense mutations impair frataxin processing in Friedreich ataxia.
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- Annals of Clinical & Translational Neurology, 2017, v. 4, n. 10, p. 764, doi. 10.1002/acn3.490
- Publication type:
- Article
Comment on: A novel dysferlin-mutant pseudoexon bypassed with antisense oligonucleotides.
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- Annals of Clinical & Translational Neurology, 2015, v. 2, n. 7, p. 783, doi. 10.1002/acn3.216
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- Publication type:
- Article