Works matching DE "DELETION mutation"
Results: 4058
Uncoupling Protein-2 45-Base Pair Insertion/Deletion Polymorphism: Is There an Association with Severe Obesity and Weight Loss in Morbidly Obese Subjects?
- Published in:
- Metabolic Syndrome & Related Disorders, 2012, v. 10, n. 4, p. 307, doi. 10.1089/met.2012.0003
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- Publication type:
- Article
Simple and Efficient Targeted Intracellular Protein Delivery with Self‐Assembled Nanovehicles for Effective Cancer Therapy.
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- Advanced Functional Materials, 2019, v. 29, n. 50, p. N.PAG, doi. 10.1002/adfm.201906187
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- Publication type:
- Article
Analyses of diverse low alkaloid tobacco germplasm identify naturally occurring nucleotide variability contributing to reduced leaf nicotine accumulation.
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- Molecular Breeding, 2022, v. 42, n. 1, p. 1, doi. 10.1007/s11032-021-01274-5
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- Publication type:
- Article
Inheritance and gene mapping of spotted to non-spotted trait gene CmSp-1 in melon (Cucumis melo L. var. chinensis Pangalo).
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- Molecular Breeding, 2018, v. 38, n. 8, p. 1, doi. 10.1007/s11032-018-0860-8
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- Publication type:
- Article
Genetic separation of southern and northern soybean breeding programs in North America and their associated allelic variation at four maturity loci.
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- Molecular Breeding, 2017, v. 37, n. 1, p. 1, doi. 10.1007/s11032-016-0611-7
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- Publication type:
- Article
High frequency of chromosome deletions in regenerated and mutagenized apple ( Malus × domestica Borkh.) seedlings.
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- Molecular Breeding, 2015, v. 35, n. 1, p. 1, doi. 10.1007/s11032-015-0199-3
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- Publication type:
- Article
Detection of allelic variation at the Wx locus with single-segment substitution lines in rice ( Oryza sativa L.).
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- Molecular Breeding, 2012, v. 30, n. 1, p. 583, doi. 10.1007/s11032-011-9647-x
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- Publication type:
- Article
The effects of the Ncw2 protein of Saccharomyces cerevisiae on the positioning of chitin in response to cell wall damage.
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- Antonie van Leeuwenhoek, 2020, v. 113, n. 2, p. 265, doi. 10.1007/s10482-019-01335-y
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- Publication type:
- Article
A phylogenomic reappraisal of family-level divisions within the class Halobacteria: proposal to divide the order Halobacteriales into the families Halobacteriaceae, Haloarculaceae fam. nov., and Halococcaceae fam. nov., and the order Haloferacales into the families, Haloferacaceae and Halorubraceae fam nov.
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- Antonie van Leeuwenhoek, 2016, v. 109, n. 4, p. 565, doi. 10.1007/s10482-016-0660-2
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- Publication type:
- Article
Characterization of methicillin-resistant coagulase-negative staphylococci in milk from cows with mastitis in Brazil.
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- Antonie van Leeuwenhoek, 2014, v. 106, n. 2, p. 227, doi. 10.1007/s10482-014-0185-5
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- Publication type:
- Article
The Effect of Mitochondrial DNA Half-Life on Deletion Mutation Proliferation in Long Lived Cells.
- Published in:
- Acta Biotheoretica, 2021, v. 69, n. 4, p. 671, doi. 10.1007/s10441-021-09417-z
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- Publication type:
- Article
Genetic Contribution to Congenital Heart Disease (CHD).
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- Pediatric Cardiology, 2020, v. 41, n. 1, p. 12, doi. 10.1007/s00246-019-02271-4
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- Publication type:
- Article
The Impact of 22q11.2 Microdeletion on Cardiac Surgery Postoperative Outcome.
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- Pediatric Cardiology, 2017, v. 38, n. 8, p. 1680, doi. 10.1007/s00246-017-1713-7
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- Publication type:
- Article
Genetic Testing Protocol Reduces Costs and Increases Rate of Genetic Diagnosis in Infants with Congenital Heart Disease.
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- Pediatric Cardiology, 2017, v. 38, n. 7, p. 1465, doi. 10.1007/s00246-017-1685-7
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- Publication type:
- Article
Very Low Rates of Spontaneous Gene Deletions and Gene Duplications in Dictyostelium discoideum.
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- Journal of Molecular Evolution, 2023, v. 91, n. 1, p. 24, doi. 10.1007/s00239-022-10081-1
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- Publication type:
- Article
Correlation Analysis Reveals an Important Role of GC Content in Accumulation of Deletion Mutations in the Coding Region of Angiosperm Plastomes.
- Published in:
- Journal of Molecular Evolution, 2021, v. 89, n. 1/2, p. 73, doi. 10.1007/s00239-020-09987-5
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- Publication type:
- Article
Pathways of Genetic Code Evolution in Ancient and Modern Organisms.
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- Journal of Molecular Evolution, 2015, v. 80, n. 5/6, p. 229, doi. 10.1007/s00239-015-9686-8
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- Publication type:
- Article
Low Levels of LTR Retrotransposon Deletion by Ectopic Recombination in the Gigantic Genomes of Salamanders.
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- Journal of Molecular Evolution, 2015, v. 80, n. 2, p. 120, doi. 10.1007/s00239-014-9663-7
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- Publication type:
- Article
Hypomagnesemia with Hypercalciuria Leading to Nephrocalcinosis, Amelogenesis Imperfecta, and Short Stature in a Child Carrying a Homozygous Deletion in the CLDN16 Gene.
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- Calcified Tissue International, 2020, v. 107, n. 4, p. 403, doi. 10.1007/s00223-020-00726-y
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- Publication type:
- Article
Loss of Lgals3 Protects Against Gonadectomy-Induced Cortical Bone Loss in Mice.
- Published in:
- 2020
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- Publication type:
- journal article
Osteogenesis Imperfecta Type I Caused by COL1A1 Deletions.
- Published in:
- 2016
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- Publication type:
- journal article
Genetic deletion of aquaporin-1 results in microcardia and low blood pressure in mouse with intact nitric oxide-dependent relaxation, but enhanced prostanoids-dependent relaxation.
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- Pflügers Archiv: European Journal of Physiology, 2014, v. 466, n. 2, p. 237, doi. 10.1007/s00424-013-1325-x
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- Publication type:
- Article
MYBPC3's alternate ending: consequences and therapeutic implications of a highly prevalent 25 bp deletion mutation.
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- Pflügers Archiv: European Journal of Physiology, 2014, v. 466, n. 2, p. 207, doi. 10.1007/s00424-013-1417-7
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- Publication type:
- Article
Cryo-EM structures of cotton wool plaques' amyloid β and of tau filaments in dominantly inherited Alzheimer disease.
- Published in:
- Acta Neuropathologica, 2024, v. 148, n. 1, p. 1, doi. 10.1007/s00401-024-02786-y
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- Publication type:
- Article
Mutation ∆K281 in MAPT causes Pick's disease.
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- Acta Neuropathologica, 2023, v. 146, n. 2, p. 211, doi. 10.1007/s00401-023-02598-6
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- Publication type:
- Article
Multiplatform molecular analyses refine classification of gliomas arising in patients with neurofibromatosis type 1.
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- Acta Neuropathologica, 2022, v. 144, n. 4, p. 747, doi. 10.1007/s00401-022-02478-5
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- Publication type:
- Article
Gliomas arising in the setting of Li-Fraumeni syndrome stratify into two molecular subgroups with divergent clinicopathologic features.
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- Acta Neuropathologica, 2020, v. 139, n. 5, p. 953, doi. 10.1007/s00401-020-02144-8
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- Publication type:
- Article
DMD genomic deletions characterize a subset of progressive/higher-grade meningiomas with poor outcome.
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- Acta Neuropathologica, 2018, v. 136, n. 5, p. 779, doi. 10.1007/s00401-018-1899-7
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- Publication type:
- Article
High rate of concurrent BRAF- KIAA1549 gene fusion and 1p deletion in disseminated oligodendroglioma-like leptomeningeal neoplasms (DOLN).
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- 2015
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- Publication type:
- Letter
TP53 loss creates therapeutic vulnerability in colorectal cancer.
- Published in:
- Nature, 2015, v. 520, n. 7549, p. 697, doi. 10.1038/nature14418
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- Publication type:
- Article
PTEN action in leukaemia dictated by the tissue microenvironment.
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- Nature, 2014, v. 510, n. 7505, p. 402, doi. 10.1038/nature13239
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- Publication type:
- Article
Genome-defence small RNAs exapted for epigenetic mating-type inheritance.
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- Nature, 2014, v. 509, n. 7501, p. 447, doi. 10.1038/nature13318
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- Publication type:
- Article
Copper is required for oncogenic BRAF signalling and tumorigenesis.
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- Nature, 2014, v. 509, n. 7501, p. 492, doi. 10.1038/nature13180
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- Publication type:
- Article
Synthetic biology: Construction of a yeast chromosome.
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- Nature, 2014, v. 509, n. 7499, p. 168, doi. 10.1038/509168a
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- Article
Divergent angiocrine signals from vascular niche balance liver regeneration and fibrosis.
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- Nature, 2014, v. 505, n. 7481, p. 97, doi. 10.1038/nature12681
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- Publication type:
- Article
SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients.
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- Nature, 2013, v. 503, n. 7475, p. 267, doi. 10.1038/nature12618
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- Publication type:
- Article
Maternal imprinting at the H19-Igf2 locus maintains adult haematopoietic stem cell quiescence.
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- Nature, 2013, v. 500, n. 7462, p. 345, doi. 10.1038/nature12303
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- Publication type:
- Article
CXCL12 in early mesenchymal progenitors is required for haematopoietic stem-cell maintenance.
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- Nature, 2013, v. 495, n. 7440, p. 227, doi. 10.1038/nature11926
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- Publication type:
- Article
DiGeorge Syndrome Diagnosed at Age 38: Challenges in Low-resource Settings and Implications of a Missed Diagnosis.
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- JCEM Case Reports, 2024, v. 2, n. 7, p. 1, doi. 10.1210/jcemcr/luae136
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- Publication type:
- Article
Effect of Deletions of the Genes Encoding Pho3p and Bgl2p on Polyphosphate Level, Stress Adaptation, and Attachments of These Proteins to Saccharomyces cerevisiae Cell Wall.
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- Biochemistry (00062979), 2023, v. 88, n. 1, p. 152, doi. 10.1134/S0006297923010133
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- Publication type:
- Article
Investigation of Functional Role of a Novel Biomarker: CCNC Gene Deletion on Human Leukemia Cancer.
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- International Journal of High School Research, 2023, v. 5, n. 7, p. 136, doi. 10.36838/v5i7.22
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- Publication type:
- Article
A de novo microdeletion 2p24.3-25.1 identified in a girl with global development delay.
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- BioDiscovery, 2017, p. 1, doi. 10.7750/BioDiscovery.2015.18.1
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- Publication type:
- Article
Two candidate genes for recurrent pregnancy loss and infertility: Could ZP3 and UPK3B give us new diagnostic and therapeutic approach?
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- BioDiscovery, 2017, p. 1, doi. 10.3897/biodiscovery.20.e20113
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- Publication type:
- Article
Small Molecule Inhibitors of MDM2-p53 and MDMX-p53 Interactions as New Cancer Therapeutics.
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- BioDiscovery, 2017, p. 1, doi. 10.7750/BioDiscovery.2013.8.4
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- Publication type:
- Article
MicroRNAs of the miR-17∼92 family are critical regulators of T<sub>FH</sub> differentiation.
- Published in:
- Nature Immunology, 2013, v. 14, n. 8, p. 849, doi. 10.1038/ni.2648
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- Publication type:
- Article
Intracellular antibody-bound pathogens stimulate immune signaling via the Fc receptor TRIM21.
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- Nature Immunology, 2013, v. 14, n. 4, p. 327, doi. 10.1038/ni.2548
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- Publication type:
- Article
Apc.LaeA and Apc.VeA of the velvet complex govern secondary metabolism and morphological development in the echinocandin-producing fungus Aspergillus pachycristatus.
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- Journal of Industrial Microbiology & Biotechnology, 2020, v. 47, n. 1, p. 155, doi. 10.1007/s10295-019-02250-x
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- Publication type:
- Article
Engineering a newly isolated Bacillus licheniformis strain for the production of (2R,3R)-butanediol.
- Published in:
- Journal of Industrial Microbiology & Biotechnology, 2020, v. 47, n. 1, p. 97, doi. 10.1007/s10295-019-02249-4
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- Publication type:
- Article
Overexpression of SNF4 and deletions of REG1- and REG2-enhanced maltose metabolism and leavening ability of baker’s yeast in lean dough.
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- Journal of Industrial Microbiology & Biotechnology, 2018, v. 45, n. 9, p. 827, doi. 10.1007/s10295-018-2058-9
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- Publication type:
- Article
Editing Aspergillus terreus using the CRISPR-Cas9 system.
- Published in:
- Synthetic Biology (23977000), 2022, v. 7, n. 1, p. 1, doi. 10.1093/synbio/ysac031
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- Publication type:
- Article