Works matching DE "POINT mutation (Biology)"
Results: 569
Treatment-Emergent Resistance to Asciminib in Chronic Myeloid Leukemia Patients Due to Myristoyl-Binding Pocket-Mutant of BCR::ABL1/A337V Can Be Effectively Overcome with Dasatinib Treatment.
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- Current Oncology, 2025, v. 32, n. 2, p. 97, doi. 10.3390/curroncol32020097
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- Article
Isolation of a Non-Urea-Producing Sake Yeast Strain Carrying a Discriminable Molecular Marker.
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- Bioscience, Biotechnology & Biochemistry, 2013, v. 77, n. 12, p. 2505, doi. 10.1271/bbb.130621
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- Article
Loss-of-Function Mutation in Bi-Functional Marine Bacterial Sialyltransferase.
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- Bioscience, Biotechnology & Biochemistry, 2012, v. 76, n. 9, p. 1639, doi. 10.1271/bbb.120133
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- Article
A possible structural basis behind the pathogenic role of apolipoprotein E hereditary mutations associated with lipoprotein glomerulopathy.
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- Clinical & Experimental Nephrology, 2014, v. 18, n. 2, p. 225, doi. 10.1007/s10157-013-0886-5
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- Article
HCN Channel C-Terminal Region Speeds Activation Rates Independently of Autoinhibition.
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- 2015
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- Publication type:
- journal article
Shaker IR T449 Mutants Separate C- from U-Type Inactivation.
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- Journal of Membrane Biology, 2014, v. 247, n. 4, p. 319, doi. 10.1007/s00232-014-9634-3
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- Article
Myosin VI in skeletal muscle: its localization in the sarcoplasmic reticulum, neuromuscular junction and muscle nuclei.
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- Histochemistry & Cell Biology, 2013, v. 139, n. 6, p. 873, doi. 10.1007/s00418-012-1070-9
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- Article
Orlistat response to missense mutations in lipoprotein lipase.
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- Biotechnology & Applied Biochemistry, 2017, v. 64, n. 4, p. 464, doi. 10.1002/bab.1500
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- Article
Rational design of a thermostable glycoside hydrolase from family 3 introduces β-glycosynthase activity.
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- Glycobiology, 2017, v. 27, n. 2, p. 165, doi. 10.1093/glycob/cww081
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- Article
Thermostabilization of Bacillus subtilis lipase A by minimizing the structural deformation caused by packing enhancement.
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- Journal of Industrial Microbiology & Biotechnology, 2013, v. 40, n. 11, p. 1223, doi. 10.1007/s10295-013-1330-2
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- Article
Restriction digest screening facilitates efficient detection of site-directed mutations introduced by CRISPR in C. albicans UME6.
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- PeerJ, 2018, p. 1, doi. 10.7717/peerj.4920
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- Article
RESPONSE.
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- 2015
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- Publication type:
- Letter to the Editor
Eye movement and vestibular dysfunction in mitochondrial A3243G mutation.
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- 2016
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- Publication type:
- journal article
A novel LITAF/SIMPLE variant within a family with minimal demyelinating Charcot-Marie-Tooth disease.
- Published in:
- 2014
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- Publication type:
- Letter
Twinkle mutations in two Chinese families with autosomal dominant progressive external ophthalmoplegia.
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- Neurological Sciences, 2014, v. 35, n. 3, p. 443, doi. 10.1007/s10072-013-1557-8
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- Publication type:
- Article
Inherited neuropathies and deafness caused by a PMP22 point mutation: a case report and a review of the literature.
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- 2013
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- Publication type:
- Letter
Identification of new putative driver mutations and predictors of disease evolution in chronic lymphocytic leukemia.
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- 2019
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- Publication type:
- Letter to the Editor
Recurrent F8 and F9 gene variants result from a founder effect in two large French haemophilia cohorts.
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- Haemophilia, 2018, v. 24, n. 4, p. e213, doi. 10.1111/hae.13480
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- Article
COTIP: Cotton TILLING Platform, a Resource for Plant Improvement and Reverse Genetic Studies.
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- Frontiers in Plant Science, 2016, v. 7, p. 1, doi. 10.3389/fpls.2016.01863
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- Article
Single point mutations in the helicase domain of the NS3 protein enhance dengue virus replicative capacity in human monocyte-derived dendritic cells and circumvent the type I interferon response.
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- Clinical & Experimental Immunology, 2016, v. 183, n. 1, p. 114, doi. 10.1111/cei.12701
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- Article
EFFECT OF ACID-ALCOHOL TREATMENT ON PHYSICOCHEMICAL PROPERTIES OF CARIOCA BEAN (Phaseolus vulgaris L.) STARCH.
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- Carpathian Journal of Food Science & Technology, 2017, v. 9, n. 3, p. 50
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- Article
Genetic Mosaics and the Germ Line Lineage.
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- Genes, 2015, v. 6, n. 2, p. 216, doi. 10.3390/genes6020216
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- Article
IL-6 and IL-11 as Markers for Tumor Aggressiveness and Prognosis in Gastric Adenocarcinoma Patients without Mutations in Gp130 Subunits.
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- Journal of Gastrointestinal & Liver Diseases, 2012, v. 21, n. 1, p. 23
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- Publication type:
- Article
Primary Clarithromycin Resistance in Helicobacterpylori: the Multicentric Italian Clarithromycin Resistance Observational (MICRO) Study.
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- Journal of Gastrointestinal & Liver Diseases, 2011, v. 20, n. 3, p. 235
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- Publication type:
- Article
The PALB2 p.Leu939Trp mutation is not associated with breast cancer risk.
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- Breast Cancer Research, 2016, v. 18, p. 1, doi. 10.1186/s13058-016-0762-9
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- Publication type:
- Article
X-Linked Adrenal Hypoplasia Congenita in a Boy due to a Novel Deletion of the Entire NR0B1 (DAX1) and MAGEB1–4 Genes.
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- International Journal of Endocrinology, 2016, p. 1, doi. 10.1155/2016/5178953
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- Publication type:
- Article
Genetic epidemiology of Charcot-Marie-Tooth disease.
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- Acta Neurologica Scandinavica, 2012, v. 126, p. 1, doi. 10.1111/ane.12013
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- Article
Investigating the Alpha1NcoI Mutation.
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- Acta Haematologica, 2015, v. 133, n. 2, p. 145, doi. 10.1159/000363440
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- Publication type:
- Article
Nondeletional α-Thalassemia (α2- IVS-1-116, A>G HBA2): An α2 Gene Point Mutation Detected in an African-American Female for the First Time.
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- Acta Haematologica, 2014, v. 132, n. 1, p. 22, doi. 10.1159/000355426
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- Article
Familial multifocal micronodular pneumocyte hyperplasia with a novel splicing mutation in TSC1: Three cases in one family.
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- PLoS ONE, 2019, v. 14, n. 2, p. 1, doi. 10.1371/journal.pone.0212370
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- Article
Generation of TGFBI knockout ABCG2+/ABCB5+ double-positive limbal epithelial stem cells by CRISPR/Cas9-mediated genome editing.
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- PLoS ONE, 2019, v. 14, n. 2, p. 1, doi. 10.1371/journal.pone.0211864
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- Publication type:
- Article
Dissection of the regulatory role for the N-terminal domain in Candida albicans protein phosphatase Z1.
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- PLoS ONE, 2019, v. 14, n. 2, p. 1, doi. 10.1371/journal.pone.0211426
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- Publication type:
- Article
A complex hierarchical quorum-sensing circuitry modulates phenazine gene expression in Pseudomonas aeruginosa.
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- Journal of Infection in Developing Countries, 2017, v. 11, n. 12, p. 919, doi. 10.3855/jidc.8775
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- Article
Mapping the receptor site for ergtoxin, a specific blocker of ERG channels.
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- FEBS Letters, 2002, v. 510, n. 1-2, p. 45, doi. 10.1016/S0014-5793(01)03218-5
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- Article
Definition of a Molecular Pathway Mediating a-Synuclein Neurotoxicity.
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- Journal of Neuroscience, 2015, v. 35, n. 13, p. 5221, doi. 10.1523/JNEUROSCI.4650-14.2015
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- Publication type:
- Article
Low Prevalence of Antimalarial Resistance Mutations in India During 2014–2015: Impact of Combining First-line Therapy With Primaquine.
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- Journal of Infectious Diseases, 2024, v. 229, n. 5, p. 1574, doi. 10.1093/infdis/jiad553
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- Article
Activating CBL mutations are associated with a distinct MDS/MPN phenotype.
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- Annals of Hematology, 2012, v. 91, n. 11, p. 1713, doi. 10.1007/s00277-012-1521-3
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- Article
DeNovoGear: de novo indel and point mutation discovery and phasing.
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- Nature Methods, 2013, v. 10, n. 10, p. 985, doi. 10.1038/nmeth.2611
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- Article
Ghosal type hematodiaphyseal dysplasia.
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- Indian Pediatrics, 2016, v. 53, n. 4, p. 347, doi. 10.1007/s13312-016-0851-y
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- Article
Suppression of different classes of somatic mutations in Arabidopsis by vir gene-expressing Agrobacterium strains.
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- BMC Plant Biology, 2015, v. 15, n. 1, p. 1, doi. 10.1186/s12870-015-0595-1
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- Article
MAESTRO - multi agent stability prediction upon point mutations.
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- BMC Bioinformatics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12859-015-0548-6
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- Publication type:
- Article
Deep mutagenesis scanning using whole trimeric SARS-CoV-2 spike highlights the importance of NTD-RBD interactions in determining spike phenotype.
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- PLoS Pathogens, 2023, v. 19, n. 8, p. 1, doi. 10.1371/journal.ppat.1011545
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- Article
Genetic analyses led to the discovery of a super-active mutant of the RNA polymerase I.
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- PLoS Genetics, 2019, v. 15, n. 5, p. 1, doi. 10.1371/journal.pgen.1008157
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- Publication type:
- Article
Deleterious mitochondrial DNA point mutations are overrepresented in Drosophila expressing a proofreading-defective DNA polymerase γ.
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- PLoS Genetics, 2018, v. 14, n. 11, p. 1, doi. 10.1371/journal.pgen.1007805
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- Publication type:
- Article
Rationally Designed α-Helical Broad-Spectrum Antimicrobial Peptides with Idealized Facial Amphiphilicity.
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- Macromolecular Rapid Communications, 2013, v. 34, n. 1, p. 74, doi. 10.1002/marc.201200534
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- Article
Characterization and a point mutational approach of a psychrophilic lipase from an arctic bacterium, Bacillus pumilus.
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- Biotechnology Letters, 2014, v. 36, n. 6, p. 1295, doi. 10.1007/s10529-014-1475-8
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- Publication type:
- Article
Functional Analysis of the EspR Binding Sites Upstream of espR in Mycobacterium tuberculosis.
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- Current Microbiology, 2013, v. 67, n. 5, p. 572, doi. 10.1007/s00284-013-0404-8
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- Publication type:
- Article
Mullerian dysgenesis: a critical review of the literature.
- Published in:
- 2017
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- Publication type:
- journal article
Bilateral chorea-ballism and diabetic ketoacidosis as the initial presentation of a case with maternally inherited diabetes and deafness.
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- Acta Diabetologica, 2017, v. 54, n. 8, p. 795, doi. 10.1007/s00592-017-0982-1
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- Publication type:
- Article
Progress in targeting RAS with small molecule drugs.
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- Biochemical Journal, 2019, v. 476, n. 2, p. 365, doi. 10.1042/BCJ20170441
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- Publication type:
- Article