U.S. flag

An official website of the United States government

Dot gov

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Https

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

PubAg

Main content area

You searched for: Subject "mutation" Remove constraint Subject: "mutation"
Start Over

Search

41,327  Search Results

« Previous | 1 - 20 of 41,327 |
Number of results to display per page

Search Results

1. Who ever thought genetic mutations were random?

Author:
Reiner A. Veitia
Source:
Trends in plant science 2022 pp. -
ISSN:
1360-1385
Subject:
mutation; mutation rate,   etc   ; Arabidopsis thaliana; essential genes; gene frequency; planting;     Show all 6 Subjects
Abstract:
... In a recent study of de novo mutations in arabidopsis (Arabidopsis thaliana), Monroe et al. found a lower mutation frequency inside gene bodies and certain essential genes, shattering the long-standing idea that mutations are entirely random across the genome. Here I highlight the molecular nonrandomness of mutations and the type of gene affected. ...
DOI:
10.1016/j.tplants.2022.03.003

2. Mutation accumulation in inbreeding populations under evolution of the selfing rate

Author:
Kuangyi Xu
Source:
Journal of evolutionary biology 2022 v.35 no.1 pp. 23-39
ISSN:
1010-061X
Subject:
mutation accumulation; mutation rate,   etc   ; conspecificity; extinction; genomics; outcrossing; risk; selfing; temporal variation;     Show all 9 Subjects
Abstract:
... It is theoretically established that self‐fertilization can facilitate mutation accumulation, thus increasing extinction risk. However, in previous studies, selfing rates are often set as fixed parameters, but in natural systems, evolution of selfing rates and deleterious mutations may mutually affect each other. I carried out simulations to investigate the dynamics of selfing rates and mutation a ...
DOI:
10.1111/jeb.13968

3. Susceptibility reversed: modified plant susceptibility genes for resistance to bacteria

Author:
Eleni Koseoglou; Jan M. van der Wolf; Richard G.F. Visser; Yuling Bai
Source:
Trends in plant science 2022 v.27 no.1 pp. 69-79
ISSN:
1360-1385
Subject:
mutation,   etc   ; mutants; pleiotropy;     Show all 3 Subjects
Abstract:
... Plants have evolved complex defence mechanisms to avoid invasion of potential pathogens. Despite this, adapted pathogens deploy effector proteins to manipulate host susceptibility (S) genes, rendering plant defences ineffective. The identification and mutation of plant S genes exploited by bacterial pathogens are important for the generation of crops with durable and broad-spectrum resistance. App ...
DOI:
10.1016/j.tplants.2021.07.018

4. Genetic alterations in patients with chronic leucocytosis and persistent thrombocytosis

Author:
Naoki Mori; Mari Ohwashi-Miyazaki; Kentaro Yoshinaga; Toshie Ogasawara; Shoko Marshall; Masayuki Shiseki; Hiroshi Sakura; Junji Tanaka
Source:
Journal of genetics 2022 v.101 no.1 pp. 11
ISSN:
0022-1333
Subject:
mutation,   etc   ; myeloid leukemia; patients;     Show all 3 Subjects
Abstract:
... To elucidate the relevance of genetic alterations, we analysed 17 genes known to be involved in haematological neoplasms in patients with chronic leucocytosis and patients with persistent thrombocytosis. Mutations of the JAK2, SETBP1 and ASXL1 genes were found in 1/13, 1/13, and 2/13 patients with leucocytosis, respectively. Mutations of the JAK2, CALR, SETBP1 and ASXL1 genes were found in 1/5, 1/ ...
DOI:
10.1007/s12041-021-01354-7

5. Toward an evolutionary framework for language variation and change

Author:
Emmanuel D. Ladoukakis; Dimitris Michelioudakis; Elena Anagnostopoulou
Source:
BioEssays 2022 v.44 no.3 pp. e2100216
ISSN:
0265-9247
Subject:
mutation,   etc   ; evolution; research programs;     Show all 3 Subjects
Abstract:
... In this paper, we identify the parallels and the differences between language and life as evolvable systems in pursuit of a framework that will investigate language change from the perspective of a general theory of evolution. Despite the consensus that languages change similarly to species, as reflected in the construction of language trees, the field has mainly applied biological techniques to s ...
DOI:
10.1002/bies.202100216

6. Introduction of mutant TP53 related genes in metabolic pathways and evaluation their correlation with immune cells, drug resistance and sensitivity

Author:
Ali Valipour Motlagh; Mohammad Mahdevar; Sepideh Mirzaei; Maliheh Entezari; Mehrdad Hashemi; Kiavash Hushmandi; Maryam Peymani
Source:
Life sciences 2022 v.303 pp. 120650
ISSN:
0024-3205
Subject:
mutation; mutation rate,   etc   ; carcinogenesis; databases; drug resistance; genes; glycolysis; humans; mutants; prognosis; sequence analysis; survival rate;     Show all 12 Subjects
Abstract:
... Although the relationship between TP53 mutation, TP53 metabolism pathways, and tumorigenesis has been investigated, pan-cancer analysis of TP53 mutations and related metabolism pathways is not completely available in common types of human cancers. Thus, this study was going to represent TP53 mutant-related metabolism genes and pathways in a pan-cancer study and investigate the relationship between ...
DOI:
10.1016/j.lfs.2022.120650

7. A single evolutionarily divergent mutation determines the different FAD‐binding affinities of human and rat NQO1 due to site‐specific phosphorylation

Author:
Juan Luis Pacheco‐Garcia; Dmitry Loginov; Bruno Rizzuti; Pavla Vankova; Jose L. Neira; Daniel Kavan; Noel Mesa‐Torres; Rita Guzzi; Petr Man; Angel L. Pey
Source:
FEBS letters 2022 v.596 no.1 pp. 29-41
ISSN:
0014-5793
Subject:
mutation,   etc   ; bioinformatics; humans; phosphorylation; rats;     Show all 5 Subjects
Abstract:
... The phosphomimetic mutation S82D in the cancer‐associated, FAD‐dependent human NADP(H):quinone oxidoreductase 1 (hNQO1) causes a decrease in flavin‐adenine dinucleotide‐binding affinity and intracellular stability. We test in this work whether the evolutionarily recent neutral mutation R80H in the vicinity of S82 may alter the strong functional effects of S82 phosphorylation through electrostatic ...
DOI:
10.1002/1873-3468.14238

8. Mice harboring the FXN I151F pathological point mutation present decreased frataxin levels, a Friedreich ataxia-like phenotype, and mitochondrial alterations

Author:
Marta Medina-Carbonero; Arabela Sanz-Alcázar; Elena Britti; Fabien Delaspre; Elisa Cabiscol; Joaquim Ros; Jordi Tamarit
Source:
Cellular and molecular life sciences 2022 v.79 no.2 pp. 74
ISSN:
1420-682X
Subject:
missense mutation; point mutation,   etc   ; aconitate hydratase; alleles; antioxidants; cerebellum; cerebrum; heart; homozygosity; humans; introns; mice; mitochondria; phenotype;     Show all 14 Subjects
Abstract:
... Friedreich Ataxia (FA) is a rare neuro-cardiodegenerative disease caused by mutations in the frataxin (FXN) gene. The most prevalent mutation is a GAA expansion in the first intron of the gene causing decreased frataxin expression. Some patients present the GAA expansion in one allele and a missense mutation in the other allele. One of these mutations, FXNI154F, was reported to result in decreased ...
DOI:
10.1007/s00018-021-04100-5

9. Allosteric Communication in the Multifunctional and Redox NQO1 Protein Studied by Cavity-Making Mutations

Author:
Juan Luis Pacheco-Garcia; Dmitry S. Loginov; Ernesto Anoz-Carbonell; Pavla Vankova; Rogelio Palomino-Morales; Eduardo Salido; Petr Man; Milagros Medina; Athi N. Naganathan; Angel L. Pey
Source:
Antioxidants 2022 v.11 no.6 pp. -
ISSN:
2076-3921
Subject:
mutation,   etc   ; active sites; leucine; proteins; solubility;     Show all 5 Subjects
Abstract:
... Allosterism is a common phenomenon in protein biochemistry that allows rapid regulation of protein stability; dynamics and function. However, the mechanisms by which allosterism occurs (by mutations or post-translational modifications (PTMs)) may be complex, particularly due to long-range propagation of the perturbation across protein structures. In this work, we have investigated allosteric commu ...
DOI:
10.3390/antiox11061110

10. Elongation of Fibrils Formed by a Tau Fragment is Inhibited by a Transient Dimeric Intermediate

Author:
Harish Kumar; Jayant B. Udgaonkar
Source:
Journal of physical chemistry 2022 v.126 no.18 pp. 3385-3397
ISSN:
1520-5207
Subject:
mutation,   etc   ; brain; chemical bonding; disulfides; mutants;     Show all 5 Subjects
Abstract:
... The formation and propagation of aggregates of the tau protein in the brain are associated with the tauopathy group of neurodegenerative diseases. Different tauopathies have been shown to be associated with structurally distinct aggregates of tau. However, the mechanism by which different structural folds arise remains poorly understood. In this study of fibril formation by the fragment tau-K18 of ...
DOI:
10.1021/acs.jpcb.1c10752

11. PNA microprobe for label-free detection of expanded trinucleotide repeats

Author:
Narges Asefifeyzabadi; Grace Durocher; Kizito-Tshitoko Tshilenge; Tanimul Alam; Lisa M. Ellerby; Mohtashim H. Shamsi
Source:
RSC advances 2022 v.12 no.13 pp. 7757-7761
ISSN:
2046-2069
Subject:
mutation,   etc   ; RNA; dielectric spectroscopy; microsatellite repeats;     Show all 4 Subjects
Abstract:
... We present a PNA microprobe sensing platform to detect trinucleotide repeat mutation by electrochemical impedance spectroscopy. The microprobe platform discriminated Huntington's disease-associated CAG repeats in cell-derived total RNA with S/N 1 : 3. This sensitive, label-free, and PCR-free detection strategy may be employed in the future to develop biosensing platforms for the detection of a ple ...
DOI:
10.1039/d2ra00230b

12. Spike Gene Evolution and Immune Escape Mutations in Patients with Mild or Moderate Forms of COVID-19 and Treated with Monoclonal Antibodies Therapies

Author:
Aude Jary; Stéphane Marot; Antoine Faycal; Sacha Leon; Sophie Sayon; Karen Zafilaza; Emna Ghidaoui; Stéphanie Nguyen Quoc; Safaa Nemlaghi; Sylvain Choquet; Martin Dres; Valérie Pourcher; Vincent Calvez; Helga Junot; Anne-Geneviève Marcelin; Cathia Soulié
Source:
Viruses 2022 v.14 no.2 pp. -
ISSN:
1999-4915
Subject:
mutation,   etc   ; COVID-19 infection; evolution; genes;     Show all 4 Subjects
Abstract:
... We explored the molecular evolution of the spike gene after the administration of anti-spike monoclonal antibodies in patients with mild or moderate forms of COVID-19. Four out of the 13 patients acquired a mutation during follow-up; two mutations (G1204E and E406G) appeared as a mixture without clinical impact, while the Q493R mutation emerged in two patients (one receiving bamlanivimab and one r ...
DOI:
10.3390/v14020226

13. TAL Effectors with Avirulence Activity in African Strains of Xanthomonas oryzae pv. oryzae

Author:
Marlène Lachaux; Emilie Thomas; Adam J. Bogdanove; Boris Szurek; Mathilde Hutin
Source:
Rice 2022 v.15 no.1 pp. 9
ISSN:
1939-8425
Subject:
gain-of-function mutation; loss-of-function mutation,   etc   ; Xanthomonas oryzae pv. oryzae; alleles; leaf blight; mutational analysis; pathogens; rice; virulence;     Show all 9 Subjects
Abstract:
... BACKGROUND: Xanthomonas oryzae pv. oryzae (Xoo) causes bacterial leaf blight, a devastating disease of rice. Among the type-3 effectors secreted by Xoo to support pathogen virulence, the Transcription Activator-Like Effector (TALE) family plays a critical role. Some TALEs are major virulence factors that activate susceptibility (S) genes, overexpression of which contributes to disease development. ...
DOI:
10.1186/s12284-022-00553-9

14. A frameshift deletion in the GDF9 gene in Icelandic Loa prolific sheep

Author:
Lars‐Erik Holm; Christian Bendixen; Emma Eythorsdottir; Jon H. Hallsson
Source:
Animal genetics 2022 v.53 no.2 pp. 220-223
ISSN:
0268-9146
Subject:
mutation,   etc   ; Loa; animal genetics; genes; phenotype; progeny;     Show all 6 Subjects
Abstract:
... Several genetic variants have been shown to affect the mean number of offspring in different sheep breeds. Here, we analyzed samples from Icelandic sheep with the aim of identifying the genetic cause of the Icelandic Loa phenotype using three previously identified prolificacy genes as candidates. We demonstrate that a 4‐bp frameshift deletion positioned in the mature region of the GDF9 protein in ...
DOI:
10.1111/age.13168

15. An exceptional biallelic N-terminal frame shift mutation in ZMPSTE24 leads to non-lethal progeria due to possible utilization of a downstream alternative start codon

Author:
Erich Schaflinger; Jasmin Blatterer; Aiman Saeed Khan; Lukas Kaufmann; Lisa Auinger; Benjamin Tatrai; Sumra Wajid Abbasi; Muhammad Zeeshan Ali; Ansar Ahmad Abbasi; Ali Al Kaissi; Erwin Petek; Klaus Wagner; Muzammil Ahmad Khan; Christian Windpassinger
Source:
Gene 2022 v.833 pp. 146582
ISSN:
0378-1119
Subject:
frameshift mutation,   etc   ; enzyme activity; homozygosity; start codon;     Show all 4 Subjects
Abstract:
... Biallelic mutations in ZMPSTE24 are known to be associated with autosomal recessive mandibuloacral dysplasia with type B lipodystrophy (MADB) and lethal restrictive dermopathy (RD), respectively. Disease manifestation is depending on the remaining enzyme activity of the mutated ZMPSTE24 protein. To date, complete loss of function has exclusively been reported in RD cases. In this study, we identif ...
DOI:
10.1016/j.gene.2022.146582

16. Identification of Novel Gene Variants for Autism Spectrum Disorders in the Lebanese Population Using Whole-Exome Sequencing

Author:
Perla Gerges; Tania Bitar; Frederic Laumonnier; Sylviane Marouillat; Georges Nemer; Christian R. Andres; Walid Hleihel
Source:
Genes 2022 v.13 no.2 pp. -
ISSN:
2073-4425
Subject:
mutation,   etc   ; autism; etiology; genes; neurodevelopment; pathophysiology; Lebanon;     Show all 7 Subjects
Abstract:
... In our previous study, in which array CGH was used on 19 Lebanese ASD subjects and their parents, we identified rare copy number variants (CNVs) in 14 subjects. The five remaining subjects did not show any CNVs related to autism spectrum disorders (ASD). In the present complementary study, we applied whole-exome sequencing (WES), which allows the identification of rare genetic variations such as s ...
DOI:
10.3390/genes13020186

17. Immune escape mutations selected by neutralizing antibodies in natural HIV-1 infection can alter coreceptor usage repertoire of the transmitted/founder virus

Author:
Manukumar Honnayakanahalli Marichannegowda; Hongshuo Song
Source:
Virology 2022 v.568 pp. 72-76
ISSN:
0042-6822
Subject:
mutation,   etc   ; HIV infections; evolution; phenotype; virology; viruses;     Show all 6 Subjects
Abstract:
... The ability of HIV-1 to evade neutralizing antibodies (NAbs) in vivo is well demonstrated, but the impact of NAb escape mutations on HIV-1 phenotype other than immune escape itself has rarely been studied. Here, we show that immune escape mutations selected by V3-glycan specific NAbs in vivo can alter coreceptor usage repertoire of the transmitted/founder (T/F) HIV-1. In a participant developed V3 ...
DOI:
10.1016/j.virol.2022.01.010

18. Knockout of OsNRAMP5 enhances rice tolerance to cadmium toxicity in response to varying external cadmium concentrations via distinct mechanisms

Author:
Li Tang; Jiayu Dong; Mengmeng Qu; Qiming Lv; Liping Zhang; Can Peng; Yuanyi Hu; Yaokui Li; Zhongying Ji; Bigang Mao; Yan Peng; Ye Shao; Bingran Zhao
Source:
Science of the total environment 2022 v.832 pp. 155006
ISSN:
0048-9697
Subject:
mutation,   etc   ; cadmium; environment; manganese; rice; risk; toxicity;     Show all 7 Subjects
Abstract:
... OsNRAMP5 is a transporter responsible for cadmium (Cd) and manganese (Mn) uptake and root-to-shoot translocation of Mn in rice plants. Knockout of OsNRAMP5 is regarded as an effective approach to minimize Cd uptake and accumulation in rice. It is vital to evaluate the effects of knocking out OsNRAMP5 on Cd and Mn accumulation, as well as Cd tolerance of rice plants in response to varying environme ...
DOI:
10.1016/j.scitotenv.2022.155006

19. Osteogenesis Imperfecta: Search for Mutations in Patients from the Republic of Bashkortostan (Russia)

Author:
Dina Nadyrshina; Aliya Zaripova; Anton Tyurin; Ildar Minniakhmetov; Ekaterina Zakharova; Rita Khusainova
Source:
Genes 2022 v.13 no.1 pp. -
ISSN:
2073-4425
Subject:
mutation,   etc   ; Russia; bone formation; genetic disorders; pathogenesis;     Show all 5 Subjects
Abstract:
... Osteogenesis imperfecta (OI) is an inherited disease of bone characterized by increased bone fragility. Here, we report the results of the molecular architecture of osteogenesis imperfecta research in patients from Bashkortostan Republic, Russia. In total, 16 mutations in COL1A1, 11 mutations in COL1A2, and 1 mutation in P3H1 and IFIMT5 genes were found in isolated states; 11 of them were not prev ...
DOI:
10.3390/genes13010124

20. All Ways Lead to Rome—Meiotic Stabilization Can Take Many Routes in Nascent Polyploid Plants

Author:
Adrián Gonzalo
Source:
Genes 2022 v.13 no.1 pp. -
ISSN:
2073-4425
Subject:
mutation,   etc   ; allopolyploidy; aneuploidy; coevolution; diploidy; epigenetics; fractionation; meiosis;     Show all 8 Subjects
Abstract:
... Newly formed polyploids often show extensive meiotic defects, resulting in aneuploid gametes, and thus reduced fertility. However, while many neopolyploids are meiotically unstable, polyploid lineages that survive in nature are generally stable and fertile; thus, those lineages that survive are those that are able to overcome these challenges. Several genes that promote polyploid stabilization are ...
DOI:
10.3390/genes13010147