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1061
Genetic coupling of enhancer activity and connectivity in gene expression control
Published 2025-01-01“…Abstract Gene enhancers often form long-range contacts with promoters, but it remains unclear if the activity of enhancers and their chromosomal contacts are mediated by the same DNA sequences and recruited factors. …”
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1062
Clinical relevance and druggability of sole reciprocal kinase fusions: A large‐scale study
Published 2024-09-01“…Comparative analysis with an MSKCC cohort confirmed the prevalence in diverse cancer types and identified unique fusion partners and chromosomal locales. Cross‐validation through RNA‐NGS and FISH authenticated the existence of functional kinase domains in subsets including ALK, ROS1, RET, and BRAF, which correlated with positive clinical responses to targeted kinase inhibitors (KIs). …”
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1063
Comprehensive genome-wide analysis of ARF transcription factors in orchardgrass (Dactylis glomerata): the positive regulatory role of DgARF7 in drought resistance
Published 2025-02-01“…These DgARFs were unevenly distributed across the seven orchardgrass chromosomes and clustered into four classes. Phylogenetic analysis with multispecies of ARF proteins indicated that the ARFs exhibit a relatively conserved evolutionary path. …”
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1064
46,XY Disorder of Sex Development Caused by 17α-Hydroxylase/17,20-Lyase Deficiency due to Homozygous Mutation of CYP17A1 Gene: Consequences of Late Diagnosis
Published 2018-01-01“…Furthermore, diffuse osteopenia and osteoporosis and incomplete ossification of the growth plate cartilages were demonstrated. Chromosomal analysis showed a normal male 46,XY, karyotype, and on molecular analysis of the CYP17A1 gene she resulted homozygous for the g.4869T>A; g.4871delC (p.Y329Kfs?) …”
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1065
Epigenetic Alterations and an Increased Frequency of Micronuclei in Women with Fibromyalgia
Published 2013-01-01“…Results support the need for future research to further examine the potential role of epigenetic and acquired chromosomal alterations as a possible biological mechanism underlying FM.…”
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1066
Plant diversity and transcriptional variability assessed by retrotransposon-based molecular markers
Published 2017-03-01“…Various molecular marker systems have been developed that exploit the ubiquitous nature of these genetic elements and their property of stable integration into dispersed chromosomal loci that are polymorphic within species. …”
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1067
How to Manage Low Estriol Levels in Pregnancies, One Center Experience
Published 2022-03-01“…Although one fetal death was recorded, no chromosomal abnormality, SLOS, or congenital malformation was recorded in our series. …”
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1068
The plastid and mitochondrial genomes of <i>Vavilovia Formosa</i> (Stev.) Fed. and the phylogeny of related legume genera
Published 2020-01-01“…The organellar genomes were circular DNA molecules; the genome of mitochondria was represented by two circular chromosomes. A phylogenetic analysis on the basis of plastid genomes available in public databases was performed for some representatives of the tribes Fabeae, Trifolieae and Cicereae. …”
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1069
Telomere length varies with sex, hatching rank and year of birth in the Little Owl, Athene noctua
Published 2023-11-01“…Telomeres are non-coding DNA sequences located at the end of linear chromosomes, protecting genome integrity. In numerous taxa, telomeres shorten with age and telomere length (TL) is positively correlated with longevity. …”
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1070
Identification of GBN5 as a molecular biomarker of pan-cancer species by integrated multi-omics analysis
Published 2025-01-01“…In addition, GBN5 was positively correlated with multiple genomic scores, implying that higher GBN5 expression tends to imply that patients have higher chromosomal instability. More importantly, GBN5 has an important role in predicting drug sensitivity. …”
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1071
Low-density SNP marker sets for genetic variation analysis and variety identification in cultivated citrus
Published 2025-02-01“…Results A total of 26,903 high-quality SNPs were detected across nine chromosomes in the 144 citrus varieties, consisting of 70 C. unshiu, 40 C. sinensis, 22 interspecific hybrids, and 12 others. …”
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1072
Nuclear DNA content variation within four species of Asian catfish of family Pangasidae and their two interspecific hybrids by flow cytometry
Published 2020-10-01“… Nuclear DNA content (NDC) of species or population is believed to have been formed naturally by many mechanisms such chromosomal mutation, insertion and deletion, transposable element, and duplication. …”
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1073
Ammonium Transporter 1 (<i>AMT1</i>) Gene Family in Pomegranate: Genome-Wide Analysis and Expression Profiles in Response to Salt Stress
Published 2025-01-01“…Various characteristics of these genes, including gene length, coding sequence length, and chromosomal locations, were examined. This study evaluated the isoelectric point, hydropathicity, conserved domains, motifs, and synteny of the PgAMT1 proteins. …”
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1074
Liberties of the genome: insertions of mitochondrial DNA fragments into nuclear genome
Published 2024-09-01“…The transition of detached fragments of mitochondrial DNA into the nucleus and their integration into chromosomal DNA is a special kind of genetic variability that highlights the relation between the two genomes and their interaction in a eukaryotic cell. …”
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1075
Presence of the Anopheles culicifacies complex species A in southeast Iran
Published 2025-01-01“…Although the sibling species within this complex are morphologically indistinguishable, they differ significantly in their disease transmission potential, blood-feeding behaviour, and other biological traits. Cytogenetic and chromosomal studies have identified five sibling species within this complex: A, B, C, D, and E. …”
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1076
Detection of CRISPR cassettes and cas genes in the Arabidopsis thaliana genome
Published 2019-11-01“…Both cas genes and numerous CRISPR cassettes were found on all the five chromosomes in the nuclear genome of the Col-0 ecotype. …”
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1077
Influence of breed and environment on leukocyte telomere length in cattle
Published 2024-04-01“…Telomeres are elements found at the ends of chromosomes, consisting of repetitive DNA sequences, several thousand base pairs in length, coupled with nucleoprotein complexes. …”
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1078
Molecular genetic bases of seed resistance to oxidative stress during storage
Published 2020-08-01“…QTLs associated with barley seed longevity were identified on chromosomes 2H, 5H and 7H. In the QTL regions studied, the Zeo1, Ale, nud, nadp-me, and HvGR genes were identified. …”
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1079
Analysis of the transcriptional activity of model piggyBac transgenes stably integrated into different loci of the genome of CHO cells in the absence of selection pressure
Published 2023-12-01“…In total, ~640 transgenes more or less evenly distributed across all chromosomes of CHO cells were characterized. More than half of the transgenes were completely silent. …”
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1080
Cosmetic Outcome of Feminizing Genitoplasty in DSD (Disorders of Sex Development)
Published 2024-07-01“…Background: Disorders of sex development (DSD) include a diverse array of congenital disorders characterized by the abnormal growth of anatomical sex, chromosomes, gonads, & the brain, all of which are essential to the process of sexual differentiation. …”
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