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721
Molecular Mechanisms of Neurodegeneration Related to C9orf72 Hexanucleotide Repeat Expansion
Published 2019-01-01“…An earlier discovery that a hexanucleotide repeat expansion mutation in chromosome 9 open reading frame 72 (C9orf72) gene causes ALS and FTD established a special subtype of ALS and FTLD with TDP-43 pathology (C9FTD/ALS). …”
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722
Breeding for Heat Tolerant Aromatic Rice Varieties and Identification of Novel QTL Regions Associated with Heat Tolerance During Reproductive Phase by QTL-Seq
Published 2025-01-01“…Regarding the QTL-seq results, the qSF2.1 region ranged from 311 051 to 3 929 422 bp on chromosome 2, was identified based on the highest contrasting SNP index between the heat-susceptible and tolerant bulks. …”
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723
Development of Speech and Communication in Polish Children with 22q11.2 Deletion Syndrome: A Cross-Sectional Study
Published 2024-12-01“…Background/Objectives: 22q11.2 microdeletion syndrome (22q11DS) is a genetic disease caused by aberration of chromosome 22 that results in some phenotypic features and developmental disorders. …”
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724
Analysis of Biomolecular Changes in HeLa Cervical Cancer Cell Line Induced by Interaction with [Pd(dach)Cl<sub>2</sub>]
Published 2025-01-01“…A spectral analysis, complemented by statistics, revealed that the Pd(II) complex considerably affected all major types of macromolecules in HeLa cells and induced structural changes in proteins through an increased formation of cross-β-sheets and causes structural rearrangement in deoxyribonucleic acid (DNA) through potential chromosome fragmentation. Although a certain level of lipid peroxidation was detectable by SR FTIR spectroscopy and confirmed by an analysis of cellular lipids by matrix-assisted laser desorption and ionisation time-of-flight mass spectrometry, the oxidative stress is not a significant mechanism by which Pd(II) expresses the effect on the HeLa cells.…”
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725
The Construction of a Standard Karyotype of Intermediate Wheatgrass and Its Potential Progenitor Species
Published 2025-01-01“…MATO software was used to analyze chromosome length, arm ratio, and karyotype structure. …”
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726
Detection of t(14;16)(q32;q22) and Monosomy 13 by FISH Analysis in a Patient with Multiple Myeloma Associated with Sjögren’s Syndrome: The First Case Report from India
Published 2013-01-01“…To determine the partner chromosome associated with the IGH rearrangement, further FISH tests were set up for t(4;14)(p16;q32) followed by t(14;16)(q32;q22) on fresh slides. …”
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727
X-Linked Adrenal Hypoplasia Congenita in a Boy due to a Novel Deletion of the Entire NR0B1 (DAX1) and MAGEB1–4 Genes
Published 2016-01-01“…We show that NR0B1 (DAX1) gene analysis is important for confirmation of AHC diagnosis and highlights the role of genetic counseling in families with AHC patients, particularly those with X chromosome microdeletions, covering more than NR0B1 (DAX1) alone. …”
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728
Energy-Saving Metro Train Timetable Optimization Method Based on a Dynamic Passenger Flow Distribution
Published 2022-01-01“…The PSO-GA structure has PSO as the main body and integrates the chromosome crossover and mutation operations of the GA into the iterative process to improve the search efficiency of the algorithm. …”
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729
Novel Genomic Aberrations in Testicular Germ Cell Tumors by Array-CGH, and Associated Gene Expression Changes
Published 2006-01-01“…Additional frequent genomic aberrations revealed some shorter chromosomal segments, which are novel to TGCT, as well as known aberrations for which we here refined boundaries. …”
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730
Interfacial cfDNA Enrichment and Amplification with On‐Chip Thermoplasmonics for Highly Sensitive Cancerous Liquid Biopsy
Published 2025-01-01“…Typical cfDNA biomarkers, including epidermal growth factor receptor (EGFR), tumor protein 53 (TP53), phosphatase and tensin homologue deleted on chromosome 10 (PTEN), and cyclin‐dependent kinase inhibitor (CDKN2A), are quantified with detection limits down to femtomolar‐level. …”
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731
The role of highly dispersed silica nanoparticles in the realization of the effects of granulosa on the maturation and fertilization competence of <i>Sus scrofa domesticus</i> oocy...
Published 2022-06-01“…Optimal results of developmental competence of oocytes were achieved with the joint use of GCs and HDSn in the maturation system (the proportion of matured cells reached 89 %, the level of oocytes with chromosome degeneration was 12 %, 39 % of embryos reached the final stage of preimplantation development). …”
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732
SP140L, an Evolutionarily Recent Member of the SP100 Family, Is an Autoantigen in Primary Biliary Cirrhosis
Published 2015-01-01“…The SP100 family members comprise a set of closely related genes on chromosome 2q37.1. The widely expressed SP100 and the leukocyte-specific proteins SP110 and SP140 have been associated with transcriptional regulation and various human diseases. …”
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733
Gene Mining and Genetic Effect Analysis Reveal Novel Loci, <i>TaZn-2DS</i> Associated with Zinc Content in Wheat Grain
Published 2025-01-01“…Nine QTLs were identified on chromosomes 2D, 3B, 4A, 4D, 5A, 5B, 6A, 7A, and 7D. …”
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734
Correlation of Chimerism with Acute Graft-versus-Host Disease in Rats following Liver Transplantation
Published 2011-01-01“…Chimerism in PBMCs following sex-mismatched LT was identified by real-time PCR based on a rat Y-chromosome-specific primer. All recipients in semiallogeneic group grew in a normal pattern. …”
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735
Comparative assessment of the copy number of satellite repeats in the genome of Triticeae species
Published 2023-12-01“…Our assessment of the copy number of new satellite repeats in the St-genome and the analysis of their amplification specificity between species can contribute to the molecular-genetic and chromosome markers used for evolutionary, phylogenetic, and population studies of Triticeae species.…”
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736
Complete Genome Sequence of the Plant Growth-Promoting Bacterium Hartmannibacter diazotrophicus Strain E19T
Published 2019-01-01“…The E19T genome comprises one circular chromosome and one plasmid containing several genes involved in salt adaptation and genes related to plant growth-promoting traits under salt stress. …”
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737
Here and there: the double-side transgene localization
Published 2021-10-01“…This can be useful for precise insertion mapping and for screening approaches in the field of chromosome engineering, where chromosomal recombination events between transgenes occur in a cell population. …”
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738
DNA Amplifications and Aneuploidy, High Proliferative Activity and Impaired Cell Cycle Control Characterize Breast Carcinomas with Poor Prognosis
Published 2003-01-01“…In both short‐ and long‐term survivors recurrent chromosomal gains were mapped to chromosomes 1q, 4q, 8q, and 5p. …”
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739
TERT de novo mutation-associated dyskeratosis congenita and porto-sinusoidal vascular disease: a case report
Published 2025-01-01“…Conclusion When discovering reticular rash and unknown portal hypertension, it is necessary to perform whole exome sequencing and chromosome length testing to clarify the possibility of dyskeratosis congenita/telomere biology disorder with porto-sinusoidal vascular disease.…”
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740
NCAPD3‐mediated AKT activation regulates prostate cancer progression
Published 2025-02-01“…Non‐SMC Condensin II Complex Subunit D3 (NCAPD3) is a subunit of condensin II complex, mainly involved in the mitotic chromosome condensation of cells. This study aimed to figure out the detailed mechanisms by which NCAPD3 contributed to prostate cancer development. …”
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