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661
Identification of the Granule-Bound Starch Synthase (GBSS) Genes Involved in Amylose Biosynthesis in Tartary Buckwheat (<i>Fagopyrum tataricum</i> (L.) Gaertn.)
Published 2025-01-01“…Based on the genome data of Tartary buckwheat, five <i>FtGBSS</i> genes, namely <i>FtGBSS-1</i> to <i>FtGBSS-5</i>, were identified on three chromosomes, exhibiting about 1800 bp lengths in their CDSs and numerous exons and introns in gene structures. …”
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662
Dissection of the genetic basis and molecular mechanism of ovule number per ovary in oilseed rape (Brassica napus L.)
Published 2025-01-01“…Linkage mapping identified ten QTLs that were distributed on eight chromosomes and explained 7.0-15.9% of the phenotypic variance. …”
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663
Expression of the NUP153 and YWHAB genes from their canonical promoters and alternative promoters of the LINE-1 retrotransposon in the placenta of the first trimester of pregnancy
Published 2023-03-01“…In addition, there is an abnormal increase in the level of methylation of the LINE-1 retrotransposon in the chorionic trophoblast in spontaneous abortions with both normal karyotype and aneuploidy on different chromosomes, which may be associated with impaired gene transcription using LINE-1 regulatory elements. …”
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664
Potential Probiotic Yeasts of the Pichia Genus Isolated from ‘Dadih’, a Traditional Fermented Food of West Sumatra, Indonesia
Published 2024-12-01“…Whole-genome sequencing of P. kudriavzevii GBT37 identified a genome size of 10,906,850 base pairs, distributed across four chromosomes with a GC content of 38.26%. Notably, secondary metabolite biosynthesis genes were located on contig 7. …”
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665
Genome-wide identification and characterization of WRKYs family involved in responses to Cylindrocarpon destructans in Panax notoginseng
Published 2025-02-01“…Of these, 58 PnWRKY genes were mapped to the P. notoginseng chromosomes and showed collinearity with Arabidopsis thaliana, Daucus carota, and three Solanaceae species. …”
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666
Molecular mapping and validation of quantitative trait loci for content of micronutrients in wheat grain
Published 2025-01-01“…Among them, QFe.yaas-2D and QSe.yaas-2D were co-located on chromosome 2D, while QMn.yaas-4D and QZn.yaas-4D were co-located on chromosome 4D, which were in the dwarfing locus of Rht-D1 region. …”
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667
Telomere Length Is Associated With Adverse Atrial Remodeling in Patients With Atrial Fibrillation
Published 2025-02-01“…Telomeres, which are short, repeated DNA sequences at the end of chromosomes, are known to act as a biological aging marker. …”
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668
Construction of Recombinant Inbred Lines and Indentification of QTL for Grain Number Traits of Gaozhou Wild Rice
Published 2024-11-01“…The phenotypic contribution of one QTL on chromosome 11 was the highest, accounting for 13.78%. …”
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669
Exploring aneuploidies in two-center isolated bovine embryonic stem cell lines: Implications for cultured meat production
Published 2025-06-01“…Through shallow whole-genome sequencing, we identified various chromosomal anomalies, including mono-, tri-, and tetrasomies, with specific gains in chromosomes 7, 12, 27, and 29, and losses in chromosome 9. …”
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670
YHSeqY3000 panel captures all founding lineages in the Chinese paternal genomic diversity database
Published 2025-01-01“…Conclusions This work successfully integrated Y-chromosome-related basic genomic science with forensic and anthropological translational applications, emphasizing the necessity of comprehensively characterizing Y-chromosome genomic diversity from genomically under-representative populations. …”
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671
NCAPD3 promotes diffuse large B-cell lymphoma progression through modulating SIRT1 expression in an H3K9 monomethylation-dependent manner
Published 2025-02-01“…Introduction: Condensin, a family of structural maintenance of chromosome complexes, has been shown to regulate chromosome compaction and segregation during mitosis. …”
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672
Dissection of the genetic loci for grain hardness and variation of the key genes in common wheat (Triticum aestivum L.)
Published 2025-03-01“…Finally, eight QTL, which explained 8.29 % – 14.59 % of the phenotypic variation, were revealed on chromosomes 1 A, 1B, 3 A, 3B, 5 A, 5B and 5D (2). The previously reported major genes for GHI, Pina and Pinb, were anchored in Qghi.5D-1, which was repeatedly detected under all environments (BLUP included). …”
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673
An Optimized NGS Workflow Defines Genetically Based Prognostic Categories for Patients with Uveal Melanoma
Published 2025-01-01“…Methods: Following the findings published by “The Cancer Genome Atlas–UM” (TCGA-UM) study, we developed an NGS-based gene panel (called the UMpanel) that classifies mutation sets in four categories: initiating alterations (<i>CYSLTR2</i>, <i>GNA11</i>, <i>GNAQ</i> and <i>PLCB4</i>), prognostic alterations (<i>BAP1</i>, <i>EIF1AX</i>, <i>SF3B1</i> and <i>SRSF2</i>), emergent biomarkers (<i>CDKN2A</i>, <i>CENPE</i>, <i>FOXO1</i>, <i>HIF1A</i>, <i>RPL5</i> and <i>TP53</i>) and chromosomal abnormalities (imbalances in chromosomes 1, 3 and 8). …”
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674
408 Cases of Genital Ambiguity Followed by Single Multidisciplinary Team during 23 Years: Etiologic Diagnosis and Sex of Rearing
Published 2016-01-01“…There were 408 cases; 250 (61.3%) were 46,XY and 124 (30.4%) 46,XX and 34 (8.3%) had sex chromosomes abnormalities. 189 (46.3%) had 46,XY testicular DSD, 105 (25.7%) 46,XX ovarian DSD, 95 (23.3%) disorders of gonadal development (DGD), and 19 (4.7%) complex malformations. …”
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675
Production of all-triploid derived from gynogenetic homologous diploid crucian carp (♀) × diploid red crucian carp (♂)
Published 2025-03-01“…All 3nRR possessed 150 chromosomes and were triploid hybrids. The genetic characteristics of 5S rDNA in 3nRR individuals and their parental counterparts, as well as the measurable and countable traits, were explored. …”
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676
Mapping QTLs for early leaf spot resistance and yield component traits using an interspecific AB-QTL population in peanut
Published 2025-01-01“…Marker/trait associations enabled the mapping of five QTLs for ELS resistance on chromosomes A02, A03, A08, B04, and B09. Except for the QTL on chromosome B09, the wild species contributed favorable alleles at all other QTLs. …”
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677
Susceptibility to Aneuploidy in Young Mothers of Down Syndrome Children
Published 2009-01-01“…We recently observed an increased frequency of binucleated micronucleated lymphocytes in women who had a Down syndrome (DS) child before 35 years of age and the fluorescence in situ hybridization analysis revealed that micronuclei were mainly originating from chromosomal malsegregation events, including chromosome 21 malsegregation. …”
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678
Severe Psychomotor Delay in a Severe Presentation of Cat-Eye Syndrome
Published 2015-01-01“…Cat-eye syndrome is a rare genetic syndrome of chromosomal origin. Individuals with cat-eye syndrome are characterized by the presence of preauricular pits and/or tags, anal atresia, and iris coloboma. …”
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679
Monosomy 21 Seen in Live Born Is Unlikely to Represent True Monosomy 21: A Case Report and Review of the Literature
Published 2014-01-01“…Further investigation on fibroblast cells using conventional chromosome and FISH analysis revealed two additional mosaic cell lines; one is containing a ring chromosome 21 and the other a double ring chromosome 21. …”
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680
A Rare Interstitial Duplication of 8q22.1–8q24.3 Associated with Syndromic Bilateral Cleft Lip/Palate
Published 2014-01-01“…Chromosome microarray analysis evidenced a 49 Mb duplicated segment of chromosome 8q with no pathogenic imbalances on chromosome 22. …”
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