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621
Whole-Genome Sequencing Revealed a Late-Maturing Isogenic Rice Koshihikari Integrated with Hd16 Gene Derived from an Ise Shrine Mutant
Published 2022-01-01“…Next, the linkage relationship of a single late-maturing gene with the SSR markers on the long arm of chromosome 3 was inferred by using late-maturing homozygous F2 segregants. …”
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622
An updated reference genome of Barbatula barbatula (Linnaeus, 1758)
Published 2025-01-01“…We used the species’ available chromosome scaffolds to finish the genome. The final assembly had a BUSCO score of 96.7%. …”
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623
Crown Gall Induced by a Natural Isolate of <i>Brucella</i> (<i>Ochrobactrum</i>) <i>pseudogrignonense</i> Containing a Tumor-Inducing Plasmid
Published 2025-01-01“…Whole-genome sequencing revealed that this bacterium contained three large DNA circles with rRNA and tRNA genes, representing one chromosome and two chromids, respectively, and two megaplasmids, including a Ti plasmid. …”
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624
Analysis of acute lymphoblastic leukemia drug sensitivity by changes in impedance via stromal cell adherence.
Published 2021-01-01“…This system was able to discriminate sensitivity of two relapsed Philadelphia chromosome (Ph) positive ALLs to four different targeted kinase inhibitors. …”
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625
Thanatophoric Dysplasia: A Report of 2 Cases with Antenatal Misdiagnosis
Published 2022-01-01“…Thanatophoric dysplasia (TD) is a rare but uniformly lethal inherited disorder of the skeletal system resulting from defects in the fibroblast growth factor receptor-3 gene on the short arm of chromosome ##4. It is characterised by pronounced shortening of the tubular bones resulting in significant short stature, macrocephaly, a funnel-shaped chest, protuberant abdomen, redundant skin in the limbs, and typical facies among others. …”
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626
Early growth response 1 transcription factor and its context-dependent functions in glioblastoma
Published 2024-08-01“…Despite its oncogenic functions, EGR1 can also suppress tumours by upregulating non-steroidal anti-inflammatory drug-activated gene 1 and phosphatase and tensin homolog deleted on chromosome ten, and inhibiting invasion and metastasis. …”
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627
Dental Treatment of a Child with Pallister-Killian Syndrome
Published 2016-01-01“…PKS is a multiple congenital anomaly deficit syndrome caused by mosaic tissue limited tetrasomy for chromosome 12p. The presented report is the first confirmed case with PKS in Turkey. …”
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628
EFFECT OF ALIEN GENOMIC INTROGRESSIONS ON THE OSMOTIC TOLERANCE OF WHEAT
Published 2015-01-01“…In particular, it was shown that the presence of the T6BS· 6BL-6SL translocation from the Ae. speltoides genome in bread wheat might increase its drought resistance, whereas the presence of a T. timopheevii introgression in chromosome 2A, on the contrary, reduced the resistance of wheat to osmotic stress. …”
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629
Prader-Willi Syndrome: Clinical Aspects
Published 2012-01-01“…The syndrome is due to the loss of expression of several genes encoded on the proximal long arm of chromosome 15 (15q11.2–q13). The complex phenotype is most probably caused by a hypothalamic dysfunction that is responsible for hormonal dysfunctions and for absence of the sense of satiety. …”
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630
Interspecific incompatibility in wide hybridization of plants and ways to overcome
Published 2016-09-01“…Early stages of the postzygotic period are crucial for developing hybrid seeds due to embryo’s death, including those associated with uniparental chromosome elimination in hybrid cells and abnormal development of the endosperm. …”
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631
Burkitt Lymphoma Presenting as Unilateral Deafness in an Immunocompetent Patient
Published 2012-01-01“…Routine karyotype as well as FISH analysis of bone marrow cells demonstrated rearrangement of the MYC gene at chromosome 8q24 region, IGH/MYC fusion, and additional signal for IGH gene. …”
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632
Adrenal Hypoplasia Congenita Presenting as Congenital Adrenal Hyperplasia
Published 2013-01-01“…Sequencing of the DAX1 gene (named for dosage-sensitive sex reversal (DSS) locus and the AHC locus on the X chromosome) revealed a missense mutation. A review of the literature revealed that elevated 11-deoxycortisol levels have been noted in kindreds with DAX1 mutations, but only when measured very early in life. …”
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633
A Hybrid Approach of Using Wavelets and Fuzzy Clustering for Classifying Multispectral Florescence In Situ Hybridization Images
Published 2006-01-01“…Multicolor or multiplex fluorescence in situ hybridization (M-FISH) imaging is a recently developed molecular cytogenetic diagnosis technique for rapid visualization of genomic aberrations at the chromosomal level. By the simultaneous use of all 24 human chromosome painting probes, M-FISH imaging facilitates precise identification of complex chromosomal rearrangements that are responsible for cancers and genetic diseases. …”
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634
The History of Methicillin-Resistant Staphylococcus aureus in Brazil
Published 2020-01-01“…In this review, we present the main events which compose the history of MRSA in Brazil, including numbers and locations of isolation, as well as types of staphylococcal cassette chromosome mec (SCCmec) found in the Brazilian territory.…”
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635
A Diagnosis of Maternal 22q Duplication and Mosaic Deletion following Prenatal Cell-Free DNA Screening
Published 2023-01-01“…Concurrent microduplication and microdeletion of the chromosome 22q11.2 region are a rarely reported phenomenon. …”
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636
Molecular mechanisms of autism as a form of synaptic dysfunction
Published 2017-02-01“…Deregulation of the local translation in dendrites is connected with the following monogenic autism spectrum disorders: neurofibromatosis type 1, Noonan syndrome, Costello syndrome, Cowden syndrome, tuberous sclerosis, fragile X chromosome, syndrome, and Rett syndrome. The review considers the most important mutations leading to monogenic autism, as well as the possibility of a mechanism-based treatment of certain disorders of the autism spectrum.…”
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637
The DNA Replication Stress Hypothesis of Alzheimer’s Disease
Published 2011-01-01“…Vulnerable neurons of the AD brain exhibit biomarkers of cell cycle progression and DNA replication suggesting a reentry into the cell cycle. Chromosome reduplication without proper cell cycle completion and mitotic division probably causes neuronal cell dysfunction and death. …”
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638
Systemic lupus erythematosus in a patient with 22q11.2 deletion syndrome: A case report and review of the literature
Published 2024-11-01“…22q11.2 deletion syndrome (MIM: 192430/188400, ORPHA: 567) is the most common chromosomal microdeletion disorder, caused by a hemizygous microdeletion of 2.5 million base pairs on chromosome 22. …”
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639
Structural and functional alterations in hematological parameters among individuals at clinically high risk for acute lymphocytic leukemia
Published 2024-12-01“…Furthermore, cytogenetic examination revealed frequent chromosomal defects, such as the Philadelphia chromosome and hyperdiploidy, which have been linked to a poor prognosis in ALL patients. …”
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640
Hybrid genetic algorithm to minimize scheduling cost with unequal and job dependent earliness tardiness cost
Published 2023-11-01“…The sequence of jobs produced in basic UET and JDET as a chromosome is added to the random population of GA. …”
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