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461
Repeated Long-Term DT Application in the DEREG Mouse Induces a Neutralizing Anti-DT Antibody Response
Published 2016-01-01“…Genetic tools exploiting the foxp3 locus including bacterial artificial chromosome- (BAC-) transgenic DEpletion of REGulatory T cells (DEREG) mice have provided essential information on Treg biology and the potential therapeutic modulation of tolerance. …”
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462
Plant Regeneration and Cellular Behaviour Studies in Celosia cristata Grown In Vivo and In Vitro
Published 2012-01-01“…It was observed that Mitotic Index (MI), mean chromosome numbers, and mean nuclear to cell area ratio of in vitro root meristem cells were slightly higher compared to in vivo values. …”
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463
Some Effective Tight-Binding Models for Electrons in DNA Conduction: A Review
Published 2010-01-01“…In addition, we investigated the localization properties of electronic states in several actual DNA sequences such as bacteriophages of Escherichia coli, human-chromosome 22, compared with those of the artificial disordered sequences with correlation. …”
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464
Iron-regulatory liver hormone hepcidin and its place in the system of congenital immunity
Published 2010-11-01“…Hepcidin is coded by HAMP gene (Hepcidin Antimicrobial Peptide) in chromosome 19. Expression peptide mRNA in hepatocytes is induced by proinflammatory cytokines (IL-1α, IL-6 and TNF-α) similar to acute phase proteins of inflammation, and also by liver iron overload. …”
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465
A Three-Generation Family with Idiopathic Facial Palsy Suggesting an Autosomal Dominant Inheritance with High Penetrance
Published 2015-01-01“…The mode of inheritance of IFP has previously been suggested as autosomal dominant with low or variable penetrance, but the present family indicates an autosomal dominant trait with high or complete penetrance. Chromosome microarray studies did not reveal a pathogenic copy number variation, which could enable identification of a candidate gene.…”
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466
Severe Short Stature in an Adolescent Male with Prader-Willi Syndrome and Congenital Adrenal Hyperplasia: A Therapeutic Conundrum
Published 2017-01-01“…Prader-Willi syndrome (PWS) is a genetic disorder resulting from a defect on chromosome 15 due to paternal deletion, maternal uniparental disomy, or imprinting defect. …”
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467
Genome Sequence of Colistin-Resistant Bacteremic Shewanella algae Carrying the Beta-Lactamase Gene blaOXA-55
Published 2019-01-01“…Here, we report the results of the whole-genome sequencing of colistin-resistant S. algae TYL, a blood isolate. Chromosome-encoded pmrC associated with colistin resistance and blaOXA-55 gene intrinsic to S. algae was identified. …”
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468
Glycated Serum Protein Genetics and Pleiotropy with Cardiometabolic Risk Factors
Published 2019-01-01“…We localized a significant (LOD score=3.18) and novel GSP QTL on chromosome 11q, which has been previously linked to type 2 diabetes. …”
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469
ATX-2, the C. elegans Ortholog of Human Ataxin-2, Regulates Centrosome Size and Microtubule Dynamics.
Published 2016-09-01“…As cells progress to mitosis, centrosomes recruit more microtubules (MT) to form mitotic bipolar spindles that ensure proper chromosome segregation. We report a new role for ATX-2, a C. elegans ortholog of Human Ataxin-2, in regulating centrosome size and MT dynamics. …”
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470
Charcot-Marie-Tooth disease and dilated cardiomyopathy. A rare combination.
Published 2011-07-01“…Approximately 60% of patients who suffer from it carry chromosome 17 duplication, which is why it has been considered very appropriate to convey the experience of this case.…”
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471
Expression of Four Methionine Sulfoxide Reductases in Staphylococcus aureus
Published 2012-01-01“…To determine the expression pattern of msr genes, three independent reporter strains were constructed where msr promoter was cloned in front of a promoterless lacZ and the resulting construct was integrated in the chromosome. Using these strains, it was determined that the msrA1/B expression is significantly higher in S. aureus compared to msrA2 or msrA3. …”
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472
3C-BASED METHODS FOR 3D GENOME ORGANIZATION ANALYSIS
Published 2014-12-01“…The development of chromosome conformation capture (3С) methods allowed studying genome-wide chromosomal contacts by using only molecular methods. …”
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473
Androgen receptor dynamics in prostate cancer: from disease progression to treatment resistance
Published 2025-02-01“…The androgen receptor (AR) on the X chromosome is a central driver in this process, activating genes that govern proliferation and survival. …”
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474
Ensuring the Stability of the Genome: DNA Damage Checkpoints
Published 2001-01-01“…A key component of the DNA damage response is checkpoint signalling, which monitors the state of the genome prior to DNA replication (G1/S) and chromosome segregation (G2/M). Checkpoint signalling in model systems including mice, Xenopus laevis, Drosophila melanogaster, and the yeasts Saccharomyces cerevisiae and Schizosaccharomyces pombe have been useful in elucidating these pathways in mammalian cells. …”
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475
Jacobsen syndrome associated with Shone’s complex: a case report
Published 2025-01-01“…Comments: Jacobsen syndrome occurs due to a deletion of contiguous genes on the long arm of chromosome 11 (11q). The main characteristics associated with this genetic disorder are short stature and delayed neuropsychomotor development, trigonocephaly and craniofacial dysmorphism, hematological alterations, and cardiac malformations, among others. …”
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476
Development of Asymmetric Facial Depigmentation in a Patient Treated with Dasatinib with New-Onset Hypovitaminosis D: Case Report and Review of the Literature
Published 2017-01-01“…Dasatinib is a second-generation tyrosine kinase inhibitor (TKI) used to treat imatinib-resistant chronic myelogenous leukemia (CML), as well as other Philadelphia chromosome-positive lymphoproliferative disorders. While the most commonly reported cutaneous side effects with this therapy include a morbilliform eruption, skin exfoliation, and skin irritation, pigmentary abnormalities have also been observed, albeit much more rarely. …”
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477
Seizure, Deafness, and Renal Failure: A Case of Barakat Syndrome
Published 2013-01-01“…Barakat syndrome (also known as HDR syndrome) is an autosomal dominant disorder characterized by hypoparathyroidism, sensorineural deafness, and renal disease caused by mutation of the GATA3 gene located at chromosome 10p15. The exact prevalence of this disorder is not known but is very rare, with only about a dozen cases reported in the literature. …”
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478
Why women or why not men? sex and autoimmune diseases
Published 2018-01-01“…Several factors have been studied and implied to play a role for such an imbalance, most notably sex chromosomes, sex hormones, and gut microbiota differences between sexes. …”
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479
Early Renal Involvement in a Girl with Classic Fabry Disease
Published 2017-01-01“…Organic involvement in men is well known, but in women it is controversial, mainly due to the random X-chromosome inactivation in each of their cells (Lyon hypothesis). …”
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480
Rare Suprasellar Chordoid Meningioma with INI1 Gene Mutation
Published 2017-09-01“…Background: Chordoid Meningioma is a rare brain tumour characterized genetically by loss of genetic material from chromosome 22q at cytogenetic level resulting in mutation of NF2 gene. …”
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