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581
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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582
Non-autonomous insulin signaling delays mitotic progression in C. elegans germline stem and progenitor cells.
Published 2024-12-01“…How these cells ensure proper chromosome segregation, and thereby maintain mitotic fidelity, in the complex physiological environment of a living animal is poorly understood. …”
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583
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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584
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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585
A rapid change in virulence gene expression during the transition from the intestinal lumen into tissue promotes systemic dissemination of Salmonella.
Published 2010-08-01“…To study the consequences of acquiring a new regulator by horizontal gene transfer, tviA was introduced into the chromosome of S. enterica serotype Typhimurium, a closely related pathogen causing a localized gastrointestinal infection in immunocompetent individuals. …”
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586
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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587
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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588
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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589
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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590
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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591
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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592
Fluo-Cast-Bright: a deep learning pipeline for the non-invasive prediction of chromatin structure and developmental potential in live oocytes
Published 2025-01-01“…Abstract In mammalian oocytes, large-scale chromatin organization regulates transcription, nuclear architecture, and maintenance of chromosome stability in preparation for meiosis onset. …”
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593
The dependence of shugoshin on Bub1-kinase activity is dispensable for the maintenance of spindle assembly checkpoint response in Cryptococcus neoformans.
Published 2025-01-01“…During chromosome segregation, the spindle assembly checkpoint (SAC) detects errors in kinetochore-microtubule attachments. …”
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594
The Role of the NIS (SLC5A5) Gene in Papillary Thyroid Cancer: A Systematic Review
Published 2018-01-01“…Mutations and polymorphisms are two frequent genetic alterations. Located on chromosome 19 (19p13.11), the NIS SLC5A5 (solute carrier family 5 member 5) gene encodes a highly specialized and efficient 80–90 kDa transmembrane glycoprotein that mediates active transport of iodide from the bloodstream into the follicular cells. …”
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595
MIP Models and Hybrid Algorithms for Simultaneous Job Splitting and Scheduling on Unrelated Parallel Machines
Published 2014-01-01“…We proposed simple chromosome structure which is constituted by random key numbers in hybrid genetic-local search algorithm (GAspLA). …”
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596
Recent origin and cultural reversion of a hunter-gatherer group.
Published 2005-03-01“…The Mlabri have no mtDNA diversity, and the genetic diversity at Y-chromosome and autosomal loci are also extraordinarily reduced in the Mlabri. …”
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597
Comparative peculiarities of genomic diversity in <i>Gallus gallus domesticus</i> chickens with decorative plumage: the muffs and beard phenotype
Published 2024-03-01“…If the HOXB8 gene is located between 3.402 and 3.404 Mb on chromosome GGA27, homozygous regions are rarely found in the chickens with the muffs and beard phenotype. …”
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598
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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599
Genomic insights into familial adenomatous polyposis: unraveling a rare case with whole APC gene deletion and intellectual disability
Published 2024-03-01“…Whole-genome array comparative genomic hybridization (aCGH) revealed germline deletions at chromosome 5q22.1-22.2 encompassing the entire APC gene. …”
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600
Asleep surgery for deep brain stimulation of the globus pallidus internus in pediatric dystonia associated with KMT2B mutation
Published 2024-12-01“…Genomic sequencing identified a heterozygous mutation in the KMT2B gene (617284 on chromosome 19p13). In this case, DBS of the globus pallidus internus was performed under general anesthesia. …”
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