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481
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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482
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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483
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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484
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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485
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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486
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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487
Diamond Blackfan Anemia at the Crossroad between Ribosome Biogenesis and Heme Metabolism
Published 2010-01-01“…Interestingly, some DBA patients have disease linkage to chromosome 1q31, where FLVCR1 is mapped. Moreover, it has been reported that cells from DBA patients express alternatively spliced isoforms of FLVCR1 which encode non-functional proteins. …”
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488
Genome-Wide Association Study of Coronary Artery Disease
Published 2010-01-01“…In 2007, three chip-based GWAS simultaneously revealed the significant association between common variants on chromosome 9p21 and CAD. This association was replicated among other ethnic groups and also in a meta-analysis. …”
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489
Pure Red Cell Aplasia with Del(20q) Sensitive for Immunosuppressive Treatment
Published 2020-01-01“…We describe a 77-year-old male with primary, idiopathic PRCA and a deletion of chromosome 20q, del(20q), in the bone marrow cells. …”
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490
A Pleural Solitary Fibrous Tumor, Multiple Gastrointestinal Stromal Tumors, Moyamoya Disease, and Hyperparathyroidism in a Patient Associated with NF1
Published 2015-01-01“…Neurofibromatosis type 1 (NF1), also called von Recklinghausen’s disease, is a multisystemic disease caused by an alteration of the NF1 gene, a tumor suppressor located on the long arm of chromosome 17 (17q11.2). Loss of the gene function, due to a point mutation, leads to an increase in cell proliferation and the development of several tumors. …”
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491
A Girl with PRRT2 Mutation Presenting with Benign Familial Infantile Seizures Followed by Autistic Regression
Published 2024-01-01“…It is commonly associated with heterozygous mutations of the PRRT2 gene located on chromosome 16p11.2. The frameshift heterozygous mutation (c.649dupC, p.Arg217Profs∗8) in PRRT2 is responsible for the majority of BFIS cases. …”
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492
A Case Series on Cardiac and Skeletal Involvement in Two Families with PRKAG2 Mutations
Published 2019-01-01“…We describe the clinical and investigative findings in two families with a PRKAG2 mutation from the different variants in the gene on chromosome 7q36.1, emphasising that the variability of phenotypes and that presentation in childhood is common. …”
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493
Histone Deacetylases Inhibitors in the Treatment of Retinal Degenerative Diseases: Overview and Perspectives
Published 2015-01-01“…Histone acetylation and deacetylation can regulate chromosome assembly, gene transcription, and posttranslational modification, which are regulated by histone acetyltransferases (HATs) and histone deacetylases (HDACs), respectively. …”
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494
Disseminated Exfoliative Dermatitis Associated with All-Transretinoic Acid in the Treatment of Acute Promyelocytic Leukemia
Published 2012-01-01“…Acute promyelocytic leukemia (APL) is a biologically and clinically separate type of acute myeloid leukemia characterized by a translocation involving the retinoic acid receptor-alpha (RARa) locus on chromosome 17, the great majority of which is t(15; 17)(q24.1; q21.1) (Collins (1998), Melnick and Licht (1999), and Grimwade (1999)). …”
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495
Simultaneous Bilateral Spontaneous Pneumothorax Revealed Birt-Hogg-Dubè Syndrome
Published 2015-01-01“…In this case, we firstly report the concurrence of these rare conditions, as a patient presenting a simultaneous bilateral spontaneous pneumothorax was diagnosed with Birt-Hogg-Dubè syndrome based on the typical radiological findings and genetic testing of the folliculin gene located on chromosome 17.…”
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496
Minisatellite Isolation and Minisatellite Molecular Marker Development in <i>Citrus limon</i> (L.) Osbeck
Published 2024-12-01“…The obtained dataset includes sequences of extracted minisatellites and their characteristics (start and end nucleotide positions on the chromosome, length of monomer, number of repetitions and length of array), as well as sequences of developed primers, expected lengths of amplicons, and e-PCR results. …”
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497
Research on Loading and Unloading Resource Scheduling and Optimization of Rail–Road Transportation in Container Terminal Based on “Internet +” —for Ghana Container Port Development...
Published 2020-01-01“…In order to solve the model, a multi-layer coding genetic algorithm with chromosome feasibility is designed to obtain the optimal scheduled time for the truck, and the optimal operation sequence of the gantry crane. …”
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498
Papillion-Lefèvre Syndrome: Periodontists’ Perspective
Published 2015-01-01“…Genetic studies have identified a mutation in the major gene locus of chromosome 11q14 with loss of function. Cathepsin C gene is to be responsible for Papillion-Lefèvre Syndrome. …”
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499
Hereditary Neuropathy with Liability to Pressure Palsy Presenting with Hand Drop in a Young Child
Published 2012-01-01“…Hereditary neuropathy with liability to pressure palsy (HNPP) results from the deletion of the PMP22 gene in chromosome 17p11.2. Clinically, it presents with painless pressure palsies, typically in the 2nd and 3rd decades of life, being a rare entity in childhood. …”
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500
An Integrated Metaheuristic Routing Method for Multiple-Block Warehouses with Ultranarrow Aisles and Access Restriction
Published 2019-01-01“…The ant colony optimization is mainly responsible for generating the initial chromosomes for the genetic algorithm, which then searches the near-optimal solutions of picker-routing with our novel chromosome design by recording the detailed information of access modes and subaisles. …”
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