Showing 481 - 500 results of 1,174 for search '"chromosome"', query time: 0.05s Refine Results
  1. 481

    Fluo-Cast-Bright: a deep learning pipeline for the non-invasive prediction of chromatin structure and developmental potential in live oocytes by Xiangyu Zhang, Claudia Baumann, Rabindranath De La Fuente

    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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  2. 482

    The dependence of shugoshin on Bub1-kinase activity is dispensable for the maintenance of spindle assembly checkpoint response in Cryptococcus neoformans. by Satya Dev Polisetty, Krishna Bhat, Kuladeep Das, Ivan Clark, Kevin G Hardwick, Kaustuv Sanyal

    Published 2025-01-01
    “…During chromosome segregation, the spindle assembly checkpoint (SAC) detects errors in kinetochore-microtubule attachments. …”
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  3. 483

    The Role of the NIS (SLC5A5) Gene in Papillary Thyroid Cancer: A Systematic Review by Rafael Martins de Morais, Alaor Barra Sobrinho, Calliandra Maria de Souza Silva, Jamila Reis de Oliveira, Izabel Cristina Rodrigues da Silva, Otávio de Toledo Nóbrega

    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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  4. 484

    MIP Models and Hybrid Algorithms for Simultaneous Job Splitting and Scheduling on Unrelated Parallel Machines by Duygu Yilmaz Eroglu, H. Cenk Ozmutlu

    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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  5. 485

    Comparative peculiarities of genomic diversity in <i>Gallus gallus domesticus</i> chickens with decorative plumage: the muffs and beard phenotype by N. V. Dementieva, Y. S. Shcherbakov, A. E. Ryabova, A. B. Vakhrameev, A. V. Makarova, O. A. Nikolaeva, A. P. Dysin, A. I. Azovtseva, N. R. Reinbah, O. V. Mitrofanova

    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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  6. 486

    Genomic insights into familial adenomatous polyposis: unraveling a rare case with whole APC gene deletion and intellectual disability by Hiroki Tanabe, Masami Ijiri, Kenji Takahashi, Honoka Sasagawa, Tomomi Kamanaka, Shohei Kuroda, Hiroki Sato, Takeo Sarashina, Yusuke Mizukami, Yoshio Makita, Toshikatsu Okumura

    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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    Article
  7. 487

    Diamond Blackfan Anemia at the Crossroad between Ribosome Biogenesis and Heme Metabolism by Deborah Chiabrando, Emanuela Tolosano

    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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  8. 488

    Genome-Wide Association Study of Coronary Artery Disease by Naomi Ogawa, Yasushi Imai, Hiroyuki Morita, Ryozo Nagai

    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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    Article
  9. 489

    Pure Red Cell Aplasia with Del(20q) Sensitive for Immunosuppressive Treatment by Anh Khoi Vo, Hilde Kollsete Gjelberg, Randi Hovland, Marte Karen Lindstad Brattås, Øystein Bruserud, Håkon Reikvam

    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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  10. 490

    A Pleural Solitary Fibrous Tumor, Multiple Gastrointestinal Stromal Tumors, Moyamoya Disease, and Hyperparathyroidism in a Patient Associated with NF1 by Yoko Yamamoto, Ken Kodama, Shigekazu Yokoyama, Masashi Takeda, Shintaro Michishita

    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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  11. 491

    A Girl with PRRT2 Mutation Presenting with Benign Familial Infantile Seizures Followed by Autistic Regression by Li Zhang, Zhen-Xia Wan, Jin-Yi Zhu, Hui-Juan Liu, Jin Sun, Xiao-Hui Zou, Ting Zhang, Yan Li

    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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  12. 492

    A Case Series on Cardiac and Skeletal Involvement in Two Families with PRKAG2 Mutations by Anita Sri, Piers Daubeney, Sanjay Prasad, John Baksi, Maria Kinali, Inga Voges

    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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  13. 493

    Histone Deacetylases Inhibitors in the Treatment of Retinal Degenerative Diseases: Overview and Perspectives by Hua Zhang, Xufeng Dai, Yan Qi, Ying He, Wei Du, Ji-jing Pang

    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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  14. 494

    Disseminated Exfoliative Dermatitis Associated with All-Transretinoic Acid in the Treatment of Acute Promyelocytic Leukemia by Yonal Ipek, Dogru Hulya, Aktan Melih

    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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  15. 495

    Simultaneous Bilateral Spontaneous Pneumothorax Revealed Birt-Hogg-Dubè Syndrome by Alessandro Tamburrini, Francesco Sellitri, Federico Tacconi, Francesco Brancati, Tommaso Claudio Mineo

    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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  16. 496

    Minisatellite Isolation and Minisatellite Molecular Marker Development in <i>Citrus limon</i> (L.) Osbeck by Oleg S. Alexandrov, Dmitry V. Romanov

    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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  17. 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... by Qi Zhang, Adjei Courage Kwabla, Yanhui Zhuang, Mingjun Ling, Yuguang Wei, Hao Yang

    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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  18. 498

    Papillion-Lefèvre Syndrome: Periodontists’ Perspective by Sunil Kumar Biraggari, K. Krishna Mohana Reddy, J. Sudhakar, Shiva Shankar Bugude, Rajesh Nichenametla, Mazher Ahmed Hakeem, Swati Reddy Tiyyagura

    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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  19. 499

    Hereditary Neuropathy with Liability to Pressure Palsy Presenting with Hand Drop in a Young Child by Inês Sobreira, Cátia Sousa, Ana Raposo, M. Rita Soares, Ana Soudo, Ana Isabel Dias

    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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  20. 500

    An Integrated Metaheuristic Routing Method for Multiple-Block Warehouses with Ultranarrow Aisles and Access Restriction by Fangyu Chen, Gangyan Xu, Yongchang Wei

    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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