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

“…Abstract In mammalian oocytes, large-scale chromatin organization regulates transcription, nuclear architecture, and maintenance of chromosome stability in preparation for meiosis onset. …”
Get full text

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

“…During chromosome segregation, the spindle assembly checkpoint (SAC) detects errors in kinetochore-microtubule attachments. …”
Get full text

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

“…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. …”
Get full text

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

“…We proposed simple chromosome structure which is constituted by random key numbers in hybrid genetic-local search algorithm (GAspLA). …”
Get full text

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

“…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. …”
Get full text

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

“…Whole-genome array comparative genomic hybridization (aCGH) revealed germline deletions at chromosome 5q22.1-22.2 encompassing the entire APC gene. …”
Get full text

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

“…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. …”
Get full text

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

“…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. …”
Get full text

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

“…We describe a 77-year-old male with primary, idiopathic PRCA and a deletion of chromosome 20q, del(20q), in the bone marrow cells. …”
Get full text

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

“…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. …”
Get full text

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

“…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. …”
Get full text

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

“…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. …”
Get full text

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

“…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. …”
Get full text

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

“…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)). …”
Get full text

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

“…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.…”
Get full text

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

“…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. …”
Get full text

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

“…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. …”
Get full text

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

“…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. …”
Get full text

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

“…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. …”
Get full text

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

“…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. …”
Get full text