CYTOLOGICAL AND GENETIC CHARACTERIZATION OF A NEW MUTANT OF VEGETABLE PEPPER CAPSICUM ANNUUM VAR. ANNUUM L. by O. Yu. Timin, O. O. Timina, P. Yu. Montvid, A. P. Samovol

“…It is characterized by a specific spectrum and frequency of chiasmata and chromosomal aberrations. It depends on the gene dose. …”
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Bilateral choroid plexus resection in a 9p hexasomy/tetrasomy mosaic patient by Rei Takada, Takenori Tozawa, Takumi Yamanaka, Masaharu Moroto, Tomoko Iehara, Tomohiro Chiyonobu

“…Abstract Previous reports have shown that a gain of the chromosome 9 short arm (9p) is associated with choroid plexus hyperplasia (CPH). …”
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Four Cases of Myeloproliferative Disorders Associated With Down Syndrome: Distinguishing ML-DS From TAM-DS by Kévin Boumeghar, Sylvie Daliphard, Nimrod Buchbinder, Catherine Boutet, Dominique Penther, Pascaline Etancelin, Julien Bourgain, Gérard Buchonnet, Elsa Bera, Victor Bobée

“…Down syndrome (DS) is defined by an extra copy of chromosome 21 and confers an increased susceptibility to hematological disorders. …”
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The Caryotipe of Endemic Ornamental Fish Celebes Rainbow (Telmatherina ladigesi) from Maros River, South Sulawesi by I. Andriani, N. Sugiri, Odang Carman, D.S. Sjafei

“…These chromosomes were divided into 13 pairs big chromosomes (>1 urn) and 11 pairs small chromosomes (I u,m) dan 11 pasang kromosom kecil (…”
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Fast and accurate deep learning scans for signatures of natural selection in genomes using FASTER-NN by Sjoerd van den Belt, Nikolaos Alachiotis

“…As a result, execution time is invariant to the sample size and the chromosome length, creating a highly suitable solution for large-scale, whole-genome scans. …”
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Role of ARMS2/HTRA1 risk alleles in the pathogenesis of neovascular age-related macular degeneration by Yang Pan, Takeshi Iwata

“…Genome-wide association studies (GWAS) have strongly supported the link between ARMS2/HTRA1 locus on chromosome 10q26 and AMD development, encompassing multiple variants, rs10490924 (c.205G > T, p.A69S in ARMS2), insertion/deletion (del443/ins54 in ARMS2), and rs11200638 (in HTRA1 promoter region). …”
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4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay by Yukino Kawanami, Tomoko Horinouchi, Naoya Morisada, Takeshi Kato, Kandai Nozu

“…We encountered a case with congenital iris coloboma, omphalocele, and developmental delay with a 2.5 Mb deletion on chromosome 4q25 encompassing PITX2, leading to Axenfeld-Rieger syndrome (ARS), NEUROG2, and ANK2. …”
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Developmental Defects in Trisomy 21 and Mouse Models by Jean Maurice Delabar, Revital Aflalo-Rattenbac, Nicole Créau

“…Murine models are clearly the best tool for dissecting the phenotypic consequences of imbalances that affect single genes or chromosome segments. Embryos can be studied freely in mice, making murine models particularly useful for the characterization of developmental abnormalities. …”
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Unusual Presentation of Pelizaeus-Merzbacher Disease: Female Patient with Deletion of the Proteolipid Protein 1 Gene by Teva Brender, Donna Wallerstein, John Sum, Robert Wallerstein

“…In addition to this, our patient has skewed X chromosome inactivation which adds to her presentation as her unaffected mother also carries the mutation.…”
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Identification of a New Variant in NLRP3 Gene by Whole Exome Sequencing in a Patient with Cryopyrin-Associated Periodic Syndrome by Mahdieh Vahedi, Nima Parvaneh, Saeedeh Vahedi, Mohammad Shahrooei, Vahid Ziaee

“…NLRP3 gene is located in chromosome 1 and encodes a pyrin-like protein. Mutations in this gene are associated with an autoinflammatory disease, called cryopyrin-associated periodic syndrome (CAPS). …”
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Novel Phenotype in Unbalanced 7;9 Translocation with Critical Incidental Finding by Julie Fischer, Luis Rohena

“…This case discusses a now 13-year-old boy who underwent chromosome analysis and fluorescence in situ hybridization (FISH) for subtelomeric rearrangements due to dysmorphic features at birth. …”
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The Genetics of PTPN1 and Obesity: Insights from Mouse Models of Tissue-Specific PTP1B Deficiency by Ryan C. Tsou, Kendra K. Bence

“…The PTP1B protein is encoded by the PTPN1 gene on human chromosome 20q13, a region that shows linkage with insulin resistance, type 2 diabetes, and obesity in human populations. …”
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The high-density lipoprotein binding protein HDLBP is an unusual RNA-binding protein with multiple roles in cancer and disease by Jonathan Feicht, Ralf-Peter Jansen

“…HDLBP is involved in various processes, including translation, chromosome segregation, cholesterol transport and carcinogenesis. …”
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Molecular Characterization of a Multidrug-Resistant Klebsiella pneumoniae Strain R46 Isolated from a Rabbit by Fei Wu, Yuanyuan Ying, Min Yin, Yi Jiang, Chongyang Wu, Changrui Qian, Qianqian Chen, Kai Shen, Cong Cheng, Licheng Zhu, Kewei Li, Teng Xu, Qiyu Bao, Junwan Lu

“…The K. pneumoniae R46 genome consisted of a chromosome and three resistance plasmids named pR46-27, pR46-42, and pR46-270, respectively. …”
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Molecular, Cytogenetic, and Hematological Analysis of Chronic Myeloid Leukemia Patients and Discovery of Two Novel Translocations by Muhammad Asif, Abrar Hussain, Abdul Wali, Nazeer Ahmed, Irfan Ali, Zafar Iqbal, Muhammad Amir, Muhammad Shafiq, Mahmood Rasool

“…Chronic myeloid leukemia (CML) is a disease of hematopoietic stem cells and is caused by the balanced translocations among the long arms of chromosomes 9 and 22, which are called the Philadelphia (Ph) chromosome. …”
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Characterization of the genomic landscape of canine diffuse large B-cell lymphoma reveals recurrent H3K27M mutations linked to progression-free survival by Anna Darlene van der Heiden, Raphaela Pensch, Sophie Agger, Heather L. Gardner, William Hendricks, Victoria Zismann, Shukmei Wong, Natalia Briones, Bryce Turner, Karin Forsberg-Nilsson, Cheryl London, Kerstin Lindblad-Toh, Maja Louise Arendt

“…The most prominent copy number gain occurred on chromosome 13, overlapping key oncogenes such as MYC and KIT, while the most frequent deletion was a focal loss on chromosome 26, encompassing IGL, PRAME, GNAZ, RAB36, RSPH14, and ZNF280B. …”
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Exploratory analysis of molecular traits of the mitochondrial DNA of leafcutting ants to infer taxonomic characters towards an integrative taxonomy by Perpetua Ndubuisi Onyinyechi, Natália Martins Travenzoli, Maykon Passos Cristiano, Danon Clemes Cardoso

“…The molecular features of the mitogenome segments, along with other traits such as chromosome number, karyotype features, molecular phylogeny, and morphological data can be used in an integrative framework to access biodiversity and purpose taxonomic hypothesis.…”
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Joint optimization of dispersion matrix and 3D constellation for STSK system based on improved genetic algorithm by Xiaoping JIN, Jiayu LIU, Chen JIANG, Qiang GUO

“…Space-time shift keying (STSK) is a modulation scheme used in multi-input multi-output (MIMO) communication systems.It uses a pre-designed dispersion matrix set (DMS) to realize the flexible design of the system between multiplexing and diversity.An improved genetic algorithm (GA) was proposed to assist the joint optimization of DMS and 3D constellations, that is, the DMS and 3D constellations were jointly coded as the chromosome of GA , and the coding gain corresponding to the rank and determinant criterion was adopted as the overall fitness value.Through efficient selection and improved mutation and crossover strategies, DMS and 3D constellations with low bit error rate (BER) can be obtained.At the same time, the symmetry of the 3D constellation was used to greatly reduce the computational complexity of according to the fitness value the coding gain.The theoretical average paired error probability (ABEP) of the 3D STSK scheme was deducted.The simulation results show that, compared with the traditional GA and random search schemes, the improved GA proposed can significantly reduce the complexity of system implementation while ensuring BER performance.…”
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Giant Warty Nevus with Cavernous Angioma Component. Case Presentation by María del Rosario Sánchez Hidalgo, Idalmis Valdés Madrigal, Eduardo Carlos Borges Sánchez

“…It is considered a hamartoma derived from the ectoderm, possibly caused by a chromosomal aberration located on the long arm of chromosome 1.The case of a 3 year-old male patient is presented, with a giant warty nevus with an angioma cavernous component in the occipital region, without other anomalies. …”
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Adropin: a key player in immune cell homeostasis and regulation of inflammation in several diseases by Junmin Wang, Ning Ding, Chong Chen, Simin Gu, Jing Liu, Yanping Wang, Liubing Lin, Yiyuan Zheng, Yong Li

“…Adropin is a secreted peptide encoded by the energy homeostasis-associated gene (ENHO), located chromosome 9p13.3, with a conserved amino acid sequence across humans and mice. …”
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