Microcephalic osteodysplastic primordial dwarfism type II in four Indian children with PCNT variants by Amit Singh, Mahak Garg, Mohammed Shariq, Preeti Khetarpal, Inusha Panigrahi

“…Abstract Background Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPD II) is an autosomal recessive rare genetic condition marked by characteristic clinical symptoms of prenatal and post-natal growth retardation, reduced height, and microcephaly caused by variations in PCNT gene located on chromosome 21q22. Case presentation Four patients of Indian origin with growth deficiency and additional clinical features of MOPDII were recruited from a tertiary health care center and whole exome sequencing was performed on blood samples from these patients. …”
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Recent Advances in the Pathogenesis of Syndromic Autisms by A. Benvenuto, B. Manzi, R. Alessandrelli, C. Galasso, P. Curatolo

“…The PubMed database was searched with the keywords “autism” and “chromosomal abnormalities,” “metabolic diseases,” “susceptibility loci.” …”
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Reorganisation of chromatin during erythroid differentiation by A. A. Khabarova, A. S. Ryzhkova, N. R. Battulin

“…Several levels of DNA packaging have been recently identified using chromosome conformation capture based techniques such a Hi-C. …”
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Restoration of Genetic Code in Macular Mouse Fibroblasts via APOBEC1-Mediated RNA Editing by Sonali Bhakta, Hiroko Kodama, Masakazu Mimaki, Toshifumi Tsukahara

“…Menkes disease is a recessive X-chromosome-linked hereditary syndrome in humans, caused by defective copper metabolism due to mutations in the <i>ATP7A</i> gene, which encodes a copper transport protein. …”
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A lethal disease of the European bison – posthitis is conditionally determined by its genomics by Sazia Kunvar, Sylwia Czarnomska, Cino Pertoldi, Astrid V. Stronen, Iwona Ruczyńska, Małgorzata Tokarska

“…We obtained 30 SNP markers that met these requirements, all located on chromosome 25. However, none of the SNPs found in the study was significantly associated with posthitis occurrence after Bonferroni correction. …”
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Elevated levels of neutrophils with a pro-inflammatory profile in Turner syndrome across karyotypes by Jesper Just, Lukas Ochsner Reynaud Ridder, Emma Bruun Johannsen, Jens Magnus Bernth Jensen, Mikkel Steen Petersen, Helene Viborg Christensen, Kenneth Kjærgaard, Jacob Redder, Simon Chang, Kirstine Stochholm, Anne Skakkebæk, Claus Højbjerg Gravholt

“…All TS individuals lacked the X chromosome p-arm, and XIST expression from the q-arm did not affect the autosomal transcriptome or methylome, highlighting the critical role of the missing p-arm with its pseudoautosomal region 1. …”
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Acute Myelogenous Leukemia with the t(7;7)(p15;p22) Translocation, a Novel Simple Variant of t(7;11)(p15;p15) Translocation: First Description by Motoharu Shibusawa

“…The t(7;7)(p15;p22) translocation involved chromosome 7p15, indicating its association with the homeobox genes. …”
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Genetic control of traits determining phosphorus uptake by rice varieties (Oryza sativa L.) by J. K. Goncharova, E. M. Kharitonov

“…The maximum number of alleles is noted for the RM 247 marker, located on chromosome 12.…”
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DICER1: The Argonaute Endonuclease Family Member and Its Role in Pediatric and Youth Pathology by Consolato M. Sergi, Fabrizio Minervini

“…It is a gene, which has been positioned on chromosome 14q32.13. It contains 27 exons, which are linking the two enzyme domains. …”
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Identification of Differentially Expressed Genes in COVID-19 and Integrated Bioinformatics Analysis of Signaling Pathways by Linjie Fang, Tingyu Tang, Mengqi Hu

“…Then, based on GSEA, the enrichment of the gene set in the sample was analyzed in the GO terms, and the gene set was enriched in the positive regulation of myeloid leukocyte cytokine production involved in immune response, programmed necrotic cell death, translesion synthesis, necroptotic process, and condensed nuclear chromosome. Finally, with the help of STRING tools, the PPI (protein-protein interaction) network diagrams of DEGs were constructed. …”
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Hybrid breeding boosted molecular genetics in rye by R. Schlegel

“…Rye has also long been used as cytological subject due to its low number of chromosomes and their size. However, genetic findings in rye up to the early 1980s were rather scant. …”
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Genome-Wide Association Study of Medication Adherence in Chronic Diseases in the Korean Population by Incheol Seo, Seong-Il Suh, Min-Ho Suh, Won-Ki Baek

“…The most significant single nucleotide polymorphism was rs6978712 (chromosome 7, p = 4.87 × 10-7), which is located proximal to the GCC1 gene, which was previously implicated in decision-making capability in drug abusers. …”
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Complete Genome Sequencing of Polar Arthrobacter sp. PAMC25284, Copper Tolerance Potential Unraveled with Genomic Analysis by Jayram Karmacharya, Prasansah Shrestha, So-Ra Han, Hyun Park, Tae-Jin Oh

“…The strain PAMC25284 genome consists of a circular chromosome with a GC content of 65.6% and is projected to contain 3,588 genes, of which 3,150 are protein coding, 366 are pseudogenes, 19 are rRNA coding, and 50 are tRNA coding genes. …”
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Comprehensive RNA-seq analysis of benign prostatic hyperplasia (BPH) in rats exposed to testosterone and estradiol by Xiao-Hu Tang, Zhi-Yan Liu, Jing-Wen Ren, Heng Zhang, Ye Tian, Jian-Xin Hu, Zhao-Lin Sun, Guang-Heng Luo

“…The DEGs were mainly involved in mitotic nuclear division, nuclear chromosome segregation, and cytokine cell receptor interactions. …”
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Synaptic Plasticity, a Prominent Contributor to the Anxiety in Fragile X Syndrome by Tao Yang, Huan Zhao, Changbo Lu, Xiaoyu Li, Yingli Xie, Hao Fu, Hui Xu

“…Fragile X syndrome (FXS) is an inheritable neuropsychological disease caused by expansion of the CGG trinucleotide repeat affecting the fmr1 gene on X chromosome, resulting in silence of the fmr1 gene and failed expression of FMRP. …”
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Antibiotic resistance gene occurrence in poultry farms in northeast Brazil by Henrique Francisco de Almeida, Paulo Ricardo Conceição Marques Trindade, César Roberto Viana Teixeira, Claudson Oliveira Brito, Silvio Santana Dolabella, Sona Jain, Maíra Pompeu Martins, Ana Andréa Barbosa

“…Furthermore, similarity was observed for resistance determinants located both on the chromosome and on plasmids, transposons, and integrons. …”
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The WRKY Transcription Factor Genes in Lotus japonicus by Hui Song, Pengfei Wang, Zhibiao Nan, Xingjun Wang

“…Investigations of gene copy number and gene clusters indicate that only one gene duplication event occurred on chromosome 4 and no clustered genes were detected on chromosomes 3 or 6. …”
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Identification of Signal Pathways and Hub Genes of Pulmonary Arterial Hypertension by Bioinformatic Analysis by Rui-Qi Wei, Wen-Mei Zhang, Zhe Liang, Chunmei Piao, Guangfa Zhu

“…GO enrichment analysis showed that these DEGs were mainly enriched in mitotic nuclear division, organelle fission, chromosome segregation, nuclear division, and sister chromatid segregation. …”
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Clinical Report of a 17q12 Microdeletion with Additionally Unreported Clinical Features by Jennifer L. Roberts, Stephanie K. Gandomi, Melissa Parra, Ira Lu, Chia-Ling Gau, Majed Dasouki, Merlin G. Butler

“…Subsequently, a 400 K array-based comparative genomic hybridization (aCGH) + SNP analysis was performed which identified a de novo suspected pathogenic deletion on chromosome 17q12 encompassing 28 genes. Despite the limited number of cases described in the literature with 17q12 rearrangements, our proband’s phenotypic features both overlap and expand on previously reported cases. …”
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Unveiling the role of SYNGR4 in breast cancer development: a novel target for immunotherapy by Jie Ma, Hongtao Wang, Zhengwei Gui, Yuanrong Yang

“…This may be a volatile effect through Organelle fission, chromosome segregation, nuclear division, etc. SYNGR4 overexpression affects breast cancer proliferation, migration, and tumor immune infiltration, and promotes breast cancer tumor-associated macrophage polarization toward M2.DiscussionSYNGR4 overexpression can affect the prognosis of breast cancer patients by promoting M2 polarization of tumor-associated macrophages in breast cancer, and this molecule may be a novel target for breast cancer immunotherapy.…”
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