Desmoplastic Small Round Cell Tumor of Stomach by Ahmed Abu-Zaid, Ayman Azzam, Asma AlNajjar, Hussa Al-Hussaini, Tarek Amin

“…The characteristic chromosomal translocation (t(11; 22)(p13; q12)) was demonstrated on fluorescence in situ hybridization (FISH) technique. …”
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408 Cases of Genital Ambiguity Followed by Single Multidisciplinary Team during 23 Years: Etiologic Diagnosis and Sex of Rearing by Georgette Beatriz De Paula, Beatriz Amstalden Barros, Stela Carpini, Bruna Jordan Tincani, Tais Nitsch Mazzola, Mara Sanches Guaragna, Cristiane Santos da Cruz Piveta, Laurione Candido de Oliveira, Juliana Gabriel Ribeiro Andrade, Guilherme Guaragna-Filho, Pedro Perez Barbieri, Nathalia Montibeler Ferreira, Marcio Lopes Miranda, Ezequiel Moreira Gonçalves, Andre Moreno Morcillo, Nilma Lucia Viguetti-Campos, Sofia Helena Valente Lemos-Marini, Roberto Benedito de Paiva Silva, Antonia Paula Marques-de-Faria, Maricilda Palandi De Mello, Andrea Trevas Maciel-Guerra, Gil Guerra-Junior

“…There were 408 cases; 250 (61.3%) were 46,XY and 124 (30.4%) 46,XX and 34 (8.3%) had sex chromosomes abnormalities. 189 (46.3%) had 46,XY testicular DSD, 105 (25.7%) 46,XX ovarian DSD, 95 (23.3%) disorders of gonadal development (DGD), and 19 (4.7%) complex malformations. …”
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Context effects on repair of 5′‐overhang DNA double‐strand breaks induced by Cas12a in Arabidopsis by Sébastien Lageix, Miguel Hernandez, Maria E. Gallego, Jérémy Verbeke, Yannick Bidet, Sandrine Viala, Charles I. White

“…We present here an analysis of recombination at targeted chromosomal 5′ overhang DSB generated by the FnCas12a endonuclease in the plant, Arabidopsis thaliana. …”
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HMGB1 Acts in Synergy with Lipopolysaccharide in Activating Rheumatoid Synovial Fibroblasts via p38 MAPK and NF-κB Signaling Pathways by Zheng-Wen He, Yang-Hua Qin, Zhi-Wei Wang, Yan Chen, Qian Shen, Sheng-Ming Dai

“…High-mobility group box chromosomal protein 1 (HMGB1) or lipopolysaccharide (LPS) alone failed to induce significant changes in proliferation of cultured SF from RA patients, but premixed HMGB1 with LPS (HMGB1-LPS) significantly facilitated SF proliferation. …”
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Genome-Wide Identification and Analysis of the Cytochrome B5 Protein Family in Chinese Cabbage (Brassica rapa L. ssp. Pekinensis) by Han Zheng, Xin Li, Lin Shi, Ying Jing, Qingqing Song, Yanan Chen, Lilong He, Fengde Wang, Jianwei Gao, Yuping Bi

“…It was identified that fifteen BrCB5s were distributed on different chromosomes, which were classified into seven groups (A-G) according to its phylogenetic relationship. …”
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DNMT3A Mutations in Patients with Acute Myeloid Leukemia in South Brazil by Annelise Pezzi, Lauro Moraes, Vanessa Valim, Bruna Amorin, Gabriela Melchiades, Fernanda Oliveira, Maria Aparecida da Silva, Ursula Matte, Maria S. Pombo-de-Oliveira, Rosane Bittencourt, Liane Daudt, Lúcia Silla

“…Our aims were to determine the frequency of somatic mutations in the gene DNMT3A and major chromosomal translocations in a sample of patients with AML. …”
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RECQL4 requires PARP1 for recruitment to DNA damage, and PARG dePARylation facilitates its associated role in end joining by Mansoor Hussain, Prabhat Khadka, Komal Pekhale, Tomasz Kulikowicz, Samuel Gray, Alfred May, Deborah L. Croteau, Vilhelm A. Bohr

“…Inhibition or depletion of PARP1 significantly diminished RECQL4 recruitment and occupancy at specific DSB sites on chromosomes. After DNA damage, PARG dePARylated RECQL4 and stimulated its end-joining activity. …”
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Metabolomic profiles of preterm small-for-gestational age infants by Koh Okuda, Nobuhiko Nagano, Kimitaka Nakazaki, Kengo Matsuda, Wataru Tokunaga, Kazumasa Fuwa, Ryoji Aoki, Aya Okahashi, Ichiro Morioka

“…We conducted a gestational age (GA)-matched case-control study that included 30 preterm infants who were categorized into two groups: SGA infants, with a birth weight (BW) < 10th percentile for GA (n = 15) and non-SGA infants, with BW ≥ 10th percentile for GA (n = 15). SGA infants with chromosomal or genetic abnormalities were excluded. …”
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Genetic coupling of enhancer activity and connectivity in gene expression control by Helen Ray-Jones, Chak Kei Sung, Lai Ting Chan, Alexander Haglund, Pavel Artemov, Monica Della Rosa, Luminita Ruje, Frances Burden, Roman Kreuzhuber, Anna Litovskikh, Eline Weyenbergh, Zoï Brusselaers, Vanessa Xue Hui Tan, Mattia Frontini, Chris Wallace, Valeriya Malysheva, Leonardo Bottolo, Elena Vigorito, Mikhail Spivakov

“…Abstract Gene enhancers often form long-range contacts with promoters, but it remains unclear if the activity of enhancers and their chromosomal contacts are mediated by the same DNA sequences and recruited factors. …”
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Performing whole-genome association analysis of winter wheat plant height using the 55K chip by Yindeng Ding, Guiqiang Fan, Yonghong Gao, Tianrong Huang, Anding Zhou, Shan Yu, Lianjia Zhao, Xiaolei Shi, Sunlei Ding, Jiahao Hao, Wei Wang, Jikun Song, Na Sun, Hui Fang

“…GWAS identified 44 SNP markers significantly associated with wheat plant height across various environments (P ≤ 0.00001), predominantly distributed on chromosomes 1B, 1D, 2A, 2B, 2D, 3B, 3D, 4A, 4B, 6B, 6D, and 7D, explaining individual phenotypic variance rates ranging from 5.00% to 11.11%. …”
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Clinical relevance and druggability of sole reciprocal kinase fusions: A large‐scale study by Jiao Feng, Tonghui Ma, Chunyang Wang, Baoming Wang, Qian Liu, Zhengchuang Liu, Houquan Tao, Zaiyuan Ye

“…Comparative analysis with an MSKCC cohort confirmed the prevalence in diverse cancer types and identified unique fusion partners and chromosomal locales. Cross‐validation through RNA‐NGS and FISH authenticated the existence of functional kinase domains in subsets including ALK, ROS1, RET, and BRAF, which correlated with positive clinical responses to targeted kinase inhibitors (KIs). …”
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Comprehensive genome-wide analysis of ARF transcription factors in orchardgrass (Dactylis glomerata): the positive regulatory role of DgARF7 in drought resistance by Miaoli Wang, Wen Liu, Guangyan Feng, Gang Nie, Zhongfu Yang, Feixiang Hao, Linkai Huang, Xinquan Zhang

“…These DgARFs were unevenly distributed across the seven orchardgrass chromosomes and clustered into four classes. Phylogenetic analysis with multispecies of ARF proteins indicated that the ARFs exhibit a relatively conserved evolutionary path. …”
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46,XY Disorder of Sex Development Caused by 17α-Hydroxylase/17,20-Lyase Deficiency due to Homozygous Mutation of CYP17A1 Gene: Consequences of Late Diagnosis by Giampaolo Papi, Rosa Maria Paragliola, Paola Concolino, Carlo Di Donato, Alfredo Pontecorvi, Salvatore Maria Corsello

“…Furthermore, diffuse osteopenia and osteoporosis and incomplete ossification of the growth plate cartilages were demonstrated. Chromosomal analysis showed a normal male 46,XY, karyotype, and on molecular analysis of the CYP17A1 gene she resulted homozygous for the g.4869T>A; g.4871delC (p.Y329Kfs?) …”
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Epigenetic Alterations and an Increased Frequency of Micronuclei in Women with Fibromyalgia by Victoria Menzies, Debra E. Lyon, Kellie J. Archer, Qing Zhou, Jenni Brumelle, Kimberly H. Jones, G. Gao, Timothy P. York, Colleen Jackson-Cook

“…Results support the need for future research to further examine the potential role of epigenetic and acquired chromosomal alterations as a possible biological mechanism underlying FM.…”
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Plant diversity and transcriptional variability assessed by retrotransposon-based molecular markers by R. N. Kalendar, K. S. Aizharkyn, O. N. Khapilina, A. A. Amenov, D. S. Tagimanova

“…Various molecular marker systems have been developed that exploit the ubiquitous nature of these genetic elements and their property of stable integration into dispersed chromosomal loci that are polymorphic within species. …”
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How to Manage Low Estriol Levels in Pregnancies, One Center Experience by Elif YILMAZ GULEC, Alper GEZDIRICI, Akif AYAZ, Fatma Nihal OZTURK, Ibrahim POLAT

“…Although one fetal death was recorded, no chromosomal abnormality, SLOS, or congenital malformation was recorded in our series. …”
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The plastid and mitochondrial genomes of <i>Vavilovia Formosa</i> (Stev.) Fed. and the phylogeny of related legume genera by N. V. Shatskaya, V. S. Bogdanova, O. E. Kosterin, G. V. Vasiliev, A. K. Kimeklis, E. E. Andronov, N. A. Provorov

“…The organellar genomes were circular DNA molecules; the genome of mitochondria was represented by two circular chromosomes. A phylogenetic analysis on the basis of plastid genomes available in public databases was performed for some representatives of the tribes Fabeae, Trifolieae and Cicereae. …”
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Telomere length varies with sex, hatching rank and year of birth in the Little Owl, Athene noctua by Criscuolo, François, Fache, Inès, Scaar, Bertrand, Zahn, Sandrine, Bleu, Josefa

“…Telomeres are non-coding DNA sequences located at the end of linear chromosomes, protecting genome integrity. In numerous taxa, telomeres shorten with age and telomere length (TL) is positively correlated with longevity. …”
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Identification of GBN5 as a molecular biomarker of pan-cancer species by integrated multi-omics analysis by Qian Guo, Xinxin Zhong, Zihan Dang, Baiquan Zhang, Zixin Yang

“…In addition, GBN5 was positively correlated with multiple genomic scores, implying that higher GBN5 expression tends to imply that patients have higher chromosomal instability. More importantly, GBN5 has an important role in predicting drug sensitivity. …”
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Low-density SNP marker sets for genetic variation analysis and variety identification in cultivated citrus by Phuong Linh Nguyen, Jin-Kee Jung, Jee-Soo Park, Sung-Chur Sim

“…Results A total of 26,903 high-quality SNPs were detected across nine chromosomes in the 144 citrus varieties, consisting of 70 C. unshiu, 40 C. sinensis, 22 interspecific hybrids, and 12 others. …”
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