Importance of Aberrant Right Subclavian Artery Detection During Second Trimester Ultrasound Examination in Low-Risk Population by Erdal Seker, Hasan Sut, Mustafa Kocar, Coskun Umit, Esra Ozkavukcu, Acar Koc

“…Although aberrant right subclavian artery is seen at a rate of 1-1.5% in normal chromosomal fetuses, it is seen at a rate of 19-36%, especially in fetuses with Down syndrome. …”
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Mechanistic insights into pachymic acid’s action on triple-negative breast Cancer through TOP2A targeting by Ming Liu, Li Zheng, Yang Zhang, Jinhui Tian

“…PA is involved in processes such as nuclear division, chromosome segregation, mitotic nuclear division, condensed chromosome formation, and protein C-terminus binding. …”
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CRISPR/Cas9-mediated genomic insertion of functional genes into Lactiplantibacillus plantarum WCFS1 by Kamilla Wiull, Lisa K. Haugen, Vincent G. H. Eijsink, Geir Mathiesen

“…To deal with this obstacle, we have constructed a finetuned, inducible two-plasmid CRISPR/Cas9-system for chromosomal gene insertion in L. plantarum. The knock-in plasmid was designed with a cassette-like structure to simplify the insertion of target DNA and streamline the CRISPR/Cas9 genome editing, bringing it one step closer to becoming a routine procedure. …”
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Transient Neonatal Diabetes Mellitus with the Rare Association of Nonsuppurative Sialadenitis and Genetic Defects in 6q24 by Manal Mustafa, Nitin Ramdas, Mahmoud Elhalik, Arif Faquih

“…Genetic analysis revealed multiple loci hypomethylation of the PLAGL1/HYMAI-DMR in the TNDM region in chromosome 6q24 and two pathogenic heterozygous variants in the ZFP57 gene. …”
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Genome-Wide Identification of miRNAs in Oily Persimmon (<i>Diospyros oleifera</i> Cheng) and Their Functional Targets Associated with Proanthocyanidin Metabolism by Meng Zhang, Rong Wu, Xinlong Hu, Zhengrong Luo, Qinglin Zhang, Sichao Yang

“…In our study, we identified genome-wide microRNAs (miRNAs) and their precursor sequence based on the chromosome-scale genome of oily persimmon and the miRNA database of “Eshi 1” according to the sequence alignment and secondary structure accession. …”
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Chromothripsis in Treatment Resistance in Multiple Myeloma by Kyoung Joo Lee, Ki Hong Lee, Kyong-Ah Yoon, Ji Yeon Sohn, Eunyoung Lee, Hyewon Lee, Hyeon-Seok Eom, Sun-Young Kong

“…Multiple myeloma (MM) is a malignant disease caused by an abnormal proliferation of plasma cells, of which the prognostic factors include chromosomal abnormality, β-2 microglobulin, and albumin. …”
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Optical genome mapping: Unraveling complex variations and enabling precise diagnosis in dystrophinopathy by Jiahui Mai, Jing Duan, Xiaoyu Chen, Liqin Liu, Dachao Liang, Tao Fu, Gang Lu, Wai Yee Chan, Xufeng Luo, Feiqiu Wen, Jianxiang Liao, Zhuo Li, Xinguo Lu

“…OGM testing uncovered rare mutations in the DMD gene in four patients, including a pericentric inversion in chromosome X (one male), a complex rearrangement (one male), and two X–autosome translocations (two females). …”
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The Analysis of the Fetal Abdominal Wall and Gastrointestinal Tract Abnormalities in a Single Tertiary Center by Gokhan Bolluk, Suleyman Cemil Oglak, Merih Cetinkaya, Isil Turan Bakirci, Oyhan Demirali, Mehmet Cok, Handan Turhan Karakus, Yasin Onur, Emine Zeynep Yilmaz

“…While genetic testing was carried out in 18 cases (27%), chromosomal abnormality was found in 6 (9.0%) cases. …”
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Novel Genomic Aberrations in Testicular Germ Cell Tumors by Array-CGH, and Associated Gene Expression Changes by Rolf I. Skotheim, Reija Autio, Guro E. Lind, Sigrid M. Kraggerud, Peter W. Andrews, Outi Monni, Olli Kallioniemi, Ragnhild A. Lothe

“…Additional frequent genomic aberrations revealed some shorter chromosomal segments, which are novel to TGCT, as well as known aberrations for which we here refined boundaries. …”
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Heterochrony in orthodenticle expression is associated with ommatidial size variation between Drosophila species by Montserrat Torres-Oliva, Elisa Buchberger, Alexandra D. Buffry, Maike Kittelmann, Genoveva Guerrero, Lauren Sumner-Rooney, Pedro Gaspar, Georg C. Bullinger, Javier Figueras Jimenez, Fernando Casares, Saad Arif, Nico Posnien, Maria D. S. Nunes, Alistair P. McGregor, Isabel Almudi

“…Furthermore, we identified an X-linked chromosomal region in D. mauritiana that results in larger eyes when introgressed into D. simulans. …”
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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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The β-Lactamase Gene Profile and a Plasmid-Carrying Multiple Heavy Metal Resistance Genes of Enterobacter cloacae by Chongyang Wu, Chaoqin Lin, Xinyi Zhu, Hongmao Liu, Wangxiao Zhou, Junwan Lu, Licheng Zhu, Qiyu Bao, Cong Cheng, Yunliang Hu

“…The complete genome of the blaMIR-positive strain (Y546) consisted of both a chromosome (4.78 Mb) and a large plasmid pY546 (208.74 kb). …”
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Prenatal Diagnosis of Isolated Lissencephaly by Ultrasonography and Magnetic Resonance Imaging: A Case Report by Mehmet Serdar Kütük, Mehmet Dolanbay, Mahmut Tuncay Özgün, Hülya Akgün, Ali Yıkılmaz

“…Cordocentesis showed a normal 46, XY karyotype, and no deletion of chromosome 17 was detected. Post-mortem examination of the fetus confirmed prenatal US and MRI findings. …”
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In Vitro Activities of Sparfloxacin, Ceftriaxone, Penicillin, Tetracycline and Doxycycline against Chlamydia trachomatis and Neisseria gonhorrhoeae by Hazel Talbot, Barbara Romanowski

“…Resistant strains of N gonorrhoeae totalled 55; 32 were penicillinase-producing and 23 chromosomally resistant. The MIC90 for these isolates was 0.004 μg/mL and 0.008 μg/mL, respectively. …”
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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. …”
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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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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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Prenatal Diagnosis of the Duchenne Muscular Dystrophy. A Family Presentation by Humberto Perera Navarro, Tatiana Zaldivar-Vaillant, Carlos Viñas-Portilla, Ariel Medina Concepción, Rosa Guerra Badía, Mariesky Zayas Guillot

“…The responsible gene of the disease is known as DMD and it is located in the X chromosome shorter arm. A family history is presented in which the pregnant woman who is the sick patient’s sister asks for a prenatal diagnosis. …”
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The DNA Polymerase _-Primase Complex: Multiple Functions and Interactions by Marco Muzi-Falconi, Michele Giannattasio, Marco Foiani, Paolo Plevani

“…Because of this peculiarity the major role of the DNA polymerase _-primase complex (pol-prim) is in the initiation of DNA replication at chromosomal origins and in the discontinuous synthesis of Okazaki fragments on the lagging strand of the replication fork. …”
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A Newborn with Panhypopituitarism and Seizures by Trupti Kale, Rachit Patil, Ramesh Pandit

“…Interstitial deletions on the short arm of chromosome 20 are uncommon, and therefore the clinical phenotype is poorly defined. …”
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