3C-BASED METHODS FOR 3D GENOME ORGANIZATION ANALYSIS by N. R. Battulin, V. S. Fishman, Yu. L. Orlov, A. G. Menzorov, D. A. Afonnikov, O. L. Serov

“…The development of chromosome conformation capture (3С) methods allowed studying genome-wide chromosomal contacts by using only molecular methods. …”
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Genetic Cholestasis: Lessons from the Molecular Physiology of Bile Formation by Peter LM Jansen, Michael Müller

“…PFIC types 1 and 2 occur due to mutations in loci at chromosome 18 and chromosome 2, respectively. The pathophysiology of PFIC type 1 is not well understood. …”
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A Case of 17q21.31 Microduplication and 7q31.33 Microdeletion, Associated with Developmental Delay, Microcephaly, and Mild Dysmorphic Features by Adrian Mc Cormack, Juliet Taylor, Leah Te Weehi, Donald R. Love, Alice M. George

“…Microarray analysis identified a microduplication in chromosome 17q21.31, which encompasses the CRHR1, MAPT, and KANSL1 genes, as well as a microdeletion in chromosome 7q31.33 that is localised within the GRM8 gene. …”
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Centromere positioning orchestrates telomere bouquet formation and the initiation of meiotic differentiation by Alberto Jiménez-Martín, Alberto Pineda-Santaella, Rebeca Martín-García, Rodrigo Esteban-Villafañe, Alix Matarrese, Jesús Pinto-Cruz, Sergio Camacho-Cabañas, Daniel León-Periñán, Antonia Terrizzano, Rafael R. Daga, Sigurd Braun, Alfonso Fernández-Álvarez

“…Abstract Accurate gametogenesis requires the establishment of the telomere bouquet, an evolutionarily conserved, 3D chromosomal arrangement. In this spatial configuration, telomeres temporarily aggregate at the nuclear envelope during meiotic prophase, which facilitates chromosome pairing and recombination. …”
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Evaluation of utilization of amplified blastocoel fluid DNA gel electrophoresis band intensity as an additional minimally invasive approach in embryo selection: A cross-sectional s... by Fattaneh Khajehoseini, Zahra Noormohammadi, Poopak Eftekhari-Yazdi, Hamid Gourabi, Reza Pazhoomand, Shirzad Hosseinishenatal, Masood Bazrgar

“…Notably, electrophoresis band of all embryos with chromosomal loss was strong. No correlation was observed between embryo morphology and chromosomal ploidy (p = 0.8).  …”
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KDM6A facilitates Xist upregulation at the onset of X inactivation by Josephine Lin, Jinli Zhang, Li Ma, He Fang, Rui Ma, Camille Groneck, Galina N. Filippova, Xinxian Deng, Chizuru Kinoshita, Jessica E. Young, Wenxiu Ma, Christine M. Disteche, Joel B. Berletch

“…Abstract Background X chromosome inactivation (XCI) is a female-specific process in which one X chromosome is silenced to balance X-linked gene expression between the sexes. …”
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RECENT ADVANCES IN THE DEFINITION OF THE MOLECULAR ALTERATIONS OCCURRING IN MULTIPLE MYELOMA by Ugo Testa, Elvira Pelosi, Germana Castelli, Giuseppe Leone

“…The current pathogenic model of MM includes two types of primary events, represented by chromosome translocations or chromosome number alterations resulting in hyperdiploidy. …”
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A breeding method for Ogura CMS restorer line independent of restorer source in Brassica napus by Xuesong Wang, Xingyu Liang, Rui Wang, Yuan Gao, Yun Li, Haoran Shi, Wanzhuo Gong, Saira Saleem, Qiong Zou, Lanrong Tao, Zeming Kang, Jin Yang, Qin Yu, Qiaobo Wu, Hailan Liu, Shaohong Fu

“…As a result, the restorer gene was mapped to three positions: A09 chromosome 10.99–17.20 Mb, C03 chromosome 5.07–5.34 Mb, and C09 chromosome 18.78–36.60 Mb. …”
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Genomic Alterations in Primary Gastric Adenocarcinomas Correlate with Clinicopathological Characteristics and Survival by Marjan M. Weiss, Ernst J. Kuipers, Cindy Postma, Antoine M. Snijders, Daniel Pinkel, Stefan G. M. Meuwissen, Donna Albertson, Gerrit A. Meijer

“…Background & aims: Pathogenesis of gastric cancer is driven by an accumulation of genetic changes that to a large extent occur at the chromosomal level. In order to investigate the patterns of chromosomal aberrations in gastric carcinomas, we performed genome‐wide microarray based comparative genomic hybridisation (microarray CGH). …”
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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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SPERMATOGENESIS INDICES IN INBRED STRAINS DD/HE AND BALB/CLAC AND THEIR F1 RECIPROCAL CROSSES by M. A. Kleshchev, L. V. Osadchuk, A. V. Osadchuk

“…It is known that Y chromosome genes are important for spermatogenesis. …”
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The mexican potato species Solanum neoantipoviczii BUK. (= S. stoloniferum Schlechtd.) from the taxonomic series Longipedicellata BUK. and its use in interspecific hybridization by N. M. Zoteyeva, Yu. Tarwacka

“…The chromosome counting was performed in meristem root cells, extracted from in vitro plants. …”
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Uncovering Clinical Features of De Novo Philadelphia Positive Myelodysplasia by Aristides Armas, Chen Chen, Martha Mims, Gustavo Rivero

“…The functional role for infrequent cytogenetic alteration remains unclear. An uncommon chromosomic abnormality is the presence of the Philadelphia (Ph) chromosome. …”
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Extra Copies of der(21)t(12;21) plus Deletion of ETV6 Gene due to dic(12;18) in B-Cell Precursor ALL with Poor Outcome by Marina Araújo Fonzar Hernandes, Terezinha de Jesus Marques-Salles, Hasmik Mkrtchyan, Eliane Maria Soares-Ventura, Edinalva Pereira Leite, Maria Tereza Cartaxo Muniz, Maria Teresa Marquim Nogueira Cornélio, Thomas Liehr, Neide Santos, Maria Luiza Macedo Silva

“…Some relapse cases and unfavorable prognosis in ALL CD10+ are associated with t(12;21) bearing additional aberrations as extra copies of chromosome 21 and ETV6 gene loss. This report describes the case of a 15 month-year old girl, who displayed a karyotype with addition on chromosome 12p plus trisomy 10 and tetrasomy of chromosome 21. …”
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Acute Myeloid Leukemia with Basophilic Differentiation Transformed from Myelodysplastic Syndrome by Yasuhiro Tanaka, Atsushi Tanaka, Akiko Hashimoto, Kumiko Hayashi, Isaku Shinzato

“…An 81-year-old man was referred to our department for further examination of intermittent fever and normocytic anemia during immunosuppressive treatment. Chromosomal analysis showed additional abnormalities involving chromosome 7. …”
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Structural and functional alterations in hematological parameters among individuals at clinically high risk for acute lymphocytic leukemia by Mohd Afzal, Abhishek Sharma, Ashok Kumar Sah, Aksh Chahal

“…Furthermore, cytogenetic examination revealed frequent chromosomal defects, such as the Philadelphia chromosome and hyperdiploidy, which have been linked to a poor prognosis in ALL patients. …”
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A Case of False Negative NIPT for Down Syndrome-Lessons Learned by Meagan Smith, Kimberly M. Lewis, Alexandrea Holmes, Jeannie Visootsak

“…Down syndrome or trisomy 21 is the most common cause of prenatal chromosome abnormalities with approximately 50% of all reported chromosome conditions. …”
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RECQ4-MUS81 interaction contributes to telomere maintenance with implications to Rothmund-Thomson syndrome by Raghib Ashraf, Hana Polasek-Sedlackova, Victoria Marini, Jana Prochazkova, Zdenka Hasanova, Magdalena Zacpalova, Michala Boudova, Lumir Krejci

“…Loss of this interaction, results in significant chromosomal segregation defects, including the accumulation of micronuclei, anaphase bridges, and ultrafine bridges (UFBs). …”
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Alleviatory efficacy of achillea millefolium L. in etoxazole-mediated toxicity in allium cepa L by Zeynep Şule Topatan, Tuğçe Kalefetoğlu Macar, Oksal Macar, Emine Yalçin, Kültiğin Çavuşoğlu, Ali Acar, Fatih Kutluer

“…The most frequently observed chromosomal aberrations induced by etoxazole, which serve as bioindicators of genotoxicity, were fragment, vagrant chromosome, sticky chromosome, unequal chromatin distribution, bridge, reverse polarization, and vacuolated nucleus. …”
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Primary Biliary Cirrhosis in A Patient with Turner Syndrome by Piotr Milkiewicz, Jenny Heathcote

“…An increased prevalence of X chromosome monosomy has recently been demonstrated in patients with primary biliary cirrhosis (PBC). …”
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