Cyclin-Dependent Kinase-Like 5 (CDKL5): Possible Cellular Signalling Targets and Involvement in CDKL5 Deficiency Disorder by Syouichi Katayama, Noriyuki Sueyoshi, Tetsuya Inazu, Isamu Kameshita

“…Cyclin-dependent kinase-like 5 (CDKL5, also known as STK9) is a serine/threonine protein kinase originally identified in 1998 during a transcriptional mapping project of the human X chromosome. Thereafter, a mutation in CDKL5 was reported in individuals with the atypical Rett syndrome, a neurodevelopmental disorder, suggesting that CDKL5 plays an important regulatory role in neuronal function. …”
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Metabolism of Mycotoxins, Intracellular Functions of Vitamin B12, and Neurological Manifestations in Patients with Chronic Toxigenic Mold Exposures. A Review by Ebere C. Anyanwu, Mohammed Morad, Andrew W. Campbell

“…The overall functions of vitamin B12 as a source of coenzymes, in intracellular recycling of methionine, in methionine synthase reaction, in the prevention of chromosome breakage, in methylation, and in maintaining a one-carbon metabolic balance are reviewed. …”
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Functionally-informed fine-mapping identifies genetic variants linking increased CHD1L expression and HIV restriction in monocytes by Riley H. Tough, Paul J. McLaren, The International Collaboration for the Genomics of HIV

“…A recent genome-wide association study in individuals of African ancestries identified a region on chromosome 1 significantly associated with decreased HIV set-point viral load. …”
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GNE Myopathy in Turkish Sisters with a Novel Homozygous Mutation by Gulden Diniz, Yaprak Secil, Serdar Ceylaner, Figen Tokucoglu, Sabiha Türe, Mehmet Celebisoy, Tülay Kurt İncesu, Galip Akhan

“…Hereditary inclusion body myopathy is caused by biallelic defects in the GNE gene located on chromosome 9p13. It generally affects adults older than 20 years of age. …”
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Unveiling genetic basis of seedling emergence from deep soil depth under dry direct- seeded conditions in rice (Oryza sativa L.) by Vagish Mishra, Vagish Mishra, Shilpi Dixit, Shilpi Dixit, Swati Tyagi, Swati Tyagi, Challa Venkateswarlu, Challa Venkateswarlu, Pronob J. Paul, Pronob J. Paul, Anoop Kishor Singh Gurjar, Anoop Kishor Singh Gurjar, Shalabh Dixit, Nitika Sandhu, Smita Kurup, Arvind Kumar, Arvind Kumar, Pallavi Sinha, Pallavi Sinha, Vikas Kumar Singh, Vikas Kumar Singh, Uma Maheshwar Singh, Uma Maheshwar Singh

“…The study pinpointed three QTL hotspot regions: one on chromosome 1 (qPG1, qCL1) and two on chromosome 2 (qPG2.1, qML2.2, qCL2.1) and (qPG2.2, qCL2.2). …”
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The Mitigating Effect of Citrullus colocynthis (L.) Fruit Extract against Genotoxicity Induced by Cyclophosphamide in Mice Bone Marrow Cells by Mohammad Shokrzadeh, Aroona Chabra, Farshad Naghshvar, Amirhossein Ahmadi

“…(CCT) fruits extract against cyclophosphamide- (CP-)induced DNA damage in mice bone marrow cells was evaluated using micronucleus assay, as an index of induced chromosomal damage. Mice were preadministered with different doses of CCT via intraperitoneal injection for 7 consecutive days followed by injection with CP (70 mg/kg b.w.) 1 hr after the last injection of CCT. …”
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Regulation of Expression of Oxacillin-Inducible Methionine Sulfoxide Reductases in Staphylococcus aureus by Kyle R. Baum, Zulfiqar Ahmad, Vineet K. Singh

“…To understand the regulation of this locus, reporter strains were constructed by integrating a DNA fragment consisting of the msrA1/msrB promoter in front of a promoterless lacZ gene in the chromosome of wild-type and MsrA1-, MsrB-, MsrA1/MsrB-, and SigB-deficient methicillin-sensitive S. aureus strain SH1000 and methicillin-resistant S. aureus strain COL. …”
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Gene Structures, Classification, and Expression Models of the DREB Transcription Factor Subfamily in Populus trichocarpa by Yunlin Chen, Jingli Yang, Zhanchao Wang, Haizhen Zhang, Xuliang Mao, Chenghao Li

“…The phylogenic construction suggests that the PtrDREB gene subfamily can be classified broadly into six subtypes (DREB A-1 to A-6) in Populus. The chromosomal localizations of the PtrDREB genes indicated 18 segmental duplication events involving 36 genes and six redundant PtrDREB genes were involved in tandem duplication events. …”
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Groping for Quantitative Digital 3-D Image Analysis: An Approach to Quantitative Fluorescence In Situ Hybridization in Thick Tissue Sections of Prostate Carcinoma by Karsten Rodenacker, Michaela Aubele, Peter Hutzler, P. S. Umesh Adiga

“…In molecular pathology numerical chromosome aberrations have been found to be decisive for the prognosis of malignancy in tumours. …”
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PWS/AS MS-MLPA Confirms Maternal Origin of 15q11.2 Microduplication by Angelika J. Dawson, Janice Cox, Karine Hovanes, Elizabeth Spriggs

“…The proximal region of the long arm of chromosome 15q11.2-q13 is associated with various neurodevelopmental disorders, including Prader-Willi (PWS) and Angelman (AS) syndromes, autism, and other developmental abnormalities resulting from deletions and duplications. …”
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Expanding the BP1-BP2 15q11.2 Microdeletion Phenotype: Tracheoesophageal Fistula and Congenital Cataracts by D. Wong, S. M. Johnson, D. Young, L. Iwamoto, S. Sood, T. P. Slavin

“…The proximal q arm of chromosome 15 contains breakpoint regions BP1–BP5 with the classic deletion of BP1–BP3 best known to be associated with Prader-Willi and Angelman syndromes. …”
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Genomic insights into ecological adaptation of oaks revealed by phylogenomic analysis of multiple species by Tian-Rui Wang, Xin Ning, Si-Si Zheng, Yu Li, Zi-Jia Lu, Hong-Hu Meng, Bin-Jie Ge, Gregor Kozlowski, Meng-Xiao Yan, Yi-Gang Song

“…We found that oak species exhibited a higher degree of genomic conservation and stability, as indicated by the absence of large-scale chromosomal structural variations or additional whole-genome duplication events. …”
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Two Novel Mutations Identified in an African-American Child with Chediak-Higashi Syndrome by Kerry Morrone, Yanhua Wang, Marjan Huizing, Elie Sutton, James G. White, William A. Gahl, Karen Moody

“…The disease is caused by mutations in the CHS1/LYST gene located on chromosome 1, which affects lysosome morphology and function. …”
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Clinical implications of DNA ploidy, stroma, and nucleotyping in predicting peritoneal metastasis risk for gastric cancer by Jingwen Yuan, Yue Jiang, Fangfang Chen, Tian Li, Zhi Zeng, Shasha Ruan, Junfeng Yan, Jiatong Lu, Qiang Li, Jingping Yuan, Qiang Tong

“…Non-diploid status, high stroma, and chromosomal heterogeneity emerged as positive factors for peritoneal metastasis in gastric cancer. …”
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TMEM187-IRAK1 Polymorphisms Associated with Rheumatoid Arthritis Susceptibility in Tunisian and French Female Populations: Influence of Geographic Origin by Olfa Khalifa, Nathalie Balandraud, Nathalie Lambert, Isabelle Auger, Jean Roudier, Audrey Sénéchal, David Geneviève, Christophe Picard, Gérard Lefranc, Isabelle Touitou, Bakridine M’Madi Mrenda, Cécilia Benedito, Etienne Pardoux, Anne-Laure Gagez, Yves-Marie Pers, Christian Jorgensen, Touhami Mahjoub, Florence Apparailly

“…Our data further support the involvement of X chromosome in RA susceptibility and evidence ethnicities differences that might be explained by differences in the frequencies of SE HLA-DRB1 alleles between both populations.…”
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Comparative Genomic Hybridization (CGH) in New World Monkeys (Primates) Reveals the Distribution of Repetitive Sequences in Cebinae and Callitrichinae by Vanessa Milioto, Vincenzo Arizza, Aiti Vizzini, Polina L. Perelman, Melody E. Roelke-Parker, Francesca Dumas

“…The uncovered distribution of repetitive sequences is analyzed from an evolutionary perspective to elucidate the genomic dynamics of the repetitive sequences at the level of chromosomal organization.…”
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Targeting of retrovirus-derived Rtl8a/8b causes late-onset obesity, reduced social response and increased apathy-like behaviour by Yoshifumi Fujioka, Hirosuke Shiura, Masayuki Ishii, Ryuichi Ono, Tsutomu Endo, Hiroshi Kiyonari, Yoshikazu Hirate, Hikaru Ito, Masami Kanai-Azuma, Takashi Kohda, Tomoko Kaneko-Ishino, Fumitoshi Ishino

“…They cluster as a triplet of genes on the X chromosome, but their function remains unknown. Here, we demonstrate that Rtl8a and Rtl8b play important roles in the brain: their double knockout (DKO) mice not only exhibit reduced social responses and increased apathy-like behaviour, but also become obese from young adulthood, similar to patients with late Prader–Willi syndrome (PWS), a neurodevelopmental genomic imprinting disorder. …”
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Adaptive genetic algorithm based deep feature selector for cancer detection in lung histopathological images by Avigyan Roy, Priyam Saha, Nandita Gautam, Friedhelm Schwenker, Ram Sarkar

“…Here, we calculate the fitness score of each chromosome (i.e., a candidate solution) using a filter method, instead of a classifier. …”
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Analysis of Biomolecular Changes in HeLa Cervical Cancer Cell Line Induced by Interaction with [Pd(dach)Cl₂] by Vanja Ralić, Maja D. Nešić, Tanja Dučić, Milutin Stepić, Lela Korićanac, Katarina Davalieva, Marijana Petković

“…A spectral analysis, complemented by statistics, revealed that the Pd(II) complex considerably affected all major types of macromolecules in HeLa cells and induced structural changes in proteins through an increased formation of cross-β-sheets and causes structural rearrangement in deoxyribonucleic acid (DNA) through potential chromosome fragmentation. Although a certain level of lipid peroxidation was detectable by SR FTIR spectroscopy and confirmed by an analysis of cellular lipids by matrix-assisted laser desorption and ionisation time-of-flight mass spectrometry, the oxidative stress is not a significant mechanism by which Pd(II) expresses the effect on the HeLa cells.…”
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Detection of t(14;16)(q32;q22) and Monosomy 13 by FISH Analysis in a Patient with Multiple Myeloma Associated with Sjögren’s Syndrome: The First Case Report from India by Rupesh R. Sanap, Arundhati S. Athalye, Prochi F. Madon, Boman N. Dhabhar, Mahendra B. Sute, Amit A. Mahabale, Dhanashree J. Warang, Firuza R. Parikh

“…To determine the partner chromosome associated with the IGH rearrangement, further FISH tests were set up for t(4;14)(p16;q32) followed by t(14;16)(q32;q22) on fresh slides. …”
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