RBP-Tar – a searchable database for experimental RBP binding sites [version 3; peer review: 1 approved, 2 approved with reservations] by Panagiotis Alexiou, David Cechak, Radka Svobodova, Tomas Racek, Vlastimil Martinek, Katarina Gresova

“…Methods To make this data more accessible to the scientific community, we have developed RBP-Tar (https://ncbr.muni.cz/RBP-Tar ), a web server and database that utilises eCLIP data for 167 RBPs mapped on the human genome. The web server allows researchers to easily search and retrieve binding site information by genomic location and RBP name. …”
Get full text

Perspectives on Clinical Informatics: Integrating Large-Scale Clinical, Genomic, and Health Information for Clinical Care by In Young Choi, Tae-Min Kim, Myung Shin Kim, Seong K. Mun, Yeun-Jun Chung

“…The widespread adoption of EMR systems and the completion of the Human Genome Project developed the technologies for data acquisition, analysis, and visualization in two different domains. …”
Get full text

Implementation Nutrigenomic of Vitamin D in Periodontitis by Hervina Hervina, I Dewa Made Sukrama, I Made Jawi

“…Nutrients acting on the human genome, either directly or indirectly, can change the expression and structure of genes. …”
Get full text

Bioinformatics Based Drug Repurposing Approach for Breast and Gynecological Cancers: RECQL4/FAM13C Genes Address Common Hub Genes and Drugs by Gizem Ayna Duran

“…Materials and Methods: Gene intensity values of breast cancer, gynaecological cancers such as cervical, ovarian and endometrial cancers were used from the Gene Expression Omnibus database Affymetrix Human Genome U133 Plus 2.0 Array project. Using the linear modelling method included in the R LIMMA package, genes that differ between healthy individuals and cancer patients were identified. …”
Get full text

The impact of genetic polymorphisms of IL28B gene on the efficacy of antiviral therapy of the chronic hepatitis C by using the standard Interferon-<i>α</i> by A. V. Lapshin, M. V. Mayevskaya, V. T. Ivashkin, P. O. Bogomolov, I. G. Nikitin, O. O. Znoyko

“…The studies of genetic polymorphisms of the regions of human genome demonstrates that the positive predictive value of IL28B polymorphisms among the patients with 1-st HCV genotype is higher than among the patients with 2nd and 3d genotypes. …”
Get full text

Trajectory of human migration: insights from autosomal and non-autosomal variant clustering patterns by Samayeta Sarkar Tuli, Joyatry Sarker, Mrinmoy Saha Roddur, Anik Biswas, Reefa Nawar, Tahmina Akter, Md. Wahid Murad, Abu Ashfaqur Sajib

“…Moreover, the genetic markers on the Y chromosome constitute only a minor fraction of the entire human genome. Here, we analyzed over 75 million genetic variants (single nucleotide variants (SNVs) and short insertion-deletion (InDels)) within consecutive 2500000 base pair windows in the autosomal as well as non-autosomal chromosomes of 22 populations in four major geographic regions that are cataloged in the 1000 Genomes Project to understand the clustering patterns of the autosomal and non-autosomal variants. …”
Get full text

Liberties of the genome: insertions of mitochondrial DNA fragments into nuclear genome by M. V. Golubenko, V. P. Puzyrev

“…The transition of detached fragments of mitochondrial DNA into the nucleus and their integration into chromosomal DNA is a special kind of genetic variability that highlights the relation between the two genomes and their interaction in a eukaryotic cell. The human genome contains several hundreds of insertions of mtDNA fragments (NUMTS). …”
Get full text

Characterization of novel human endogenous retrovirus structures on chromosomes 6 and 7 by Nicholas Pasternack, Nicholas Pasternack, Ole Paulsen, Avindra Nath

“…Human endogenous retroviruses (HERV) represent nearly 8% of the human genome. Of these, HERV-K subtype HML-2 is a transposable element that plays a critical role in embryonic development and in the pathogenesis of several diseases. …”
Get full text

An appropriate DNA input for bisulfite conversion reveals LINE-1 and Alu hypermethylation in tissues and circulating cell-free DNA from cancers. by Trang Thi Quynh Tran, Tung The Pham, Than Thi Nguyen, Trang Hien Do, Phuong Thi Thu Luu, Uyen Quynh Nguyen, Linh Dieu Vuong, Quang Ngoc Nguyen, Son Van Ho, Hang Viet Dao, Tong Van Hoang, Lan Thi Thuong Vo

“…The autonomous and active Long-Interspersed Element-1 (LINE-1, L1) and the non-autonomous Alu retrotransposon elements, contributing to 30% of the human genome, are the most abundant repeated sequences. …”
Get full text

Concordance between Immunohistochemistry and Microarray Gene Expression Profiling for Estrogen Receptor, Progesterone Receptor, and HER2 Receptor Statuses in Breast Cancer Patients... by Ghina B. Fakhri, Reem S. Akel, Maya K. Khalil, Deborah A. Mukherji, Fouad I. Boulos, Arafat H. Tfayli

“…Gene expression profiling was performed using the GeneChip Human Genome U133 Plus 2.0 arrays (Affymetrix Inc). Immunohistochemical staining for estrogen receptor, progesterone receptor, and HER2 status was performed using standard methods at a CAP-accredited pathology laboratory. …”
Get full text

Antioxidant Properties of Popular Turmeric (Curcuma longa) Varieties from Bangladesh by E. M. Tanvir, Md. Sakib Hossen, Md. Fuad Hossain, Rizwana Afroz, Siew Hua Gan, Md. Ibrahim Khalil, Nurul Karim

Get full text

Methylation of 45S Ribosomal DNA (rDNA) Is Associated with Cancer and Aging in Humans by Fengqing Shao, Xiaoqi Liu, Xianzhi Zhang, Qi Wang, Wencai Wang

“…Epigenetic studies, especially DNA methylation, have been intensively investigated on them over the years, though a lot of unanswered issues remain. In the human genome, rDNA is a highly conserved tandem repeat family playing critical roles in protein synthesis, genome stability and integrity, etc. …”
Get full text

Killer-Cell Immunoglobulin-Like Receptors (KIR) in HIV-Exposed Infants in Cameroon by Kagoué Simeni Luc-Aimé, Yindom Louis-Marie, Loni Ekali Gabriel, Clauvis Kunkeng Yengo, F. Esemu Livo, Nguedia Jules Clement Assob

“…This may be partly due to differences in host immunogenetic factors in highly polymorphic regions of the human genome such as those encoding the killer-cell immunoglobulin-like receptor (KIR) molecules which modulate the activities of natural killer cells. …”
Get full text

Genetic ancestry and the colonial legacies of race in genomics: a cross-disciplinary dialogue by Ernesto Schwartz-Marin, Tayyaba Jiwani, Sarah Abel, Yulia Egorova, Amade M’charek, Diogo Meyer, Andrés Moreno Estrada, Katharina Schramm, Peter Wade, Michel Naslavsky, Michel Naslavsky

“…This is despite the fact that geneticists broadly dismissed racial categories as obsolete and unfounded after the Human Genome Project was completed in 2003. In fact, contemporary genomics initiatives have often ended up reinforcing ethnocentric and nativist conceptions of difference, drawing intense criticism from activists and critical social scientists. …”
Get full text

Transcriptome profiling revealed multiple circadian rhythm-related genes associated with common gynecological cancers by Lan Peng, Meiping Jiang, Kangming Li, Shuhui Yu, Chunfang Zhao, Lan Zhang, Lan Li

“…BackgroundStudies have shown that more than half of the human genome expression is affected by circadian rhythms, which includes genes involved in cell cycle control, DNA repair and apoptosis that are critical in cancer biology. …”
Get full text

Selective Binding of Distamycin A Derivative to G-Quadruplex Structure [d(TGGGGT)]4 by Bruno Pagano, Iolanda Fotticchia, Stefano De Tito, Carlo A. Mattia, Luciano Mayol, Ettore Novellino, Antonio Randazzo, Concetta Giancola

“…Quadruplex-prone sequences are found in many regions of human genome and in the telomeres of all eukaryotic organisms. …”
Get full text

Advances in Nucleic Acid Drugs and Gene Therapies based on Animal Models of Duchenne Muscular Dystrophy by LIU Siyu, LAI Yuezhao, GUO Wenting, CHEN Xuejin

“…The DMD gene, which encodes dystrophin, is the largest known gene in the human genome. Mutations in the DMD gene are highly diverse, including exon deletions, duplications, point mutations, and small insertions or deletions, posing significant challenges for treatment. …”
Get full text

Mitochondrial trifunctional protein deficiency caused by a deep intronic deletion leading to aberrant splicing by Thomas Cassini, Sarah Silverstein, Molly Behan, Cynthia J. Tifft, May Christine Malicdan, David R. Adams, Undiagnosed Diseases Network, Sun‐Young Ahn, Debra S. Regier

Get full text

Retrotrans-genomics identifies aberrant THE1B endogenous retrovirus fusion transcripts in the pathogenesis of sarcoidosis by Shunsuke Funaguma, Aritoshi Iida, Yoshihiko Saito, Jantima Tanboon, Francia Victoria De Los Reyes, Kyuto Sonehara, Yu-ichi Goto, Yukinori Okada, Shinichiro Hayashi, Ichizo Nishino

“…Abstract Transposon-like human element 1B (THE1B) originates from ancient retroviral sequences integrated into the primate genome approximately 50 million years ago, now accounting for at least 27,233 copies in the human genome, suggesting their extensive influence on human genomic architecture. …”
Get full text

Reactivation of mTOR signaling slows neurodegeneration in a lysosomal sphingolipid storage disease by Hongling Zhu, Y. Terry Lee, Colleen Byrnes, Jabili Angina, Danielle A. Springer, Galina Tuymetova, Mari Kono, Cynthia J. Tifft, Richard L. Proia

Get full text