Articles

A de novo frameshift pathogenic variant in TBR1 identified in autism without intellectual disability

In order to be able to provide accurate genetic counseling to patients with Autism Spectrum Disorder (ASD), it is crucial to identify correlations between heterogeneous phenotypes and genetic alterations. Amon...

Authors: Laurie-Anne Sapey-Triomphe, Julie Reversat, Gaëtan Lesca, Nicolas Chatron, Marina Bussa, Sylvie Mazoyer, Christina Schmitz, Sandrine Sonié and Patrick Edery

Long non-coding RNA MIR4300HG polymorphisms are associated with postoperative nausea and vomiting: a genome-wide association study

Genetic factors such as single-nucleotide polymorphisms (SNPs) play a key role in the development of postoperative nausea and vomiting (PONV). However, previous findings are not widely applicable to different ...

Authors: Shigekazu Sugino, Daisuke Konno, Yosuke Kawai, Masao Nagasaki, Yasuhiro Endo, Tomo Hayase, Misako Yamazaki-Higuchi, Yukihiro Kumeta, Shunsuke Tachibana, Katsuhiko Saito, Jun Suzuki, Kanta Kido, Nahoko Kurosawa, Akiyoshi Namiki and Masanori Yamauchi

Genetic variants of the human host influencing the coronavirus-associated phenotypes (SARS, MERS and COVID-19): rapid systematic review and field synopsis

The COVID-19 pandemic has strengthened the interest in the biological mechanisms underlying the complex interplay between infectious agents and the human host. The spectrum of phenotypes associated with the SA...

Authors: Emilio Di Maria, Andrea Latini, Paola Borgiani and Giuseppe Novelli

Analysis of ACE2 genetic variants in 131 Italian SARS-CoV-2-positive patients

Coronaviruses (CoV) are a large family of viruses that are common in humans and many animal species. Animal coronaviruses rarely infect humans with the exceptions of the Middle East respiratory syndrome (

Authors: Antonio Novelli, Michela Biancolella, Paola Borgiani, Dario Cocciadiferro, Vito Luigi Colona, Maria Rosaria D’Apice, Paola Rogliani, Salvatore Zaffina, Francesca Leonardis, Andrea Campana, Massimiliano Raponi, Massimo Andreoni, Sandro Grelli and Giuseppe Novelli

Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population

Mitochondrial diseases (MDs) are a group of clinically and genetically heterogeneous disorders characterized by defects in oxidative phosphorylation. Since clinical phenotypes of MDs may be non-specific, genet...

Authors: Mandy H.Y. Tsang, Anna K.Y. Kwong, Kate L.S. Chan, Jasmine L.F. Fung, Mullin H.C. Yu, Christopher C.Y. Mak, Kit-San Yeung, Richard J.T. Rodenburg, Jan A.M. Smeitink, Rachel Chan, Thomas Tsoi, Joannie Hui, Shelia S.N Wong, Shuk-Mui Tai, Victor C.M. Chan, Che-Kwan Ma…

Human genetics and genomics meetings going virtual: practical lessons learned from two international meetings in early 2020

The recent coronavirus disease 2019 (COVID-19) pandemic has caused worldwide disruption which also extends to the arena of scientific meetings around the world. Here, we explore the lessons learned from moving...

Authors: Alistair R. R. Forrest, Gabriela M. Repetto and Juergen K. V. Reichardt

Novel biallelic loss-of-function variants in CEP290 cause Joubert syndrome in two siblings

Joubert syndrome (JS) is a rare genetic disorder, which can be defined by brain stem malformation, cerebellar vermis hypoplasia, and consequent “molar tooth sign” (MTS). JS always shares variety of phenotypes ...

Authors: Xiang Wang, Zhu Zhang, Xueguang Zhang, Ying Shen and Hongqian Liu

Application of CRISPR/Cas9 to human-induced pluripotent stem cells: from gene editing to drug discovery

Human-induced pluripotent stem cells (hiPSCs) and CRISPR/Cas9 gene editing system represent two instruments of basic and translational research, which both allow to acquire deep insight about the molecular bas...

Authors: Claudia De Masi, Paola Spitalieri, Michela Murdocca, Giuseppe Novelli and Federica Sangiuolo

A potential prognostic prediction model of colon adenocarcinoma with recurrence based on prognostic lncRNA signatures

Colon adenocarcinoma (COAD) is one of the common gastrointestinal malignant diseases, with high mortality rate and poor prognosis due to delayed diagnosis. This study aimed to construct a prognostic prediction...

Authors: Lipeng Jin, Chenyao Li, Tao Liu and Lei Wang

Whole-genome sequencing of Chinese centenarians reveals important genetic variants in aging WGS of centenarian for genetic analysis of aging

Genetic research on longevity has provided important insights into the mechanism of aging and aging-related diseases. Pinpointing import genetic variants associated with aging could provide insights for aging ...

Authors: Shuhua Shen, Chao Li, Luwei Xiao, Xiaoming Wang, Hang Lv, Yuan Shi, Yixue Li and Qi Huang

Genomics of COVID-19: molecular mechanisms going from susceptibility to severity of the disease

Authors: Ruty Mehrian-Shai, Giuseppe Novelli, Vasilis Vasiliou, Jessica Watt and Juergen K. V. Reichardt

Clinical performance of non-invasive prenatal served as a first-tier screening test for trisomy 21, 18, 13 and sex chromosome aneuploidy in a pilot city in China

Cell-free fetal DNA (cffDNA) has opened up new approaches for non-invasive prenatal testing (NIPT), and it is often used as the second-tier test for high-risk pregnant women in detecting trisomy (T) 21, T18, a...

Authors: Yanhui Liu, Hailiang Liu, Yi He, Wanfang Xu, Qiulin Ma, Yuzhen He, Wei Lei, Guoquan Chen, Zheng He, Jiayi Huang, Jianan Liu, Yuanru Liu, Quanfei Huang and Fubing Yu

COVID-19 preclinical models: human angiotensin-converting enzyme 2 transgenic mice

Coronavirus disease 2019 (COVID-19) is a declared pandemic that is spreading all over the world at a dreadfully fast rate. Severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2), the pathogen of COVID-19...

Authors: Cathleen Lutz, Leigh Maher, Charles Lee and Wonyoung Kang

Gene X environment: the cellular environment governs the transcriptional response to environmental chemicals

An individual’s response to environmental exposures varies depending on their genotype, which has been termed the gene-environment interaction. The phenotype of cell exposed can also be a key determinant in th...

Authors: Andreanna Burman, Rolando Garcia-Milian and Shannon Whirledge

An investigation of genetic polymorphisms in heparan sulfate proteoglycan core proteins and key modification enzymes in an Australian Caucasian multiple sclerosis population

Multiple sclerosis (MS) is a chronic inflammatory demyelinating disease affecting the central nervous system in young adults. Heparan sulfate proteoglycans (HSPGs) are ubiquitous to the cell surface and the ex...

Authors: Rachel K. Okolicsanyi, Julia Bluhm, Cassandra Miller, Lyn R. Griffiths and Larisa M. Haupt

COVID-19 vulnerability: the potential impact of genetic susceptibility and airborne transmission

The recent coronavirus disease (COVID-19), caused by SARS-CoV-2, is inarguably the most challenging coronavirus outbreak relative to the previous outbreaks involving SARS-CoV and MERS-CoV. With the number of C...

Authors: Krystal J. Godri Pollitt, Jordan Peccia, Albert I. Ko, Naftali Kaminski, Charles S. Dela Cruz, Daniel W. Nebert, Juergen K.V. Reichardt, David C. Thompson and Vasilis Vasiliou

Identification of rare and common variants in BNIP3L: a schizophrenia susceptibility gene

Schizophrenia is a chronic and severe mental disorder, and it has been predicted to be highly polygenic. Common SNPs located in or near BNIP3L were found to be genome-wide significantly associated with schizophre...

Authors: Juan Zhou, Chuanchuan Ma, Ke Wang, Xiuli Li, Xuemin Jian, Han Zhang, Jianmin Yuan, Jiajun Yin, Jianhua Chen and Yongyong Shi

Hydroxymethylation and tumors: can 5-hydroxymethylation be used as a marker for tumor diagnosis and treatment?

5-Methylcytosine (5mC) is considered as a common epigenetic modification that plays an important role in the regulation of gene expression. At the same time, 5-hydroxymethylcytosine (5hmC) has been found as an...

Authors: Tianmin Xu and Haoyue Gao

A novel method to predict essential proteins based on tensor and HITS algorithm

Essential proteins are an important part of the cell and closely related to the life activities of the cell. Hitherto, Protein-Protein Interaction (PPI) networks have been adopted by many computational methods...

Authors: Zhihong Zhang, Yingchun Luo, Sai Hu, Xueyong Li, Lei Wang and Bihai Zhao

Reply to “Is the number of DNA repair genes associated with evolution rate and size of genomes?”

Authors: Konstantinos Voskarides

Is the number of DNA repair genes associated with evolution rate and size of genomes?

Authors: Ion Udroiu

Do epigenetic changes caused by commensal microbiota contribute to development of ocular disease? A review of evidence

There is evidence that genetic polymorphisms and environmentally induced epigenetic changes play an important role in modifying disease risk. The commensal microbiota has the ability to affect the cellular env...

Authors: Ashima Nayyar, Sofya Gindina, Arturo Barron, Yan Hu and John Danias

Metabolomic profiling of metoprolol hypertension treatment reveals altered gut microbiota-derived urinary metabolites

Metoprolol succinate is a long-acting beta-blocker prescribed for the management of hypertension (HTN) and other cardiovascular diseases. Metabolomics, the study of end-stage metabolites of upstream biologic p...

Authors: Chad N. Brocker, Thomas Velenosi, Hania K. Flaten, Glenn McWilliams, Kyle McDaniel, Shelby K. Shelton, Jessica Saben, Kristopher W. Krausz, Frank J. Gonzalez and Andrew A. Monte

Hyperinsulinism associated with GLUD1 mutation: allosteric regulation and functional characterization of p.G446V glutamate dehydrogenase

Gain-of-function mutations in the GLUD1 gene, encoding for glutamate dehydrogenase (GDH), result in the hyperinsulinism/hyperammonemia HI/HA syndrome. HI/HA patients present with harmful hypoglycemia secondary to...

Authors: Karolina Luczkowska, Caroline Stekelenburg, Frédérique Sloan-Béna, Emmanuelle Ranza, Giacomo Gastaldi, Valérie Schwitzgebel and Pierre Maechler

TRPM3_miR-204: a complex locus for eye development and disease

First discovered in a light-sensitive retinal mutant of Drosophila, the transient receptor potential (TRP) superfamily of non-selective cation channels serve as polymodal cellular sensors that participate in dive...

Authors: Alan Shiels

Identification and characterization of methylation-mediated transcriptional dysregulation dictate methylation roles in preeclampsia

Preeclampsia (PE) is a heterogeneous, hypertensive disorder of pregnancy, with no robust biomarkers or effective treatments. PE increases the risk of poor outcomes for both the mother and the baby. Methylation...

Authors: Shuyu Zhao, Nan Lv, Yan Li, Tianyi Liu, Yuhong Sun and Xiaodan Chu

Delineating significant genome-wide associations of variants with antipsychotic and antidepressant treatment response: implications for clinical pharmacogenomics

Genome-wide association studies (GWAS) have significantly contributed to the association of many clinical conditions and phenotypic characteristics with genomic variants. The majority of these genomic findings...

Authors: Maria Koromina, Stefania Koutsilieri and George P. Patrinos

Re-analysis of whole blastocysts after trophectoderm biopsy indicated chromosome aneuploidy

To compare the concordance between trophectoderm (TE) analysis and whole blastocyst analysis of embryos from chromosomal structural rearrangement (SR) carriers.

Authors: Zhanhui Ou, Zhiheng Chen, Minna Yin, Yu Deng, Yunhao Liang, Wenjun Wang, Yuanqing Yao and Ling Sun

Investigating diagnostic sequencing techniques for CADASIL diagnosis

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a cerebral small vessel disease caused by mutations in the NOTCH3 gene. Our laboratory has been undertaking ...

Authors: P. J. Dunn, N. Maksemous, R. A. Smith, H. G. Sutherland, L. M. Haupt and L. R. Griffiths

Associations between microRNA (miR-25, miR-32, miR-125, and miR-222) polymorphisms and recurrent implantation failure in Korean women

Recurrent implantation failure (RIF) is the failure of embryos to implant more than two times in a given individual. There is debate about a precise definition for RIF, but we consider more than two implantati...

Authors: Jeong Yong Lee, Eun Hee Ahn, Jung Oh Kim, Han Sung Park, Chang Soo Ryu, Ji Hyang Kim, Young Ran Kim, Woo Sik Lee and Nam Keun Kim

Downregulation of miR-542-3p promotes osteogenic transition of vascular smooth muscle cells in the aging rat by targeting BMP7

Aging is believed to have a close association with cardiovascular diseases, resulting in various pathological alterations in blood vessels, including vascular cell phenotypic shifts. In aging vessels, the micr...

Authors: Huan Liu, Hongwei Wang, Sijin Yang and Dehui Qian

The multi-faceted functioning portrait of LRF/ZBTB7A

Transcription factors (TFs) consisting of zinc fingers combined with BTB (for broad-complex, tram-track, and bric-a-brac) domain (ZBTB) are a highly conserved protein family that comprises a multifunctional an...

Authors: Caterina Constantinou, Magda Spella, Vasiliki Chondrou, George P. Patrinos, Adamantia Papachatzopoulou and Argyro Sgourou

Investigating RNA expression profiles altered by nicotinamide mononucleotide therapy in a chronic model of alcoholic liver disease

Chronic alcohol consumption is a significant cause of liver disease worldwide. Several biochemical mechanisms have been linked to the initiation and progression of alcoholic liver disease (ALD) such as oxidati...

Authors: Mohammed A. Assiri, Hadi R. Ali, John O. Marentette, Youngho Yun, Juan Liu, Matthew D. Hirschey, Laura M. Saba, Peter S. Harris and Kristofer S. Fritz

Human genetics and genomics research in Ecuador: historical survey, current state, and future directions

In South America, the history of human genetics is extensive and its beginnings go back to the onset of the twentieth century. In Ecuador, the historical record of human genetics and genomics research is limit...

Authors: Marlon S. Zambrano-Mila, Spiros N. Agathos and Juergen K. V. Reichardt

EFTUD2 gene deficiency disrupts osteoblast maturation and inhibits chondrocyte differentiation via activation of the p53 signaling pathway

Mandibulofacial dysostosis with microcephaly (MFDM) is characteristic of multiple skeletal anomalies comprising craniofacial anomalies/dysplasia, microcephaly, dysplastic ears, choanal atresia, and short statu...

Authors: Jing Wu, Yi Yang, You He, Qiang Li, Xu Wang, Chengjun Sun, Lishun Wang, Yu An and Feihong Luo

Factors affecting cell-free DNA fetal fraction: statistical analysis of 13,661 maternal plasmas for non-invasive prenatal screening

The identification of cell-free fetal DNA (cffDNA) facilitated non-invasive prenatal screening (NIPS) through analysis of cffDNA in maternal plasma. However, challenges regarding its clinical implementation be...

Authors: Yaping Hou, Jiexia Yang, Yiming Qi, Fangfang Guo, Haishan Peng, Dongmei Wang, Yixia Wang, Xiaohui Luo, Yi Li and Aihua Yin

Genetics and functions of the retinoic acid pathway, with special emphasis on the eye

Retinoic acid (RA) is a potent morphogen required for embryonic development. RA is formed in a multistep process from vitamin A (retinol); RA acts in a paracrine fashion to shape the developing eye and is esse...

Authors: Brian Thompson, Nicholas Katsanis, Nicholas Apostolopoulos, David C. Thompson, Daniel W. Nebert and Vasilis Vasiliou

Noninvasive prenatal testing for chromosome aneuploidies and subchromosomal microdeletions/microduplications in a cohort of 42,910 single pregnancies with different clinical features

Since the discovery of cell-free DNA (cfDNA) in maternal plasma, it has opened up new approaches for non-invasive prenatal testing. With the development of whole-genome sequencing, small subchromosomal deletio...

Authors: Yibo Chen, Qi Yu, Xiongying Mao, Wei Lei, Miaonan He and Wenbo Lu

Transcriptomic analysis of monocytes from HIV-positive men on antiretroviral therapy reveals effects of tobacco smoking on interferon and stress response systems associated with depressive symptoms

Tobacco smoking induces immunomodulatory and pro-inflammatory effects associated with transcriptome changes in monocytes and other immune cell types. While smoking is prevalent in HIV-infected (HIV+) individua...

Authors: David R. Lorenz, Vikas Misra and Dana Gabuzda

Association between polymorphism in CDKN2B-AS1 gene and its interaction with smoking on the risk of lung cancer in a Chinese population

Long non-coding RNAs became the hot spots in the carcinogenesis of various tumors. This case-control study evaluated the association between the rs2151280 in lncRNA CDKN2B-AS1 and lung cancer risk.

Authors: Xiaoting Lv, Zhigang Cui, Hang Li, Juan Li, Zitai Yang, Yanhong Bi, Min Gao, Ziwei Zhang, Shengli Wang, Baosen Zhou and Zhihua Yin

Common polymorphic inversions at 17q21.31 and 8p23.1 associate with cancer prognosis

Chromosomal inversions are structural genetic variants where a chromosome segment changes its orientation. While sporadic de novo inversions are known genetic risk factors for cancer susceptibility, it is unkn...

Authors: Carlos Ruiz-Arenas, Alejandro Cáceres, Victor Moreno and Juan R. González

Genetic variants of VEGFR-1 gene promoter in acute myocardial infarction

Coronary artery disease (CAD) including acute myocardial infarction (AMI) is a common complex disease caused by atherosclerosis. Vascular epithelial growth factor receptor-1 (VEGFR-1) stimulates angiogenesis a...

Authors: Haihua Wang, Shufang Zhang, Na Wang, Jie Zhang, Mingkai Chen, Xiaohui He, Yinghua Cui, Shuchao Pang and Bo Yan

Identification of key candidate genes and molecular pathways in white fat browning: an anti-obesity drug discovery based on computational biology

Obesity—with its increased risk of obesity-associated metabolic diseases—has become one of the greatest public health epidemics of the twenty-first century in affluent countries. To date, there are no ideal dr...

Authors: Yuyan Pan, Jiaqi Liu and Fazhi Qi

Copy number of 8q24.3 drives HSF1 expression and patient outcome in cancer: an individual patient data meta-analysis

The heat-shock transcription factor 1 (HSF1) has been linked to cell proliferation and survival in cancer and has been proposed as a biomarker for poor prognosis. Here, we assessed the role of HSF1 expression in ...

Authors: Nele Brusselaers, Karl Ekwall and Mickael Durand-Dubief

Human mitochondrial genome compression using machine learning techniques

In recent years, with the development of high-throughput genome sequencing technologies, a large amount of genome data has been generated, which has caused widespread concern about data storage and transmissio...

Authors: Rongjie Wang, Tianyi Zang and Yadong Wang

Using Apache Spark on genome assembly for scalable overlap-graph reduction

De novo genome assembly is a technique that builds the genome of a specimen using overlaps of genomic fragments without additional work with reference sequence. Sequence fragments (called reads) are assembled ...

Authors: Alexander J. Paul, Dylan Lawrence, Myoungkyu Song, Seung-Hwan Lim, Chongle Pan and Tae-Hyuk Ahn

Robust hypergraph regularized non-negative matrix factorization for sample clustering and feature selection in multi-view gene expression data

As one of the most popular data representation methods, non-negative matrix decomposition (NMF) has been widely concerned in the tasks of clustering and feature selection. However, most of the previously propo...

Authors: Na Yu, Ying-Lian Gao, Jin-Xing Liu, Juan Wang and Junliang Shang

An embedded method for gene identification problems involving unwanted data heterogeneity

Modern applications such as bioinformatics collecting data in various ways can easily result in heterogeneous data. Traditional variable selection methods assume samples are independent and identically distrib...

Authors: Meng Lu

HMNPPID—human malignant neoplasm protein–protein interaction database

Protein–protein interaction (PPI) information extraction from biomedical literature helps unveil the molecular mechanisms of biological processes. Especially, the PPIs associated with human malignant neoplasms...

Authors: Qingqing Li, Zhihao Yang, Zhehuan Zhao, Ling Luo, Zhiheng Li, Lei Wang, Yin Zhang, Hongfei Lin, Jian Wang and Yijia Zhang

Size matters: how sample size affects the reproducibility and specificity of gene set analysis

Gene set analysis is a well-established approach for interpretation of data from high-throughput gene expression studies. Achieving reproducible results is an essential requirement in such studies. One factor ...

Authors: Farhad Maleki, Katie Ovens, Ian McQuillan and Anthony J. Kusalik