A 4.6 Mb Inversion Leading to PCDH15-LINC00844 and BICC1-PCDH15 Fusion Transcripts as a New Pathogenic Mechanism Implicated in Usher Syndrome Type 1.

abstract：:Ionizing radiation (IR) is a high-energy radiation whose biological effects depend on the irradiation doses. Low-dose radiation (LDR) is delivered during medical diagnoses or by an exposure to radioactive elements and has been linked to the occurrence of chronic diseases, such as leukemia and cardiovascular diseases. ...

journal_title：Frontiers in genetics

authors： Shin E,Lee S,Kang H,Kim J,Kim K,Youn H,Jin YW,Seo S,Youn B

更新日期：2020-10-02 00:00:00

abstract：:Cardiac myocytes (CMs) proliferate robustly during fetal life but withdraw permanently from the cell cycle soon after birth and undergo terminal differentiation. This cell cycle exit is associated with the upregulation of a host of adult cardiac-specific genes. The vast majority of adult CMs (ACMs) do not reenter cell...

journal_title：Frontiers in genetics

authors： Oyama K,El-Nachef D,Zhang Y,Sdek P,MacLellan WR

更新日期：2014-11-04 00:00:00

abstract：:Transcription is a tightly regulated process ensuring the proper expression of numerous genes regulating all aspects of cellular behavior. Transcription factors regulate multiple genes including other transcription factors that together control a highly complex gene network. The transcriptional machinery can be "hijac...

journal_title：Frontiers in genetics

authors： Faridi F,Ponnusamy K,Quagliano-Lo Coco I,Chen-Wichmann L,Grez M,Henschler R,Wichmann C

更新日期：2013-11-28 00:00:00

abstract：:The effective population size over time (demographic history) can be retraced from a sample of contemporary DNA sequences. In this paper, we propose a novel methodology based on importance sampling (IS) for exploring such demographic histories. Our starting point is the generalized skyline plot with the main differenc...

journal_title：Frontiers in genetics

authors： Ait Kaci Azzou S,Larribe F,Froda S

更新日期：2015-08-07 00:00:00

abstract：:Chemicals, toxicants, and environmental stressors mediate their biologic effect through specific modes of action (MOAs). These encompass key molecular events that lead to changes in the expression of genes within regulatory pathways. Elucidating shared biologic processes and overlapping gene networks will help to bett...

journal_title：Frontiers in genetics

authors： Funderburk KM,Auerbach SS,Bushel PR

更新日期：2017-10-24 00:00:00

abstract：:Indy encodes the fly homolog of a mammalian transporter of di and tricarboxylate components of the Krebs cycle. Reduced expression of fly Indy or two of the C. elegans Indy homologs leads to an increase in life span. Fly and worm tissues that play key roles in intermediary metabolism are also the places where Indy gen...

journal_title：Frontiers in genetics

authors： Frankel S,Rogina B

更新日期：2012-02-17 00:00:00

abstract：:Primary ciliary dyskinesia (PCD), a rare genetic disorder, is mostly caused by defects in more than 40 known cilia structure-related genes. However, in approximately 20-35% of patients, it is caused by unknown genetic factors, and the inherited pathogenic factors are difficult to confirm. Kartagener syndrome (KTS) is ...

journal_title：Frontiers in genetics

authors： Yue Y,Huang Q,Zhu P,Zhao P,Tan X,Liu S,Li S,Han X,Cheng L,Li B,Fu Y

更新日期：2019-08-22 00:00:00

abstract：:For datasets of gastric cancer collected by TCGA (The Cancer Genome Atlas) and GEO (Gene Expression Omnibus) repositories, we applied a bioinformatics approach to obtain expression data for the ISLR (immunoglobulin superfamily containing leucine-rich repeat) gene, which is highly expressed in gastric cancer tissues an...

journal_title：Frontiers in genetics

authors： Li S,Zhao W,Sun M

更新日期：2020-06-16 00:00:00

abstract：:In this study, the genetic diversity of 115 common bean germplasm resources collected from 27 counties in Chongqing over 3 years (2015-2017) was assessed. The results showed that the genetic diversity of the common bean germplasm resources was high, with an average diversity index of 1.447. The diversity of the qualit...

journal_title：Frontiers in genetics

authors： Long J,Zhang J,Zhang X,Wu J,Chen H,Wang P,Wang Q,Du C

更新日期：2020-07-08 00:00:00

abstract：Background:Myopia is a common eye disorder that is approaching epidemic proportions worldwide. A genome-wide association study identified AREG (rs12511037), GABRR1 (rs13215566), and PDE10A (rs12206610) as being associated with refractive error in Asian populations. The present study investigated the associations betwee...

journal_title：Frontiers in genetics

authors： Lin Y,Ding Y,Jiang D,Li C,Huang X,Liu L,Xiao H,Vasudevan B,Chen Y

更新日期：2020-03-25 00:00:00

abstract：:Systemic sclerosis-associated with pulmonary arterial hypertension (SSc-PAH) is still a major cause of SSc related deaths. Early diagnosis and prompt treatment are crucial to reduce the mortality of patients with SSc-PAH. To screen the candidate biomarkers and potential therapeutic targets for SSc-PAH, we analyzed the...

journal_title：Frontiers in genetics

authors： Zheng JN,Li Y,Yan YM,Shi H,Zou TT,Shao WQ,Wang Q

更新日期：2020-07-24 00:00:00

abstract：:Challenges in diagnosing primary immunodeficiency are numerous and diverse, with current whole-exome and whole-genome sequencing approaches only able to reach a molecular diagnosis in 25-60% of cases. We assess these problems and discuss how RNA-focused analysis has expanded and improved in recent years and may now be...

journal_title：Frontiers in genetics

authors： Lye JJ,Williams A,Baralle D

更新日期：2019-12-11 00:00:00

abstract：:In this case report, we characterize a novel inherited frameshift mutation c.4700_4701del (p.Phe1567Cysfs*221) in a single copy of the SCN5A gene and its association with Brugada syndrome (BrS). The proband experienced a life-threatening ventricular arrhythmia successfully treated with DC-shock and he also suffered fr...

journal_title：Frontiers in genetics

authors： Micaglio E,Monasky MM,Ciconte G,Vicedomini G,Conti M,Mecarocci V,Giannelli L,Giordano F,Pollina A,Saviano M,Pozzi PR,Di Resta C,Benedetti S,Ferrari M,Santinelli V,Pappone C

更新日期：2019-06-06 00:00:00

abstract：:The identification of functional modules in gene interaction networks is a key step in understanding biological processes. Network interpretation is essential for unveiling biological mechanisms, candidate biomarkers, or potential targets for drug discovery/repositioning. Plenty of biological module identification alg...

journal_title：Frontiers in genetics

authors： Nazzicari N,Vella D,Coronnello C,Di Silvestre D,Bellazzi R,Marini S

更新日期：2019-10-09 00:00:00

abstract：:[This corrects the article on p. 102 in vol. 6, PMID: 25852744.]. ...

journal_title：Frontiers in genetics

authors： Brito S,Thompson K,Campistol J,Colomer J,Hardy SA,He L,Fernández-Marmiesse A,Palacios L,Jou C,Jiménez-Mallebrera C,Armstrong J,Montero R,Artuch R,Tischner C,Wenz T,McFarland R,Taylor RW

更新日期：2015-07-28 00:00:00

abstract：:Nanopore sequencing from Oxford Nanopore Technologies (ONT) and Pacific BioSciences (PacBio) single-molecule real-time (SMRT) long-read isoform sequencing (Iso-Seq) are revolutionizing the way transcriptomes are analyzed. These methods offer many advantages over most widely used high-throughput short-read RNA sequenci...

journal_title：Frontiers in genetics

authors： Zhao L,Zhang H,Kohnen MV,Prasad KVSK,Gu L,Reddy ASN

更新日期：2019-03-21 00:00:00

abstract：:Long noncoding RNAs (lncRNAs) are a novel class of RNA molecules defined as transcripts longer than 200 nucleotides that lack protein coding potential. They constitute a major, but still poorly characterized part of human transcriptome, however, evidence is growing that they are important regulatory molecules involved...

journal_title：Frontiers in genetics

authors： Yarmishyn AA,Kurochkin IV

更新日期：2015-04-23 00:00:00

abstract：:In light of the complex nature of multiple sclerosis (MS) and the recently estimated contribution of low-frequency variants into disease, decoding its genetic risk components requires novel variant prioritization strategies. We selected, by reviewing MS Genome Wide Association Studies (GWAS), 107 candidate loci marked...

journal_title：Frontiers in genetics

authors： Ziliotto N,Marchetti G,Scapoli C,Bovolenta M,Meneghetti S,Benazzo A,Lunghi B,Balestra D,Laino LA,Bozzini N,Guidi I,Salvi F,Straudi S,Gemmati D,Menegatti E,Zamboni P,Bernardi F

更新日期：2019-06-26 00:00:00

abstract：:Prolonged drug use causes long-lasting neuroadaptations in reward-related brain areas that contribute to addiction. Despite significant amount of research dedicated to understanding the underlying mechanisms of addiction, the molecular underpinnings remain unclear. At the same time, much of the pervasive transcription...

journal_title：Frontiers in genetics

authors： Sartor GC,St Laurent G 3rd,Wahlestedt C

更新日期：2012-06-22 00:00:00

abstract：:Previous efforts to characterize conservation between the human and mouse genomes focused largely on sequence comparisons. These studies are inherently limited because they don't account for gene structure differences, which may exist despite genomic sequence conservation. Recent high-throughput transcriptome studies ...

journal_title：Frontiers in genetics

authors： Wood EJ,Chin-Inmanu K,Jia H,Lipovich L

更新日期：2013-09-26 00:00:00

abstract：:In recent years, studies have shown that phytopathogenic fungi possess the ability of cross-kingdom regulation of host plants through small RNAs (sRNAs). Magnaporthe oryzae, a causative agent of rice blast, introduces disease by penetrating the rice tissues through appressoria. However, little is known about the trans...

journal_title：Frontiers in genetics

authors： Zhang H,Liu S,Chang H,Zhan M,Qin QM,Zhang B,Li Z,Liu Y

更新日期：2019-03-29 00:00:00

abstract：:Colorectal cancer (CRC) is one of the leading causes of cancer-related deaths worldwide and is derived from an accumulation of genetic and epigenetic changes. This study explored potential prognostic markers in CRC via the construction and in-depth analysis of a competing endogenous RNA (ceRNA) network, which was gene...

journal_title：Frontiers in genetics

authors： Guo L,Yang G,Kang Y,Li S,Duan R,Shen L,Jiang W,Qian B,Yin Z,Liang T

更新日期：2020-05-08 00:00:00

abstract：:It is critical for patients who cannot undergo eradicable surgery to predict the risk of lung cancer recurrence and metastasis; therefore, the physicians can design the appropriate adjuvant therapy plan. However, traditional circulating tumor cell (CTC) detection or next-generation sequencing (NGS)-based methods are u...

journal_title：Frontiers in genetics

authors： Wu Z,Wang L,Li C,Cai Y,Liang Y,Mo X,Lu Q,Dong L,Liu Y

更新日期：2020-08-25 00:00:00

abstract：:Plant basic helix-loop-helix (bHLH) transcription factors are involved in the regulation of various biological processes in plant growth, development, and stress response. However, members of this important transcription factor family have not been systematically identified and analyzed in pepper (Capsicum annuum L.)....

journal_title：Frontiers in genetics

authors： Zhang Z,Chen J,Liang C,Liu F,Hou X,Zou X

更新日期：2020-09-25 00:00:00

abstract：:Brugada syndrome (BrS) is a heritable disease that results in sudden cardiac death. In the exome/genomic era, certain reported pathogenic variants in some genetic diseases have been reclassified as benign owing to their high frequency in some ancestries. In the present study, we comprehensively reassessed all previous...

journal_title：Frontiers in genetics

authors： Chen CJ,Lu TP,Lin LY,Liu YB,Ho LT,Huang HC,Lai LP,Hwang JJ,Yeh SS,Wu CK,Juang JJ,Antzelevitch C

更新日期：2019-01-04 00:00:00

abstract：:Commensal gut bacteria in many species including flies are integral part of their host, and are known to influence its development and homeostasis within generation. Here we report an unexpected impact of host-microbe interactions, which mediates multi-generational, non-Mendelian inheritance of a stress-induced phenot...

journal_title：Frontiers in genetics

authors： Fridmann-Sirkis Y,Stern S,Elgart M,Galili M,Zeisel A,Shental N,Soen Y

更新日期：2014-02-25 00:00:00

abstract：:Most cell functions are carried out by interacting factors, thus underlying the functional importance of genetic interactions between genes, termed epistasis. Epistasis could be under strong selective pressures especially in conditions where the mutation rate of one of the interacting partners notably differs from the...

journal_title：Frontiers in genetics

authors： Levin L,Blumberg A,Barshad G,Mishmar D

更新日期：2014-12-23 00:00:00

abstract：:Myiopsitta monachus is a small Neotropical parrot (Psittaciformes: Arini Tribe) from subtropical and temperate regions of South America. It has a diploid chromosome number 2n = 48, different from other members of the Arini Tribe that have usually 70 chromosomes. The species has the lowest 2n within the Arini Tribe. In...

journal_title：Frontiers in genetics

authors： Furo IO,Kretschmer R,O'Brien PC,Pereira JC,Garnero ADV,Gunski RJ,O'Connor RE,Griffin DK,Gomes AJB,Ferguson-Smith MA,de Oliveira EHC

更新日期：2020-07-10 00:00:00

abstract：:The principles and function of chromatin and nuclear architecture have been extensively studied in model organisms, such as Drosophila melanogaster. However, little is known about the role of these epigenetic processes in transcriptional regulation in other insects including mosquitoes, which are major disease vectors...

journal_title：Frontiers in genetics

authors： Lezcano ÓM,Sánchez-Polo M,Ruiz JL,Gómez-Díaz E

更新日期：2020-12-07 00:00:00

abstract：:In recent years, there has been an explosive increase in the amount of bioinformatics data produced, but data are not information. The purpose of bioinformatics research is to obtain information with biological significance from large amounts of data. Multiple sequence alignment is widely used in sequence homology det...

journal_title：Frontiers in genetics

authors： Shi H,Zhang X

更新日期：2020-02-27 00:00:00