EXT1 and EXT2 Variants in 22 Chinese Families With Multiple Osteochondromas: Seven New Variants and Potentiation of Preimplantation Genetic Testing and Prenatal Diagnosis.

abstract：:Lumbar disc degeneration (LDD) is age-related break-down in the fibrocartilaginous joints between lumbar vertebrae. It is a major cause of low back pain and is conventionally assessed by magnetic resonance imaging (MRI). Like most other complex traits, LDD is likely polygenic and influenced by both genetic and environ...

journal_title：Frontiers in genetics

authors： Zhou X,Cheung CL,Karasugi T,Karppinen J,Samartzis D,Hsu YH,Mak TS,Song YQ,Chiba K,Kawaguchi Y,Li Y,Chan D,Cheung KM,Ikegawa S,Cheah KS,Sham PC

更新日期：2018-08-03 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：:Introduction: Human satellite DNA is organized in long arrays in peri/centromeric heterochromatin. There is little information about satellite copy number variants (CNVs) in aging and replicative cell senescence (RS). Materials and Methods: Biotinylated pUC1.77 probe was used for the satellite III (f-SatIII) quantitat...

journal_title：Frontiers in genetics

authors： Ershova ES,Malinovskaya EM,Konkova MS,Veiko RV,Umriukhin PE,Martynov AV,Kutsev SI,Veiko NN,Kostyuk SV

更新日期：2019-08-07 00:00:00

abstract：:Understanding the processes that cause speciation is a key aim of evolutionary biology. Lineages or biomes that exhibit recent and rapid diversification are ideal model systems for determining these processes. Species rich biomes reported to be of relatively recent origin, i.e., since the beginning of the Miocene, inc...

journal_title：Frontiers in genetics

authors： Madriñán S,Cortés AJ,Richardson JE

更新日期：2013-10-09 00:00:00

abstract：:A rapidly increasing number of reports on dysregulated long intergenic non-coding RNA (lincRNA) expression across numerous types of cancers indicates that aberrant lincRNA expression may be a major contributor to tumorigenesis. Marek's disease (MD) is a T cell lymphoma of chickens induced by Marek's disease virus (MDV...

journal_title：Frontiers in genetics

authors： He Y,Han B,Ding Y,Zhang H,Chang S,Zhang L,Zhao C,Yang N,Song J

更新日期：2019-11-14 00:00:00

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：:Tolerance to infections is defined as the ability of a host to limit the impact of a given pathogen burden on host performance. Uncoupling resistance and tolerance is a challenge, and there is a need to be able to separate them using specific trait recording or statistical methods. We present three statistical methods...

journal_title：Frontiers in genetics

authors： Kause A,Odegård J

更新日期：2012-12-14 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：:Leaf rust, caused by Puccinia triticina (Pt), is one of the most devastating diseases of wheat, affecting production in nearly all wheat-growing regions worldwide. Despite its economic importance, genomic resources for Pt are very limited. In the present study, we have used long-read sequencing (LRS) and the pipeline ...

journal_title：Frontiers in genetics

authors： Wu JQ,Dong C,Song L,Park RF

更新日期：2020-06-04 00:00:00

abstract：:Although bipolar disorder (BP) is one of the most heritable psychiatric conditions, susceptibility genes for the disorder have yet to be conclusively identified. It is likely that variants in multiple genes across multiple pathways contribute to the genotype-phenotype relationship in the affected population. Recent ev...

journal_title：Frontiers in genetics

authors： Judy JT,Zandi PP

更新日期：2013-06-11 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：:In this study, we examined whether smoking and drinking affect sperm quality and the DNA methylation of the repetitive element LINE-1, MEST, P16, H19, and GNAS in sperm. Semen samples were obtained from 143 male residents in a minority-inhabited district of Guizhou province in southwest China. Quantitative DNA methyla...

journal_title：Frontiers in genetics

authors： Zhang W,Li M,Sun F,Xu X,Zhang Z,Liu J,Sun X,Zhang A,Shen Y,Xu J,Miao M,Wu B,Yuan Y,Huang X,Shi H,Du J

更新日期：2019-10-18 00:00:00

abstract：:Measuring facial traits by quantitative means is a prerequisite to investigate epidemiological, clinical, and forensic questions. This measurement process has received intense attention in recent years. We divided this process into the registration of the face, landmarking, morphometric quantification, and dimension r...

journal_title：Frontiers in genetics

authors： Böhringer S,de Jong MA

更新日期：2019-05-24 00:00:00

abstract：:After the genomic era, the development of high-throughput sequencing technologies has allowed us to advance our understanding of genetic variants responsible for adaptation to high altitude in humans. However, transcriptomic characteristics associated with phenotypic plasticity conferring tolerance to acute hypobaric ...

journal_title：Frontiers in genetics

authors： Yasukochi Y,Shin S,Wakabayashi H,Maeda T

更新日期：2020-09-08 00:00:00

abstract：:With the gradual development of intelligence, human got curious to know his origin and evolutionary background. Historical statements and anthropological findings were his primary tool for solving the puzzles of his own origin, until came the golden era of molecular markers which took no time to prove it's excellence ...

journal_title：Frontiers in genetics

authors： Guha P,Srivastava SK,Bhattacharjee S,Chaudhuri TK

更新日期：2013-08-09 00:00:00

abstract：:Behavioral and cognitive traits have a genetic component even though contributions from individual genes and genomic loci are in many cases modest. Changes in the environment can alter genotype-phenotype relationships. Space travel, which includes exposure to ionizing radiation, constitutes environmental challenges an...

journal_title：Frontiers in genetics

authors： Iancu OD,Boutros SW,Olsen RHJ,Davis MJ,Stewart B,Eiwaz M,Marzulla T,Belknap J,Fallgren CM,Edmondson EF,Weil MM,Raber J

更新日期：2018-10-09 00:00:00

abstract：:The goal of any plant breeding program is to improve quality of a target crop. Crop quality is a comprehensive feature largely determined by biological background. To improve the quality parameters of crops grown for the production of fiber, a functional approach was used to search for genes suitable for the effective...

journal_title：Frontiers in genetics

authors： Galinousky D,Mokshina N,Padvitski T,Ageeva M,Bogdan V,Kilchevsky A,Gorshkova T

更新日期：2020-11-12 00:00:00

abstract：:Fast growth is one of the most desired traits for all food animals, which affects the profitability of animal production. The Pacific oyster, Crassostrea gigas, is an important aquaculture shellfish around the world with the largest annual production. Growth of the Pacific oyster has been greatly improved by artificia...

journal_title：Frontiers in genetics

authors： Zhang F,Hu B,Fu H,Jiao Z,Li Q,Liu S

更新日期：2019-06-28 00:00:00

abstract：:DNA methylation is an indispensable epigenetic modification that dynamically regulates gene expression and genome stability during cell growth and development processes. The target of rapamycin (TOR) has emerged as a central regulator to regulate many fundamental cellular metabolic processes from protein synthesis to ...

journal_title：Frontiers in genetics

authors： Zhu T,Li L,Feng L,Mo H,Ren M

更新日期：2020-03-03 00:00:00

abstract：:Background: There is a continued debate and inconsistent findings in previous literature about the relationship of catechol-O-methyltransferase (COMT) and Parkinson's disease (PD) susceptibility as well as cognitive dysfunction. To substantiate this existing gap, we comprehensively examine COMT genotype effects on the...

journal_title：Frontiers in genetics

authors： Tang C,Wang W,Shi M,Zhang N,Zhou X,Li X,Ma C,Chen G,Xiang J,Gao D

更新日期：2019-07-12 00:00:00

abstract：:Domestication to captive rearing conditions, along with targeted selective breeding have genetic consequences that vary from those in wild environments. Nile tilapia (Oreochromis niloticus) is one of the most translocated and farmed aquaculture species globally, farmed throughout Asia, North and South America, and its...

journal_title：Frontiers in genetics

authors： Nayfa MG,Jones DB,Benzie JAH,Jerry DR,Zenger KR

更新日期：2020-10-15 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：:The often-used A(C)E model that decomposes phenotypic variance into parts due to additive genetic and environmental influences can be extended to a longitudinal model when the trait has been assessed at multiple occasions. This enables inference about the nature (e.g., genetic or environmental) of the covariance among...

journal_title：Frontiers in genetics

authors： Schwabe I,Gu Z,Tijmstra J,Hatemi P,Pohl S

更新日期：2019-10-16 00:00:00

abstract：:Variability of the comet assay is a serious issue, whether it occurs from experiment to experiment in the same laboratory, or between different laboratories analysing identical samples. Do we have to live with high variability, just because the comet assay is a biological assay rather than analytical chemistry? Numero...

journal_title：Frontiers in genetics

authors： Collins AR,El Yamani N,Lorenzo Y,Shaposhnikov S,Brunborg G,Azqueta A

更新日期：2014-10-20 00:00:00

abstract：:Somatic alterations in the epidermal growth factor receptor gene (EGFR) result in aberrant activation of kinase signaling and occur in ∼15% of non-small cell lung cancers (NSCLC). Patients diagnosed with EGFR-mutant NSCLC have good initial clinical response to EGFR tyrosine kinase inhibitors (EGFR TKIs), yet tumor rec...

journal_title：Frontiers in genetics

authors： Shaurova T,Zhang L,Goodrich DW,Hershberger PA

更新日期：2020-03-27 00:00:00

abstract：:Staphylococcus epidermidis is one of the most commonly isolated species from human skin and the second leading cause of bloodstream infections. Here, we performed a large-scale comparative study without any pre-assigned reference to identify genomic determinants associated with the diversity and adaptation of S. epide...

journal_title：Frontiers in genetics

authors： Su F,Tian R,Yang Y,Li H,Sun G,Li Y,Han B,Xu X,Chen X,Zhao G,Cui H,Xu H

更新日期：2020-11-09 00:00:00

abstract：:Genotype imputation is a powerful tool for increasing statistical power in an association analysis. Meta-analysis of multiple study datasets also requires a substantial overlap of SNPs for a successful association analysis, which can be achieved by imputation. Quality of imputed datasets is largely dependent on the so...

journal_title：Frontiers in genetics

authors： Schurz H,Müller SJ,van Helden PD,Tromp G,Hoal EG,Kinnear CJ,Möller M

更新日期：2019-02-05 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：:Glioblastoma (GBM) is characterized by rapid and lethal infiltration of brain tissue, which is the primary cause of treatment failure and deaths for GBM. Therefore, understanding the molecular mechanisms of tumor cell invasion is crucial for the treatment of GBM. In this study, we dissected the single-cell RNA-seq dat...

journal_title：Frontiers in genetics

authors： Pang B,Quan F,Ping Y,Hu J,Lan Y,Pang L

更新日期：2021-01-11 00:00:00

abstract：:MicroRNAs (miRNAs) are small non-coding RNA molecules that play key regulatory roles in cancer acting as both oncogenes and tumor suppressors. Due to their potential roles in improving cancer prognostic, predictive, diagnostic and therapeutic approaches, they have become an area of intense research focus in recent yea...

journal_title：Frontiers in genetics

authors： Macharia LW,Wanjiru CM,Mureithi MW,Pereira CM,Ferrer VP,Moura-Neto V

更新日期：2019-02-20 00:00:00