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

abstract：:In 1994, it was suggested that AGG interruptions affect the stability of the fragile X triplet repeat. Until recently, however, this hypothesis was not explored on a large scale due primarily to the technical difficulty of determining AGG interruption patterns of the two alleles in females. The recent development of a...

journal_title：Frontiers in genetics

authors： Latham GJ,Coppinger J,Hadd AG,Nolin SL

更新日期：2014-07-29 00:00:00

abstract：:As one of the hotspot regions for sympatric speciation studies, Evolution Canyon (EC) became an ideal place for its high level of microclimatic divergence interslopes. In this study, to highlight the genetic mechanisms of sympatric speciation, phenotypic variation on flowering time and transcriptomic divergence were i...

journal_title：Frontiers in genetics

authors： Qian C,Yan X,Yin H,Fan X,Yin X,Sun P,Li Z,Nevo E,Ma XF

更新日期：2018-11-14 00:00:00

abstract：:The development of whole-genome bisulfite sequencing (WGBS) has resulted in a number of exciting discoveries about the role of DNA methylation leading to a plethora of novel testable hypotheses. Methods for constructing sodium bisulfite-converted and amplified libraries have recently advanced to the point that the bot...

journal_title：Frontiers in genetics

authors： Ji L,Sasaki T,Sun X,Ma P,Lewis ZA,Schmitz RJ

更新日期：2014-10-21 00:00:00

abstract：:While substantial progress has been made in finding genetic variants associated with nicotine dependence (ND), a large proportion of the genetic variants remain undiscovered. The current research focuses have shifted toward uncovering rare variants, gene-gene/gene-environment interactions, and structural variations pr...

journal_title：Frontiers in genetics

authors： Zhang X,Lan T,Wang T,Xue W,Tong X,Ma T,Liu G,Lu Q

更新日期：2019-05-17 00:00:00

abstract：:Autosomal dwarfism (adw) in chickens is a growth deficiency caused by a recessive mutation. Characteristic for adw is an approximately 30% growth reduction with short shank. The adw variant was first recognized in the Cornell K-strain of White Leghorns, but the genetic causal variant remained unknown. To identify the ...

journal_title：Frontiers in genetics

authors： Wu Z,Derks MFL,Dibbits B,Megens HJ,Groenen MAM,Crooijmans RPMA

更新日期：2018-06-07 00:00:00

abstract：:Hereditary spastic paraplegias (HSPs) is a rare heterogeneous group of neurodegenerative diseases, with upper and lower limb spasticity motor neuron disintegration leading to paraplegias. NT5C2 gene (OMIM: 600417) encode a hydrolase enzyme 5'-nucleotidase, cytosolic II play an important role in maintaining the balance...

journal_title：Frontiers in genetics

authors： Naseer MI,Abdulkareem AA,Pushparaj PN,Bibi F,Chaudhary AG

更新日期：2020-02-21 00:00:00

abstract：:In Colchester, Britain's oldest recorded town, during the Roman period there were areas which were clearly used solely as cemeteries. One of the most significant is at Butt Road, which includes a late Roman probable Christian cemetery with an associated building, apparently a church, that overlies and developed from a...

journal_title：Frontiers in genetics

authors： Voong CP,Spencer PS,Navarrete CV,Turner D,Hayrabedyan SB,Crummy P,Holloway E,Wilson MT,Smith PR,Fernández N

更新日期：2017-12-05 00:00:00

abstract：:Aberrant, misfolded, and mislocalized proteins are often toxic to cells and result in many human diseases. All proteins and their mRNA templates are subject to quality control. There are several distinct mechanisms that control the quality of mRNAs and proteins during translation at the ribosome. mRNA quality control ...

journal_title：Frontiers in genetics

authors： Karamyshev AL,Karamysheva ZN

更新日期：2018-10-04 00:00:00

abstract：:Mixed strain infection (MSI) refers to the concurrent infection of a susceptible host with multiple strains of a single pathogenic species. Known to occur in humans and animals, MSIs deserve special consideration when studying transmission dynamics, evolution, and treatment of mycobacterial diseases, notably tuberculo...

journal_title：Frontiers in genetics

authors： Byrne AS,Goudreau A,Bissonnette N,Shamputa IC,Tahlan K

更新日期：2020-12-21 00:00:00

abstract：:We report on three new patients with spondyloocular syndrome (SOS) in a consanguineous Pakistani family. All three patients present progressive generalized osteoporosis, short stature, recurrent fractures, hearing loss and visual impairments. WES revealed a novel homozygous frameshift variant in exon 11 of XYLT2 (NG 0...

journal_title：Frontiers in genetics

authors： Kausar M,Chew EGY,Ullah H,Anees M,Khor CC,Foo JN,Makitie O,Siddiqi S

更新日期：2019-03-05 00:00:00

abstract：:Extensively raised village chickens are considered a valuable source of biodiversity, with genetic variability developed over thousands of years that ought to be characterized and utilized. Surveys that can reveal a population's genetic structure and provide an insight into its demographic history will give valuable i...

journal_title：Frontiers in genetics

authors： Khanyile KS,Dzomba EF,Muchadeyi FC

更新日期：2015-02-03 00:00:00

abstract：:Zeng et al. (2005) proposed a general two-allele (G2A) model to model bi-allelic quantitative trait loci (QTL). Comparing with the classical Fisher model, the G2A model can avoid using redundant parameters and be fitted directly using standard least square (LS) approach. In this study, we further extend the G2A model ...

journal_title：Frontiers in genetics

authors： Wang T

更新日期：2014-09-25 00:00:00

abstract：:Growing evidences have indicated that microRNAs (miRNAs) play a significant role relating to many important bioprocesses; their mutations and disorders will cause the occurrence of various complex diseases. The prediction of miRNAs associated with underlying diseases via computational approaches is beneficial to ident...

journal_title：Frontiers in genetics

authors： Zhang Y,Chen M,Cheng X,Wei H

更新日期：2020-04-30 00:00:00

abstract：:The primary cilium is able to maintain a specific protein composition, which is critical for its function as a signaling organelle. Here we introduce a system to synchronize biosynthetic trafficking of ciliary proteins that is based on conditional aggregation domains (CADs). This approach enables to create a wave of c...

journal_title：Frontiers in genetics

authors： Stroukov W,Rösch A,Schwan C,Jeney A,Römer W,Thuenauer R

更新日期：2019-03-08 00:00:00

abstract：:Vitamin D receptor (VDR) gene polymorphisms were reported to influence blood lead levels (BLL) and the response of subjects to the symptoms of lead toxicity. However, no studies have been conducted in the Saudi Arabian population which has unique ethnicity and socio-demographic features. This study examined the polymo...

journal_title：Frontiers in genetics

authors： Shaik AP,Alsaeed AH,Faiyaz-Ul-Haque M,Alsaeed MA,Alyousef AA,Bammidi VK,Shaik AS

更新日期：2019-04-26 00:00:00

abstract：:Tumorigenesis is a multi-step process, involving the acquisition of multiple oncogenic mutations that transform cells, resulting in systemic dysregulation that enables proliferation, invasion, and other cancer hallmarks. The goal of precision medicine is to identify therapeutically-actionable mutations from large-scal...

journal_title：Frontiers in genetics

authors： Laderas TG,Heiser LM,Sönmez K

更新日期：2015-12-23 00:00:00

abstract：:Network propagation is a central tool in biological research. While a number of variants and normalizations have been proposed for this method, each has its own shortcomings and no large scale assessment of those variants is available. Here we propose a novel normalization method for network propagation that is based ...

journal_title：Frontiers in genetics

authors： Biran H,Kupiec M,Sharan R

更新日期：2019-01-22 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：:The arrangement of chromatin within interphase nuclei seems to be caused by topological constraints and related to gene expression depending on tissue and developmental stage. In yeast and animals it was found that homologous and heterologous chromatin association are required to realize faithful expression and DNA re...

journal_title：Frontiers in genetics

authors： Schubert V,Rudnik R,Schubert I

更新日期：2014-11-13 00:00:00

abstract：:Muscle weakness is a common consequence of both aging (sarcopenia) and neuromuscular disorders (NMD). Whilst genome-wide association (GWA) studies have identified genetic variants associated with grip strength (GS; measure of muscle strength/weakness) and NMDs, including multiple sclerosis (MS), myasthenia gravis (MG)...

journal_title：Frontiers in genetics

authors： Gokuladhas S,Schierding W,Cameron-Smith D,Wake M,Scotter EL,O'Sullivan J

更新日期：2020-04-24 00:00:00

abstract：:Carcass weight, meat quality and muscle components are important traits economically and they underpin most of the commercial return to goat producers. In this study, the Longissimus dorsi muscle tissues were collected from five Liaoning cashmere (LC) goats and five Ziwuling black (ZB) goats with phenotypic difference...

journal_title：Frontiers in genetics

authors： Shen J,Hao Z,Wang J,Hu J,Liu X,Li S,Ke N,Song Y,Lu Y,Hu L,Qiao L,Wu X,Luo Y

更新日期：2021-01-13 00:00:00

abstract：:Erythropoiesis of human hematopoietic stem cells (HSCs) maintains generation of red blood cells throughout life. However, little is known how human erythropoiesis is regulated by long non-coding RNAs (lncRNAs). By using ChIRP-seq, we report here that the lncRNA steroid receptor RNA activator (SRA) occupies chromatin, ...

journal_title：Frontiers in genetics

authors： Sawaengdee W,Cui K,Zhao K,Hongeng S,Fucharoen S,Wongtrakoongate P

更新日期：2020-08-11 00:00:00

abstract：:Hepatocellular carcinoma (HCC) remains hard to diagnose early and cure due to a lack of accurate biomarkers and effective treatments. Hence, it is necessary to explore the tumorigenesis and tumor progression of HCC to discover new biomarkers for clinical treatment. We performed weighted gene co-expression network anal...

journal_title：Frontiers in genetics

authors： Gu Y,Li J,Guo D,Chen B,Liu P,Xiao Y,Yang K,Liu Z,Liu Q

更新日期：2020-02-28 00:00:00

abstract：:Understanding the molecular basis of cell function and ultimate phenotypes is crucial for the development of biological markers. With this aim, several RNA-seq studies have been devoted to the characterization of the transcriptome of ejaculated spermatozoa in relation to sperm quality and fertility. Semen quality foll...

journal_title：Frontiers in genetics

authors： Gòdia M,Estill M,Castelló A,Balasch S,Rodríguez-Gil JE,Krawetz SA,Sánchez A,Clop A

更新日期：2019-04-16 00:00:00

abstract：:Circadian rhythms produce a biological measure of the time of day. In plants, circadian regulation forms an essential adaptation to the fluctuating environment. Most of our knowledge of the molecular aspects of circadian regulation in plants is derived from laboratory experiments that are performed under controlled co...

journal_title：Frontiers in genetics

authors： Panter PE,Muranaka T,Cuitun-Coronado D,Graham CA,Yochikawa A,Kudoh H,Dodd AN

更新日期：2019-11-29 00:00:00

abstract：:Molybdenum cofactor deficiency (MoCD) is an autosomal recessive disorder belonging to the large family of inborn errors in metabolism. Patients typically present with encephalopathy and seizures early after birth and develop severe neurodegeneration within the first few weeks of life. The main pathomechanism underlyin...

journal_title：Frontiers in genetics

authors： Mellis AT,Roeper J,Misko AL,Kohl J,Schwarz G

更新日期：2021-01-07 00:00:00

abstract：:The goal of this work was to determine the effect of nonablative syngeneic transplantation of young bone marrow (BM) to laboratory animals (mice) of advanced age upon maximum duration of their lifespan. To do this, transplantation of 100 million nucleated cells from BM of young syngeneic donors to an old nonablated an...

journal_title：Frontiers in genetics

authors： Kovina MV,Karnaukhov AV,Krasheninnikov ME,Kovin AL,Gazheev ST,Sergievich LA,Karnaukhova EV,Bogdanenko EV,Balyasin MV,Khodarovich YM,Dyuzheva TG,Lyundup AV

更新日期：2019-04-12 00:00:00

abstract：:The coronavirus disease 2019 (COVID-19) pandemic caused by SARS-CoV-2 (severe acute respiratory syndrome coronavirus 2) has become a global public health emergency. G-quadruplex, one of the non-canonical secondary structures, has shown potential antiviral values. However, little is known about the G-quadruplexes of th...

journal_title：Frontiers in genetics

authors： Zhang R,Xiao K,Gu Y,Liu H,Sun X

更新日期：2020-11-27 00:00:00

abstract：:The concept of Developmental Origins of Health and Diseases (DOHaD) recognizes that an unfavorable maternal environment alters the developmental trajectory of the fetus and can lead to long-term risk of developing chronic noncommunicable diseases. More recently, the concept of a paternal transmission [Paternal Origins...

journal_title：Frontiers in genetics

authors： Dupont C,Kappeler L,Saget S,Grandjean V,Lévy R

更新日期：2019-04-18 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