Quality control on the frontier.

abstract：:Genome-wide association study (GWAS), exploring the historical and evolutionary recombinations at the population level, is a major method adopted to identify quantitative trait loci (QTL) for complex traits. However, to summarize GWAS results, gene structure, and linkage disequilibrium (LD) in a single view, multiple ...

journal_title：Frontiers in genetics

authors： He F,Ding S,Wang H,Qin F

更新日期：2020-03-20 00:00:00

abstract：:Rheumatoid arthritis (RA) is a complex disease triggered by the interaction between genetics and the environment, especially through the shared epitope (SE) and cell surface calreticulin (CSC) theory. However, the available evidence shows that genetic diversity and environmental exposure cannot explain all the clinica...

journal_title：Frontiers in genetics

authors： Guo S,Xu L,Chang C,Zhang R,Jin Y,He D

更新日期：2020-08-04 00:00:00

abstract：:Software which simulates, infers, or analyzes ancestral recombination graphs (ARGs) faces the problem of communicating them. Existing formats omit information either about the location of recombinations along the chromosome or the position of recombinations relative to the branching topology. We present a specializati...

journal_title：Frontiers in genetics

authors： McGill JR,Walkup EA,Kuhner MK

更新日期：2013-08-07 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：:The aging of the population represents one of the largest healthcare challenges facing the world today. The available scientific evidence shows that interventions are available now that can target fundamental "aging" processes or pathways. Sufficient economic evidence is available to argue convincingly that this appro...

journal_title：Frontiers in genetics

authors： Faragher RG

更新日期：2015-07-14 00:00:00

abstract：:This study examined reasons for participation in a genetic study of risk for multiple sclerosis (MS). Our sample consisted of 101 patients diagnosed with MS who were approached about enrolling in the Multiple Sclerosis Genetic Susceptibility Study. Participants were predominantly Hispanic (80%), female (80%), and well...

journal_title：Frontiers in genetics

authors： Cuccaro ML,Manrique CP,Quintero MA,Martinez R,McCauley JL

更新日期：2020-03-13 00:00:00

abstract：:For the past several decades, research in understanding the molecular basis of human muscle aging has progressed significantly. However, the development of accessible tissue-specific biomarkers of human muscle aging that may be measured to evaluate the effectiveness of therapeutic interventions is still a major challe...

journal_title：Frontiers in genetics

authors： Mamoshina P,Volosnikova M,Ozerov IV,Putin E,Skibina E,Cortese F,Zhavoronkov A

更新日期：2018-07-12 00:00:00

abstract：:Undergraduate students in the biomedical sciences are often interested in future health-focused careers. This presents opportunities for instructors in genetics, molecular biology, and cancer biology to capture their attention using lab experiences built around clinically relevant data. As biomedical science in genera...

journal_title：Frontiers in genetics

authors： Hankey W,Zanghi N,Crow MM,Dow WH,Kratz A,Robinson AM,Robinson MR,Segarra VA

更新日期：2020-12-16 00:00:00

abstract：:Across species and tissues and especially in the mammalian brain, production of gene isoforms is widespread. While gene expression coordination has been previously described as a scale-free coexpression network, the properties of transcriptome-wide isoform production coordination have been less studied. Here we evalua...

journal_title：Frontiers in genetics

authors： Iancu OD,Colville A,Oberbeck D,Darakjian P,McWeeney SK,Hitzemann R

更新日期：2015-05-13 00:00:00

abstract：:Mutations in CHD7 have been shown to be a major cause of CHARGE syndrome, which presents many symptoms and features common to other syndromes making its diagnosis difficult. Next generation sequencing (NGS) of a panel of intellectual disability related genes was performed in an adult patient without molecular diagnosi...

journal_title：Frontiers in genetics

authors： Villate O,Ibarluzea N,Fraile-Bethencourt E,Valenzuela A,Velasco EA,Grozeva D,Raymond FL,Botella MP,Tejada MI

更新日期：2018-01-26 00:00:00

abstract：:Our ability to overcome the challenges behind metabolic disorders will require a detailed understanding of the regulation of responses to nutrition. The Creb3 transcription factor family appears to have a unique regulatory role that links cellular secretory capacity with development, nutritional state, infection, and ...

journal_title：Frontiers in genetics

authors： Khan HA,Margulies CE

更新日期：2019-06-21 00:00:00

abstract：:Advances in technology have made it convenient to obtain a large amount of single cell RNA sequencing (scRNA-seq) data. Since that clustering is a very important step in identifying or defining cellular phenotypes, many clustering approaches have been developed recently for these applications. The general methods can ...

journal_title：Frontiers in genetics

authors： Zhu Y,Zhang DX,Zhang XF,Yi M,Ou-Yang L,Wu M

更新日期：2020-11-04 00:00:00

abstract：:Familial hemophagocytic lymphohistiocytosis Type 2 (FHL2) associated central nervous system (CNS) involvement is less understood in children, especially when considering neurologic manifestations as part of the initial presentation. We conducted a retrospective review of the clinical manifestations and genetic abnorma...

journal_title：Frontiers in genetics

authors： Feng WX,Yang XY,Li JW,Gong S,Wu Y,Zhang WH,Han TL,Zhuo XW,Ding CH,Fang F

更新日期：2020-03-04 00:00:00

abstract：:Fragile-X syndrome is one of the most common forms of inherited mental retardation and autistic behaviors. The reduction/absence of the functional FMRP protein, coded by the X-linked Fmr1 gene in humans, is responsible for the syndrome. Patients exhibit a variety of symptoms predominantly linked to the function of FMR...

journal_title：Frontiers in genetics

authors： Specchia V,Puricella A,D'Attis S,Massari S,Giangrande A,Bozzetti MP

更新日期：2019-02-13 00:00:00

abstract：:There is a paradigm shift from the traditional focus on the "average" individual towards the definition and analysis of trait variation within individual life-history and among individuals in populations. This is a result of increasing availability of individual phenotypic data. The shift allows the use of genetic and...

journal_title：Frontiers in genetics

authors： Filipe JAN,Kyriazakis I

更新日期：2019-09-20 00:00:00

abstract：:von Hippel-Lindau (VHL) disease is a hereditary cancer syndrome with poor survival. The current recommendations have proposed uniform surveillance strategies for all patients, neglecting the obvious phenotypic varieties. In this study, we aim to confirm the phenotypic heterogeneity in VHL disease and the underlying me...

journal_title：Frontiers in genetics

authors： Wang J,Peng X,Chen C,Ning X,Peng S,Li T,Liu S,Hong B,Zhou J,Ma K,Cai L,Gong K

更新日期：2019-04-24 00:00:00

abstract：:To gain a detailed understanding of how plant microbes evolve and adapt to hosts, pesticides, and other factors, knowledge of the population dynamics and evolutionary history of populations is crucial. Plant pathogen populations are often clonal or partially clonal which requires different analytical tools. With the a...

journal_title：Frontiers in genetics

authors： Kamvar ZN,Brooks JC,Grünwald NJ

更新日期：2015-06-10 00:00:00

abstract：:Cell secretion is an important physiological process that ensures smooth metabolic activities and tissue repair as well as growth and immunological functions in the body. Apocrine secretion occurs when the secretory process is accomplished with a partial loss of cell cytoplasm. The secretory materials are contained wi...

journal_title：Frontiers in genetics

authors： Ishikawa T,Toyoda Y,Yoshiura K,Niikawa N

更新日期：2013-01-02 00:00:00

abstract：:There is evidence of a purifying filter acting in the female germline to prevent the expansion of deleterious mutations in the mitochondrial DNA (mtDNA). Given our poor understanding of this filter, here we investigate the competence of the mouse embryo to eliminate dysfunctional mitochondria. Toward that, mitochondri...

journal_title：Frontiers in genetics

authors： Machado TS,Macabelli CH,Collado MD,Meirelles FV,Guimarães FEG,Chiaratti MR

更新日期：2020-07-15 00:00:00

abstract：:The new class of rare variant tests has usually been evaluated assuming perfect genotype information. In reality, rare variant genotypes may be incorrect, and so rare variant tests should be robust to imperfect data. Errors and uncertainty in SNP genotyping are already known to dramatically impact statistical power fo...

journal_title：Frontiers in genetics

authors： Cook K,Benitez A,Fu C,Tintle N

更新日期：2014-04-01 00:00:00

abstract：:Ethylmalonic encephalopathy (EE) is a very rare autosomal recessive metabolic disorder that primarily affects children. Less than one hundred EE patients have been diagnosed worldwide. The clinical manifestations include chronic diarrhea, petechiae, orthostatic acrocyanosis, psychomotor delay and regression, seizures,...

journal_title：Frontiers in genetics

authors： Chen X,Han L,Yao H

更新日期：2020-04-17 00:00:00

abstract：:The mammalian genome is packed tightly in the nucleus of the cell. This packing is primarily facilitated by histone proteins and results in an ordered organization of the genome in chromosome territories that can be roughly divided in heterochromatic and euchromatic domains. On top of this organization several distinc...

journal_title：Frontiers in genetics

authors： Palstra RJ,Grosveld F

更新日期：2012-09-28 00:00:00

abstract：:Encephalomyopathic mitochondrial DNA (mtDNA) depletion syndrome 13 (MTDPS13) is a rare genetic disorder caused by defects in F-box leucine-rich repeat protein 4 (FBXL4). Although FBXL4 is essential for the bioenergetic homeostasis of the cell, the precise role of the protein remains unknown. In this study, we report t...

journal_title：Frontiers in genetics

authors： Emperador S,Garrido-Pérez N,Amezcua-Gil J,Gaudó P,Andrés-Sanz JA,Yubero D,Fernández-Marmiesse A,O'Callaghan MM,Ortigoza-Escobar JD,Iriondo M,Ruiz-Pesini E,García-Cazorla A,Gil-Campos M,Artuch R,Montoya J,Bayona-Bafaluy MP

更新日期：2020-01-08 00:00:00

abstract：:Resistant Starch (RS), plays a crucial role in human health and nutrition by controlling glucose metabolism. RS or dietary fibre content in rice is low because it goes through a variety of process before it is ready for cooking and consumption. Hence, this study was carried out to develop a rice mutant with increased ...

journal_title：Frontiers in genetics

authors： Gurunathan S,Ramadoss BR,Mudili V,Siddaiah C,Kalagatur NK,Bapu JRK,Mohan CD,Alqarawi AA,Hashem A,Abd Allah EF

更新日期：2019-11-15 00:00:00

abstract：:Communication disorders have complex genetic origins, with constellations of relevant gene markers that vary across individuals. Some genetic variants are present in healthy individuals as well as those affected by developmental disorders. Growing evidence suggests that some variants may increase susceptibility to the...

journal_title：Frontiers in genetics

authors： Centanni TM,Green JR,Iuzzini-Seigel J,Bartlett CW,Hogan TP

更新日期：2015-08-24 00:00:00

abstract：:Human malnutrition due to micronutrient deficiencies, particularly with regards to Zinc (Zn) and Selenium (Se), affects millions of people around the world, and the enrichment of staple foods through biofortification has been successfully used to fight hidden hunger. Rice (Oryza sativa L.) is one of the staple foods m...

journal_title：Frontiers in genetics

authors： Roda FA,Marques I,Batista-Santos P,Esquível MG,Ndayiragije A,Lidon FC,Swamy BPM,Ramalho JC,Ribeiro-Barros AI

更新日期：2020-07-07 00:00:00

abstract：:Alzheimer's disease (AD) is a neurodegenerative and progressive disease, which often causes irreversible damages to the cerebrum. The pathogenesis of AD is far from being fully understood, while there are some popular hypotheses. So far, the diagnosis of AD relies only on clinical screening in the form of imaging tech...

journal_title：Frontiers in genetics

authors： Wang L,Liu ZP

更新日期：2019-03-12 00:00:00

abstract：:Multidrug resistant bacteria are a serious worldwide problem, especially carbapenem-resistant Enterobacteriaceae (such as Klebsiella pneumoniae and Escherichia coli), Acinetobacter baumannii and Pseudomonas aeruginosa. Since the emergence of extensive and pan-drug resistant bacteria there are few antibiotics left to t...

journal_title：Frontiers in genetics

authors： Parmeciano Di Noto G,Molina MC,Quiroga C

更新日期：2019-02-22 00:00:00

abstract：:The genetic predisposition to chronic kidney disease (CKD) has been widely evaluated especially using the genome-wide association studies, which highlighted some novel genetic susceptibility variants in many genes, and estimated glomerular filtration rate to diagnose and stage CKD. Of these variants, rs7805747 in PRKA...

journal_title：Frontiers in genetics

authors： Wang E,Zhao H,Zhao D,Li L,Du L

更新日期：2018-12-03 00:00:00

abstract：:Telomeres are essential nucleoprotein structures at linear chromosomes that maintain genome integrity by protecting chromosome ends from being recognized and processed as damaged DNA. In addition, they limit the cell's proliferative capacity, as progressive loss of telomeric DNA during successive rounds of cell divisi...

journal_title：Frontiers in genetics

authors： Yalçin Z,Selenz C,Jacobs JJL

更新日期：2017-05-23 00:00:00