NKX2-1 New Mutation Associated With Myoclonus, Dystonia, and Pituitary Involvement.

abstract：:Human CYP3A enzymes (including CYP3A4 and CYP4A5) metabolize about 40% of all drugs and numerous other environmental and endogenous substances. CYP3A activity is highly variable within and between humans. As a consequence, therapy with standard doses often results in too low or too high blood and tissue concentrations...

journal_title：Frontiers in genetics

authors： Matthaei J,Bonat WH,Kerb R,Tzvetkov MV,Strube J,Brunke S,Sachse-Seeboth C,Sehrt D,Hofmann U,von Bornemann Hjelmborg J,Schwab M,Brockmöller J

更新日期：2020-08-21 00:00:00

abstract：:In this study, we used pan RNA-seq analysis to reveal the ubiquitous existence of both 5' and 3' end small RNAs (5' and 3' sRNAs). 5' and 3' sRNAs alone can be used to annotate nuclear non-coding and mitochondrial genes at 1-bp resolution and identify new steady RNAs, which are usually transcribed from functional gene...

journal_title：Frontiers in genetics

authors： Xu X,Ji H,Jin X,Cheng Z,Yao X,Liu Y,Zhao Q,Zhang T,Ruan J,Bu W,Chen Z,Gao S

更新日期：2019-02-14 00:00:00

abstract：:Cellular commitment and differentiation involve highly coordinated mechanisms by which tissue-specific genes are activated while others are repressed. These mechanisms rely on the activity of specific transcription factors, chromatin remodeling enzymes, and higher-order chromatin organization in order to modulate tran...

journal_title：Frontiers in genetics

authors： Hernández-Hernández O,Ávila-Avilés RD,Hernández-Hernández JM

更新日期：2020-09-18 00:00:00

abstract：:Seed dormancy and germination are important agronomic traits in wheat (Triticum aestivum L.) because they determine pre-harvest sprouting (PHS) resistance and thus affect grain production. These processes are regulated by Gibberellic Acid-Stimulated Regulator (GASR) genes. In this study, we identified 37 GASR genes in...

journal_title：Frontiers in genetics

authors： Cheng X,Wang S,Xu D,Liu X,Li X,Xiao W,Cao J,Jiang H,Min X,Wang J,Zhang H,Chang C,Lu J,Ma C

更新日期：2019-10-18 00:00:00

abstract：:Two chaperonopathies have been linked to mutations in the human hsp60 (hHsp60; HSPD1) gene, but other existing variants might cause diseases, even if there is no comprehensive information about this possibility. To fill this vacuum, which might be at the basis of misdiagnoses or simply ignorance of chaperonopathies in...

journal_title：Frontiers in genetics

authors： Vitale AM,Conway de Macario E,Alessandro R,Cappello F,Macario AJL,Marino Gammazza A

更新日期：2020-08-18 00:00:00

abstract：:The SLC2A9 gene, that encodes a renal uric acid reuptake transporter, has genetic variants that explain ∼3% of variance in urate levels. There are previous reports of non-additive interaction between SLC2A9 genotype and environmental factors which influence urate control. Therefore, our aim was to further investigate ...

journal_title：Frontiers in genetics

authors： Topless RK,Flynn TJ,Cadzow M,Stamp LK,Dalbeth N,Black MA,Merriman TR

更新日期：2015-10-14 00:00:00

abstract：:Human pluripotent stem cells (hPSCs) are increasingly used for cell-based regenerative therapies worldwide, with embryonic and induced pluripotent stem cells as potential treatments for debilitating and chronic conditions, such as age-related macular degeneration, Parkinson's disease, spinal cord injuries, and type 1 ...

journal_title：Frontiers in genetics

authors： Henry MP,Hawkins JR,Boyle J,Bridger JM

更新日期：2019-01-21 00:00:00

abstract：:Atherosclerosis and its comorbidities are the major contributors to the global burden of death worldwide. Lower extremities arterial disease (LEAD) is a common manifestation of atherosclerotic disease of arteries of lower extremities. MicroRNAs belong to epigenetic factors that regulate gene expression and have not ye...

journal_title：Frontiers in genetics

authors： Bogucka-Kocka A,Zalewski DP,Ruszel KP,Stępniewski A,Gałkowski D,Bogucki J,Komsta Ł,Kołodziej P,Zubilewicz T,Feldo M,Kocki J

更新日期：2019-11-22 00:00:00

abstract：:People want to live long, healthy lives. Previous surveys suggest very limited interest in much longer lifespans, but we show that stipulating good health changes responses to favor longer lives by an order of magnitude. Advances in aging research hold out hope for greatly slowed aging with associated good health. Und...

journal_title：Frontiers in genetics

authors： Donner Y,Fortney K,Calimport SR,Pfleger K,Shah M,Betts-LaCroix J

更新日期：2016-01-20 00:00:00

abstract：Background:Lung disease phenotype varies widely even in the F508del (homozygous) genotype. Leukocyte-driven inflammation is important for pulmonary disease pathogenesis in cystic fibrosis (CF). Blood cytokines correlate negatively with pulmonary function in F508del homozygous patients, and gap junction proteins (GJA) m...

journal_title：Frontiers in genetics

authors： Horn T,Ludwig M,Eickmeier O,Neerinex AH,Maitland-van der Zee AH,Smaczny C,Wagner TOF,Schubert R,Zielen S,Majoor C,Bos LD,Schmitt-Grohé S

更新日期：2020-10-28 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：:Gene expression profiling has been widely used to characterize cell status to reflect the health of the body, to diagnose genetic diseases, etc. In recent years, although the cost of genome-wide expression profiling is gradually decreasing, the cost of collecting expression profiles for thousands of genes is still ver...

journal_title：Frontiers in genetics

authors： Li W,Yin Y,Quan X,Zhang H

更新日期：2019-11-12 00:00:00

abstract：:Posttraumatic Stress Disorder (PTSD) is a complex illness, frequently co-morbid with depression, caused by both genetics, and the environment. Alcohol Use Disorder (AUD), which also co-occurs with depression, is often co-morbid with PTSD. To date, very few genes have been identified for PTSD and even less for PTSD com...

journal_title：Frontiers in genetics

authors： Lim PH,Shi G,Wang T,Jenz ST,Mulligan MK,Redei EE,Chen H

更新日期：2018-11-27 00:00:00

abstract：:The TP53 gene is the most commonly mutated gene in human cancers and mutations in TP53 have been shown to have either gain-of-function or loss-of-function effects. Using the data generated by The Cancer Genome Atlas, we sought to define the spectrum of TP53 mutations in hepatocellular carcinomas (HCCs) and their assoc...

journal_title：Frontiers in genetics

authors： Kancherla V,Abdullazade S,Matter MS,Lanzafame M,Quagliata L,Roma G,Hoshida Y,Terracciano LM,Ng CKY,Piscuoglio S

更新日期：2018-02-02 00:00:00

abstract：:A biochemical activity, that is, enzymatic reaction or molecular interaction, frequently involves a molecule, for example, an enzyme, capable of interacting with numerous substrates or partners. Specificity is a fundamental property of biochemical activities, and relative specificity refers to the situation whereby a ...

journal_title：Frontiers in genetics

authors： Zeng Y

更新日期：2011-09-20 00:00:00

abstract：:Genome-wide association studies (GWAS) have identified numerous associations between genetic loci and individual phenotypes; however, relatively few GWAS have attempted to detect pleiotropic associations, in which loci are simultaneously associated with multiple distinct phenotypes. We show that pleiotropic associatio...

journal_title：Frontiers in genetics

authors： Hartley SW,Monti S,Liu CT,Steinberg MH,Sebastiani P

更新日期：2012-09-11 00:00:00

abstract：:Alternative splicing (AS) can enhance transcript diversity dramatically and play an important role in stress adaptation. Limited researches of AS have been reported in the Pacific white shrimp (Litopenaeus vannamei), which is an important aquaculture species in the world. Here, we performed a genome-wide identificatio...

journal_title：Frontiers in genetics

authors： Zhang X,Yuan J,Zhang X,Liu C,Xiang J,Li F

更新日期：2019-09-12 00:00:00

abstract：:Germline variants of PIP4K2A impact susceptibility of acute lymphoblastic leukemia (ALL) through inducing its overexpression. Although limited reports suggested the oncogenic role of PIP4K2A in cancers, regulatory network and prognostic effect of this gene remains poorly understood in tumorigenesis and leukemogenesis....

journal_title：Frontiers in genetics

authors： Zhang S,Li Z,Yan X,Bao L,Deng Y,Zeng F,Wang P,Zhu J,Yin D,Liao F,Zhou X,Zhang D,Xia X,Wang H,Yang X,Zhang W,Gao H,Zhang W,Yang L,Hou Q,Xu H,Zhang Y,Shu Y,Wang Y

更新日期：2019-01-15 00:00:00

abstract：:The number of vertebrae, especially thoracic vertebrae, is an important economic trait that may influence carcass length and meat production in animals. However, the genetic basis of vertebrae number in sheep is still poorly understood. To detect the candidate genes, 400 increased number of thoracic vertebrae (T14L6) ...

journal_title：Frontiers in genetics

authors： Li C,Li M,Li X,Ni W,Xu Y,Yao R,Wei B,Zhang M,Li H,Zhao Y,Liu L,Ullah Y,Jiang Y,Hu S

更新日期：2019-07-18 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：:Goats (Capra hircus) are an economically important livestock species providing meat and milk across the globe. They are of particular importance in tropical agri-systems contributing to sustainable agriculture, alleviation of poverty, social cohesion, and utilisation of marginal grazing. There are excellent genetic an...

journal_title：Frontiers in genetics

authors： Muriuki C,Bush SJ,Salavati M,McCulloch MEB,Lisowski ZM,Agaba M,Djikeng A,Hume DA,Clark EL

更新日期：2019-11-04 00:00:00

abstract：:Aptamers are single-stranded nucleic acids that specifically recognize and bind tightly to their cognate targets due to their stable three-dimensional structure. Nucleic acid aptamers have been developed for various applications, including diagnostics, molecular imaging, biomarker discovery, target validation, therape...

journal_title：Frontiers in genetics

authors： Zhou J,Bobbin ML,Burnett JC,Rossi JJ

更新日期：2012-11-02 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：:The multi-subunit protein complex, cohesin, is responsible for sister chromatid cohesion during cell division. The interaction of cohesin with DNA is controlled by a number of additional regulatory proteins. Mutations in cohesin, or its regulators, cause a spectrum of human developmental syndromes known as the "cohesi...

journal_title：Frontiers in genetics

authors： Horsfield JA,Print CG,Mönnich M

更新日期：2012-09-12 00:00:00

abstract：:Reliable phenotypes are paramount for meaningful quantification of genetic variation and for estimating individual breeding values on which genetic selection is based. In this paper, we assert that genetic improvement of host tolerance to disease, although desirable, may be first of all handicapped by the ability to o...

journal_title：Frontiers in genetics

authors： Doeschl-Wilson AB,Villanueva B,Kyriazakis I

更新日期：2012-12-14 00:00:00

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：:Nuclear factor Y (NF-Y) is a heterotrimeric transcription factor with the ability to bind to a CCAAT box in nearly all eukaryotes. However, the function of NF-Y in the life-history traits of insects is unclear. Here, we identified three NF-Y subunits, NlNF-YA, NlNF-YB, and NlNF-YC, in the wing-dimorphic brown planthop...

journal_title：Frontiers in genetics

authors： Chen HH,Liu YL,Liu XY,Zhang JL,Xu HJ

更新日期：2020-11-03 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：:Detection of differentially expressed genes is a common task in single-cell RNA-seq (scRNA-seq) studies. Various methods based on both bulk-cell and single-cell approaches are in current use. Due to the unique distributional characteristics of single-cell data, it is important to compare these methods with rigorous st...

journal_title：Frontiers in genetics

authors： Mou T,Deng W,Gu F,Pawitan Y,Vu TN

更新日期：2020-01-17 00:00:00

abstract：:A within-breed genome-wide association study (GWAS) is useful when identifying the QTL that segregates in a breed. However, an across-breed meta-analysis can be used to increase the power of identification and precise localization of QTL that segregate in multiple breeds. Precise localization will allow including QTL ...

journal_title：Frontiers in genetics

authors： Marete AG,Guldbrandtsen B,Lund MS,Fritz S,Sahana G,Boichard D

更新日期：2018-11-06 00:00:00