The Spectrum of PAX6 Mutations and Genotype-Phenotype Correlations in the Eye.

abstract：:Mitochondrial dynamics are known to have an important role in so-called age-related diseases, including cancer. Mitochondria is an organelle involved in many key cellular functions and responds to physiologic or stress stimuli by adapting its structure and function. Perhaps the most important structural changes involv...

journal_title：Genes

authors： Lima AR,Santos L,Correia M,Soares P,Sobrinho-Simões M,Melo M,Máximo V

更新日期：2018-02-21 00:00:00

abstract：:In China, the production for duck meat is second only to that of chicken, and the demand for duck meat is also increasing. However, there is still unclear on the internal mechanism of regulating skeletal muscle growth and development in duck. This study aimed to identity candidate genes related to growth of duck skele...

journal_title：Genes

authors： Hu Z,Cao J,Liu G,Zhang H,Liu X

更新日期：2020-10-20 00:00:00

abstract：:Fat deposition in pigs, which significantly contributes to meat quality, fattening efficiency, reproductive performance, and immunity, is critically affected by preadipocyte adipogenic differentiation. We elucidated adipogenesis in pigs using transcriptome analysis. Preadipocytes from subcutaneous adipose tissue (SAT)...

journal_title：Genes

authors： Zhao X,Chen S,Tan Z,Wang Y,Zhang F,Yang T,Liu Y,Ao H,Xing K,Wang C

更新日期：2019-07-19 00:00:00

abstract：:Genomic imprinting in domestic animals contributes to the variance of performance traits. However, research remains to be done on large-scale detection of epigenetic landscape of porcine imprinted loci including the GNAS complex locus. The purpose of this study was to generate porcine parthenogenetic fetuses and compr...

journal_title：Genes

authors： Ahn J,Wu H,Lee J,Hwang IS,Yu D,Ahn JS,Lee JW,Hwang S,Lee K

更新日期：2020-01-14 00:00:00

abstract：:The autophagy-lysosome pathway, which involves many crucial genes and proteins, plays crucial roles in the maintenance of intracellular homeostasis by the degradation of damaged components. At present, some of these genes and proteins have been identified but their specific functions are largely unknown. This study wa...

journal_title：Genes

authors： Wu LX,Wei CC,Yang SB,Zhao T,Luo Z

更新日期：2019-09-25 00:00:00

abstract：:Silver-Russell syndrome (SRS) is a rare growth-related genetic disorder that is mainly associated with prenatal and postnatal growth retardation. Molecular causes are not clear in all cases, the most common ones being loss of methylation on chromosome 11p15 (≈50%) and maternal uniparental disomy for chromosome 7 (upd(...

journal_title：Genes

authors： Vado Y,Pereda A,Llano-Rivas I,Gorria-Redondo N,Díez I,Perez de Nanclares G

更新日期：2020-12-05 00:00:00

abstract：:Photoperiod is one of the important factors leading to seasonal reproduction of sheep. However, the molecular mechanisms underlying the photoperiod regulation of seasonal reproduction remain poorly understood. In this study, we compared the expression profiles of mRNAs, lncRNAs, and circRNAs in uterine tissues from Su...

journal_title：Genes

authors： La Y,He X,Zhang L,Di R,Wang X,Gan S,Zhang X,Zhang J,Hu W,Chu M

更新日期：2020-03-12 00:00:00

abstract：:The mutation parameter θ is fundamental and ubiquitous in the analysis of population samples of DNA sequences. This paper presents a new highly efficient estimator of θ by utilizing the phylogenetic information among distinct alleles in a sample of DNA sequences. The new estimator, called Allelic BLUE, is derived from...

journal_title：Genes

authors： Fu Y

更新日期：2014-07-22 00:00:00

abstract：:N6-methyladenosine (m6A) is the most abundant RNA modification. It has been involved in the regulation of RNA metabolism, including degradation and translation, in both physiological and disease conditions. A recent study showed that m6A-mediated degradation of key transcripts also plays a role in the control of T cel...

journal_title：Genes

authors： Furlan M,Galeota E,de Pretis S,Caselle M,Pelizzola M

更新日期：2019-01-08 00:00:00

abstract：:The SLC6A4 gene has been implicated in psychiatric disorder susceptibility and antidepressant response variability. The SLC6A4 promoter is defined by a variable number of homologous 20-24 bp repeats (5-HTTLPR), and long (L) and short (S) alleles are associated with higher and lower expression, respectively. However, t...

journal_title：Genes

authors： Botton MR,Yang Y,Scott ER,Desnick RJ,Scott SA

更新日期：2020-11-12 00:00:00

abstract：:In mammals, adenosine (A) to inosine (I) RNA editing is performed by adenosine deaminases acting on RNA (ADAR), ADAR1 and ADAR2 enzymes, encoded by mRNAs that might undergo splicing process. In rat, two splicing events produce several isoforms of ADAR2, called ADAR2a, ADAR2b, ADAR2e, and ADAR2f, but only ADAR2a and AD...

journal_title：Genes

authors： Filippini A,Bonini D,Giacopuzzi E,La Via L,Gangemi F,Colombi M,Barbon A

更新日期：2018-02-08 00:00:00

abstract：:The 2019 "Personal Genomes: Accessing, Sharing and Interpretation" conference (Hinxton, UK, 11-12 April 2019) brought together geneticists, bioinformaticians, clinicians and ethicists to promote openness and ethical sharing of personal genome data while protecting the privacy of individuals. The talks at the conferenc...

journal_title：Genes

authors： Rubin IR,Glusman G

更新日期：2019-08-25 00:00:00

abstract：:Scutellaria baicalensis Georgi (Lamiaceae) is the source of the well-known traditional Chinese medicine "HuangQin" (Radix Scutellariae). Natural sources of S. baicalensis are rapidly declining due to high market demand and overexploitation. Moreover, the commercial products of Radix Scutellariae have often been found ...

journal_title：Genes

authors： Jiang D,Zhao Z,Zhang T,Zhong W,Liu C,Yuan Q,Huang L

更新日期：2017-09-13 00:00:00

abstract：:Hemp is a Pb-tolerant and Pb-accumulating plant and the study of its tolerance mechanisms could facilitate the breeding of hemp with enhanced Pb tolerance and accumulation. In the present study, we took advantage of sequential window acquisition of all theoretical mass spectra (SWATH) technology to study the differenc...

journal_title：Genes

authors： Xia C,Hong L,Yang Y,Yanping X,Xing H,Gang D

更新日期：2019-05-22 00:00:00

abstract：:It is well established that embryonic chromosomal abnormalities (both in the number of chromosomes and the structure) account for 50% of early pregnancy losses. However, little is known regarding the potential differences in the incidence and distribution of chromosomal abnormalities between patients with sporadic abo...

journal_title：Genes

authors： Sheng YR,Hou SY,Hu WT,Wei CY,Liu YK,Liu YY,Jiang L,Xiang JJ,Sun XX,Lei CX,Wang HL,Zhu XY

更新日期：2021-01-22 00:00:00

abstract：:The multiple organellar RNA editing factors (MORF) gene family plays a key role in organelle RNA editing in flowering plants. MORF genes expressions are also affected by abiotic stress. Although seven OsMORF genes have been identified in rice, few reports have been published on their expression patterns in different t...

journal_title：Genes

authors： Zhang Q,Shen L,Ren D,Hu J,Chen G,Zhu L,Gao Z,Zhang G,Guo L,Zeng D,Qian Q

更新日期：2019-09-10 00:00:00

abstract：:Blumeria graminis f. sp. hordei (Bgh), the causal agent of barley powdery mildew (PM), is one of the most important barley leaf diseases and is prevalent in most barley growing regions. Infection decreases grain quality and yields on average by 30%. Multi-parent advanced generation inter-cross (MAGIC) populations comb...

journal_title：Genes

authors： Novakazi F,Krusell L,Jensen JD,Orabi J,Jahoor A,Bengtsson T,On Behalf Of The Ppp Barley Consortium

更新日期：2020-12-18 00:00:00

abstract：:Single-cell RNA sequencing (scRNA-seq) has recently brought new insight into cell differentiation processes and functional variation in cell subtypes from homogeneous cell populations. A lack of prior knowledge makes unsupervised machine learning methods, such as clustering, suitable for analyzing scRNA-seq . However,...

journal_title：Genes

authors： Zhu X,Li HD,Xu Y,Guo L,Wu FX,Duan G,Wang J

更新日期：2019-01-29 00:00:00

abstract：:The efficient extraction of DNA from challenging samples, such as bones, is critical for the success of downstream genotyping analysis in molecular genetic disciplines. Even though the ancient DNA community has developed several protocols targeting small DNA fragments that are typically present in decomposed or old sp...

journal_title：Genes

authors： Xavier C,Eduardoff M,Bertoglio B,Amory C,Berger C,Casas-Vargas A,Pallua J,Parson W

更新日期：2021-01-22 00:00:00

abstract：:Golgi reassembly and stacking protein (GRASP) is required for polysaccharide secretion and virulence in Cryptococcus neoformans. In fungal species, extracellular vesicles (EVs) participate in the export of polysaccharides, proteins and RNA. In the present work, we investigated if EV-mediated RNA export is functionally...

journal_title：Genes

authors： Peres da Silva R,Martins ST,Rizzo J,Dos Reis FCG,Joffe LS,Vainstein M,Kmetzsch L,Oliveira DL,Puccia R,Goldenberg S,Rodrigues ML,Alves LR

更新日期：2018-08-08 00:00:00

abstract：:Aging is a complex multi-layered phenomenon. The study of aging in humans is based on the use of biological material from hard-to-gather tissues and highly specific cohorts. The introduction of cell reprogramming techniques posed promising features for medical practice and basic research. Recently, a growing number of...

journal_title：Genes

authors： Ravaioli F,Bacalini MG,Franceschi C,Garagnani P

更新日期：2018-01-16 00:00:00

abstract：:The liver plays a key role in metabolism and affects pig production. However, the functional annotation of noncoding regions of the pig liver remains poorly understood. We revealed the landscape of cis-regulatory elements and their functional characterization in pig liver. We identified 102,373 cis-regulatory elements...

journal_title：Genes

authors： Luan Y,Zhang L,Hu M,Xu Y,Hou Y,Li X,Zhao S,Zhao Y,Li C

更新日期：2019-05-07 00:00:00

abstract：:Soil salinity is a serious threat to plant growth and crop productivity. Tall fescue utilization in saline areas is limited by its inferior salt tolerance. Thus, a transcriptome study is a prerequisite for future research aimed at providing deeper insights into the molecular mechanisms of tall fescue salt tolerance as...

journal_title：Genes

authors： Amombo E,Li X,Wang G,An S,Wang W,Fu J

更新日期：2018-09-21 00:00:00

abstract：:Variants of the LOXHD1 gene, which are expressed in hair cells of the cochlea and vestibule, have been reported to cause a progressive form of autosomal recessive non-syndromic hereditary hearing loss, DFNB77. In this study, genetic screening was conducted on 8074 Japanese hearing loss patients utilizing massively par...

journal_title：Genes

authors： Maekawa K,Nishio SY,Abe S,Goto SI,Honkura Y,Iwasaki S,Kanda Y,Kobayashi Y,Oka SI,Okami M,Oshikawa C,Sakuma N,Sano H,Shirakura M,Uehara N,Usami SI

更新日期：2019-09-23 00:00:00

abstract：BACKGROUND:HER2 (human epidermal growth factor 2)-positive breast cancer is an aggressive type of breast cancer characterized by the overexpression of the receptor-type protein tyrosine kinase HER2 or amplification of the HER2 gene. It is commonly treated by the drug trastuzumab (Herceptin), but resistance to its actio...

journal_title：Genes

authors： Buiga P,Elson A,Tabernero L,Schwartz JM

更新日期：2019-07-26 00:00:00

abstract：:Breast cancer is one of the most common malignancies in women. Patient-derived tumor xenograft (PDX) model is a cutting-edge approach for drug research on breast cancer. However, PDX still exhibits differences from original human tumors, thereby challenging the molecular understanding of tumorigenesis. In particular, ...

journal_title：Genes

authors： Wang D,Li JR,Zhang YH,Chen L,Huang T,Cai YD

更新日期：2018-03-12 00:00:00

abstract：:Heat stress (HS) is challenging in humans and animals as it is a complicated regulatory mechanism. This prompted us to characterize the physiological and molecular responses of a HS-animal model. In this study, a rat model system was developed by using three temperature treatments (40 ℃, 42 ℃, and 43 ℃) and sixteen bi...

journal_title：Genes

authors： Dou J,Khan A,Khan MZ,Mi S,Wang Y,Yu Y,Wang Y

更新日期：2020-03-13 00:00:00

abstract：:Transcriptional reprograming after the exposure of plants to elevated temperatures is a hallmark of stress response which is required for the manifestation of thermotolerance. Central transcription factors regulate the stress survival and recovery mechanisms and many of the core responses controlled by these factors a...

journal_title：Genes

authors： Hu Y,Fragkostefanakis S,Schleiff E,Simm S

更新日期：2020-06-16 00:00:00

abstract：:The transition from a dormant to a germinating seed represents a crucial developmental switch in the life cycle of a plant. Subsequent transition from a germinating seed to an autotrophic organism also requires a robust and multi-layered control. Seed germination and seedling growth are multistep processes, involving ...

journal_title：Genes

authors： Longo C,Holness S,De Angelis V,Lepri A,Occhigrossi S,Ruta V,Vittorioso P

更新日期：2020-12-31 00:00:00

abstract：:Loss of seed shattering is a key trait in crop domestication, particularly for grain crops. For wild plants, seed shattering is a crucial mechanism to achieve greater fitness, although in the agricultural context, this mechanism reduces harvesting efficiency, especially under dry conditions. Loss of seed shattering wa...

journal_title：Genes

authors： Di Vittori V,Gioia T,Rodriguez M,Bellucci E,Bitocchi E,Nanni L,Attene G,Rau D,Papa R

更新日期：2019-01-19 00:00:00