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Science China. Life Sciences

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https://www.readbyqxmd.com/read/28616808/crop-3d-a-lidar-based-platform-for-3d-high-throughput-crop-phenotyping
#1
Qinghua Guo, Fangfang Wu, Shuxin Pang, Xiaoqian Zhao, Linhai Chen, Jin Liu, Baolin Xue, Guangcai Xu, Le Li, Haichun Jing, Chengcai Chu
With the growing population and the reducing arable land, breeding has been considered as an effective way to solve the food crisis. As an important part in breeding, high-throughput phenotyping can accelerate the breeding process effectively. Light detection and ranging (LiDAR) is an active remote sensing technology that is capable of acquiring three-dimensional (3D) data accurately, and has a great potential in crop phenotyping. Given that crop phenotyping based on LiDAR technology is not common in China, we developed a high-throughput crop phenotyping platform, named Crop 3D, which integrated LiDAR sensor, high-resolution camera, thermal camera and hyperspectral imager...
December 6, 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/28639105/towards-efficiency-in-rare-disease-research-what-is-distinctive-and-important
#2
REVIEW
Jinmeng Jia, Tieliu Shi
Characterized by their low prevalence, rare diseases are often chronically debilitating or life threatening. Despite their low prevalence, the aggregate number of individuals suffering from a rare disease is estimated to be nearly 400 million worldwide. Over the past decades, efforts from researchers, clinicians, and pharmaceutical industries have been focused on both the diagnosis and therapy of rare diseases. However, because of the lack of data and medical records for individual rare diseases and the high cost of orphan drug development, only limited progress has been achieved...
June 16, 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/28639104/gene-mutations-and-clinical-phenotypes-in-chinese-children-with-blau-syndrome
#3
Caifeng Li, Junmei Zhang, Shipeng Li, Tongxin Han, Weiying Kuang, Yifang Zhou, Jianghong Deng, Xiaohua Tan
The mutations of CARD15 gene and clinical features of Chinese patients with Blau syndrome were analyzed. We identified 10 missense mutations, out of which five were new: R334L, E383D, R471C, C495R and D512F. The rest of them, R334W, R334Q, G481D, M513T and R587C, have been reported previously. Among all the mutations, R334W, R334Q and C495R had the highest frequency. Blau syndrome was found at early age after birth. It began with lepidic rash and symmetric polyarthritis and was phenotypically characterized by typical rash, arthritis, iridocyclitis and arteritis...
June 16, 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/28639103/analysis-of-diagnosis-and-treatment-of-lipoblastomatosis
#4
LETTER
Zhiqiang Mo, Xianghui Xie, Huanmin Wang, Hong Qin, Wei Han, Xiaosong Li
No abstract text is available yet for this article.
June 16, 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/28639102/the-clinical-and-genetic-characteristics-in-children-with-mitochondrial-disease-in-china
#5
Fang Fang, Zhimei Liu, Hezhi Fang, Jian Wu, Danmin Shen, Suzhen Sun, Changhong Ding, Tongli Han, Yun Wu, Junlan Lv, Lei Yang, Shufang Li, Jianxin Lv, Ying Shen
Mitochondrial disease was a clinically and genetically heterogeneous group of diseases, thus the diagnosis was very difficult to clinicians. Our objective was to analyze clinical and genetic characteristics of children with mitochondrial disease in China. We tested 141 candidate patients who have been suspected of mitochondrial disorders by using targeted next-generation sequencing (NGS), and summarized the clinical and genetic data of gene confirmed cases from Neurology Department, Beijing Children's Hospital, Capital Medical University from October 2012 to January 2015...
June 16, 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/28624955/presynaptic-inhibition-of-nociceptive-neurotransmission-by-somatosensory-neuron-secreted-suppressors
#6
REVIEW
Kaicheng Li, Bing Cai, Changlin Li, Xu Zhang
Noxious stimuli cause pain by activating cutaneous nociceptors. The Aδ- and C-fibers of dorsal root ganglion (DRG) neurons convey the nociceptive signals to the laminae I-II of spinal cord. In the dorsal horn of spinal cord, the excitatory afferent synaptic transmission is regulated by the inhibitory neurotransmitter γ-aminobutyric acid and modulators such as opioid peptides released from the spinal interneurons, and by serotonin, norepinepherine and dopamine from the descending inhibitory system. In contrast to the accumulated evidence for these central inhibitors and their neural circuits in the dorsal spinal cord, the knowledge about the endogenous suppressive mechanisms in nociceptive DRG neurons remains very limited...
June 15, 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/28624958/whole-exome-sequencing-identified-compound-heterozygous-variants-in-mmks-in-a-chinese-pedigree-with-bardet-biedl-syndrome
#7
Zhan Qi, Ying Shen, Qian Fu, Wei Li, Wei Yang, Wenshan Xu, Ping Chu, Yaxin Zhang, Hui Wang
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder characterized by retinal dystrophy, polydactyly, obesity, developmental delay, and renal defects. At least 21 candidate BBS-associated genes (BBS1-19, NPHP1, and IFT172) have previously been identified, and all of them play important roles in ciliary function. Here, we collected a BBS pedigree with four members and performed whole-exome sequencing on the proband. The variants were analyzed and evaluated to confirm their pathogenicity. We found compound heterozygous variants (c...
June 14, 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/28624957/detection-of-mycobacterial-and-viral-dna-in-kikuchi-fujimoto-disease-an-analysis-of-153-chinese-pediatric-cases
#8
LETTER
Zhe Xu, Ying Liu, Haijing Li, Shufang Meng, Alan S Boyd, Charles W Stratton, Lin Ma, Yi-Wei Tang
No abstract text is available yet for this article.
June 14, 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/28624956/dicer1-mutations-in-twelve-chinese-patients-with-pleuropulmonary-blastoma
#9
Siyu Cai, Xisi Wang, Wen Zhao, Libing Fu, Xiaoli Ma, Xiaoxia Peng
Our aim is to examine the impact of DICER1 mutations on the pathogenesis of pleuropulmonary blastoma (PPB) by evaluating the mutation frequency and investigating the family history of Chinese patients with PPB. The family histories of 12 children with PPB recruited consecutively were surveyed. Blood samples from patients and their first-degree relatives were tested for DICER1 mutations. Whole-genome sequencing of blood samples and formalin-fixed and paraffin-embedded (FFPE) tumor tissue was performed in one family with twins...
June 14, 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/28624954/ar-mutations-in-28-patients-with-androgen-insensitivity-syndrome-prader-grade-0-3
#10
Yi Wang, Chunxiu Gong, Xiou Wang, Miao Qin
We investigated the androgen receptor (AR) gene mutation profiles of Chinese patients exhibiting severe androgen insensitivity syndrome (AIS) phenotypes. The present study enrolled 28 patients with genetically diagnosed AIS, who presented with severe phenotypes (Prader grade 0-3). Patients and some family members were screened via amplification and sequencing of their AR exons 1-8, including the corresponding intronic flanking regions. Luteinizing (LH), follicle-stimulating (FSH), and testosterone (T) hormone levels were found to be slightly, but not significantly, higher in patients with complete androgen insensitivity syndrome (CAIS) than in patients with partial androgen insensitivity syndrome (PAIS) (P>0...
June 14, 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/28624953/genome-wide-analysis-of-differential-dna-methylation-in-silver-russell-syndrome
#11
Di Wu, Chunxiu Gong, Chang Su
Silver-Russell Syndrome (SRS) is clinically heterogeneous disorder characterized by low birth weight, postnatal growth restriction, and variable dysmorphic features. Current evidence strongly implicates imprinted genes as an important etiology of SRS. Although almost half of the patients showed DNA hypomethylation at the H19/IGF2 imprinted domain, and approximately 7%-10% of SRS patients have maternal uniparental disomy of chromosome 7 (UPD (7) mat); the rest of the SRS patients shows unknown etiology. In this study, we investigate whether there are further DNA methylation defects in SRS patients...
June 14, 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/28623545/analysis-of-genotypes-and-phenotypes-in-chinese-children-with-tuberous-sclerosis-complex
#12
Dayong Bai, Junyang Zhao, Li Li, Jun Gao, Xu Wang
Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome with serious clinical presentations, an autosomal dominant genetic disorder involving multiple organs and systems. We retrospectively investigated the clinical manifestations and genotypes of 20 Chinese children with TSC to enable informed diagnostic and surveillance recommendations in China. A retrospective analysis of clinical manifestations in 20 children (7.00±5.30 years old) with TSC was conducted. A genetic testing of the genes TSC1 and TSC2 was performed in 14 children...
June 14, 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/28623544/clinical-feature-and-waveform-in-infantile-nystagmus-syndrome-in-children-with-frmd7-gene-mutations
#13
Dayong Bai, Wei Shi, Zhan Qi, Wei Li, Aihua Wei, Yanhui Cui, Cheng Li, Li Li
Infant nystagmus sydrome presents as involuntary eye movement disorder and can affect seriously ocular function. We performed a retrospective study of clinical data and FRMD7 genetic test results in 12 cases of infantile nystagmus syndrome to correlate waveform, stereopsis, and visual acuity. The patients (age 6.40±2.67 years) had FRMD7 mutations as follows: missense in eight cases, shear in two cases, frameshift in one case, and non-frameshift in one case. Horizontal jerk waveform was observed in six cases, versus horizontal pendulum in five cases and dual jerk in one case...
June 14, 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/28623543/the-challenge-and-promise-of-rare-disease-diagnosis-in-china
#14
EDITORIAL
Xin Ni, Tieliu Shi
No abstract text is available yet for this article.
June 14, 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/28623547/profile-of-dr-xu-zhang
#15
EDITORIAL
Xu Zhang
No abstract text is available yet for this article.
June 10, 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/28639101/prevention-and-treatment-of-cancer-targeting-chronic-inflammation-research-progress-potential-agents-clinical-studies-and-mechanisms
#16
REVIEW
Yong Zhang, Weijia Kong, Jiandong Jiang
Numerous experimental and clinical studies indicate that chronic inflammation is closely related to the initiation, progression, and spread of cancer, in which proinflammatory cytokines, such as interleukin (IL)-6, IL-1β, and tumor necrosis factor-α (TNF-α), and transcription factors, such as nuclear factor-κB (NF-κB), and signal transducer and activator of transcription 3 (STAT3), play pivotal roles. Stimulated by proinflammatory cytokines, NF-κB and STAT3 can modulate the expression of target genes, most of which are oncogenic ones, and promote the survival, proliferation, invasion, and metastasis of cancer cells...
May 29, 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/28639100/sting-mediated-dna-sensing-in-cancer-immunotherapy
#17
REVIEW
Xiang Zhou, Zhengfan Jiang
While STING (STimulator of INterferon Genes) has been shown to be essential for cytosolic DNA-triggered innate immune activation, accumulated evidence obtained from various studies suggested that an intrinsic relevance of STING-associated signaling in tumorigenesis can be observed. Also, several clinical trials using immunostimulatory adjuvants, particularly agonistic as well as non-agonistic ligands for STING, have revealed their therapeutic potential not only as vaccine adjuvants but also as anti-tumor agents...
May 29, 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/28623546/targeting-sphingosine-1-phosphate-signaling-for-cancer-therapy
#18
REVIEW
Zuoquan Xie, Hong Liu, Meiyu Geng
Sphingosine-1-phosphate (S1P) is a potent pleotropic bioactive lipid mediator involved in immune cell trafficking, cell survival, cell proliferation, cell migration, angiogenesis and many other cellular processes. S1P either activates S1P receptors (S1PR1-5) through "inside-out signaling" or acts directly on intracellular targets to regulate various cellular processes. In the past two decades, much progress has been made in exploring S1P signaling and its pathogenic roles in diseases as well as in developing modulators of S1P signaling, including S1P agonists, S1P antagonists and sphingosine kinase (SphK) inhibitors...
May 27, 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/28550524/cop9-signalosome-subunit-pfcsne-regulates-secondary-metabolism-and-conidial-formation-in-pestalotiopsis-fici
#19
Yanjing Zheng, Xiuna Wang, Xiaoling Zhang, Wei Li, Gang Liu, Shihua Wang, Xiufeng Yan, Huixi Zou, Wen-Bing Yin
The COP9 signalosome (CSN) is a highly conserved multiprotein complex in all eukaryotes and involved in regulation of organism development. In filamentous fungi, several lines of evidence indicate that fungal development and secondary metabolism (SM) are mediated by the fifth subunit of CSN, called CsnE. Here we uncover a connection with CsnE and conidial formation as well as SM regulation in the plant endophytic fungus Pestalotiopsis fici. A homology search of the P. fici genome with CsnE, involved in sexual development and SM in Aspergillus nidulans, identified PfCsnE...
May 25, 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/28550523/morphological-evaluation-of-retinal-ganglion-cells-expressing-the-l132c-t159c-chr2-mutant-transgene-in-young-adult-cynomolgus-monkeys
#20
Wenyao Wang, Yan Nan, Zhuo-Hua Pan, Mingliang Pu
To characterize recombinant AAV2 (rAAV2)-mediated expression of L132C/T159C ChR2 mutant in retinal ganglion cells (RGCs) of young adult cynomolgus monkeys. rAAV2 vectors carrying a fusion construct of the ChR2 mutant and GFP (ChR2-GFP) were delivered to the vitreous chamber by intravitreal injection. Expression patterns of the ChR2 mutant in RGCs were examined by immunohistochemical methods three months after injection. The RNA-binding protein with multiple splicing (RBPMS) was used as an RGC specific marker to differentiate RGCs from other retinal neurons and non-neuronal cells...
May 25, 2017: Science China. Life Sciences
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