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A novel variant in the gene in a large Chinese family with a unique phenotype of Clouston syndrome

Frontiers of Medicine 2023, Volume 17, Issue 2,   Pages 330-338 doi: 10.1007/s11684-022-0933-2

Abstract: confirm the diagnosis of this pedigree at the molecular level and summarize and analyse the clinical phenotypeWe identified a new clinical phenotype involving all nail needling pain in all patients and found a special

Keywords： Clouston syndrome     whole exome sequencing     GJB6 gene     novel variant     unique phenotype    

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Heterogeneity of chronic obstructive pulmonary disease: from phenotype to genotype

Xu Chen, Xiaomao Xu, Fei Xiao

Frontiers of Medicine 2013, Volume 7, Issue 4,   Pages 425-432 doi: 10.1007/s11684-013-0295-x

Abstract:

Chronic obstructive pulmonary disease (COPD) is one of the leading causes of morbidity and mortality throughout the world and is mainly characterized by persistent airflow limitation. Given that multiple systems other than the lung can be impaired in COPD patients, the traditional FEV1/FVC ratio shows many limitations in COPD diagnosis and assessment. Certain heterogeneities are found in terms of clinical manifestations, physiology, imaging findings, and inflammatory reactions in COPD patients; thus, phenotyping can provide effective information for the prognosis and treatment. However, phenotypes are often based on symptoms or pathophysiological impairments in late-stage COPD, and the role of phenotypes in COPD prevention and early diagnosis remains unclear. This shortcoming may be overcome by the potential genotypes defined by the heterogeneities in certain genes. This review briefly describes the heterogeneity of COPD, with focus on recent advances in the correlations between genotypes and phenotypes. The potential roles of these genotypes and phenotypes in the molecular mechanisms and management of COPD are also elucidated.

Keywords： chronic obstructive pulmonary disease     heterogeneity     phenotype     genotype     prediction    

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Effects of iron oxide nanoparticles on phenotype and metabolite changes in hemp clones ( L.)

Frontiers of Environmental Science & Engineering 2022, Volume 16, Issue 10, doi: 10.1007/s11783-022-1569-9

Abstract:

● Fe3O4 NPs increased the biomass and chlorophyll content of hemp clones.

Keywords： Fe3O4 nanoparticle     Hemp     Growth enhancement     THC     Metabolite    

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Clinical phenotype network: the underlying mechanism for personalized diagnosis and treatment of traditional

Xuezhong Zhou,Yubing Li,Yonghong Peng,Jingqing Hu,Runshun Zhang,Liyun He,Yinghui Wang,Lijie Jiang,Shiyan Yan,Peng Li,Qi Xie,Baoyan Liu

Frontiers of Medicine 2014, Volume 8, Issue 3,   Pages 337-346 doi: 10.1007/s11684-014-0349-8

Abstract: To investigate the underlying mechanisms of TCM personalized medicine, we constructed a clinical phenotypenetwork (CPN), in which the clinical phenotype entities like symptoms and diagnoses are presented as

Keywords： personalized medicine     complex network     clinical phenotype network     traditional Chinese medicine    

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IRF4 and IRF8 expression are associated with clinical phenotype and clinico-hematological response to

Frontiers of Medicine 2022, Volume 16, Issue 3,   Pages 403-415 doi: 10.1007/s11684-021-0858-1

Abstract: Patients with decreased IRF4 expression were correlated with a more developed MPN phenotype in myelofibrosisOur data indicate that the expression of IRF4 and IRF8 was associated with the MPN phenotype, which may

Keywords： myeloproliferative neoplasms     IRF4     IRF8     hydroxyurea     essential thrombocythemia    

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Changes of phenotype and function of human CD4 CD25 T cells induced by transfection of Foxp3

WU Kui, BI Yutian, WANG Yaoli, WANG Changzheng

Frontiers of Medicine 2008, Volume 2, Issue 4,   Pages 366-369 doi: 10.1007/s11684-008-0070-6

Abstract: The aim of this paper is to explore the effects of transfection of Foxp3 gene on the phenotype and functionCD4CD25 T cells acquired a regulatory phenotype and function after it was transduced with the Foxp3 gene
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Natural killer cells in liver diseases

Meijuan Zheng, Haoyu Sun, Zhigang Tian

Frontiers of Medicine 2018, Volume 12, Issue 3,   Pages 269-279 doi: 10.1007/s11684-018-0621-4

Abstract:

The liver has been characterized as a frontline lymphoid organ with complex immunological features such as liver immunity and liver tolerance. Liver tolerance plays an important role in liver diseases including acute inflammation, chronic infection, autoimmune disease, and tumors. The liver contains a large proportion of natural killer (NK) cells, which exhibit heterogeneity in phenotypic and functional characteristics. NK cell activation, well known for its role in the immune surveillance against tumor and pathogen-infected cells, depends on the balance between numerous activating and inhibitory signals. In addition to the innate direct “killer” functions, NK cell activity contributes to regulate innate and adaptive immunity (helper or regulator). Under the setting of liver diseases, NK cells are of great importance for stimulating or inhibiting immune responses, leading to either immune activation or immune tolerance. Here, we focus on the relationship between NK cell biology, such as their phenotypic features and functional diversity, and liver diseases.

Keywords： natural killer cell     phenotype     immune activation     immune tolerance     liver diseases    

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Genetics analysis of haptoglobin gene in Fujian Han nationality

ZOU Qilian, LIN Ying, LIN Xiangquan, CHEN Yuanzhong

Frontiers of Medicine 2008, Volume 2, Issue 1,   Pages 105-107 doi: 10.1007/s11684-008-0019-9

Abstract: The Hp phenotype frequency was 0.026 in which the four age groups accounted for 0.032, 0.046, 0.014 andThe frequency of Hp phenotype is highest in the middle aged group and then tends to drop with increasing

Keywords： different     haptoglobin     phenotype frequency     electrophoresis     middle    

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Hospital-Based Phenotypic Features and Treatment Outcomes of Chinese Women with Polycystic Ovary Syndrome: The Effect of Body Mass Index and Geographic Distribution Article

Jingshu Gao, Hongli Ma, Yu Wang, Xinming Yang, Yijuan Cao, Bei Zhang, Conghui Han, Xiaoke Wu

Engineering 2021, Volume 7, Issue 2,   Pages 170-177 doi: 10.1016/j.eng.2020.12.006

Abstract:

Genetic, lifestyle, and environmental factors contribute to the etiology of polycystic ovary syndrome (PCOS). Increased body mass index (BMI) exacerbates the reproductive and metabolic parameters and reduces the fecundity of women with PCOS. This is a secondary analysis of a large-sample, multicenter, randomized controlled trial conducted at 21 sites in Chinese mainland. A total of 1000 women diagnosed with PCOS were enrolled in this trial. Of these, 998 women with PCOS were included in the analysis. Increased BMI was associated with more severe menstrual irregularities, elevated testosterone level, higher prevalence of metabolic syndrome, and poorer quality of life. The rates of ovulation per woman for the normal, overweight, and obese BMI groups were 83.0%, 78.2%, and 63.6%, respectively (P < 0.001), and the rates of live birth were 23.6%, 18.1%, and 15.3% (P = 0.030). Northern PCOS patients showed more severe reproductive, glucose, and lipid profiles; less exercise; and lower total ovulation rates compared with PCOS patients from Southern China (74.8% vs 81.2%, absolute difference 6.4%, 95% confidence interval 1.2%–11.5%). The results show the typical phenotypic features of Han women with PCOS in Northern and Southern China. The women living in Northern China showed a higher BMI, more severe glycolipid metabolism profiles, and subsequently worse clinical outcomes by the same interventions than those living in Southern China. The difference in phenotypic features can be explained mostly by differences in BMI and the resulting difference in ovulation.

Keywords： Polycystic ovary syndrome     Body mass index     Phenotype     Chinese cohort     Geographic distribution    

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Title Author Date Type Operation

A novel variant in the gene in a large Chinese family with a unique phenotype of Clouston syndrome

Journal Article

Heterogeneity of chronic obstructive pulmonary disease: from phenotype to genotype

Xu Chen, Xiaomao Xu, Fei Xiao

Journal Article

Effects of iron oxide nanoparticles on phenotype and metabolite changes in hemp clones ( L.)

Journal Article

Clinical phenotype network: the underlying mechanism for personalized diagnosis and treatment of traditional

Xuezhong Zhou,Yubing Li,Yonghong Peng,Jingqing Hu,Runshun Zhang,Liyun He,Yinghui Wang,Lijie Jiang,Shiyan Yan,Peng Li,Qi Xie,Baoyan Liu

Journal Article

IRF4 and IRF8 expression are associated with clinical phenotype and clinico-hematological response to

Journal Article

Changes of phenotype and function of human CD4 CD25 T cells induced by transfection of Foxp3

WU Kui, BI Yutian, WANG Yaoli, WANG Changzheng

Journal Article

Natural killer cells in liver diseases

Meijuan Zheng, Haoyu Sun, Zhigang Tian

Journal Article

Genetics analysis of haptoglobin gene in Fujian Han nationality

ZOU Qilian, LIN Ying, LIN Xiangquan, CHEN Yuanzhong

Journal Article

Qiu Quan: Research on High Throughput Phenotype Acquisition Robot (2020-8-18)

17 Oct 2022

Conference Videos

Hospital-Based Phenotypic Features and Treatment Outcomes of Chinese Women with Polycystic Ovary Syndrome: The Effect of Body Mass Index and Geographic Distribution

Jingshu Gao, Hongli Ma, Yu Wang, Xinming Yang, Yijuan Cao, Bei Zhang, Conghui Han, Xiaoke Wu

Journal Article

Gao Jingshu: Clinical Phenotype and Treatment Outcome of Chinese Women with Polycystic Ovary Syndrome

23 Oct 2021

Conference Videos