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Epidemiological study of a von Hippel-Lindau family in northwest China

Jingyao Zhang, Dapeng Wu, Hong Ai, Jigang Bai, Shunbin Dong, Qinling Yang, Kai Qu, Lei Zhou, Xinsen Xu, Chang Liu

Frontiers of Medicine 2013, Volume 7, Issue 3,   Pages 378-385 doi: 10.1007/s11684-013-0276-0

Abstract: We encountered a large VHL family in northwest China and conducted a systematic screening of the familyFor the preliminary family screening, physical examination and abdomen B ultrasonography were performedA total of 63 lineal descendants in six generations were observed in the family (generations O, A, B,Therefore, follow-up checkups of the family should be focused on younger generations.Proper family screening protocols should be followed for the treatment of patients with VHL disease.

Keywords： von Hippel-Lindau disease     epidemiology     family screening     pancreatic endocrine tumor    

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Identification of novel mutations in and in a family with craniofacial microsomia: evidence of digenic

Frontiers of Medicine 2023, Volume 17, Issue 5,   Pages 1006-1009 doi: 10.1007/s11684-023-1000-3

Abstract: Identification of novel mutations in and in a family with craniofacial microsomia: evidence of digenic

Keywords： family craniofacial microsomia     Identification novel mutations    

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The Advanced Gun Family——the birth of type 95 (5.8 mm) squad gun family

Duo Yingxian

Strategic Study of CAE 1999, Volume 1, Issue 2,   Pages 57-61

Abstract: So after a short period of cooperated work, a new advanced squad gun family has been developed basedThis guns family were already used to equip the army assigned to Hong Kong in January, 1997 and shall

Keywords： squad gun family     automatic rifle     machine rifle     assault rifle    

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Low-dose CT for lung cancer screening: opportunities and challenges

Hongbing Shen

Frontiers of Medicine 2018, Volume 12, Issue 1,   Pages 116-121 doi: 10.1007/s11684-017-0600-1

Abstract: Screening for lung cancer coupled with earlier intervention has long been studied as an approach to mortalityOn the basis of this finding, LDCT has been recommended for lung cancer screening in high-risk populationsIn addition, intractable problems gradually emerged with the progress of LDCT screening.This paper summarizes and discusses the main observations and challenges of LDCT screening for lung cancerComplementary biomarkers and technical improvement are expected in the field of lung cancer screening

Keywords： lung cancer     low-dose computerized tomography     early detection     opportunities     challenges    

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Family planning technical services in China

Shang-Chun WU

Frontiers of Medicine 2010, Volume 4, Issue 3,   Pages 285-289 doi: 10.1007/s11684-010-0097-3

Abstract: Family planning is a basic state policy in China.Technical services are the key measures for implementing the family planning policy.appropriate contraceptive methods based on the government’s commitment, China has established countrywide family

Keywords： family planning     contraceptive method     service delivery    

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Discussion on the view of feeding patterns in new era’s family planning services

Yan Xiaoqing

Strategic Study of CAE 2014, Volume 16, Issue 5,   Pages 24-30

Abstract: analyzes general reference volume，the impact of feeding-related factors as well as grass-roots demand for familyexplores the scientific and standardized service examination and evaluation system，enhances the grassroots family

Keywords： feeding patterns     statistical analysis     family planning services    

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Screening of indicator pharmaceuticals and personal care products in landfill leachates: a case study

Frontiers of Environmental Science & Engineering 2023, Volume 17, Issue 9, doi: 10.1007/s11783-023-1716-y

Abstract:

● A systematic framework was developed to identify i-PPCPs for landfill leachate.

Keywords： Landfill leachates     PPCPs     Indicator     Screening criteria     Source-specificity    

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Systematic screening procedure and innovative energy-saving design for ionic liquid-based extractive

Frontiers of Chemical Science and Engineering 2023, Volume 17, Issue 1,   Pages 34-45 doi: 10.1007/s11705-022-2234-3

Abstract: In this study, a systematic screening strategy and innovative energy-saving design for ionic liquid-based

Keywords： ionic liquid     entrainer screening     feasibility analysis     extractive distillation    

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Combination of ARTP mutagenesis and color-mediated high-throughput screening to enhance 1-naphthol yield

Chenggang Qiu, Alei Zhang, Sha Tao, Kang Li, Kequan Chen, Pingkai Ouyang

Frontiers of Chemical Science and Engineering 2020, Volume 14, Issue 5,   Pages 793-801 doi: 10.1007/s11705-019-1876-2

Abstract: Then, a microbial clone screening system was used to accelerate the operation.Meanwhile, a novel color-mediated high-throughput screening using 4-aminoantipyrine was performed to

Keywords： Bacillus cereus QCG     naphthalene     1-naphthol     ARTP mutagenesis     high-throughput screening     4-aminoantipyrine    

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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: Clouston syndrome (OMIM #129500), also known as hidrotic ectodermal dysplasia type 2, is a rare autosomal dominant skin disorder. To date, four mutations in the GJB6 gene, G11R, V37E, A88V, and D50N, have been confirmed to cause this condition. In previous studies, the focus has been mainly on gene sequencing, and there has been a lack of research on clinical manifestations and pathogenesis. To confirm the diagnosis of this pedigree at the molecular level and summarize and analyse the clinical phenotype of patients and to provide a basis for further study of the pathogenesis of the disease, we performed whole-exome and Sanger sequencing on a large Chinese Clouston syndrome pedigree. Detailed clinical examination included histopathology, hair microscopy, and scanning electron microscopy. We found a novel heterozygous missense variant (c.134G>C:p.G45A) for Clouston syndrome. We identified a new clinical phenotype involving all nail needling pain in all patients and found a special honeycomb hole structure in the patients’ hair under scanning electron microscopy. Our data reveal that a novel variant (c.134G>C:p.G45A) plays a likely pathogenic role in this pedigree and highlight that genetic testing is necessary for the diagnosis of Clouston syndrome.

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

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A large-scale screening of metal-organic frameworks for iodine capture combining molecular simulation

Frontiers of Environmental Science & Engineering 2023, Volume 17, Issue 12, doi: 10.1007/s11783-023-1748-3

Abstract:

● Screened 8862 metal-organic frameworks for I2 capture via molecular simulation.

Keywords： Iodine capture     Metal-organic framework     Large-scale screening     Molecular simulation     Machine learning    

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SUPEROXIDE DISMUTASE FAMILY GENES IN WATERMELON AND THEIR RESPONSES TO DIFFERENT ABIOTIC STRESSES

Frontiers of Agricultural Science and Engineering 2021, Volume 8, Issue 4,   Pages 645-658 doi: 10.15302/J-FASE -2020350

Abstract: Genome-wide analysis of the SOD gene family in various plant species has been conductedbut little is known about this gene family in watermelon (Citrullus lanatus).

Keywords： abiotic stress / expression analysis / phylogeny / SOD / superoxide dismutase / watermelon    

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Panoramic variation analysis of a family with neurodevelopmental disorders caused by biallelic loss-of-function

Frontiers of Medicine 2024, Volume 18, Issue 1,   Pages 81-97 doi: 10.1007/s11684-023-1006-x

Abstract: Here, a Pakistani family with parental consanguinity was presented, characterized with severe intellectual

Keywords： neurodevelopmental disorder     autosomal recessive intellectual disability     consanguinity     spastic paraplegia     hearing loss     TMEM141    

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Genetic association between the polymorphism of cytosolic PLA2 gene family and schizophrenia

Qiong YU PhD, Xiang-Fei MENG PhD, Jie-Ping SHI, Ya-Qin YU PhD,

Frontiers of Medicine 2010, Volume 4, Issue 1,   Pages 101-105 doi: 10.1007/s11684-010-0017-6

Abstract: investigate the genetic association between the polymorphism of cytosolic phospholipase A2 (cPLA2) familyreaction (PCR-LDR) was applied to detect the genotype ten single nucleotide polymorphisms (SNPs) of cPLA2 familyOur data suggest that many loci in the cPLA2 family genes may be associated with schizophrenia.

Keywords： schizophrenia     cytosolic phospholipase A2     ligase detection reaction     polymorphism    

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A family of non-conforming crack front elements of quadrilateral and triangular types for 3D crack problems

Guizhong XIE, Fenglin ZHOU, Hao LI, Xiaoyu WEN, Fannian MENG

Frontiers of Mechanical Engineering 2019, Volume 14, Issue 3,   Pages 332-341 doi: 10.1007/s11465-019-0540-3

Abstract: This study focuses on establishing non-conforming crack front elements of quadrilateral and triangular types for 3D crack problems when the dual boundary element method is applied. The asymptotic behavior of the physical variables in the area near the crack front is fully considered in the construction of the shape function. In the developed quadrilateral and triangular crack front elements, the asymptotic term, which captures the asymptotic behavior of the physical variable, is multiplied directly by the conventional Lagrange shape function to form a new crack front shape function. Several benchmark numerical examples that consider penny-shaped cracks and straight-edge crack problems are presented to illustrate the validity and efficiency of the developed crack front elements.

Keywords： Taylor expansion     crack front elements     stress intensity factors     dual boundary element method    

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Title Author Date Type Operation

Epidemiological study of a von Hippel-Lindau family in northwest China

Jingyao Zhang, Dapeng Wu, Hong Ai, Jigang Bai, Shunbin Dong, Qinling Yang, Kai Qu, Lei Zhou, Xinsen Xu, Chang Liu

Journal Article

Identification of novel mutations in and in a family with craniofacial microsomia: evidence of digenic

Journal Article

The Advanced Gun Family——the birth of type 95 (5.8 mm) squad gun family

Duo Yingxian

Journal Article

Low-dose CT for lung cancer screening: opportunities and challenges

Hongbing Shen

Journal Article

Family planning technical services in China

Shang-Chun WU

Journal Article

Discussion on the view of feeding patterns in new era’s family planning services

Yan Xiaoqing

Journal Article

Screening of indicator pharmaceuticals and personal care products in landfill leachates: a case study

Journal Article

Systematic screening procedure and innovative energy-saving design for ionic liquid-based extractive

Journal Article

Combination of ARTP mutagenesis and color-mediated high-throughput screening to enhance 1-naphthol yield

Chenggang Qiu, Alei Zhang, Sha Tao, Kang Li, Kequan Chen, Pingkai Ouyang

Journal Article

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

Journal Article

A large-scale screening of metal-organic frameworks for iodine capture combining molecular simulation

Journal Article

SUPEROXIDE DISMUTASE FAMILY GENES IN WATERMELON AND THEIR RESPONSES TO DIFFERENT ABIOTIC STRESSES

Journal Article

Panoramic variation analysis of a family with neurodevelopmental disorders caused by biallelic loss-of-function

Journal Article

Genetic association between the polymorphism of cytosolic PLA2 gene family and schizophrenia

Qiong YU PhD, Xiang-Fei MENG PhD, Jie-Ping SHI, Ya-Qin YU PhD,

Journal Article

A family of non-conforming crack front elements of quadrilateral and triangular types for 3D crack problems

Guizhong XIE, Fenglin ZHOU, Hao LI, Xiaoyu WEN, Fannian MENG

Journal Article