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Recent advances in understanding genetic variants associated with economically important traits in sheep

Song-Song XU, Meng-Hua LI

Frontiers of Agricultural Science and Engineering 2017, Volume 4, Issue 3,   Pages 279-288 doi: 10.15302/J-FASE-2017151

Abstract: However, genetic improvements for the key traits associated with meat, growth, milk, wool, reproductionutilization of high-throughput screening technologies over the last decade, a list of functional genes and geneticvariants associated with these traits has been identified.high-throughput screening technologies, including those based on single-nucleotide polymorphisms and copy number variantsAdditionally, comprehensive information on functional genes and genetic variants associated with economically

Keywords： sheep     high-throughput screening     productive traits     genome-wide studies    

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Advancement in genetic variants conferring obesity susceptibility from genome-wide association studies

Tao Wang,Weiping Jia,Cheng Hu

Frontiers of Medicine 2015, Volume 9, Issue 2,   Pages 146-161 doi: 10.1007/s11684-014-0373-8

Abstract: Lifestyle change fuels obesity, but genetic factors cause more than 50% of average variations in obesity

Keywords： obesity     genetics     genome-wide association studies     body mass index     fat mass- and obesity-associated gene    

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A review on the electric vehicle routing problems: Variants and algorithms

Hu QIN , Xinxin SU, Teng REN, Zhixing LUO

Frontiers of Engineering Management 2021, Volume 8, Issue 3,   Pages 370-389 doi: 10.1007/s42524-021-0157-1

Abstract: This study presents a comprehensive survey of EV routing problems and their many variants.For each of these nine classes, we focus on reviewing the settings of problem variants and the algorithms

Keywords： electric vehicles     routing     recharging stations     exact algorithms     metaheuristics    

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SARS-CoV-2 variants, immune escape, and countermeasures

Frontiers of Medicine 2022, Volume 16, Issue 2,   Pages 196-207 doi: 10.1007/s11684-021-0906-x

Abstract: SARS-CoV-2 variants have aroused great concern and are expected to continue spreading.In this review, we summarize the literature on variants of concern and focus on the changes in theirFurthermore, we analyzed relationships between variants and breakthrough infections, as well as the paradigmof new variants in countries with high vaccination rates., and combining nonpharmaceutical intervention measures and vaccines are necessary to control these variants

Keywords： SARS-CoV-2     COVID-19     vaccine     immune escape     breakthrough     prevention    

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Penetrance estimation of variants in paroxysmal kinesigenic dyskinesia and infantile convulsions

Frontiers of Medicine 2021, Volume 15, Issue 6,   Pages 877-886 doi: 10.1007/s11684-021-0863-4

Abstract: available relatives, identified 39 families with pathogenic or likely pathogenic (P/LP) PRRT2 variantsvia Sanger sequencing, and obtained 184 PKD/BFIE/ICCA families with P/LP PRRT2 variants fromIn addition, we first observed that penetrance was higher in truncated than in non-truncated variantsOur results are meaningful for genetic counseling, implying that approximately three-quarters of PRRT2carriers will develop PRRT2-related disorders, with patients from Asia or carrying truncated variants

Keywords： penetrance     PRRT2     paroxysmal kinesigenic dyskinesia     infantile convulsions    

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

Frontiers of Medicine doi: 10.1007/s11684-023-1006-x

Abstract: Highly clinical and genetic heterogeneity of neurodevelopmental disorders presents a major challengepolymorphism (SNP) array, whole-exome sequencing, and whole-genome sequencing were performed, and homozygous variantsNotably, the biallelic loss-of-function variants of TMEM141 were responsible for syndromic ID.

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

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High frequency of alternative splicing variants of the oncogene in neuroendocrine tumors of the pancreas

Frontiers of Medicine   Pages 907-923 doi: 10.1007/s11684-023-1009-7

Abstract: The characteristic genetic abnormality of neuroendocrine neoplasms (NENs), a heterogeneous group of tumorsHere, based on the analysis of the splicing variants of an oncogene Focal Adhesion Kinase (datasets that contain 9193 patients of 33 cancer subtypes, we found that Box 6/Box 7-containing FAK variantsWe tested FAK variants in 157 tumor samples collected from Chinese patients with pancreatic tumorsWe further tested FAK splicing variants in breast neuroendocrine carcinoma (BrNECs), and found

Keywords： FAK6/7     SRRM4     neuroendocrine neoplasms     pancreas     breast    

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Association of gene variants with juvenile amyotrophic lateral sclerosis

Frontiers of Medicine doi: 10.1007/s11684-023-1005-y

Abstract: progressive degeneration of motor neurons, and it demonstrates high clinical heterogeneity and complex geneticvariation were identified in 10 patients with ALS in a cohort with 910 patients with ALS, and three more variantsa novel JALS-associated gene called TRMT2B was identified, thus broadening the clinical and genetic

Keywords： TRMT2B     amyotrophic lateral sclerosis     mitochondrial complex I     tRNA methylation     reactive oxygen species    

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Identification of variants associated with sporadic thoracic aortic dissection: a case--control study

Frontiers of Medicine 2021, Volume 15, Issue 3,   Pages 438-447 doi: 10.1007/s11684-020-0826-1

Abstract: So far, the genetic basis of STAD remains unknown.After population structure and genetic relationship and ancestry analyses, we used the optimal sequencekernel association test to identify the candidate genes or variants of STAD.We wanted to expand the knowledge of the genetic basis and pathology of STAD, which may further helpin providing better genetic counseling to the patients.

Keywords： sporadic thoracic aortic dissection     exome sequencing     gene COL3A1     case–control study     extracellular matrix    

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R158Q and G212S, novel pathogenic compound heterozygous variants in of Gitelman syndrome

Frontiers of Medicine 2022, Volume 16, Issue 6,   Pages 932-945 doi: 10.1007/s11684-022-0963-9

Abstract: In identifying the pathogenicity of R158Q and G212S variants of SLC12A3, we evaluated the pathogenicityby bioinformatic, expression, and localization analysis of two variants from a patient in our cohortThese findings indicated that R158Q and G212S variants of SLC12A3 were pathogenic variants of

Keywords： Gitelman syndrome     mouse model     compound heterozygous     hypokalemia     Slc12a3    

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U-shaped association between telomere length and esophageal squamous cell carcinoma risk: a case-control study in Chinese population

Jiangbo Du,Wenjie Xue,Yong Ji,Xun Zhu,Yayun Gu,Meng Zhu,Cheng Wang,Yong Gao,Juncheng Dai,Hongxia Ma,Yue Jiang,Jiaping Chen,Zhibin Hu,Guangfu Jin,Hongbing Shen

Frontiers of Medicine 2015, Volume 9, Issue 4,   Pages 478-486 doi: 10.1007/s11684-015-0420-0

Abstract:

Telomeres play a critical role in biological ageing by maintaining chromosomal integrity and preventing chromosome ends fusion. Epidemiological studies have suggested that inter-individual differences of telomere length could affect predisposition to multiple cancers, but evidence regarding esophageal squamous cell carcinoma (ESCC) was still uncertain. Several telomere length-related single nucleotide polymorphisms (TL-SNPs) in Caucasians have been reported in genome-wide association studies. However, the effects of telomere length and TL-SNPs on ESCC development are unclear. Therefore, we conducted a case-control study (1045 ESCC cases and 1433 controls) to evaluate the associations between telomere length, TL-SNPs, and ESCC risk in Chinese population. As a result, ESCC cases showed overall shorter relative telomere length (RTL) (median: 1.34) than controls (median: 1.50, P<0.001). More interestingly, an evident nonlinear U-shaped association was observed between RTL and ESCC risk (P<0.001), with odds ratios (95% confidence interval) equal to 2.40 (1.84–3.14), 1.36 (1.03–1.79), 1.01 (0.76–1.35), and 1.37 (1.03–1.82) for individuals in the 1st (the shortest), 2nd, 3rd, and 5th (the longest) quintile, respectively, compared with those in the 4th quintile as reference group. No significant associations were observed between the eight reported TL-SNPs and ESCC susceptibility. These findings suggest that either short or extremely long telomeres may be risk factors for ESCC in the Chinese population.

Keywords： esophageal squamous cell carcinoma     telomere length     genetic variants     susceptibility     genome-wide association    

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Coronavirus Variants—Will New mRNA Vaccines Meet the Challenge?

Jennifer Welsh

Engineering 2021, Volume 7, Issue 6,   Pages 712-714 doi: 10.1016/j.eng.2021.04.005

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Machine learning modeling identifies hypertrophic cardiomyopathy subtypes with genetic signature

Frontiers of Medicine 2023, Volume 17, Issue 4,   Pages 768-780 doi: 10.1007/s11684-023-0982-1

Abstract: By employing echocardiography and genetic screening for the 46 genes, HCM can be classified into two

Keywords： machine learning methods     hypertrophic cardiomyopathy     genetic risk    

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Comprehensive functional annotation of susceptibility variants identifies genetic heterogeneity between

Na Qin, Yuancheng Li, Cheng Wang, Meng Zhu, Juncheng Dai, Tongtong Hong, Demetrius Albanes, Stephen Lam, Adonina Tardon, Chu Chen, Gary Goodman, Stig E. Bojesen, Maria Teresa Landi, Mattias Johansson, Angela Risch, H-Erich Wichmann, Heike Bickeboller, Gadi Rennert, Susanne Arnold, Paul Brennan, John K. Field, Sanjay Shete, Loic Le Marchand, Olle Melander, Hans Brunnstrom, Geoffrey Liu, Rayjean J. Hung, Angeline Andrew, Lambertus A. Kiemeney, Shan Zienolddiny, Kjell Grankvist, Mikael Johansson, Neil Caporaso, Penella Woll, Philip Lazarus, Matthew B. Schabath, Melinda C. Aldrich, Victoria L. Stevens, Guangfu Jin, David C. Christiani, Zhibin Hu, Christopher I. Amos, Hongxia Ma, Hongbing Shen

Frontiers of Medicine 2021, Volume 15, Issue 2,   Pages 275-291 doi: 10.1007/s11684-020-0779-4

Abstract: Although genome-wide association studies have identified more than eighty genetic variants associatedwith non-small cell lung cancer (NSCLC) risk, biological mechanisms of these variants remain largelyhistology-specific meta-analyses and functional annotations of both reported and novel susceptibility variantsWe identified 3064 credible risk variants for NSCLC, which were overrepresented in enhancer-like andboth well-studied and new susceptibility loci of NSCLC, providing not only novel insights into the genetic

Keywords： genome-wide association study     function annotation     immune     homologous recombination repair deficiency     genetic    

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Neutralization against SARS-CoV-2 Delta/Omicron variants and B cell response after inactivated vaccination

Frontiers of Medicine 2023, Volume 17, Issue 4,   Pages 747-757 doi: 10.1007/s11684-022-0954-x

Abstract: Emerging SARS-CoV-2 variants have made COVID-19 convalescents susceptible to re-infection and have raisedconcern about the efficacy of inactivated vaccination in neutralization against emerging variants andinactivated vaccine (one or two doses), which enhanced neutralization against highly mutated SARS-CoV-2 variants

Keywords： COVID-19 convalescent     SARS-CoV-2     inactivated vaccination     neutralizing antibody     B cell response    

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Title Author Date Type Operation

Recent advances in understanding genetic variants associated with economically important traits in sheep

Song-Song XU, Meng-Hua LI

Journal Article

Advancement in genetic variants conferring obesity susceptibility from genome-wide association studies

Tao Wang,Weiping Jia,Cheng Hu

Journal Article

A review on the electric vehicle routing problems: Variants and algorithms

Hu QIN , Xinxin SU, Teng REN, Zhixing LUO

Journal Article

SARS-CoV-2 variants, immune escape, and countermeasures

Journal Article

Penetrance estimation of variants in paroxysmal kinesigenic dyskinesia and infantile convulsions

Journal Article

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

Journal Article

High frequency of alternative splicing variants of the oncogene in neuroendocrine tumors of the pancreas

Journal Article

Association of gene variants with juvenile amyotrophic lateral sclerosis

Journal Article

Identification of variants associated with sporadic thoracic aortic dissection: a case--control study

Journal Article

R158Q and G212S, novel pathogenic compound heterozygous variants in of Gitelman syndrome

Journal Article

U-shaped association between telomere length and esophageal squamous cell carcinoma risk: a case-control study in Chinese population

Jiangbo Du,Wenjie Xue,Yong Ji,Xun Zhu,Yayun Gu,Meng Zhu,Cheng Wang,Yong Gao,Juncheng Dai,Hongxia Ma,Yue Jiang,Jiaping Chen,Zhibin Hu,Guangfu Jin,Hongbing Shen

Journal Article

Coronavirus Variants—Will New mRNA Vaccines Meet the Challenge?

Jennifer Welsh

Journal Article

Machine learning modeling identifies hypertrophic cardiomyopathy subtypes with genetic signature

Journal Article

Comprehensive functional annotation of susceptibility variants identifies genetic heterogeneity between

Na Qin, Yuancheng Li, Cheng Wang, Meng Zhu, Juncheng Dai, Tongtong Hong, Demetrius Albanes, Stephen Lam, Adonina Tardon, Chu Chen, Gary Goodman, Stig E. Bojesen, Maria Teresa Landi, Mattias Johansson, Angela Risch, H-Erich Wichmann, Heike Bickeboller, Gadi Rennert, Susanne Arnold, Paul Brennan, John K. Field, Sanjay Shete, Loic Le Marchand, Olle Melander, Hans Brunnstrom, Geoffrey Liu, Rayjean J. Hung, Angeline Andrew, Lambertus A. Kiemeney, Shan Zienolddiny, Kjell Grankvist, Mikael Johansson, Neil Caporaso, Penella Woll, Philip Lazarus, Matthew B. Schabath, Melinda C. Aldrich, Victoria L. Stevens, Guangfu Jin, David C. Christiani, Zhibin Hu, Christopher I. Amos, Hongxia Ma, Hongbing Shen

Journal Article

Neutralization against SARS-CoV-2 Delta/Omicron variants and B cell response after inactivated vaccination

Journal Article