Article
Biochemistry & Molecular Biology
Nan Guo, Meiying Cai, Min Lin, Huili Xue, Hailong Huang, Liangpu Xu
Summary: Early and intermediate serological screening cannot detect sex chromosome abnormalities. Noninvasive prenatal testing (NIPT) is the only available procedure for screening such disorders. This study found that karyotype analysis and SNP array can improve the diagnostic accuracy for pregnant women with a positive NIPT result indicating sex chromosome abnormalities. The study also identified age-related differences in the positive predictive value.
MOLECULAR BIOLOGY REPORTS
(2022)
Article
Cell Biology
Huili Xue, Xuemei Chen, Min Lin, Na Lin, Hailong Huang, Aili Yu, Liangpu Xu
Summary: Three fetuses with de novo marker chromosomes were identified using molecular cytogenetic techniques, revealing that specifying the origin, size, and gene content of marker chromosomes can aid decision-making and prognostic assessment.
Article
Genetics & Heredity
Meiying Cai, Na Lin, Xuemei Chen, Meimei Fu, Nan Guo, Liangpu Xu, Hailong Huang
Summary: This study aimed to evaluate the genetic etiology and clinical value of chromosomal abnormalities and copy number variations (CNVs) in fetuses with ultrasonic soft markers. It found a considerable proportion of chromosomal abnormalities and abnormal CNVs in these fetuses, with the SNP array fully complementing conventional karyotyping and improving the detection rate of chromosomal abnormalities.
BMC MEDICAL GENOMICS
(2021)
Article
Biotechnology & Applied Microbiology
Nicholas P. Howard, Michela Troggio, Charles-Eric Durel, Helene Muranty, Caroline Denance, Luca Bianco, John Tillman, Eric van de Weg
Summary: This study assessed the concordance and accuracy of Illumina Infinium and Affymetrix Axiom SNP array data in apple genomes. The majority of the data was found to be compatible, although intense data filtering and curation were required for data integration. This in-depth analysis may provide valuable insights for future work on SNP array data integration and interpretation, as well as for probe/platform development.
Article
Gastroenterology & Hepatology
Suk Yee Lam, Michiel C. Mommersteeg, Bingting Yu, Linda Broer, Manon C. W. Spaander, Fabian Frost, Stefan Weiss, Henry Voelzke, Markus M. Lerch, Ben Schoettker, Yan Zhang, Hannah Stocker, Hermann Brenner, Daniel Levy, Shih-Jen Hwang, Alexis C. Wood, Stephen S. Rich, Jerome I. Rotter, Kent D. Taylor, Russell P. Tracy, Edmond K. Kabagambe, Marcis Leja, Janis Klovins, Raitis Peculis, Dace Rudzite, Liene Nikitina-Zake, Girts Skenders, Vita Rovite, Andre Uitterlinden, Ernst J. Kuipers, Gwenny M. Fuhler, Georg Homuth, Maikel P. Peppelenbosch
Summary: The association between anti-H pylori IgG titers and the TLR1/6/10 locus was not replicated across different populations, and the variation at this locus affected TLR1-mediated cytokine production and TLR1 surface expression on monocytes and neutrophils.
Article
Medicine, General & Internal
Xiaorui Xie, Xiaoqing Wu, Linjuan Su, Meiying Cai, Ying Li, Hailong Huang, Liangpu Xu
Summary: This study assessed the value of genome-wide SNP array technology in prenatal diagnosis of fetuses with CNS abnormalities, showing that SNP array was more effective in detecting submicroscopic abnormalities compared to karyotype analysis and had higher detection rates in fetuses with CNS malformations and other ultrasound anomalies than in those with isolated CNS anomalies. The combination of karyotype analysis and SNP array technology is recommended for detecting the development of fetuses with abnormal CNS.
INTERNATIONAL JOURNAL OF GENERAL MEDICINE
(2021)
Article
Genetics & Heredity
Noushin Saadullah Khani, Marius Cotic, Baihan Wang, Rosemary Abidoph, Georgina Mills, Alvin Richards-Belle, Benjamin I. I. Perry, Golam M. M. Khandaker, Elvira Bramon
Summary: People with schizophrenia have a higher risk of premature mortality due to poor physical health, especially cardiovascular disease, diabetes, and obesity. Schizophrenia itself may be an independent factor contributing to these physical health outcomes.
FRONTIERS IN GENETICS
(2023)
Article
Plant Sciences
Le Gao, Chengsheng Meng, Tengfei Yi, Ke Xu, Huiwen Cao, Shuhua Zhang, Xueju Yang, Yong Zhao
Summary: The study identified 270 significant SNPs associated with yield- and quality-related traits in wheat, and detected 638 putative candidate genes near these SNPs. This provides new insights into the genetic basis of wheat yield and quality.
Article
Oncology
Isabel Castro, Belem Sampaio-Marques, Anabela C. Areias, Hugo Sousa, Angela Fernandes, Jose Manuel Sanchez-Maldonado, Cristina Cunha, Agostinho Carvalho, Juan Sainz, Paula Ludovico
Summary: Acute myeloid leukemia (AML) is a deadly blood cancer, with single nucleotide polymorphisms (SNPs) being considered as potential candidates for disease prevention. SNPs in the autophagy core gene ATG10, especially ATG10(rs3734114), are associated with increased susceptibility to AML. On the other hand, ATG10(rs1864182) SNP is linked to reduced risk of developing AML.
Article
Oncology
Hailong Huang, Meiying Cai, Huili Xue, Liangpu Xu, Na Lin
Summary: Fetal ultrasound abnormalities may lead to cognitive dysfunction or developmental retardation, and chromosome detection is necessary in these cases. The study analyzed the efficiency of single nucleotide polymorphism (SNP) array in diagnosing genetic abnormalities in fetuses with ultrasound abnormalities. The results showed that SNP array had a higher detection rate for pathogenic copy number variations (CNVs) compared to karyotyping.
AMERICAN JOURNAL OF TRANSLATIONAL RESEARCH
(2022)
Article
Fisheries
Yuchen Jiang, Jiamin Guo, Ayelhan Haisa, Yubang Shen
Summary: This study investigates the heat tolerance of the northern pike and its genetic basis. GWAS analysis identifies significant SNP loci and candidate genes associated with heat tolerance in the northern pike. The findings provide important insights for the cultivation of heat-resistant fry.
Article
Obstetrics & Gynecology
Xiaoqing Wu, Danhua Guo, Ying Li, Xiaorui Xie, Linjuan Su, Meiying Cai, Lin Zheng, Na Lin, Bin Liang, Hailong Huang, Liangpu Xu
Summary: The aim of this study was to investigate the frequency and characteristics of non-mosaic sex chromosome abnormalities in prenatal diagnosis over the past 10 years. The results showed that traditional karyotyping identified 269 cases of non-mosaic sex chromosome abnormalities among 29,832 fetuses, with an overall detection rate of 0.90%. Common sex chromosome aneuploidies (SCAs) accounted for 0.81% of the cases, with 47,XXY being the most frequent. The use of NIPT and SNP array technology improved the detection of SCAs and submicroscopic aberrations associated with sex chromosomes.
JOURNAL OF PERINATAL MEDICINE
(2023)
Article
Plant Sciences
Yongsheng Sang, Hongkun Zhao, Xiaodong Liu, Cuiping Yuan, Guangxun Qi, Yuqiu Li, Lingchao Dong, Yingnan Wang, Dechun Wang, Yumin Wang, Yingshan Dong
Summary: This study investigated the resistance of soybean to powdery mildew (PMD) through genotyping and greenhouse evaluations. By conducting genome-wide association studies, seven SNPs strongly associated with PMD resistance were identified, and potential candidate genes related to resistance were discovered. Furthermore, the gene expression levels in resistant and susceptible genotypes were analyzed, and candidate genes associated with PMD resistance were identified. These findings are important for genetic improvement in breeding PMD-resistant soybean cultivars.
FRONTIERS IN PLANT SCIENCE
(2023)
Review
Biochemistry & Molecular Biology
Yaqian Wang, Shujuan Jiang
Summary: The beta-2-adrenergic receptor is highly expressed in most malignancies and has been associated with key processes such as carcinogenesis, proliferation, immune regulation, invasion, angiogenesis, clinical prognosis, and treatment resistance. Polymorphisms of the ADRB2 gene have been shown to impact cancer susceptibility, prognosis, and treatment response in cancer patients.
MOLECULAR BIOLOGY REPORTS
(2021)
Article
Agriculture, Dairy & Animal Science
Alberto Cesarani, Giustino Gaspa, Alfredo Pauciullo, Lorenzo Degano, Daniele Vicario, Nicolo P. P. Macciotta
Summary: The study of Runs of Homozygosity (ROH) is a useful approach for the characterization of the genome of livestock populations. The research identified a mixed genetic background in the 5 European Simmental populations, with the possible presence of three subgroups. Additionally, a strong relationship between autozygosity and production traits has been detected.
JOURNAL OF ANIMAL BREEDING AND GENETICS
(2021)
Article
Biochemistry & Molecular Biology
Marta Wagner, Maciej Sobczynski, Malgorzata Bilinska, Anna Pokryszko-Dragan, Malgorzata Cyrul, Piotr Kusnierczyk, Monika Jasek
JOURNAL OF MOLECULAR NEUROSCIENCE
(2015)
Article
Immunology
Marta Wagner, Maciej Sobczynski, Lidia Karabon, Malgorzata Bilinska, Anna Pokryszko-Dragan, Edyta Pawlak-Adamska, Malgorzata Cyrul, Piotr Kusnierczyk, Monika Jasek
JOURNAL OF NEUROIMMUNOLOGY
(2015)
Article
Cell Biology
M. Jasek, M. Wagner, M. Sobczynski, D. Wolowiec, K. Kuliczkowski, D. Woszczyk, M. Kielbinski, P. Kusnierczyk, I. Frydecka, L. Karabon
Article
Immunology
Lidia Karabon, Anna Partyka, Monika Jasek, Ewa Lech-Maranda, Olga Grzybowska-Izydorczyk, Agnieszka Bojarska-Junak, Edyta Pawlak-Adamska, Anna Tomkiewicz, Tadeusz Robak, Jacek Rolinski, Irena Frydecka
ARCHIVUM IMMUNOLOGIAE ET THERAPIAE EXPERIMENTALIS
(2016)
Article
Oncology
Monika Jasek, Agnieszka Bojarska-Junak, Marta Wagner, Maciej Sobczynski, Dariusz Wolowiec, Jacek Rolinski, Lidia Karabon, Piotr Kusnierczyk
Article
Biochemistry & Molecular Biology
Marta Wagner, Maciej Sobczynski, Malgorzata Bilinska, Anna Pokryszko-Dragan, Malgorzata Cyrul, Piotr Kusnierczyk, Monika Jasek
JOURNAL OF MOLECULAR NEUROSCIENCE
(2017)
Article
Biochemistry & Molecular Biology
Aleksandra Bylinska, Karolina Wilczynska, Jacek Malejczyk, Lukasz Milewski, Marta Wagner, Monika Jasek, Wanda Niepieklo-Miniewska, Andrzej Wisniewski, Rafal Ploski, Ewa Barcz, Piotr Roszkowski, Pawel Kaminski, Andrzej Malinowski, Jacek R. Wilczynski, Pawel Radwan, Michal Radwan, Piotr Kusnierczyk, Izabela Nowak
MOLECULAR GENETICS AND GENOMICS
(2018)
Article
Immunology
M. Wagner, A. Wisniewski, M. Bilinska, A. Pokryszko-Dragan, M. Cyrul, P. Kusnierczyk, M. Jasek
Article
Immunology
M. Wagner, M. Bilinska, A. Pokryszko-Dragan, M. Sobczynski, M. Cyrul, P. Kusnierczyk, M. Jasek
JOURNAL OF NEUROIMMUNOLOGY
(2014)
Article
Multidisciplinary Sciences
Joanna Kinga Poninska, Boleslaw Samolinski, Aneta Tomaszewska, Filip Raciborski, Piotr Samel-Kowalik, Artur Walkiewicz, Agnieszka Lipiec, Barbara Piekarska, Edyta Krzych-Falta, Andrzej Namyslowski, Grazyna Kostrzewa, Andrzej Pawlik, Monika Jasek, Andrzej Wisniewski, Piotr Kusnierczyk, Slawomir Majewski, Rafal Ploski
Article
Immunology
Andrzej Wisniewski, Karolina Wilczynska, Marta Wagner, Monika Jasek, Wanda Niepieklo-Miniewska, Izabela Nowak, Lukasz Matusiak, Aneta Szczerkowska-Dobosz, Piotr Kusnierczyk
Article
Oncology
Monika Jasek, Agnieszka Bojarska-Junak, Maciej Sobczynski, Marta Wagner, Sylwia Chocholska, Jacek Rolinski, Dariusz Wolowiec, Lidia Karabon
Review
Immunology
Marta Wagner, Monika Jasek, Lidia Karabon
Summary: Immune therapy has revolutionized the field by blocking immune checkpoints to enhance anti-tumor response. Heterogeneous expression patterns of ICs on immune cells and genetic variants may impact the effectiveness of therapy and are considered risk factors for cancer development. Inherited markers such as SNPs can be used for personalized evaluation and predicting response to immunotherapy.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Oncology
Marta Wagner, Krzysztof Tupikowski, Monika Jasek, Anna Tomkiewicz, Agata Witkowicz, Kuba Ptaszkowski, Pawel Karpinski, Romuald Zdrojowy, Agnieszka Halon, Lidia Karabon
Article
Immunology
Andrzej Wisniewski, Maciej Sobczynski, Konrad Pawelczyk, Irena Porebska, Monika Jasek, Marta Wagner, Wanda Niepieklo-Miniewska, Aneta Kowal, Joanna Dubis, Natalia Jedruchniewicz, Piotr Kusnierczyk
Summary: The distribution of APM polymorphic variants in NSCLC patients shows significant differences between smokers and never-smokers, indicating that ERAP1 may play a different role in anti-cancer response depending on smoking status.
FRONTIERS IN IMMUNOLOGY
(2021)