Article
Cell Biology
Maria Luiza de Oliveira-Caramez, Luciana Veiga-Castelli, Andreia S. Souza, Renata Nahas Cardili, David Courtin, Milena Floria-Santos, Eduardo Donadi, Silvana Giuliatti, Audrey Sabbagh, Erick C. Castelli, Celso Teixeira Mendes-Junior
Summary: Vitiligo is a common cause of depigmentation worldwide. Genetic association studies have identified 50 loci associated with the disease, including HLA-G, LILRB1, and LILRB2, which play roles in immunity. This study investigated the association of these genes with vitiligo risk and found an interaction between HLA-G and LILRB1 in the pathogenesis.
Article
Immunology
Qiong-Yuan Chen, Yu-Xin Chen, Qiu-Yue Han, Jiang-Gang Zhang, Wen-Jun Zhou, Xia Zhang, Yao-Han Ye, Wei-Hua Yan, Aifen Lin
Summary: The study found higher levels of immune checkpoint proteins HLA-G/ILT-2/4 and PD-L1 were associated with shorter survival in colorectal cancer (CRC) patients, with ILT-4 being the most significant prognostic indicator. HLA-G levels were related to survival in early-stage CRC patients, while ILT-4 levels were predictive for both early and advanced stage patients. Advanced AJCC stage and higher ILT-4 levels were independent risk factors for poor outcomes in CRC patients.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Agriculture, Dairy & Animal Science
J. Wozniak, W. Loba, P. Iskrzak, M. Pszczola, J. Wojtczak, M. Switonski, J. Nowacka-Woszuk
Summary: Umbilical hernia (UH) is a common defect in pigs, which affects their welfare and causes economic loss. This study aimed to investigate the association between UH and DNA variants in the CAPN9, OSM, ITGAM, and NUGGC genes. The study analyzed SNPs in CAPN9, OSM, and ITGAM genes and detected differences in allele frequencies for four SNPs in CAPN9. Haplotype analysis revealed that certain haplotypes in OSM and ITGAM genes were associated with a reduced risk of UH in pigs.
Article
Immunology
Qiong-Yuan Chen, Wen-Jun Zhou, Jiang-Gang Zhang, Xia Zhang, Qiu-Yue Han, Aifen Lin, Wei-Hua Yan
Summary: This study found that only a high percentage of ILT-4+ tumor cells was significantly associated with poor prognosis in the entire cohort of patients with gastric cancer. However, a high percentage of HLA-G(+) and ILT-4(+) tumor cells was associated with poor clinical outcome among female patients with gastric cancer.
INTERNATIONAL IMMUNOPHARMACOLOGY
(2022)
Article
Biotechnology & Applied Microbiology
Chunna Fan, Zhonghua Wang, Yan Sun, Jun Sun, Xi Liu, Licheng Kang, Yingshuo Xu, Manqiu Yang, Wentao Dai, Lijie Song, Xiaoming Wei, Jiale Xiang, Hui Huang, Meizhen Zhou, Fanwei Zeng, Lin Huang, Zhengfeng Xu, Zhiyu Peng
Summary: AutoCNV is a semi-automatic automated CNV interpretation system developed based on the technical standards proposed by ACMG and ClinGen, which can automatically generate predictions on copy number loss and gain criteria in a fast and accurate manner, demonstrating high consistency with both reviewers and ClinGen-verified classifications during performance assessment.
Review
Immunology
Silvia Redondo-Garcia, Christopher Barritt, Charys Papagregoriou, Muchaala Yeboah, Bjorn Frendeus, Mark S. Cragg, Ali Roghanian
Summary: Human leukocyte immunoglobulin-like receptors (LILRs) are an important family of immunomodulatory receptors associated with various pathologies. These receptors play a crucial role in immune activation and inhibition, making them potential targets for immunotherapy.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Multidisciplinary Sciences
Cherng-Ru Hsu, Tso-Ting Lai, Yi-Ting Hsieh, Tzyy-Chang Ho, Chung-May Yang, Chang-Hao Yang
Summary: This study investigated the characteristics of choroidal neovascularization (CNV) after anti-vascular endothelial growth factor (anti-VEGF) therapy in patients with neovascular age-related macular degeneration using optical coherence tomography angiography (OCTA). It assessed the potential predictive role of qualitative and quantitative biomarkers for disease activity. The results showed that certain qualitative biomarkers like branching capillaries, anastomoses and loops, peripheral arcade, and hypointense halo, as well as vessel density, were significantly different between active and stable CNV groups. Anastomoses and loops along with vessel density were found to predict active CNV status with high accuracy, demonstrating good discriminatory ability for predicting recurrent exudation in CNV.
SCIENTIFIC REPORTS
(2021)
Review
Medicine, General & Internal
Vivian Paraskevi Douglas, Itika Garg, Konstantinos A. A. Douglas, John B. Miller
Summary: Age-related macular degeneration (AMD) is a major cause of irreversible vision loss in people over 50. Recent advancements in multimodal ophthalmic imaging, including optical coherence tomography (OCT) and OCT-angiography (OCT-A), have improved the detection and characterization of neovascular lesions in AMD.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Biochemistry & Molecular Biology
Marie-Paule Lefranc, Gerard Lefranc
Summary: IMGT (R) is an international immunogenetics information system that facilitates the study of adaptive immune responses. It provides standardized nomenclature for immunoglobulin and T cell receptor genes and offers databases and tools for sequence, gene, and structure analysis.
Article
Computer Science, Software Engineering
Emma Adolfsson, Jon Jonasson, Aniruddh Kashyap, Anna Nordenskold, Anna Green
Summary: We developed an efficient approach for copy number analysis in targeted gene panel or whole exome sequence data. Our new tool CNV-Z detects copy number variants with high specificity and sensitivity, ranging from single nucleotide to entire chromosome. Compared to other CNV callers, CNV-Z shows higher specificity and positive predictive value for detecting exonic CNVs.
Article
Biochemical Research Methods
Bansho Masutani, Yoshihiko Suzuki, Yuta Suzuki, Shinichi Morishita
Summary: JTK is a megabase-scale diploid genome assembler that utilizes long-read sequencing technology to randomly sample kilobase-scale sequences and produce two haplotypes with high accuracy. It successfully assembled the MHC and LRC regions with approximately 99.9% accuracy, outperforming the reference-based approach. In the era of pan-genomics, JTK can complement the reference-based phasing method to assemble medically important regions that are difficult to assemble.
Article
Agriculture, Dairy & Animal Science
Giovanni Coelho Ladeira, Fabricio Pilonetto, Anna Carolina Fernandes, Paola Perez Boscollo, Brayan Dias Dauria, Cristiane Goncalves Titto, Luiz Lehmann Coutinho, Fabyano Fonseca e Silva, Luis Fernando Batista Pinto, Gerson Barreto Mourao
Summary: This study investigated the association between CNV and growth, efficiency, and carcass traits in Santa Ines sheep. Significant CNV segments were found to be associated with carcass yield and residual feed intake. The study provides valuable information about CNV in sheep and its impact on productive traits.
JOURNAL OF ANIMAL BREEDING AND GENETICS
(2022)
Article
Medical Laboratory Technology
Hongyun Zhang, Xin Chen, Hu Tan, Yanling Teng, Dihua Liu, Jiayu Wu, Ranhui Duan, Desheng Liang, Zhuo Li, Lingqian Wu
Summary: This study investigated the genetic abnormalities of 321 intellectual disability patients and found that whole-exome sequencing (WES) had the highest diagnostic yield (50%), followed by copy number variation sequencing (CNV-seq, 19.80%) and karyotyping (7.79%). WES technology detected a high percentage of de novo and novel pathogenic/likely pathogenic variants. The study suggests that a combination of karyotype analysis and WES could be recommended as the first-tier diagnostic strategy for intellectual disability patients.
CLINICA CHIMICA ACTA
(2023)
Article
Cell Biology
Xiaohuan Zhao, Min Gao, Jian Liang, Yuhong Chen, Yimin Wang, Yuwei Wang, Yushu Xiao, Zhenzhen Zhao, Xiaoling Wan, Mei Jiang, Xueting Luo, Feng Wang, Xiaodong Sun
Summary: In this study, we found that SLC7A11 plays a crucial role in protecting RPE cells from ferroptosis in the laser-induced CNV model, providing a new therapeutic target for neovascular AMD patients. The expression of SLC7A11 in RPE cells is associated with the development of CNV and VEGF expression levels. Furthermore, manipulation of SLC7A11 expression affects cellular lipid peroxidation and cell viability in vitro.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Julian Wolf, Anja Schlecht, Dennis-Dominik Rosmus, Stefaniya Boneva, Hansjurgen Agostini, Gunther Schlunck, Peter Wieghofer, Clemens Lange
Summary: This study characterizes the transcriptome of human and mouse CNV membranes and identifies FN14 as a key player in CNV formation, providing a promising new therapeutic target for neovascular AMD.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
(2022)
Article
Oncology
Maria V. Martinez-Sanchez, Adela Periago, Isabel Legaz, Lourdes Gimeno, Anna Mrowiec, Natividad R. Montes-Barqueros, Jose A. Campillo, Jose M. Bolarin, Maria V. Bernardo, Maria R. Lopez-Alvarez, Consuelo Gonzalez, Maria C. Garcia-Garay, Manuel Muro, Valentin Cabanas-Perianes, Jose L. Fuster, Ana M. Garcia-Alonso, Jose M. Moraleda, Maria R. Alvarez-Lopez, Alfredo Minguela
Article
Genetics & Heredity
M. R. Lopez-Alvarez, W. Jiang, D. C. Jones, J. Jayaraman, C. Johnson, W. O. Cookson, M. F. Moffatt, J. Trowsdale, J. A. Traherne
Article
Oncology
Des C. Jones, Colin R. A. Hewitt, Maria R. Lopez-Alvarez, Martin Jahnke, Alasdair I. Russell, Valeria Radjabova, Alice R. Z. Trowsdale, John Trowsdale
Editorial Material
Veterinary Sciences
R. Paillot, M. R. Lopez-Alvarez, J. R. Newton, A. S. Waller
EQUINE VETERINARY JOURNAL
(2017)
Article
Microbiology
M. R. Lopez-Alvarez, M. Salze, A. Cenier, C. Robinson, R. Paillot, A. S. Waller
VETERINARY MICROBIOLOGY
(2017)
Article
Microbiology
Dion Garrett, Fernando Montesso, Stephanie Fougeroll, Maria R. Lopez-Alvarez, Ilhan Birand, Manuelle De Bock, Chengjin M. Huang, Loic Legrand, Stephane Pronost, Romain Paillot
VETERINARY MICROBIOLOGY
(2017)
Article
Multidisciplinary Sciences
Elizabeth Evans, Romain Paillot, Maria Rocio Lopez-Alvarez
SCIENTIFIC REPORTS
(2018)
Article
Oncology
Concepcion F. Guillamon, Maria V. Martinez-Sanchez, Lourdes Gimeno, Anna Mrowiec, Jeronimo Martinez-Garcia, Gerardo Server-Pastor, Jorge Martinez-Escribano, Amparo Torroba, Belen Ferri, Daniel Abellan, Jose A. Campillo, Isabel Legaz, Maria R. Lopez-Alvarez, Maria Rosa Moya-Quiles, Manuel Muro, Alfredo Minguela
CANCER IMMUNOLOGY RESEARCH
(2018)
Article
Multidisciplinary Sciences
Jyothi Jayaraman, Vitalina Kirgizova, Da Di, Christopher Johnson, Wei Jiang, James A. Traherne
JOVE-JOURNAL OF VISUALIZED EXPERIMENTS
(2019)
Article
Oncology
Lourdes Gimeno, Helios Martinez-Banaclocha, M. Victoria Bernardo, Jose Miguel Bolarin, Luis Marin, Ruth Lopez-Hernandez, M. Rocio Lopez-Alvarez, M. Rosa Moya-Quiles, Manuel Muro, Jose Francisco Frias-Iniesta, Jorge Martinez-Escribano, M. Rocio Alvarez-Lopez, Alfredo Minguela, Jose Antonio Campillo
Article
Biochemistry & Molecular Biology
C. Coral Dominguez-Medina, Nicola L. Rash, Sylvain Robillard, Carl Robinson, Androulla Efstratiou, Karen Broughton, Julian Parkhill, Matthew T. G. Holden, Maria R. Lopez-Alvarez, Romain Paillot, Andrew S. Waller
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2020)
Article
Biochemistry & Molecular Biology
Da Di, Jose Manuel Nunes, Wei Jiang, Alicia Sanchez-Mazas
Summary: Human leukocyte antigen (HLA) genes exhibit significant diversity in populations worldwide, playing a crucial role in immune defense. The functional complementarity between HLA-A and HLA-B molecules demonstrates the complex evolutionary pressures they face under distinct environmental conditions.
MOLECULAR BIOLOGY AND EVOLUTION
(2021)
Article
Infectious Diseases
Stephen Tukwasibwe, James A. Traherne, Olympe Chazara, Jyothi Jayaraman, John Trowsdale, Ashley Moffett, Wei Jiang, Joaniter I. Nankabirwa, John Rek, Emmanuel Arinaitwe, Samuel L. Nsobya, Maxine Atuheirwe, Mubiru Frank, Anguzu Godwin, Prasanna Jagannathan, Stephen Cose, Moses R. Kamya, Grant Dorsey, Philip J. Rosenthal, Francesco Colucci, Annettee Nakimuli
Summary: Malaria is a serious infectious disease with immunity playing a significant role in disease burden. The study found that genes like KIR3DS1, KIR2DL5, KIR2DS5, and KIR2DS1 are more prevalent in areas with historically high malaria transmission intensity, while HLA-C2 is more prevalent in areas with low transmission intensity. The study also developed a high-throughput real-time PCR method for genotyping HLA-C1 and C2 allotypes, which can be useful in large cohort disease-association studies.
Article
Biochemistry & Molecular Biology
Andrew J. Tock, Daniel M. Holland, Wei Jiang, Kim Osman, Eugenio Sanchez-Moran, James D. Higgins, Keith J. Edwards, Cristobal Uauy, F. Chris H. Franklin, Ian R. Henderson
Summary: The hexaploid bread wheat genome contains over 16 gigabases of sequence across 21 chromosomes, with meiotic crossovers being polarized along the chromosomes. The genomic landscapes of the meiotic recombinase DMCI and chromosome axis protein ASY1 in wheat show co-enrichment in the distal regions of the chromosomes active in crossovers. The elevated crossovers at DMCI and ASY1 peaks are associated with enrichment of the Polycomb histone modification H3K27me3, which promotes genetic diversity and selection efficiency.
Article
Immunology
Romain Paillot, Dion Garrett, Maria R. Lopez-Alvarez, Ihlan Birand, Fernando Montesso, Linda Horspool