Article
Multidisciplinary Sciences
Yuan Tian, Aimin Chang, Jing Zhao, Xiaofeng Tian, Zhixing Zhao, Ying Shi
Summary: This study investigated the allele frequencies of deafness gene variants in the Henan region of China and found significant differences compared to the East Asian population average. The results contribute to genetic counseling and risk prediction for hearing loss.
Article
Engineering, Electrical & Electronic
Tomasz Karpisz, Bartlomiej Salski, Pawel Kopyt, Jerzy Krupka, Marcin Wojciechowski
Summary: This letter presents and discusses the measurement results of uniaxially anisotropic materials in the 20-50 GHz frequency range using a plano-concave Fabry-Perot open resonator. The study shows the linear polarization of Gaussian modes for characterizing the in-plane complex permittivity of materials and also reveals the anisotropy of dielectric losses.
IEEE MICROWAVE AND WIRELESS COMPONENTS LETTERS
(2022)
Article
Obstetrics & Gynecology
Xiaoqin Feng, Jianrong Liu, Yimin Wang, Jing Fu, Qin Qin, Yingli Cao, Yongai Wu
Summary: The study found that chromosomal polymorphism, especially acrocentric chromosome variants, occurred more frequently in Chinese women with recurrent pregnancy loss (RPL). This novel insight suggests a potential association between higher frequency of acrocentric chromosomal variations and unexplained RPL in Chinese women.
REPRODUCTIVE SCIENCES
(2021)
Article
Engineering, Electrical & Electronic
Bartlomiej Salski, Adam Pacewicz, Piotr Czekala, Pawel Kopyt
Summary: This article introduces a new automated numerical modeling system for the study of Fabry-Perot open resonator (FPOR), which is used for microwave characterization. It focuses on how to use FPOR for the characterization of low-loss liquids, especially coolants for large data centers. By proposing a new electromagnetic model and a dedicated liquid container, and conducting experiments to validate the measurement concept, the unique properties of FPOR are demonstrated.
IEEE TRANSACTIONS ON MICROWAVE THEORY AND TECHNIQUES
(2023)
Article
Computer Science, Information Systems
Parisa Mahdavi, S. Esmail Hosseini, Pedram Shojaadini
Summary: This paper proposes a broadband three-section branch-line coupler based on the novel ridge-gap waveguide (RGW) technology. The proposed structure exhibits advantages such as wide bandwidth, low loss, low sensitivity to manufacturing errors, and easy integration with passive and active components. Through simulation and experimentation, the structure demonstrates low-loss, equal-power division, 90-degree phase difference, good impedance matching, and isolation performance in the Ku band (12-20 GHz). It can be extended to various applications, including array antenna feed networks and solid-state power amplifiers.
Article
Genetics & Heredity
Connor D. Davieson, Katie E. Joyce, Lakshya Sharma, Claire L. Shovlin
Summary: The study tested new recommendations from the ClinGen Sequence Variant Interpretation Working Group and found that the new rules have a significant impact on determining pathogenicity. Based on the results, it is suggested to adjust existing rules for pathogenic gene variants associated with specific diseases to improve accuracy.
EUROPEAN JOURNAL OF MEDICAL GENETICS
(2021)
Review
Neurosciences
Hamid Ullah, Abrar Hussain, Muhammad Asif, Faheem Nawaz, Mahmood Rasool
Summary: This review focuses on the role and application of natural products in the treatment of dementia and related diseases. Some synthetic/semisynthetic drugs have been proven effective in targeting dementia, while only a few natural products have been approved as drugs. However, research on bioassay-guided drug development shows the potential of natural products as drugs against dementia and related diseases.
CNS & NEUROLOGICAL DISORDERS-DRUG TARGETS
(2023)
Article
Biochemistry & Molecular Biology
Pablo Garcia-Gonzalez, Itziar de Rojas, Sonia Moreno-Grau, Laura Montrreal, Raquel Puerta, Emilio Alarcon-Martin, Ines Quintela, Adela Orellana, Victor Andrade, Pamela V. Martino Adami, Stefanie Heilmann-Heimbach, Pilar Gomez-Garre, Maria Teresa Perinan, Ignacio Alvarez, Monica Diez-Fairen, Raul Nunez Llaves, Claudia Olive Roig, Guillermo Garcia-Ribas, Manuel Menendez-Gonzalez, Carmen Martinez, Miquel Aguilar, Mariateresa Buongiorno, Emilio Franco-Macias, Maria Eugenia Saez, Amanda Cano, Maria J. Bullido, Luis Miguel Real, Eloy Rodriguez-Rodriguez, Jose Luis Royo, Victoria Alvarez, Pau Pastor, Gerard Pinol-Ripoll, Pablo Mir, Miguel Calero Lara, Miguel Medina Padilla, Pascual Sanchez-Juan, Angel Carracedo, Sergi Valero, Isabel Hernandez, Lluis Tarraga, Alfredo Ramirez, Merce Boada, Agustin Ruiz
Summary: Mosaic loss of chromosome Y (mLOY) is a common somatic event associated with Alzheimer's disease (AD) and can be age-confounded in genome-wide association studies. This study used Mendelian randomisation to construct an age-independent mLOY polygenic risk score (mloy-PRS) and found that higher genetic risk for mLOY was associated with faster progression to AD in men with mild cognitive impairment. The study suggests that mLOY is involved in AD pathogenesis and shows associations with cerebrospinal fluid biomarkers.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Dentistry, Oral Surgery & Medicine
Avneesh Chopra, Jiahui Song, January Weiner III, Pervin G. Dincer, Huseyin R. Keceli, Raquel Cruz, Angel Carracedo, Juan Blanco, Henrik Dommisch, Arne S. Schaefer
Summary: This study identifies RSPO4 as a potential risk gene for periodontitis and investigates its effects on transcription factor binding sites. It also reveals that RSPO4 activation can lead to changes in the expression of several genes, including a response to interferon-alpha. These findings suggest that RSPO4 may play a role in periodontitis risk and host defense and barrier integrity.
JOURNAL OF CLINICAL PERIODONTOLOGY
(2023)
Article
Genetics & Heredity
Alejandro Blanco-Verea, Brais Pineiro, Rocio Gil, Eva Ramos-Luis, Maria Alvarez-Barredo, Bernardo Lopez-Abel, Beatriz Sobrino, Jorge Amigo, Jose Ramon Gonzalez-Juanatey, Angel Carracedo, Maria Brion
Summary: This study used a cardiac gene panel for sequencing and ExomeDepth software for copy number variation (CNV) detection. After a rigorous prioritization process, three real CNVs were confirmed in five individuals in the MYH11, FBN1, and PDMI7 genes. Based on Bayes factors, BF values above 60 were established as the threshold for considering real CNVs in the calling process carried out by ExomeDepth on our gene panel.
MOLECULAR DIAGNOSIS & THERAPY
(2023)
Article
Respiratory System
Carlota Rodriguez-Garcia, Emilio Rodriguez-Ruiz, Alberto Ruano-Ravina, Raquel Cruz, Maria Pineiro-Lamas, Ana Casal, Pablo Lapunzina, Angel Carracedo, Luis Valdes
JOURNAL OF THORACIC DISEASE
(2023)
Article
Endocrinology & Metabolism
Sara Mellid, Eduardo Gil, Rocio Leton, Eduardo Caleiras, Emiliano Honrado, Susan Richter, Nuria Palacios, Marcos Lahera, Juan C. Galofre, Adria Lopez-Fernandez, Maria Calatayud, Aura D. Herrera-Martinez, Maria A. Galvez, Xavier Matias-Guiu, Milagros Balbin, Esther Korpershoek, Eugenie S. Lim, Francesca Maletta, Sofia Lider, Stephanie M. J. Fliedner, Nicole Bechmann, Graeme Eisenhofer, Letizia Canu, Elena Rapizzi, Irina Bancos, Mercedes Robledo, Alberto Cascon
Summary: In recent years, it has been found that a significant percentage of PPGL patients carry known germline mutations in susceptibility genes. Furthermore, some patients with mutations in the NF1 gene also have co-occurring mutations in other PPGL related genes, which may play a role in tumor development.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Review
Endocrinology & Metabolism
Alberto Cascon, Bruna Calsina, Maria Monteagudo, Sara Mellid, Alberto Diaz-Talavera, Maria Curras-Freixes, Mercedes Robledo
Summary: The genetics of pheochromocytoma and paraganglioma (PPGL) has become increasingly complex over the last two decades, with more than 20 driver genes implicated in the disease. However, a significant percentage of patients still lack a genetic diagnosis. Mutations in known PPGL genes deregulate three main signaling pathways, providing potential targets for personalized treatment. Integrating results from genomic platforms allows for the discovery of regulatory mechanisms and the potential for precision medicine in metastatic PPGL patients.
JOURNAL OF MOLECULAR ENDOCRINOLOGY
(2023)
Article
Oncology
Sara Lindstrom, Lu Wang, Helian Feng, Arunabha Majumdar, Sijia Huo, James Macdonald, Tabitha Harrison, Constance Turman, Hongjie Chen, Nicholas Mancuso, Theo Bammler, Steve Gallinger, Stephen B. Gruber, Marc J. Gunter, Loic Le Marchand, Victor Moreno, Kenneth Offit, Immaculata De Vivo, Tracy A. O'Mara, Amanda B. Spurdle, Ian Tomlinson, Rebecca Fitzgerald, Puya Gharahkhani, Ines Gockel, Janusz Jankowski, Stuart Macgregor, Johannes Schumacher, Jill Barnholtz-Sloan, Melissa L. Bondy, Richard S. Houlston, Robert B. Jenkins, Beatrice Melin, Margaret Wrensch, Paul Brennan, David C. Christiani, Mattias Johansson, James Mckay, Melinda C. Aldrich, Christopher Amos, Maria Teresa Landi, Adonina Tardon, D. Timothy Bishop, Florence Demenais, Alisa M. Goldstein, Mark M. Iles, Peter A. Kanetsky, Matthew H. Law, Laufey T. Amundadottir, Rachael Stolzenberg-Solomon, Brian M. Wolpin, Alison Klein, Gloria Petersen, Harvey Risch, Stephen J. Chanock, Mark P. Purdue, Ghislaine Scelo, Paul Pharoah, Siddhartha Kar, Rayjean J. Hung, Bogdan Pasaniuc, Peter Kraft
Summary: This study quantified the shared genetic contribution to risk of different cancers and identified novel cancer susceptibility loci using data from 12 cancer genome-wide association studies. The results suggest that some genetic risk variants are shared among cancers, but most of cancer heritability is specific to certain tissues. Cross-disease analysis allows for increased statistical power and the identification of new susceptibility regions. Future studies are likely to discover additional regions associated with the risk of multiple cancer types.
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE
(2023)
Article
Multidisciplinary Sciences
Bruna Calsina, Elena Pineiro-Yanez, Angel M. Martinez-Montes, Eduardo Caleiras, Angel Fernandez-Sanroman, Maria Monteagudo, Rafael Torres-Perez, Coral Fustero-Torre, Marta Pulgarin-Alfaro, Eduardo Gil, Rocio Leton, Scherezade Jimenez, Santiago Garcia-Martin, Maria Carmen Martin, Juan Maria Roldan-Romero, Javier Lanillos, Sara Mellid, Maria Santos, Alberto Diaz-Talavera, Angeles Rubio, Patricia Gonzalez, Barbara Hernando, Nicole Bechmann, Margo Dona, Maria Calatayud, Sonsoles Guadalix, Cristina Alvarez-Escola, Rita M. Regojo, Javier Aller, Maria Isabel Del Olmo-Garcia, Adria Lopez-Fernandez, Stephanie M. J. Fliedner, Elena Rapizzi, Martin Fassnacht, Felix Beuschlein, Marcus Quinkler, Rodrigo A. Toledo, Massimo Mannelli, Henri J. Timmers, Graeme Eisenhofer, Sandra Rodriguez-Perales, Orlando Dominguez, Geoffrey Macintyre, Maria Curras-Freixes, Cristina Rodriguez-Antona, Alberto Cascon, Luis J. Leandro-Garcia, Cristina Montero-Conde, Giovanna Roncador, Juan Fernando Garcia-Garcia, Karel Pacak, Fatima Al-Shahrour, Mercedes Robledo
Summary: The mechanisms of metastasis in pheochromocytoma/paraganglioma (mPPGL) are unknown. Genomic and immunogenomic profiling of mPPGL tumors reveal potential biomarkers for risk of metastasis and immunotherapy response.
NATURE COMMUNICATIONS
(2023)
Correction
Oncology
Gauthaman Kalamegam, Khalid Hussein Wali Sait, Farid Ahmed, Roaa Kadam, Peter Natesan Pushparaj, Nisreen Anfinan, Mahmood Rasool, Mohammad Sarwar Jamal, Muhammed Abu-Elmagd, Mohammed Al-Qahtani
FRONTIERS IN ONCOLOGY
(2023)
Letter
Oncology
Sara Mellid, Fernando Garcia, Luis Javier Leandro-Garcia, Alberto Diaz-Talavera, Angel Mario Martinez-Montes, Eduardo Gil, Bruna Calsina, Maria Monteagudo, Rocio Leton, Juan Maria Roldan-Romero, Maria Santos, Javier Lanillos, Carlos Valdivia, Natalia Martinez-Puente, Javier de Nicolas-Hernandez, Scherezade Jimenez, Manuel Perez-Martinez, Emiliano Honrado, Javier Coloma, Ana Cerezo, Clara Maria Santiveri, Manel Esteller, Ramon Campos-Olivas, Eduardo Caleiras, Cristina Montero-Conde, Cristina Rodriguez-Antona, Javier Munoz, Mercedes Robledo, Alberto Cascon
CANCER COMMUNICATIONS
(2023)
Article
Public, Environmental & Occupational Health
Ameni Chelly, Amal Bouzid, Fadoua Neifar, Ines Kammoun, Adel Tekari, Saber Masmoudi, Hamdi Chtourou, Ahmed Rebai
Summary: This study aimed to investigate the influence of physical activity on DNA methylation changes of the RANKL promoter region and assess the effect of aerobic and strength training on RANKL DNA methylation in Tunisian-North African adults. The results showed that active adults had significantly higher methylation levels in the RANKL promoter region compared to sedentary adults. After the intervention, both the trained and untrained groups exhibited increased methylation levels in the RANKL promoter region. The trained group also showed improvements in various physical parameters.
JOURNAL OF PHYSICAL ACTIVITY & HEALTH
(2023)
Letter
Pharmacology & Pharmacy
Magnus Ingelman-Sundberg, Marin Jukic, Line Skute Braten, Marianne Kristiansen Kringen, Espen Molden
CLINICAL PHARMACOLOGY & THERAPEUTICS
(2023)