Article
Biochemistry & Molecular Biology
Cristina Tous, Carmen Munoz-Redondo, Nereida Bravo-Gil, Angela Gavilan, Raquel Maria Fernandez, Juan Antinolo, Elena Navarro-Gonzalez, Guillermo Antinolo, Salud Borrego
Summary: Thyroid carcinoma (TC) can be classified into medullary (MTC) and non-medullary (NMTC). This study aimed to identify susceptibility genes for familial NMTC and non-RET MTC using whole exome sequencing. Rare candidate segregating variants were found in 12 families, with enriched biological processes related to cell proliferation, differentiation, survival, and adhesion. These findings provide insights into molecular mechanisms underlying familial forms of MTC and NMTC, which may contribute to early detection, tailored therapies, and patient management.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Julia Horjus, Tineke van Mourik-Banda, Marco A. P. Heerings, Marina Hakobjan, Ward De Witte, Dorothea J. Heersema, Anne J. Jansen, Eva M. M. Strijbis, Brigit A. de Jong, Astrid E. J. Slettenaar, Esther M. P. E. Zeinstra, Erwin L. J. Hoogervorst, Barbara Franke, Wiebe Kruijer, Peter J. Jongen, Leo J. Visser, Geert Poelmans
Summary: This study identified 12 rare genetic variants associated with multiple sclerosis through whole exome sequencing and co-segregation analysis, highlighting the involvement of various biological processes related to (de-/re-)myelination and auto-immunity.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Radiology, Nuclear Medicine & Medical Imaging
Yunsun Song, Jong-Keuk Lee, Jin-Ok Lee, Boseong Kwon, Eul-Ju Seo, Dae Chul Suh
Summary: Using whole exome sequencing, rare, potentially deleterious variants in the PLOD3, NTM, and CHST14 genes were identified as likely responsible for subsets of familial intracranial aneurysms in a cohort of Korean families. These variants were selected from families with a genetic enrichment for intracranial aneurysms.
KOREAN JOURNAL OF RADIOLOGY
(2022)
Article
Surgery
Erina Takai, Hiromi Nakamura, Suenori Chiku, Emi Kubo, Akihiro Ohmoto, Yasushi Totoki, Tatsuhiro Shibata, Ryota Higuchi, Masakazu Yamamoto, Junji Furuse, Kyoko Shimizu, Hideaki Takahashi, Chigusa Morizane, Toru Furukawa, Shinichi Yachida
Summary: The study aimed to identify novel genes that increase the risk of familial pancreatic cancer (FPC) in the Japanese population. The findings revealed potentially harmful germline variants in tumor suppressor genes in FPC patients, and somatic loss of heterozygosity of certain FPC susceptibility genes may contribute to FPC development. Genetic testing for a wider range of FPC predisposition genes could improve screening methods for high-risk groups of pancreatic cancer.
Article
Clinical Neurology
Yuhan Xie, Julian N. Acosta, Yixuan Ye, Zachariah S. Demarais, Carolyn J. Conlon, Ming Chen, Hongyu Zhao, Guido J. Falcone
Summary: This study used whole-exome sequencing data from 152,058 UK Biobank participants and identified a significant association between a rare genetic variant at CYP2R1 and the risk of ischemic stroke (IS). Validation analyses further confirmed this association in other cohorts and neuroimaging traits.
Article
Geriatrics & Gerontology
Joao Pedro Nunes Goncalves, Tauana Bernardes Leoni, Melina Pazian Martins, Thiago Mazzo Peluzzo, T. Mario Emilio Dourado, M. Jonas Alex Saute, Anna Paula Paranhos Miranda Covaleski, Acary Souza Bulle de Oliveira, Rinaldo Claudino, Wilson Marques, Anamarli Nucci, C. Marcondes Franca
Summary: The study in Brazil found that VAPB and C9orf72 are the most common genes related to fALS, accounting for 30% and 22% respectively. Novel variants in ALS genes, such as SOD1 Val120Leu and ANXA11 Asp40Tyr, were also identified.
NEUROBIOLOGY OF AGING
(2021)
Review
Biochemistry & Molecular Biology
Anna A. Brozyna, Radomir M. Slominski, Boguslaw Nedoszytko, Michal A. Zmijewski, Andrzej T. Slominski
Summary: Psoriasis is a systemic, chronic, immune-mediated disease whose etiology and pathogenesis remain unknown. T-cell activation plays a key role in the development of psoriasis. Modulation of the local neuroendocrine system and vitamin D signaling have shown promising results in adjuvant treatment for psoriasis. Phototherapy, especially UVB-based, can affect serum levels of 25(OH)D, but more clinical trials are needed to establish the correlation between these changes and improvement in psoriasis.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Ophthalmology
Entuan Yang, Jifeng Yu, Xue Liu, Huihui Chu, Li Li
Summary: This study identified potential pathogenic genes associated with early-onset high myopia (eoHM) using whole-exome sequencing. Five genes and ten loci associated with eoHM were identified, and a high presence of genes associated with retinal diseases was found in the 30 families. The study also revealed a correlation between candidate genes and fundus photography phenotype.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
(2023)
Article
Genetics & Heredity
Kiran Narta, Manoj Ramesh Teltumbade, Mansi Vishal, Samreen Sadaf, Mohd. Faruq, Hodan Jama, Naushin Waseem, Aparna Rao, Abhijit Sen, Kunal Ray, Arijit Mukhopadhyay
Summary: This study identifies novel genes and gene networks associated with familial forms of primary open angle glaucoma (POAG) and primary angle closure glaucoma (PACG) through whole-exome sequencing and analysis. Rare mutations with high penetrance were found in glaucoma cases, and the expression profiles of candidate genes were analyzed. The study provides insights into the genetic mechanisms of glaucoma.
Review
Nutrition & Dietetics
Michal A. Zmijewski
Summary: Vitamin D exhibits a variety of activities, including both classic pathway- and vitamin D receptor-dependent transcriptional modulation, as well as rapid and nongenomic responses. It has cell-protective effects, triggers calcium influx, modulates intracellular processes, and influences mitochondrial function. The mechanisms of these nongenomic responses are still not fully understood, but their impact on physiology, pathology, and potential clinical applications are discussed in this review.
Article
Multidisciplinary Sciences
Asem M. Alkhateeb, Diala S. Salman, Kifah A. Al-Hayk
Summary: Multiple sclerosis is a chronic inflammatory autoimmune disease with multifactorial and uncertain etiology, and genetic variants in the Jordanian population provide insights into the pathogenesis of MS.
ARABIAN JOURNAL FOR SCIENCE AND ENGINEERING
(2021)
Article
Oncology
Lucas W. Thornblade, Paul Wong, Daneng Li, Susanne G. Warner, Sue Chang, Mustafa Raoof, Jonathan Kessler, Arya Amini, James Lin, Vincent Chung, Gagandeep Singh, Yuman Fong, Laleh G. Melstrom
Summary: Cholangiocarcinomas are rare cancers with potentially targetable mutations, and a third of patients undergoing resection in the past decade have had tumor genomic profiling, with 89% harboring targetable mutations. While targeted therapies were identified in most sequenced tumors, only 4% of patients received these therapies, highlighting the potential for precision medicine in the future care of cholangiocarcinoma.
Article
Clinical Neurology
Yuhao Zhou, Jian Liu, Liangzhao Chu, Minghao Dong, Luqian Feng
Summary: The study uncovered most of the known mutations in the VHL gene, as well as a previously unreported large fragment deletion. Additionally, 3 novel mutation sites in the MAP2K3 gene were identified that may be involved in the occurrence and development of VHL disease.
WORLD NEUROSURGERY
(2021)
Article
Oncology
Cristina Andres-Zayas, Julia Suarez-Gonzalez, Maria Chicano-Lavilla, Mariana Bastos Oreiro, Gabriela Rodriguez-Macias, Patricia Font Lopez, Santiago Osorio Prendes, Gillen Oarbeascoa Royuela, Patricia Garcia Ramirez, Rocio Nieves Salgado, Ignacio Gomez-Centurion, Diego Carbonell Munoz, Paula Muniz, Mi Kwon, Jose Luis Diez-Martin, Ismael Buno, Carolina Martinez-Laperche
Summary: The study aimed to analyze the genomic characterization of sixteen patients with a strong family or personal onco-hematological history through whole-exome sequencing. Pathogenic or likely pathogenic germline variants were detected in four out of the six families studied, while three P/LP germline variants in genes potentially involved in cancer development were found in the remaining four individuals. Novel candidate genes (NFATC2 and TC2N) potentially related to germline syndromes were identified using next-generation sequencing strategies.
Article
Cell Biology
Katrin Thuene, Matthias Schmitz, John Wiedenhoeft, Orr Shomroni, Stefan Goebel, Timothy Bunck, Neelam Younas, Saima Zafar, Peter Hermann, Inga Zerr
Summary: This study analyzed genetic risk factors in patients with fatal familial insomnia (FFI) and discovered additional gene variants, apart from the PRNP gene, that may affect the age of onset of the disease. These variants are absent in patients with early onset FFI.
Article
Clinical Neurology
Maria Diez-Cirarda, Miguel Yus, Natividad Gomez-Ruiz, Carmen Polidura, Lidia Gil-Martinez, Cristina Delgado-Alonso, Manuela Jorquera, Ulises Gomez-Pinedo, Jorge Matias-Guiu, Juan Arrazola, Jordi A. Matias-Guiu
Summary: Diez-Cirarda et al. report persistent structural and functional brain alterations 11 months after acute SARS-CoV-2 infection, which are associated with cognitive dysfunction and contribute to a better understanding of the pathophysiology of the post-COVID syndrome.
Review
Biochemistry & Molecular Biology
Doddy Denise Ojeda-Hernandez, Alejandro A. Canales-Aguirre, Jordi A. Matias-Guiu, Jorge Matias-Guiu, Ulises Gomez-Pinedo, Juan Carlos Mateos-Diaz
Summary: Chitosan has shown great potential in biomedical applications, and its modifiability is one of its major advantages. This review focuses on the conjugation of chitosan with bioactive molecules like hydroxycinnamic acids (HCAs). The article discusses the characteristics of chitosan and HCAs, describes the conjugation strategies, and explores the biomedical applications of these conjugates.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Letter
Biochemistry & Molecular Biology
Maria Diez-Cirarda, Miguel Yus, Jorge Matias-Guiu, Jordi A. Matias-Guiu
MOLECULAR PSYCHIATRY
(2023)
Article
Cardiac & Cardiovascular Systems
Hernan Mejia-Renteria, Alejandro Travieso, Jordi A. Matias-Guiu, Miguel Yus, Carolina Espejo-Paeres, Francesca Finocchiaro, Sara Fernandez, Carlos Ignacio Gomez-Escalonilla, Blanca Reneses-Prieto, Maria Dulcenombre Gomez-Garre, Alfonso Delgado-Alvarez, Ana Bustos, Leopoldo Perez de Isla, Jose Juan Gomez de Diego, Javier Modrego-Martin, Adriana Ortega-Hernandez, Petros Papadopoulos, Juan Arrazola-Garcia, Jorge Matias-Guiu, Javier Escaned
Summary: This study reveals the correlation between coronary microcirculatory dysfunction in patients with coronary artery disease (CAD) and cerebral small vessel disease (CSVD), as well as cognitive impairment.
EUROPEAN HEART JOURNAL
(2023)
Editorial Material
Clinical Neurology
Jordi A. Matias-Guiu, Alfonso Delgado-Alvarez
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Psychiatry
Jordi A. Matias-Guiu, Elena Herrera, Maria Gonzalez-Nosti, Kamini Krishnan, Cristina Delgado-Alonso, Maria Diez-Cirarda, Miguel Yus, Alvaro Martinez-Petit, Josue Pagan, Jorge Matias-Guiu, Jose Luis Ayala, Robyn Busch, Bruce P. Hermann
Summary: The objective of this study was to develop objective criteria for cognitive dysfunction associated with the post-COVID syndrome. Four hundred and four patients with post-COVID syndrome were evaluated using comprehensive neuropsychological batteries. The developed criteria classified 41.2% and 17.3% of the sample as having at least one impaired cognitive domain using-1 and-1.5 standard deviations as cutoff points. Cognitive impairment was associated with younger age and lower education levels, but not hospitalization.
PSYCHIATRY RESEARCH
(2023)
Editorial Material
Geriatrics & Gerontology
Yuzhen Xu, Ulises Gomez-Pinedo, Jun Liu, Daojun Hong, Jun Xu
FRONTIERS IN AGING NEUROSCIENCE
(2023)
Article
Cell Biology
Ulises Gomez-Pinedo, Jordi A. Matias-Guiu, Denise Ojeda-Hernandez, Sarah de la Fuente-Martin, Ola Mohamed-Fathy Kamal, Maria Soledad Benito-Martin, Belen Selma-Calvo, Paloma Montero-Escribano, Jorge Matias-Guiu
Summary: The implantation of oligodendrocyte precursor cells is a potential therapeutic strategy for remyelination. However, it is unclear how these cells behave after implantation and if they retain the ability to proliferate and differentiate into myelin-forming oligodendrocytes. This study evaluates the impact of corticosteroids on cell proliferation, differentiation, and survival, finding that corticosteroids reduce these capacities and do not support remyelination.
Article
Neurosciences
Laura Hernandez-Lorenzo, Maria Jose Gil-Moreno, Isabel Ortega-Madueno, Maria Cruz Cardenas, Maria Diez-Cirarda, Alfonso Delgado-Alvarez, Marta Palacios-Sarmiento, Jorge Matias-Guiu, Silvia Corrochano, Jose L. A. Ayala, Jordi A. Matias-Guiu
Summary: This study compares the diagnostic and prognostic abilities of CSF biomarkers clustering results with their AT(N) classification. The results suggest that this data-driven three-group classification can effectively evaluate the risk of conversion to dementia.
CNS NEUROSCIENCE & THERAPEUTICS
(2023)
Article
Neurosciences
Alfonso Delgado-Alvarez, Cristina Delgado-Alonso, Maria Valles-Salgado, Maria Jose Gil-Moreno, Lucia Fernandez-Romero, Jorge Matias-Guiu, Jordi A. Matias-Guiu
Summary: This study collected and presented normative data on three neuropsychological instruments developed from a cross-cultural perspective in a majority population sample (Spaniards living in Spain) and a minority population sample (Colombians living in Spain). The study found that these instruments have favorable cross-cultural properties and show similar influences of demographic factors in both populations.
JOURNAL OF ALZHEIMERS DISEASE
(2023)
Article
Medicine, General & Internal
Maria Diez-Cirarda, Miguel Yus-Fuertes, Rafael Sanchez-Sanchez, Javier J. Gonzalez-Rosa, Gabriel Gonzalez-Escamilla, Lidia Gil-Martinez, Cristina Delgado-Alonso, Maria Jose Gil-Moreno, Maria Valles-Salgado, Fatima Cano-Cano, Denise Ojeda-Hernandez, Natividad Gomez-Ruiz, Silvia Oliver-Mas, Maria Soledad Benito-Martin, Manuela Jorquera, Sarah de la Fuente, Carmen Polidura, Belen Selma-Calvo, Juan Arrazola, Jorge Matias-Guiu, Ulises Gomez-Pinedo, Jordi A. Matias-Guiu
Summary: Cognitive deficits are a major symptom in both COVID-19 patients and post-COVID syndrome (PCS). The hippocampus, a key region for cognition, shows vulnerability to SARS-CoV-2 infection. In PCS patients, hippocampal grey matter atrophy, altered microstructural integrity, hypoperfusion, and functional connectivity changes are observed. Blood biomarkers, such as GFAP, MOG, CCL11, and NfL, show alterations in PCS and are associated with hippocampal volume changes.