Oral phenotype and scoring of vascular Ehlers–Danlos syndrome: a case–control study by Lisa Golmard, Ariane Berdal, François Côme Ferré, Michael Frank, Bruno Gogly, Adrien Naveau, Hafida Chérifi, Joseph Emmerich, Frédérick Gaultier, Xavier Jeunemaitre, Benjamin P J Fournier

“…Objective Vascular Ehlers–Danlos syndrome (vEDS) is a rare genetic condition related to mutations in the COL3A1 gene, responsible of vascular, digestive and uterine accidents. …”
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Magnetic resonance imaging does not distinguish Kallmann syndrome from normosmic isolated hypogonadotropic hypogonadism by Małgorzata Kałużna, Katarzyna Katulska, Katarzyna Ziemnicka, Pola Kompf, Bartłomiej Budny, Paweł Komarnicki, Michał Rabijewski, Jerzy Moczko, Jarosław Kałużny, Marek Ruchała

“…Results were compared with age- and sex-matched healthy controls. Genetic diagnosis was conducted in all IHH patients based on next-generation sequencing. …”
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Optimization of In Vivo Studies by Combining Planar Dynamic and Tomographic Imaging: Workflow Evaluation on a Superparamagnetic Nanoparticles System by Maritina Rouchota, Alessio Adamiano, Michele Iafisco, Eirini Fragogeorgi, Irineos Pilatis, Gilles Doumont, Sébastien Boutry, Daniele Catalucci, Argyro Zacharioudaki, George C. Kagadis

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Quantitative N-glycoproteomic analysis reveals glycosylation signatures of plasma immunoglobulin G in systemic sclerosis by Lu Cheng, Lu Cheng, Yanhong Li, Yu Zhou, Yingying Ling, Tong Wu, Zongan Liang, Yinlan Wu, Chunyu Tan, Yi Liu, Yong Zhang

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RNA sequence analysis landscape: A comprehensive review of task types, databases, datasets, word embedding methods, and language models by Muhammad Nabeel Asim, Muhammad Ali Ibrahim, Tayyaba Asif, Andreas Dengel

“…Aberrations in RNA sequence such as dysregulation and mutations can drive a diverse spectrum of diseases including cancers, genetic disorders, and neurodegenerative conditions. …”
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SLC29A1 and SLC29A2 are human nicotinamide cell membrane transporters by Mingyang Chen, Luexiang Yuan, Binxin Chen, Hui Chang, Jun Luo, Hengbin Zhang, Zhongjian Chen, Jiao Kong, Yaodong Yi, Mengru Bai, Minlei Dong, Hui Zhou, Huidi Jiang

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Knowledge of and Adherence to Anaemia Prevention Strategies among Pregnant Women Attending Antenatal Care Facilities in Juaboso District in Western-North Region, Ghana by Prince Kubi Appiah, Daniel Nkuah, Duut Abdulai Bonchel

“…The commonest source of anaemia is nutritional deficiency of iron with evidence suggesting that up to 90% of maternal anaemia may be due to inadequate consumption of dietary iron; however, there are other causes which include worm infestation, HIV infection, and genetic disorders. There are some implemented approaches in Ghana including education and awareness creation, nutritional supplements, and control and prevention of parasitic infections among others to prevent and control anaemia in pregnancy. …”
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Multidisciplinary, multicenter consensus for the care of patients affected with Sturge–Weber syndrome by May El Hachem, Andrea Diociaiuti, Angela Galeotti, Francesca Grussu, Elena Gusson, Alessandro Ferretti, Carlo Efisio Marras, Davide Vecchio, Simona Cappelletti, Mariasavina Severino, Carlo Gandolfo, Simone Reali, Rosa Longo, Carmen D’Amore, Lodovica Gariazzo, Federica Marraffa, Marta Luisa Ciofi Degli Atti, Maria Margherita Mancardi, and the Sturge-Weber Syndrome Multidisciplinary Group

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Paracrine activity of Smurf1-silenced mesenchymal stem cells enhances bone regeneration and reduces bone loss in postmenopausal osteoporosis by Alberto González-González, Itziar Álvarez-Iglesias, Daniel García-Sánchez, Monica Dotta, Ricardo Reyes, Ana Alfonso-Fernández, Alfonso Bolado-Carrancio, Patricia Díaz-Rodríguez, María Isabel Pérez-Núñez, José Carlos Rodríguez-Rey, Jesús Delgado-Calle, Flor M. Pérez-Campo

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High clinical utility of long-read sequencing for precise diagnosis of congenital adrenal hyperplasia in 322 probands by Yunpeng Wang, Gaohui Zhu, Danhua Li, Yu Pan, Rong Li, Ting Zhou, Aiping Mao, Libao Chen, Jing Zhu, Min Zhu

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CRISPR-Cas9 in Cardiovascular Medicine: Unlocking New Potential for Treatment by Klaudia Bonowicz, Dominika Jerka, Klaudia Piekarska, Janet Olagbaju, Laura Stapleton, Munirat Shobowale, Andrzej Bartosiński, Magdalena Łapot, Yidong Bai, Maciej Gagat

“…Cardiovascular diseases (CVDs) remain a significant global health challenge, with many current treatments addressing symptoms rather than the genetic roots of these conditions. The advent of CRISPR-Cas9 technology has revolutionized genome editing, offering a transformative approach to targeting disease-causing mutations directly. …”
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Increased DNA Copy Number Variation Mosaicism in Elderly Human Brain by Darine Villela, Claudia K. Suemoto, Renata Leite, Carlos Augusto Pasqualucci, Lea T. Grinberg, Peter Pearson, Carla Rosenberg

“…CNVs represent a significant source of genetic variation in the human genome and have been implicated in several disorders and complex traits, representing a potential mechanism that contributes to neuronal diversity and the etiology of several neurological diseases and provides new insights into the normal, complex functions of the brain. …”
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Gut bacterium Intestinimonas butyriciproducens improves host metabolic health: evidence from cohort and animal intervention studies by Elena Rampanelli, Nadia Romp, Antonio Dario Troise, Jakshana Ananthasabesan, Hao Wu, Ismail Sahin Gül, Sabrina De Pascale, Andrea Scaloni, Fredrik Bäckhed, Vincenzo Fogliano, Max Nieuwdorp, Thi Phuong Nam Bui

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Targeted Inhibition of GATA-3 by Pyrrothiogatain: Implications for Adipocyte Biology and Inflammatory Response by Shamma Almuraikhy, Maha Alser, Khaled Naja, Aisha Al-Malki, Nayef A. Mazloum, Mohamed A. Elrayess

“…GATA-3 is a master regulator of preadipocyte differentiation and function. Pharmacological or genetic targeting of GATA-3 will allow us to understand the function of GATA-3 in regulating metabolism, insulin signaling, and inflammation. …”
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Atherosclerotic Risk Factors in Children with Celiac Disease by Anna Rybak, Aldona Wierzbicka, Piotr Socha, Anna Stolarczyk, Bożena Cukrowska, Łukasz Obrycki, Zbigniew Wawer, Roman Janas, Beata Oralewska, Anna Szaflarska-Popławska, Barbara Iwańczak, Elżbieta Cyrta-Jarocka, Urszula Grzybowska-Chlebowczyk, Wojciech Cichy, Grażyna Czaja-Bulsa, Jerzy Socha

“…Celiac disease (CD) is a complex autoimmune disorder occurring in genetically susceptible individuals. …”
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Neuroimaging stratification reveals the striatal vulnerability to stress as a risk for schizophrenia by Xiaoqian Ma, Nana Feng, Lena Palaniyappan, Luolong Cao, Zixin Gu, Jujiao Kang, Liu Yuan, Lijun Ouyang, Yujue Wang, Chunwang Li, Ke Jin, Xiaogang Chen, Jianfeng Feng, Ying He, Qiang Luo

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Cardiomyopathy and kidney function in agalsidase beta‐treated female Fabry patients: a pre‐treatment vs. post‐treatment analysis by Christoph Wanner, Ulla Feldt‐Rasmussen, Ana Jovanovic, Aleš Linhart, Meng Yang, Elvira Ponce, Eva Brand, Dominique P. Germain, Derralynn A. Hughes, John L. Jefferies, Ana Maria Martins, Albina Nowak, Bojan Vujkovac, Frank Weidemann, Michael L. West, Alberto Ortiz

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Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease by Lindsey Van Haute, Petra Páleníková, Jia Xin Tang, Pavel A Nash, Mariella T Simon, Angela Pyle, Monika Oláhová, Christopher A Powell, Pedro Rebelo-Guiomar, Alexander Stover, Michael Champion, Charulata Deshpande, Emma L Baple, Karen L Stals, Sian Ellard, Olivia Anselem, Clémence Molac, Giulia Petrilli, Laurence Loeuillet, Sarah Grotto, Tania Attie-Bitach, Jose E Abdenur, Robert W Taylor, Michal Minczuk

“…Within this group, an increasing number of families have been identified, where Mendelian genetic disorders implicate defective mitochondrial RNA biology. …”
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LRRK2 Mutations and Asian Disease-Associated Variants in the First Parkinson’s Disease Cohort from Kazakhstan by Rauan Kaiyrzhanov, Akbota Aitkulova, Chingiz Shashkin, Nazira Zharkinbekova, Mie Rizig, Elena Zholdybayeva, Zharkyn Jarmukhanov, Vadim Akhmetzhanov, Gulnaz Kaishibayeva, Talgat Khaibullin, Altynay Karimova, Serik Akshulakov, Askhat Bralov, Nurlan Kissamedenov, Zhanar Seidinova, Anjela Taskinbayeva, Aliya Muratbaikyzy, Henry Houlden

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Cannabinoid type-1 receptors in CaMKII neurons drive impulsivity in pathological eating behavior by Elena Martin-Garcia, Laura Domingo-Rodriguez, Beat Lutz, Rafael Maldonado, Inigo Ruiz de Azua

“…These innate mechanisms becom detrimental in obesogenic environment promoting obesity and related comorbidities, including mood disorders. This study aims at elucidating the role of the endocannabinoid system in energy accumulation and hedonic feeding. …”
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