Inborn Errors of Immunity Presenting with Early-Onset Severe Atopy by Nipat Chuleerarux, Nadia Makkoukdji, Travis Satnarine, Jessica Elise Kuhn, Tanawin Nopsopon, Peerada Valyasevi, Fernanda Bellodi Schmidt, Gary Kleiner, Melissa Gans

“…Inborn errors of immunity (IEIs), also known as primary immunodeficiencies, are a group of genetic disorders affecting the development and function of the immune system. …”
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Variants in the 3′ End of SLC6A3 in Northwest Han Population with Parkinson’s by Peiye Chang, Yongwang Fu, Ping Zhao, Chunmei Wang, Mingfang Jiang, Rui Li, Yulin He

“…Parkinson’s disease (PD) is one of the most common neurodegenerative disorders in neurology. It is possible that multifactorial and genetic factors are related to its pathogenesis. …”
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Multi-functional role of apolipoprotein E in neurodegenerative diseases by Sadequl Islam, Arshad Noorani, Yang Sun, Makoto Michikawa, Kun Zou

“…Genetic diversity in the apolipoprotein E (ApoE) gene has been identified as the major susceptibility genetic risk factor for sporadic Alzheimer’s disease (SAD). …”
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GENOME POLITICS: STRATEGY AND TACTICS by Jonas Rubikas

“… Genome is the whole genetic information of the cell including nuclear, mitochondrial, plastid and other DNA or RNA elements. …”
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Association of CYP2C9∗3 and CYP2C8∗3 Non-Functional Alleles with Ibuprofen-Induced Upper Gastrointestinal Toxicity in a Saudi Patient by Amina M. Bagher

“…This case demonstrates the importance of contemplating CYP2C9 and CYP2C8 genetic variations when administrating NSAIDs like ibuprofen. …”
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Congenital malformations in children of epileptic pregnant women in the Cienfuegos province (2008-2018) by María Soledad Vilches León, Carmen Niurka Piña Loyola, Maylé Santos Solís, Vivian Rosa Vázquez Martínez, Cristóbal Jorge Torres González, Niurys Gonzales Cano

“…<p><strong>Background</strong>: in pregnant women, epilepsy is one of the most frequent neurological disorders, considered high risk due to the complications it produces. …”
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Pituitary adenoma: literature review and association with TAS2R16 (rs978739, rs1357949) gene polymorphisms by E. Pileckaitė, G. Gedvilaitė, L. Kriaučiūnienė

“…Considering the influence of environmental factors and genetic alterations that affect the occurrence of PA, new genetic markers can be searched to detect this disease. …”
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Multi-omics approaches for understanding gene-environment interactions in noncommunicable diseases: techniques, translation, and equity issues by Robel Alemu, Nigussie T. Sharew, Yodit Y. Arsano, Muktar Ahmed, Fasil Tekola-Ayele, Tesfaye B. Mersha, Azmeraw T. Amare

“…Abstract Non-communicable diseases (NCDs) such as cardiovascular diseases, chronic respiratory diseases, cancers, diabetes, and mental health disorders pose a significant global health challenge, accounting for the majority of fatalities and disability-adjusted life years worldwide. …”
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A Roadmap to the Brittle Bones of Cystic Fibrosis by Ashwini P. Gore, Soon Ho Kwon, Antine E. Stenbit

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Closing the gap in dementia research by community-based cohort studies in the Chinese populationResearch in context by Xiaowen Zhou, Zhenxu Xiao, Wanqing Wu, Yuntao Chen, Changzheng Yuan, Yue Leng, Yao Yao, Qianhua Zhao, Albert Hofman, Eric Brunner, Ding Ding

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VDR Polymorphisms in Autoimmune Connective Tissue Diseases: Focus on Italian Population by Andrea Latini, Giada De Benedittis, Carlo Perricone, Serena Colafrancesco, Paola Conigliaro, Fulvia Ceccarelli, Maria Sole Chimenti, Lucia Novelli, Roberta Priori, Fabrizio Conti, Cinzia Ciccacci, Paola Borgiani

“…Our results show that the explored VDR polymorphisms are significantly associated with autoimmune connective tissue disorders and support the hypothesis that the genetic variability of VDR gene may be involved in susceptibility to these diseases in Italian population.…”
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Maltreatment-Associated Psychiatric Problems: An Example of Environmentally Triggered ESSENCE? by Helen Minnis

“…Children with MAPP are a hidden population in the community and, in clinical settings, their problems can seem overwhelming. Individual disorders associated with maltreatment are discussed as well as the overlap between these disorders and their shared environmental and genetic predisposing factors. …”
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Intracranial germ cell tumors: advancement in genomic diagnostics and the need for novel therapeutics by Kee Kiat Yeo, Kee Kiat Yeo, Joanna Gell, Joanna Gell, Joanna Gell, Girish Dhall, Girish Dhall, Ching Lau, Ching Lau, Ching Lau

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Tandem repeat expansions and copy number variations as risk factors and diagnostic tools for amyotrophic lateral sclerosis by Eleonora Sabetta, Davide Ferrari, Locatelli Massimo, Sulev Kõks, Sulev Kõks

“…Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disorder leading to upper and lower motoneurons degeneration. …”
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The Zebrafish model in dermatology: an update for clinicians by Irene Russo, Emma Sartor, Laura Fagotto, Anna Colombo, Natascia Tiso, Mauro Alaibac

“…Several studies have proved that there is a high level of similarity between human and zebrafish genomes, which encourages the use of zebrafish as a model for understanding human genetic disorders, including cancer. Interestingly, zebrafish skin shows several similarities to human skin, suggesting that this model organism is particularly suitable for the study of neoplastic and inflammatory skin disorders. …”
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Brief Overview of a Decade of Genome-Wide Association Studies on Primary Hypertension by Afifah Binti Azam, Elena Aisha Binti Azizan

“…Primary hypertension is widely believed to be a complex polygenic disorder with the manifestation influenced by the interactions of genomic and environmental factors making identification of susceptibility genes a major challenge. …”
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Multi-omic spatial effects on high-resolution AI-derived retinal thickness by V. E. Jackson, Y. Wu, R. Bonelli, J. P. Owen, L. W. Scott, S. Farashi, Y. Kihara, M. L. Gantner, C. Egan, K. M. Williams, B. R. E. Ansell, A. Tufail, A. Y. Lee, M. Bahlo

“…Analysis of common genomic variants, metabolomic, blood and immune biomarkers, disease PheCodes and genetic scores across a fine-scale macular thickness grid, reveals multiple novel genetic loci including four on the X chromosome; retinal thinning associated with many systemic disorders including multiple sclerosis; and multiple associations to correlated metabolites that cluster spatially in the retina. …”
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CLN6‐related continuum phenotype caused by aberrant splicing by Federica Invernizzi, Barbara Castellotti, Chiara Reale, Celeste Panteghini, Isabel Colangelo, Roberta Solazzi, Francesca Ragona, Lucio Giordano, Jessica Galli, Davide Rossi Sebastiano, Gianluca Marucci, Valeria Cuccarini, Giuseppe Didato, Cinzia Gellera, Barbara Garavaglia, Tiziana Granata, Laura Canafoglia

“…Abstract Neuronal ceroid lipofuscinoses (NCLs) are genetically heterogeneous neurodegenerative disorders, characterized by progressive cognitive and motor decline, epilepsy, visual impairment, and shortened life‐expectancy. …”
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Investigation of the Molecular Mechanism of Asthma in Meishan Pigs Using Multi-Omics Analysis by Weilong Tu, Hongyang Wang, Yingying Zhang, Ji Huang, Yuduan Diao, Jieke Zhou, Yongsong Tan, Xin Li

“…Asthma has been extensively studied in humans and animals, but the molecular mechanisms underlying asthma in Meishan pigs, a breed with distinct genetic and physiological characteristics, remain elusive. …”
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Evaluation of Associated Structural and Chromosomal Abnormalities in Patients with Fetal Cerebral Ventriculomegaly Detected in Ultrasonographic Imaging by Erkan Cagliyan, Samican Ozmen, Sureyya Saridas Demir, Ceren Aydin, Egehan Bilen, Handan Guleryuz, Elif Yasar, Derya Ercal, Elcin Bora, Tufan Cankaya

“…This study aims to evaluate patients with fetal cerebral ventriculomegaly for associated structural and genetic abnormalities and their obstetric and neonatal outcomes. …”
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