Development of RNA interference-based therapy for rare genetic diseases by Milya Urfa Ahmad, Syarifah Dewi

“…Despite these obstacles, RNAi-based therapy holds significant potential for revolutionize the treatment of genetic disorders. …”
Get full text

Editorial: Multiomics approaches for understanding autism spectrum disorder by Jernej Kovac, Branko Aleksic, Danijela Krgovic, Danijela Krgovic

Get full text

Mechanisms of bacterial-to-host interaction and their disorders at inflammatory bowel diseases by Ye. A. Poluektova, O. S. Lyashenko, A. V. Korolev, O. S. Shifrin, V. T. Ivashkin

“…To discuss modern concepts on interaction of bacterial cells with human body, and disorders of micro-and macroorganism interaction at inflammatory bowel diseases (IBD).Summary. …”
Get full text

Insights into audio-visual temporal perception in bipolar disorder and schizophrenia by Monica Gori, Maria Bianca Amadeo, Andrea Escelsior, Davide Esposito, Alberto Inuggi, Riccardo Guglielmo, Luis Polena, Juxhin Bode, Beatriz Pereira da Silva, Mario Amore, Gianluca Serafini

Get full text

Clinical and genetic characteristics and medical approach in attenuated form of familial adenomatosis of the colon by A. M. Kuzminov, A. V. Karpukhin, I. Yu. Sachkov, Yu. Yu. Chubarov, T. A. Savel’yeva

“…To study clinical and genetic characteristics of the attenuated form of familial adenomatosis of the colon. …”
Get full text

Caffey Disease: Genetically Proven Case Report of 2-month-old Indian Infant by Vagta Ram, Kunal Kumar, Krishnan Rajeshwari, Deepak Kumar

“…Caffey disease, or infantile cortical hyperostosis, is a rare genetic disorder characterized by abnormal bone formation and swelling of limbs in infants. …”
Get full text

Pulmonary vascular malformations in genetic epileptic encephalopathy: A rare, fatal case report by N. Garancini, M. Ghezzi, A. Farolfi, V. Guaia, G. Canali, V. Fabiano, G.V. Zuccotti, E. D'Auria

Get full text

Metabolic and Genetic Determinants of Lipid Metabolism Disruption in Non-Alcoholic Fatty Liver Disease by O. Yu. Kytikova, T. P. Novgorodtseva, Yu. K. Denisenko, D. A. Kovalevsky

“…To present literature data on the metabolic and genetic mechanisms of impaired fatty acid (FA) synthesis in the development and progression of non-alcoholic fatty liver disease (NAFLD).General findings. …”
Get full text

Genetically edited human placental organoids cast new light on the role of ACE2 by Anya L. Arthurs, Bianca Dietrich, Martin Knöfler, Caleb J. Lushington, Paul Q. Thomas, Fatwa Adikusuma, Jessica M. Williamson, Susan Babikha, Tyla Damhuis, Tanja Jankovic-Karasoulos, Melanie D. Smith, Kirsty G. Pringle, Claire T. Roberts

Get full text

Machine learning and facial recognition for down syndrome detection: A comprehensive review by Khosro Rezaee

Subjects: Get full text

Autism spectrum disorder: definition, global epidemiology, prevalence in Poland and worldwide, and heredity by Martyna Zakrocka, Marta Gruszka, Paulina Polańska, Maria Kubicka

“…Genetic studies highlight key hereditary components, offering insights for early intervention. …”
Get full text

The emerging role of glycine receptor α2 subunit defects in neurodevelopmental disorders by Sean D. Fraser, Sean D. Fraser, Robert J. Harvey, Robert J. Harvey

“…Rare neurodevelopmental disorders (NDDs) are one of the most significant unmet challenges in healthcare due to their lifelong nature, high management costs, and recurrence within families. …”
Get full text

Psychiatric disorders in children and adolescents with temporal lobe epilepsy: A narrative review by Pietro Cappelletto, Claudia Accolla, Martina Preti, Tiziana Pisano, Carmen Barba, Renzo Guerrini

“…Abstract People with epilepsy (PWE) are at higher risk of psychiatric disorders (PD), disability, and reduced quality of life than the general population, especially in childhood and adolescence and when seizures originate from the temporal lobe. …”
Get full text

Determination of damaging SNP’s in SHANK3 gene with in silico methods by İrem Gülfem Albayrak, Şeyma Yektar, Süeda Kaya

“…This genetic association provides insight concerning SHANK3's potential significance in the disorder's development. …”
Get full text

Dissociable genetic influences on eye movements during abstract versus naturalistic social scene viewing in infancy by Ana Maria Portugal, Mark J. Taylor, Kristiina Tammimies, Angelica Ronald, Terje Falck-Ytter

Get full text

Unlocking precision medicine: clinical applications of integrating health records, genetics, and immunology through artificial intelligence by Yi-Ming Chen, Tzu-Hung Hsiao, Ching-Heng Lin, Yang C. Fann

Get full text

Imaging flow cytometry-based cellular screening elucidates pathophysiology in individuals with Variants of Uncertain Significance by Irena Josephina Johanna Muffels, Hans R. Waterham, Giuseppina D’Alessandro, Guido Zagnoli-Vieira, Michael Sacher, Dirk J. Lefeber, Celine Van der Vinne, Chaim M. Roifman, Koen L. I. Gassen, Holger Rehmann, Desiree Y. Van Haaften-Visser, Edward S. S. Nieuwenhuis, Stephen P. Jackson, Sabine A. Fuchs, Femke Wijk, Peter van Hasselt

Subjects: Get full text

Causal Links Between Brain Functional Networks and Endometriosis: A Large-Scale Genetic-Driven Observational Study by Feng S, Wang Y, Liu S, Zhang Y, He L

“…Genetic Instrument Selection was performed to identify valid instrumental variables, ensuring their independence from confounders and strong association with the exposure. …”
Get full text

Long term adult visual plasticity after the developmental critical period in genetically determined peripheral visual loss by Otília C. d’Almeida, Joana M. Sampaio, Sónia Ferreira, Eduardo D. Silva, Miguel Castelo-Branco

“…Here we addressed this issue by studying visual plasticity in a genetically determined retinal disorder, Retinitis Pigmentosa, in which peripheral visual loss emerges not long after the critical period, in teenage years. …”
Get full text

Whole Exome Sequencing Reveals Rare Variants in Genes Associated with Metabolic Disorders in Women with PCOS by Priyal Sharma, Ashutosh Halder, Manish Jain, Manish Tripathi

Get full text