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. …”
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Is the Gut Microbiota a New Factor Contributing to Obesity and Its Metabolic Disorders? by Kristina Harris, Amira Kassis, Geneviève Major, Chieh J. Chou

“…Gut microbiota has evolved with humans as a mutualistic partner, but dysbiosis in a form of altered gut metagenome and collected microbial activities, in combination with classic genetic and environmental factors, may promote the development of metabolic disorders. …”
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The Impact of Transposable Elements in Genome Evolution and Genetic Instability and Their Implications in Various Diseases by Selvam Ayarpadikannan, Heui-Soo Kim

“…For the past two decades, many studies have shown that TEs are the causative factors of various genetic disorders and cancer. TEs are a subject of interest worldwide, not only in terms of their clinical aspects but also in basic research, such as evolutionary tracking. …”
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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. …”
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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

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First report of hypoplastic left heart syndrome in 3p- syndrome and review of candidate genes by Ana Kalise Böttcher, Monique Banik Siqueira, Natasha Malgarezi, Marcela Rodrigues Nunes, Rafaella Mergener, Luisa Pigatto Kalil, Patrícia Trevisan, Paulo Ricardo Gazzola Zen

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Identification of Bacterial Lipopolysaccharide-Associated Genes and Molecular Subtypes in Autism Spectrum Disorder by He Y, He Y, Cheng B

“…A significant correlation was found between these pathways and distinct immune cell subtypes, suggesting a potential mechanism for neuroinflammation and immune cell infiltration in ASD.Conclusion: Our research highlights the role of BLI-associated genes in the immune responses of individuals with ASD, indicating their contribution to the disorder’s typification. The interplay between bacterial components, genetic predisposition, and immune dysregulation offers new insights for understanding ASD and developing personalized interventions.Keywords: autism, bacterial metabolites, immune cell infiltration, GEO, molecular subtypes, immune responses…”
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Geographical distribution of eight neuromuscular disorders in the Netherlands based on a nationwide registry by Johanna C.W. Deenen, André L.M. Verbeek, Pieter A. van Doorn, Catharina G. Faber, Anneke J. van der Kooi, Nicolette C. Notermans, Jan J.G.M. Verschuuren, Baziel G.M. van Engelen, Nicol C. Voermans

“…Geographical mapping of the specific disorders is expected to provide valuable insights into clustering of the conditions, which points to possible environmental and genetical determinants. …”
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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. …”
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Familial Case of Pelizaeus-Merzbacher Disorder Detected by Oligoarray Comparative Genomic Hybridization: Genotype-to-Phenotype Diagnosis by Kimia Najafi, Roxana Kariminejad, Kaveh Hosseini, Azadeh Moshtagh, Gole Maryam Abbassi, Neda Sadatian, Masood Bazrgar, Ariana Kariminejad, Mohamad Hassan Kariminejad

“…However, recent developments in genetic diagnosis have shown that, in many congenital and sporadic disorders lacking specific phenotypic manifestations, a genotype-to-phenotype approach can be conclusive. …”
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Sleep in Genetically Confirmed Pantothenate Kinase-Associated Neurodegeneration: A Video-Polysomnographic Study by Maria Livia Fantini, Giovanni Cossu, Andrea Molari, Monia Cabinio, Ozlem Uyanik, Roberto Cilia, Maurizio Melis, Angelo Antonini, Luigi Ferini-Strambi

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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. …”
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Neurodevelopmental Disorders and Connective Tissue-Related Symptoms: An Exploratory Case-Control Study in Children by Leonardo Zoccante, Gianfranco Di Gennaro, Erika Rigotti, Marco Luigi Ciceri, Andrea Sbarbati, Marco Zaffanello

“…<b>Background/Objectives</b>: Autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), and Tourette syndrome (TS) are neurodevelopmental disorders (NDDs) with overlapping symptoms, suggesting a partially shared genetic origin. …”
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From Basic Visual Science to Neurodevelopmental Disorders: The Voyage of Environmental Enrichment-Like Stimulation by Alan Consorti, Gabriele Sansevero, Claudia Torelli, Nicoletta Berardi, Alessandro Sale

“…Genes and environmental stimuli cooperate in the regulation of brain development and formation of the adult neuronal architecture. Genetic alterations or exposure to perturbing environmental conditions, therefore, can lead to altered neural processes associated with neurodevelopmental disorders and brain disabilities. …”
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Guiding Lights in Genome Editing for Inherited Retinal Disorders: Implications for Gene and Cell Therapy by Carla Sanjurjo-Soriano, Vasiliki Kalatzis

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Multiple Approaches to Investigate the Transport and Activity-Dependent Release of BDNF and Their Application in Neurogenetic Disorders by David Hartmann, Jana Drummond, Erik Handberg, Sharday Ewell, Lucas Pozzo-Miller

“…Studies utilizing genetic and pharmacological manipulations in rodent models and neuronal cultures have revealed myriad roles of brain-derived neurotrophic factor (BDNF). …”
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Prenatal Characteristics of Infants with a Neuronal Migration Disorder: A National-Based Study by Estelle Naumburg, Bo Strömberg, Helle Kieler

“…Pathogenesis of malformations of the central nervous system includes both genetic and environmental factors. Few epidemiological studies have addressed the impact of prenatal exposures. …”
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Oligonucleotides as a Novel Therapeutic Approach: An Innovative Area for Drug Delivery in Neurological Disorders by Yasir Qasim Almajidi, Rana Kadum Muslim, Yaseen T. khalf

“…Ongoing preclinical and clinical studies are assessing the safety and efficacy of Antisense Oligonucleotide) ASOs (in multiple genetic and acquired neurological conditions. The current review provides an update on novel approaches, preclinical, clinical evidence, and delivery route of ASOs. …”
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The left amygdala is genetically sexually-dimorphic: multi-omics analysis of structural MRI volumes by Yuanyuan Gui, Geyu Zhou, Shuya Cui, Hongyu Li, Hui Lu, Hongyu Zhao

“…Abstract Brain anatomy plays a key role in complex behaviors and mental disorders that are sexually divergent. While our understanding of the sex differences in the brain anatomy remains relatively limited, particularly of the underlying genetic and molecular mechanisms that contribute to these differences. …”
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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

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