Population genetics of spinoсerebellar ataxias caused by polyglutamine expansions by A. N. Shuvaev, O. S. Belozor, M. V. Smolnikova, D. A. Yakovleva, Andr. N. Shuvaev, O. M. Kazantseva, E. A. Pozhilenkova, O. I. Mozhei, S. Kasparov

“…Hereditary disorders of the neuronal system are some of the most important problems of medicine in the XXI century. …”
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Neurophysiological Endophenotypes, CNS Disinhibition, and Risk for Alcohol Dependence and Related Disorders by Bernice Porjesz, Madhavi Rangaswamy

“…These findings underscore the utility of quantitative neurophysiological endophenotypes in the study of the genetics of complex disorders. We will present our recent genetic findings related to brain oscillations and Central Nervous System (CNS) disinhibition.…”
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Application of the New Classification on Patients with a Disorder of Sex Development in Indonesia by A. Zulfa Juniarto, Yvonne G. van der Zwan, Ardy Santosa, Remko Hersmus, Frank H. de Jong, Renske Olmer, Hennie T. Bruggenwirth, Axel P. N. Themmen, Katja P. Wolffenbuttel, Leendert H. J. Looijenga, Sultana M. H. Faradz, Stenvert L. S. Drop

“…Disorder of sex development (DSD) patients in Indonesia most often do not receive a proper diagnostic evaluation and treatment. …”
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Risk factors and treatment approaches to seasonal affective disorder: a review by V. Jurgaitytė, N. Khawaja, J. Dijokas, P. Rimkevičiūtė

“…Besides environmental risk factors, such as day length and sunlight exposure, genetics and neurochemical changes in the brain also play a role in SAD patients showing that this disorder is heterogeneous. …”
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Everyday Activities for Children with Mitochondrial Disorder: A Retrospective Chart Review by Marieke Lindenschot, Imelda J. M. de Groot, Saskia Koene, Ton Satink, Esther M. J. Steultjens, Maria W. G. Nijhuis-van der Sanden

“…Therefore, this pilot study explored the activities reported in patient records of a heterogeneous group of children with genetically confirmed mitochondrial disorders. Methods. …”
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The Genetic Perspective of Familial Glucocorticoid Deficiency: In Silico Analysis of Two Novel Variants by Katayoun Heshmatzad, Nejat Mahdieh, Ali Rabbani, Abdolah Didban, Bahareh Rabbani

“…Familial glucocorticoid deficiency is a rare autosomal recessive genetic disorder which belongs to a group of primary adrenal insufficiency (PAI) and is mainly caused by mutations in the MC2R and MRAP genes. …”
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Genetic Variations in Nucleotide Excision Repair Pathway Genes and Risk of Allergic Rhinitis by Wenlong Liu, Qingxiang Zeng, Yinhui Zeng, Yiquan Tang, Renzhong Luo

“…Allergic rhinitis (AR) is the most frequent inflammatory disorder in the nasal mucosa that remains unclear etiology. …”
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Genetic Variants of Neurotransmitter-Related Genes and miRNAs in Egyptian Autistic Patients by Ahmed M. Salem, Samira Ismail, Waheba A. Zarouk, Olwya Abdul Baky, Ahmed A. Sayed, Sawsan Abd El-Hamid, Sohair Salem

“…Autism is a neurodevelopmental disorder with indisputable evidence for a genetic component. …”
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Identification of Interactive Genetic Loci Linked to Insulin Resistance in Metabolic Syndrome—An Update by Imadeldin Elfaki, Rashid Mir, Mohamed E. Elnageeb, Abdullah Hamadi, Zeyad M. Alharbi, Ruqaiah I. Bedaiwi, Jamsheed Javid, Tariq Alrasheed, Dalal Alatawi, Basmah M. Alrohaf, Mohammed K. Abunab, Turki Ahmed Muqri

“…Metabolic syndrome is a metabolic disorder characterized by hypertension, dyslipidemia, impaired glucose tolerance, and abdominal obesity. …”
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Genetic Analysis of Undiagnosed Juvenile GM1-Gangliosidosis by Microarray and Exome Sequencing by Ahmed Bouhouche, Houyam Tibar, Yamna Kriouale, Mohammed Jiddane, Imane Smaili, Naima Bouslam, Ali Benomar, Mohamed Yahyaoui, Elmostafa El Fahime

“…GM1 gangliosidosis is an autosomal recessive lysosomal storage disorder due to mutations in the lysosomal acid 3-galactosidase gene, GLB1. …”
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Psychiatric comorbidities in epilepsy: population co-occurrence, genetic correlations and causal effects by Neil M Davies, Dheeraj Rai, Harriet Forbes, Christina Dalman, Torbjörn Tomson, Daniel Berglind, Michael Lundberg, Cecilia Magnusson, Craig Newschaffer, Brian K Lee, Viktor H Ahlqvist, Paul Madley-Dowd, Christina Dardani, Jessica Rast, Caichen Zhong, Renee M Gardner, Kristen Lyall

“…For example, we observed a genetic correlation between epilepsy and attention-deficit/hyperactivity disorder (rg=0.18, 95% CI 0.09 to 0.27, p<0.001)—a correlation that was more pronounced in focal epilepsy (rg=0.23, 95% CI 0.09 to 0.36, p<0.001). …”
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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. …”
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Disordered and Multiple Destinations Path Planning Methods for Mobile Robot in Dynamic Environment by Yong-feng Dong, Hong-mei Xia, Yan-cong Zhou

“…In the smart home environment, aiming at the disordered and multiple destinations path planning, the sequencing rule is proposed to determine the order of destinations. …”
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Epistasis in Modifying Genes: Key Factor to Differentiate Clinical Subtypes in Neurodevelopmental Disorders by José Ignacio Lao Villadóniga

“…They include attention deficit and hyperactivity disorders, autism spectrum disorders, communication problems, intellectual development problems, as well as various specific learning disorders and various motor disorders. …”
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Non-Viral Delivery Systems to Transport Nucleic Acids for Inherited Retinal Disorders by Md Jobair Jony, Ameya Joshi, Alekha Dash, Surabhi Shukla

“…Inherited retinal disorders (IRDs) represent a group of challenging genetic conditions that often lead to severe visual impairment or blindness. …”
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Androgen Excess Disorders in Women: The Severe Insulin-Resistant Hyperandrogenic Syndrome, HAIR-AN by Kristin M. Rager, Hatim A. Omar

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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. …”
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Tissue Inhibitor of Metalloproteinase-2 Polymorphisms and Risk for HIV-Associated Neurocognitive Disorder by HariOm Singh, Sushma Jadhav, Dharmesh Samani, Sumitra Nain

“…The imbalance between MMPs and TIMPs is associated with the HIV dissemination tissue damage pathology neurodegenerative disorders, including HAND. Genetic variations in the TIMP gene may modulate the neurocognitive disorder in HIV patients. …”
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Genetic Correction of Sickle Cell Anemia and β-Thalassemia: Progress and New Perspective by Ajay Perumbeti, Punam Malik

“…Here, a review is provided of the current substantial progress in genetic correction of β-globin disorders.…”
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Immune Disorders in Hashimoto’s Thyroiditis: What Do We Know So Far? by Aleksandra Pyzik, Ewelina Grywalska, Beata Matyjaszek-Matuszek, Jacek Roliński

“…This review of literature attempts to identify the factors that are involved in the pathogenesis of Hashimoto thyroiditis, an immune defect in an individual with genetic susceptibility accompanied with environmental factors. …”
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