Application of copy number variation sequencing combined with whole exome sequencing in prenatal left–right asymmetry disorders by Yu Qin, Muon Senglong, Koksear Touch, Juan Xiao, Ruijie Fang, Qingling kang, Lei Fan, Shufang Li, Jing Liu, Jianli Wu, Yuanyuan Wu, Xinwei Shi, Haiyi Liu, Xun Gong, Xingguang Lin, Ling Feng, Suhua Chen, Wei Li

“…Abstract Background Left–right (LR) asymmetry disorders present a complex etiology, with genetic factors emerging as a primary contributor. …”
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A Boy With KIF11-Associated Disorder Along With ADHD and ASD: Collaboration Between Paediatrics and Child Psychiatry by Annelien Marcelis, Evelyne Van Reet

“…Moreover, gaining a deeper understanding of the higher prevalence of ASD and ADHD in individuals with KIF11 mutations could offer valuable insights into the genetic mechanisms underlying neurodevelopmental disorders.…”
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A Case of Physically Abused OCD Patient Who Physically Abused Her own Child by Tuğba AYAZ, Ayşe Gül YILMAZ ÖZPOLAT, Damla YÜCEL, Umut ALTUNÖZ

“…It was suggested that along with genetic factors various psychosocial factors may play a role in the development of Obsessive Compulsive Disorder (OCD). …”
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Assessing the Causal Relationship Between Various Immune Cells and Attention Deficit Hyperactivity Disorder: Mendelian Randomization Study by Qian Ge, Zhongyan Li, Weijing Meng, Chen Cai, Mengdi Qiu, Yafei Liu, Haibo Zhu

“…ABSTRACT Background Immune system modulation has been shown to have a significant impact on attention deficit hyperactivity disorder (ADHD). Mendelian randomization (MR) analysis was used in this study to investigate the potential role of different immune cells in the development of ADHD to provide therapy and preventative alternatives. …”
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A Case of Physically Abused OCD Patient Who Physically Abused Her own Child by Tuðba AYAZ, Ayþe Gül YILMAZ ÖZPOLAT, Damla YÜCEL, Umut ALTUNÖZ

“…It was suggested that along with genetic factors various psychosocial factors may play a role in the development of Obsessive Compulsive Disorder (OCD). …”
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Stress-sensitive neurosignalling in depression: an integrated network biology approach to candidate gene selection for genetic association analysis by J. Anke M. van Eekelen, Justine A. Ellis, Craig A. Olsson, Craig E. Pennell, Jeff Craig, Richard Saffery, Eugen Mattes

“…Genetic risk for depressive disorders is poorly understood despite consistent suggestions of a high heritable component. …”
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Clinical characterization of a novel episodic ataxia in young working Cocker Spaniels by Clara Sarró, Catherine Stalin, Rodrigo Gutierrez‐Quintana, Ana Cloquell

“…Abstract Background Episodic ataxias (EAs) are a rare group of paroxysmal movement disorders (PMD) described in human medicine with only one suspected case described in veterinary literature. …”
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Cognitive and Emotional Resilience in Parents with Children with Autism Spectrum Disorder During COVID-19: The Role of Promoting Variables by Aziz Sarhani-Robles, María Guillot-Valdés, María Auxiliadora Robles-Bello, David Sánchez-Teruel

“…The pandemic resulting from the coronavirus disease (COVID-19) has entailed social and psychological consequences for the Spanish population, with children with autism spectrum disorder (ASD) being particularly vulnerable due to their genetic characteristics. …”
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Proportion of Chromosomal Disorders and Their Patterns among Births with Congenital Anomalies in Africa: A Systematic Review and Meta-Analyses by Teshome Gebremeskel Aragie, Girma Seyoum Gedion

“…Worldwide, surveys have shown that the frequency of chromosomal disorders among births with congenital anomalies varies greatly from country to country. …”
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The known genetic variants of BRCA1, BRCA2 and NOD2 in pancreatitis and pancreatic cancer risk assessment by Jarosław Matykiewicz, Wioletta Adamus-Białek, Monika Wawszczak-Kasza, Bartosz Molasy, Magdalena Kołomańska, Rusłan Oblap, Łukasz Madej, Dorota Kozieł, Stanisław Głuszek

“…It can be considered as a genetic risk factor that predisposes to cancer development. …”
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Genetic and pharmacological targeting of HINT2 promotes OXPHOS to alleviate inflammatory responses and cell necrosis in acute pancreatitis by Jiaqi Yao, Yuhong Jiang, Pengcheng Zhang, Yifan Miao, Xiajia Wu, Hang Lei, Zhijun Xie, Yong Tian, Xianlin Zhao, Juan Li, Lv Zhu, Meihua Wan, Wenfu Tang

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Causal associations between iron levels in subcortical brain regions and psychiatric disorders: a Mendelian randomization study by Wei Du, Biqiu Tang, Senhao Liu, Wenjing Zhang, Su Lui

“…The genetic instrumental variables linked to iron levels and psychiatric disorders were derived from the genome-wide association studies data of the UK Biobank Brain Imaging and Psychiatric Genomics Consortium. …”
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Neuronal density in the brain cortex and hippocampus in Clsnt2-KO mouse strain modeling autistic spectrum disorder by I. N. Rozhkova, S. V. Okotrub, E. Yu. Brusentsev, E. E. Uldanova, E. А. Chuyko, T. V. Lipina, T. G. Amstislavskaya, S. Ya. Amstislavsky

“…The mechanisms and the origin of these disorders are not yet understood and thus far there is a lack of prophylactic measures for these disorders. …”
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Binge Eating Disorder Mediates Links between Symptoms of Depression, Anxiety, and Caloric Intake in Overweight and Obese Women by Roseann E. Peterson, Shawn J. Latendresse, Lindsay T. Bartholome, Cortney S. Warren, Nancy C. Raymond

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Prenatal inflammation impairs early CD11c-positive microglia induction and delays myelination in neurodevelopmental disorders by Kazuya Fuma, Yukako Iitani, Kenji Imai, Takafumi Ushida, Sho Tano, Kosuke Yoshida, Akira Yokoi, Rika Miki, Hiroyuki Kidokoro, Yoshiaki Sato, Yuichiro Hara, Tomoo Ogi, Kohei Nomaki, Makoto Tsuda, Okiru Komine, Koji Yamanaka, Hiroaki Kajiyama, Tomomi Kotani

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Functional analysis of a novel homozygous missense IVD gene variant: a case report with dual genetic diagnoses by Yuying Zhu, Ke Wu, Hanying Wen

“…Our in vitro functional and computer simulation findings revealed that this variant was associated with haploinsufficiency, which resulted in dramatically reducing the formation of IVD protein due to unstable mutant protein and not a lack of mRNA expression.ConclusionThe boy was diagnosed with the dual genetic disorders of Prader–Willi syndrome and isovaleric acidemia. …”
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Identification of Parkinson’s disease using MRI and genetic data from the PPMI cohort: an improved machine learning fusion approach by Yifeng Yang, Liangyun Hu, Yang Chen, Weidong Gu, Guangwu Lin, YuanZhong Xie, Shengdong Nie

“…Our findings enhance understanding of the disease and advance us toward the goal of precision medicine for neurodegenerative disorder.…”
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Genome rearrangements in neurodevelopmental disorders of the central nervous system: origins, genomic mechanisms, functional and clinical consequences. Review article by V. Kučinskas, E. Preikšaitienė, L. Ambrozaitytė, L. Cimbalistienė, A. Utkus

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HERVs Endophenotype in Autism Spectrum Disorder: Human Endogenous Retroviruses, Specific Immunoreactivity, and Disease Association in Different Family Members by Marco Bo, Alessandra Carta, Chiara Cipriani, Vanna Cavassa, Elena Rita Simula, Nguyen Thi Huyen, Giang Thi Hang Phan, Marta Noli, Claudia Matteucci, Stefano Sotgiu, Emanuela Balestrieri, Leonardo Antonio Sechi

“…Certain HERV families show unique expression patterns and immune responses in autism spectrum disorder (ASD) patients compared to healthy controls, suggesting their potential as biomarkers. …”
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MPN/MDS OVERLAP SYNDROME ANTICIPATED BY A SEVERE BLEEDING DIATHESIS: HYPOTHESIS OF A PRE-EXISTING PLATELET DISORDER by Paola Ranalli, Stefano Baldoni, Daniela Bruno, Mauro Di Ianni

“…This case report underlines the importance of genetic testing in case of patient with documented platelet function disorder, including both mutations associated with inherited platelet disorders and germline mutations more strictly predisposing to Myeloid Neoplasms. …”
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