Wolfram Syndrome: A Case Report and Review of Clinical Manifestations, Genetics Pathophysiology, and Potential Therapies by N. B. Toppings, J. M. McMillan, P. Y. B. Au, O. Suchowersky, L. E. Donovan

“…Classical Wolfram syndrome (WS) is a rare autosomal recessive disorder caused by mutations in WFS1, a gene implicated in endoplasmic reticulum (ER) and mitochondrial function. …”
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A network-based systems genetics framework identifies pathobiology and drug repurposing in Parkinson’s disease by Lijun Dou, Zhenxing Xu, Jielin Xu, Chengxi Zang, Chang Su, Andrew A. Pieper, James B. Leverenz, Fei Wang, Xiongwei Zhu, Jeffrey Cummings, Feixiong Cheng

“…We utilized a systems genetics approach to identify potential risk genes and repurposable drugs for PD. …”
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Beyond BRAFV600E: Investigating the Clinical and Genetic Spectrum of Langerhans Cell Histiocytosis in Children by Xue Tang, Ju Gao, Xia Guo, Zhi Wan, Jing‐jing Sun

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A Single‐Center Retrospective Cohort Study of Biopterin Metabolism Disorders in the United Arab Emirates by Omar Jarrah, Mahmood Nouri, Aisha Al Shamsi

“…ABSTRACT Background Tetrahydrobiopterin (BH4) deficiencies comprise a group of five neurometabolic disorders caused by five genetic defects responsible for BH4 biosynthesis and regeneration. …”
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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

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A case of CDKL5 deficiency disorder with a novel intragenic multi-exonic duplication by Takato Akiba, Shino Shimada, Katsumi Imai, Satoru Takahashi

“…This case highlights the importance of careful phenotyping and comprehensive genetic testing to detect rare structural variants in CDD patients.…”
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An Empirical Analysis of the Role of Piano Performance in Alleviating Psychological Trauma in People with Psychological Isolation Disorder by Xia Cao

“…This paper presents an in-depth analysis and study of the role of piano performance in alleviating psychological trauma in people with psychological isolation disorder. In this paper, we designed a music modulation system based on EEG signals of people with isolation disorder and designed an interface with real-time emotion recognition. …”
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Bridging animal models and humans: neuroimaging as intermediate phenotypes linking genetic or stress factors to anhedonia by Huiling Guo, Yao Xiao, Shuai Dong, Jingyu Yang, Pengfei Zhao, Tongtong Zhao, Aoling Cai, Lili Tang, Juan Liu, Hui Wang, Ruifang Hua, Rongxun Liu, Yange Wei, Dandan Sun, Zhongchun Liu, Mingrui Xia, Yong He, Yankun Wu, Tianmei Si, Fay Y. Womer, Fuqiang Xu, Yanqing Tang, Jie Wang, Weixiong Zhang, Xizhe Zhang, Fei Wang

“…Abstract Background Intermediate phenotypes, such as characteristic neuroimaging patterns, offer unique insights into the genetic and stress-related underpinnings of neuropsychiatric disorders like depression. …”
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Influence of Genetic Variants of the N-Methyl-D-Aspartate Receptor on Emotion and Social Behavior in Adolescents by Li-Ching Lee, Ying-Chun Cho, Pei-Jung Lin, Ting-Chi Yeh, Chun-Yen Chang, Ting-Kuang Yeh

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Analysis of a Series of 26 Cases With Prenatal Skeletal Dysplasia via Multiplatform Genetic Detection by Li‐min Cui, Hua‐ying Hu, Xiao‐mei Zhai, Ming‐fei Qi, Yan‐ming Liu, Cong‐ying Han, Jing Zhang, Ming Shen, Yu‐lan Xiang, Wen‐qi Chen, Kai Yang, Dong‐liang Zhang, Huan‐xia Xing

“…In addition, this study demonstrates that a strategy sequentially including various genetic techniques contributes to the diagnosis of highly heterogeneous genetic disorders such as SD.…”
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Association, Haplotype, and Gene-Gene Interactions of the HPA Axis Genes with Suicidal Behaviour in Affective Disorders by Anna Leszczyńska-Rodziewicz, Aleksandra Szczepankiewicz, Joanna Pawlak, Monika Dmitrzak-Weglarz, Joanna Hauser

“…We report here a comprehensive analysis of the HPA axis genes and a lack of association for genetic variations regarding the risk of suicide attempts in affective disorder patients. …”
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Interaction of genetics risk score and fatty acids quality indices on healthy and unhealthy obesity phenotype by Niloufar Rasaei, Seyedeh Fatemeh Fatemi, Fatemeh Gholami, Mahsa Samadi, Mohammad Keshavarz Mohammadian, Elnaz Daneshzad, Khadijeh Mirzaei

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Genetic Biomarkers and Circulating White Blood Cells in Osteoarthritis: A Bioinformatics and Mendelian Randomization Analysis by Yimin Pan, Xiaoshun Sun, Jun Tan, Chao Deng, Changwu Wu, Georg Osterhoff, Nikolas Schopow

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Advancing CNS Therapeutics: Enhancing Neurological Disorders with Nanoparticle-Based Gene and Enzyme Replacement Therapies by Liu S, Li H, Xi S, Zhang Y, Sun T

“…This review focuses on the application of NPs in gene therapy and enzyme replacement therapy (ERT) for neurological disorders. Gene therapy involves altering or manipulating gene expression and can be enhanced by NPs designed to carry various genetic materials. …”
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Ethnomedicine Knowledge Among Iranian Patients With Gastrointestinal And Liver Disorders: A Cross-Sectional Study by Fatemeh Sadat Hasheminasab, MD,Ph.D, Yasaman Zamanian, MD, Saiedeh Haji-Maghsoudi, Ph.D, Alireza Bakhshipour, MD, Maryam Azimi, MD,Ph.D

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Long-term deprescription in chronic pain and opioid use disorder patients: Pharmacogenetic and sex differences by Muriel Javier, Escorial Mónica, Margarit César, Barrachina Jordi, Carvajal Cristian, Morales Domingo, Peiró Ana M.

“…More than half of patients with opioid use disorder for chronic non-cancer pain (CNCP) reduced their dose through a progressive opioid withdrawal supported by a rotation to buprenorphine and/or tramadol. …”
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Impaired Mitochondrial Bioenergetics Function in Pediatric Chronic Overlapping Pain Conditions with Functional Gastrointestinal Disorders by Gisela Chelimsky, Pippa Simpson, Liyun Zhang, Doug Bierer, Steve Komas, Balaraman Kalyanaraman, Thomas Chelimsky

“…Fatigue is often the primary complaint of children with functional gastrointestinal disorders (FGDI) and other chronic overlapping pain disorders (COPC). …”
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Neurological Soft Signs in Type I Bipolar Disorder and Bipolar Spectrum Patients and Their Unaffected First‐Degree Relatives: A Cross‐Sectional Study by Seyed Saeed Sadr, Seyed Mehdi Samimi‐Ardestani, Yousef Semnani, Narges Adel, Faezeh Tajari, Nastaran Samani

“…ABSTRACT Background and Aims This study aimed to compare neurological soft signs (NSSs) in type 1 bipolar disorder (BD), bipolar spectrum (BS) patients, and their unaffected first‐degree relatives. …”
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Disorders of Sex Development: Management of Gender Assignment in a Preterm Infant with Intrauterine Growth Restriction by Lucy D. Mastrandrea, Christine H. Albini, Ralph J. Wynn, Saul P. Greenfield, Luther K. Robinson, Tom Mazur

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Depression and Anxiety Disorders among Patients with Psoriasis: A Hospital-Based Case-Control Study by Masoud Golpour, Seyed Hamzeh Hosseini, Mohammad Khademloo, Maryam Ghasemi, Aghdas Ebadi, Fatemeh Koohkan, Soheila Shahmohammadi

“…Psoriasis is a common, genetically determined inflammatory and proliferative disease of the skin. …”
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